-
1
-
-
0032127166
-
Ten years of genomics, chromosome 21, and Down syndrome
-
Antonarakis SE. 1998. Ten years of genomics, chromosome 21, and Down syndrome. Genomics 51:1-16.
-
(1998)
Genomics
, vol.51
, pp. 1-16
-
-
Antonarakis, S.E.1
-
2
-
-
0033926871
-
Identification of uniparental disomy following prenatal detection of robertsonian translocations and isochromosomes
-
Berend SA, Horwitz J, McCaskill Ch, Shaffer LG. 2000. Identification of uniparental disomy following prenatal detection of robertsonian translocations and isochromosomes. Am J Hum Genet 66:1787-1793.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1787-1793
-
-
Berend, S.A.1
Horwitz, J.2
McCaskill, C.3
Shaffer, L.G.4
-
3
-
-
0037096916
-
Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region
-
Cavaille J, Seitz H, Paulsen M, Ferguson-Smith AC, Bachellerie JP. 2002. Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region. Hum Mol Genet 11:1527-1538.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 1527-1538
-
-
Cavaille, J.1
Seitz, H.2
Paulsen, M.3
Ferguson-Smith, A.C.4
Bachellerie, J.P.5
-
4
-
-
0037328861
-
Angelman syndrome: A review of the clinical and genetic aspects
-
Clayton- Smith J, Laan L. 2003. Angelman syndrome: A review of the clinical and genetic aspects. J Med Genet 40:87-95.
-
(2003)
J Med Genet
, vol.40
, pp. 87-95
-
-
Clayton-Smith, J.1
Laan, L.2
-
5
-
-
0028023046
-
Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation
-
Eggerding FA, Schonberg SA, Chehab FF, Norton ME, Cox VA, Epstein CJ. 1994. Uniparental isodisomy for paternal 7p and maternal 7q in a child with growth retardation. Am J Hum Genet 55:253-265.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 253-265
-
-
Eggerding, F.A.1
Schonberg, S.A.2
Chehab, F.F.3
Norton, M.E.4
Cox, V.A.5
Epstein, C.J.6
-
6
-
-
0018939994
-
A new genetic concept: Uniparental disomy and its potential effect, isodisomy
-
Engel E. 1980. A new genetic concept: Uniparental disomy and its potential effect, isodisomy. Am J Med Genet 6:137-143.
-
(1980)
Am J Med Genet
, vol.6
, pp. 137-143
-
-
Engel, E.1
-
7
-
-
0035071955
-
Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements
-
Giglio S, Broman KW, Matsumoto N, Calvari V, Gimelli G, Neumann T, Ohashi H, Voullaire L, Larizza D, Giorda R, Weber JL, Ledbetter DH, Zuffardi O. 2001. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 68:874-883.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 874-883
-
-
Giglio, S.1
Broman, K.W.2
Matsumoto, N.3
Calvari, V.4
Gimelli, G.5
Neumann, T.6
Ohashi, H.7
Voullaire, L.8
Larizza, D.9
Giorda, R.10
Weber, J.L.11
Ledbetter, D.H.12
Zuffardi, O.13
-
8
-
-
1042267409
-
Prader-Willi syndrome: Advances in genetics, pathophysiology and treatment
-
Goldstone AP. 2004. Prader-Willi syndrome: Advances in genetics, pathophysiology and treatment. Trends Endocrinol Metab 15(1):12-20.
-
(2004)
Trends Endocrinol Metab
, vol.15
, Issue.1
, pp. 12-20
-
-
Goldstone, A.P.1
-
9
-
-
0037301222
-
The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted
-
Grabowski M, Zimprich A, Lorenz-Depiereux B, Kalscheuer V, Asmus F, Gasser T, Meitinger T, Strom TM. 2003. The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. Eur J Hum Genet 11:138-144.
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 138-144
-
-
Grabowski, M.1
Zimprich, A.2
Lorenz-Depiereux, B.3
Kalscheuer, V.4
Asmus, F.5
Gasser, T.6
Meitinger, T.7
Strom, T.M.8
-
10
-
-
0035662379
-
Silver-Russell syndrome: A dissection of the genetic aetiology and candidate chromosomal regions
-
Hichins MP, Stanier Ph, Preece MA, Moore GE. 2001. Silver-Russell syndrome: A dissection of the genetic aetiology and candidate chromosomal regions. J Med Genet 38:810-819.
-
(2001)
J Med Genet
, vol.38
, pp. 810-819
-
-
Hichins, M.P.1
Stanier, Ph.2
Preece, M.A.3
Moore, G.E.4
-
11
-
-
0033613977
-
Abnormal phenotypes in uniparental disomy (UPD)-fundamental aspects and a critical review with bibliography of UPD other than 15
-
Kotzot D. 1999. Abnormal phenotypes in uniparental disomy (UPD)-fundamental aspects and a critical review with bibliography of UPD other than 15. Am J Med Genet 82:265-274.
-
(1999)
Am J Med Genet
, vol.82
, pp. 265-274
-
-
Kotzot, D.1
-
12
-
-
0034890364
-
Complex and segmental uniparental disomy (UPD)-Review and lessons from rare chromosomal complements
-
Kotzot D. 2001. Complex and segmental uniparental disomy (UPD)-Review and lessons from rare chromosomal complements. J Med Genet 38:497-507.
-
(2001)
J Med Genet
, vol.38
, pp. 497-507
-
-
Kotzot, D.1
-
13
-
-
0036796014
-
Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD)-Coincidence or consequence?
-
Kotzot D. 2002a. Supernumerary marker chromosomes (SMC) and uniparental disomy (UPD)-Coincidence or consequence? J Med Genet 39:775-778.
-
(2002)
J Med Genet
, vol.39
, pp. 775-778
-
-
Kotzot, D.1
-
14
-
-
0036707790
-
Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15
-
Kotzot D, 2002b. Review and meta-analysis of systematic searches for uniparental disomy (UPD) other than UPD 15. Am J Med Genet 111:366-375.
-
(2002)
Am J Med Genet
, vol.111
, pp. 366-375
-
-
Kotzot, D.1
-
15
-
-
0035426093
-
Maternal isochromosome 7q and paternal isochromosome 7p in a boy with growth retardation
-
Kotzot D, Holland H, Keller E, Froster UG. 2001. Maternal isochromosome 7q and paternal isochromosome 7p in a boy with growth retardation. Am J Med Genet 102:169-172.
-
(2001)
Am J Med Genet
, vol.102
, pp. 169-172
-
-
Kotzot, D.1
Holland, H.2
Keller, E.3
Froster, U.G.4
-
16
-
-
6744221197
-
Identification of an imprinted gene, Meg3/Gtl2 and its human homologMEG3, first mapped on mouse distal chromosome 12 and human chromosome 14q
-
Miyoshi N, Wagatsuma H, Wakana S, Shiroishi T, Nomura M, Kohda T, Surani MA, Kaneko-Ishino T, Ishino F. 2000. Identification of an imprinted gene, Meg3/Gtl2 and its human homologMEG3, first mapped on mouse distal chromosome 12 and human chromosome 14q. Genes Cells 5:211-220.
-
(2000)
Genes Cells
, vol.5
, pp. 211-220
-
-
Miyoshi, N.1
Wagatsuma, H.2
Wakana, S.3
Shiroishi, T.4
Nomura, M.5
Kohda, T.6
Surani, M.A.7
Kaneko-Ishino, T.8
Ishino, F.9
-
17
-
-
0036820514
-
Chromosome 7p disruptions in Silver-Russell syndrome: Delineating an imprinted candidate gene region
-
Monk D, Bentley L, Hitchins M, Myler RA, Clayton-Smith J, Ismail S, Price SM, Preece MA, Stanier P, Moore GE. 2002. Chromosome 7p disruptions in Silver-Russell syndrome: Delineating an imprinted candidate gene region. Hum Genet 111(4-5):376-387.
-
(2002)
Hum Genet
, vol.111
, Issue.4-5
, pp. 376-387
-
-
Monk, D.1
Bentley, L.2
Hitchins, M.3
Myler, R.A.4
Clayton-Smith, J.5
Ismail, S.6
Price, S.M.7
Preece, M.A.8
Stanier, P.9
Moore, G.E.10
-
18
-
-
0035777024
-
Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes
-
Nicholls RD, Knepper JL. 2001. Genome organization, function, and imprinting in Prader-Willi and Angelman syndromes. Annu Rev Genomics Hum Genet 2:153-175.
-
(2001)
Annu Rev Genomics Hum Genet
, vol.2
, pp. 153-175
-
-
Nicholls, R.D.1
Knepper, J.L.2
-
19
-
-
0034098812
-
Mechanisms leading to uniparental disomy and their clinical consequences
-
Robinson WP. 2000. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays 22(5):452-459.
-
(2000)
Bioessays
, vol.22
, Issue.5
, pp. 452-459
-
-
Robinson, W.P.1
-
20
-
-
0028147431
-
A somatic origin of homologous Robertsonian translocations and isochromosomes
-
Robinson WP, Bernasconi F, Basar an S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LMS, Lüleci G, Schinzel A. 1994. A somatic origin of homologous Robertsonian translocations and isochromosomes. Am J Hum Genet 54:290-302.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 290-302
-
-
Robinson, W.P.1
Bernasconi, F.2
Basar An, S.3
Yüksel-Apak, M.4
Neri, G.5
Serville, F.6
Balicek, P.7
Haluza, R.8
Farah, L.M.S.9
Lüleci, G.10
Schinzel, A.11
-
21
-
-
0000771975
-
A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (five examples)
-
Russell A. 1954. A syndrome of intra-uterine dwarfism recognizable at birth with cranio-facial dysostosis, disproportionately short arms, and other anomalies (five examples). Proc R Soc Med 47:1040-1044.
-
(1954)
Proc R Soc Med
, vol.47
, pp. 1040-1044
-
-
Russell, A.1
-
22
-
-
0034663920
-
The Dlk1 and Gtl2 genes are linked and reciprocally imprinted
-
Schmidt JV, Matteson PG, Jones BK, Guan XJ, Tilghman SM. 2000. The Dlk1 and Gtl2 genes are linked and reciprocally imprinted. Genes Dev 14:1997-2002.
-
(2000)
Genes Dev
, vol.14
, pp. 1997-2002
-
-
Schmidt, J.V.1
Matteson, P.G.2
Jones, B.K.3
Guan, X.J.4
Tilghman, S.M.5
-
23
-
-
78651048074
-
Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins
-
Silver HK, Kiyasu W, George J, Deamer WC. 1953. Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics 12:368-376.
-
(1953)
Pediatrics
, vol.12
, pp. 368-376
-
-
Silver, H.K.1
Kiyasu, W.2
George, J.3
Deamer, W.C.4
-
24
-
-
0036023277
-
Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: Risk estimate
-
Silverstein S, Lerer I, Sagi M, Frumkin A, Ben-Neriah Z, Abeliovich D. 2002. Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: Risk estimate. Prenat Diagn 22:649-651.
-
(2002)
Prenat Diagn
, vol.22
, pp. 649-651
-
-
Silverstein, S.1
Lerer, I.2
Sagi, M.3
Frumkin, A.4
Ben-Neriah, Z.5
Abeliovich, D.6
-
25
-
-
0036918736
-
Transient neonatal diabetes, a disorder of imprinting
-
Temple IK, Shield JP. 2002. Transient neonatal diabetes, a disorder of imprinting. J Med Genet 39(12):872-875.
-
(2002)
J Med Genet
, vol.39
, Issue.12
, pp. 872-875
-
-
Temple, I.K.1
Shield, J.P.2
-
26
-
-
0037389185
-
Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development
-
Weksberg R, Smith AC, Squire J, Sadowski P. 2003. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. Hum Mol Genet 12 Spec issue No 1:R61-R68.
-
(2003)
Hum Mol Genet
, vol.12
, Issue.SPEC. ISSUE NO. 1
-
-
Weksberg, R.1
Smith, A.C.2
Squire, J.3
Sadowski, P.4
-
27
-
-
0035662753
-
Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child
-
Röthlisberger B, Zerova T, Kotzot D, Buzhievskaya TI, Balmer D, Schinzel A. 2001. Supernumerary marker chromosome (1) of paternal origin and maternal uniparental disomy 1 in a developmentally delayed child. J Med Genet 38:885-888.
-
(2001)
J Med Genet
, vol.38
, pp. 885-888
-
-
Röthlisberger, B.1
Zerova, T.2
Kotzot, D.3
Buzhievskaya, T.I.4
Balmer, D.5
Schinzel, A.6
-
28
-
-
0033838127
-
Rare etiology of autosomal recessive disease in a child with noncarrier parents
-
Lebo RV, Shapiro LR, Fenerci EY, Hoover JM, Chuang JL, Chuang DT, Kronn DF. 2000. Rare etiology of autosomal recessive disease in a child with noncarrier parents. Am J Hum Genet 67:750-754.
-
(2000)
Am J Hum Genet
, vol.67
, pp. 750-754
-
-
Lebo, R.V.1
Shapiro, L.R.2
Fenerci, E.Y.3
Hoover, J.M.4
Chuang, J.L.5
Chuang, D.T.6
Kronn, D.F.7
-
29
-
-
0032830606
-
Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1
-
Dufourcq-Lagelouse R, Lambert N, Duval M, Viot G, Vilmer E, Fischer A, Prieur M, de Saint Basile G. 1999. Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1. Europ J Hum Genet 7:633-637.
-
(1999)
Europ J Hum Genet
, vol.7
, pp. 633-637
-
-
Dufourcq-Lagelouse, R.1
Lambert, N.2
Duval, M.3
Viot, G.4
Vilmer, E.5
Fischer, A.6
Prieur, M.7
De Saint Basile, G.8
-
30
-
-
0032231302
-
Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects
-
Field LL, Tobias R, Robinson WP, Paisey R, Bain S. 1998. Maternal uniparental disomy of chromosome 1 with no apparent phenotypic effects. Am J Hum Genet 63:1216-1220.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 1216-1220
-
-
Field, L.L.1
Tobias, R.2
Robinson, W.P.3
Paisey, R.4
Bain, S.5
-
31
-
-
0345122333
-
Chromosome 1 maternal uniparenatal disomy ascertained inadvertently during a linkage genome screen
-
[Field LL, Tobias R, Robinson WP, Paisey R, Bain S. 1998. Chromosome 1 maternal uniparenatal disomy ascertained inadvertently during a linkage genome screen. Am J Hum Genet 63(Suppl):751.]
-
(1998)
Am J Hum Genet
, vol.63
, Issue.SUPPL.
, pp. 751
-
-
Field, L.L.1
Tobias, R.2
Robinson, W.P.3
Paisey, R.4
Bain, S.5
-
32
-
-
0030821957
-
Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa
-
Pulkkinen L, Bullrich F, Czarnecki P, Weiss L, Uitto J. 1997. Maternal uniparental disomy of chromosome 1 with reduction to homozygosity of the LAMB3 locus in a patient with Herlitz junctional epidermolysis bullosa. Am J Hum Genet 61:611-619.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 611-619
-
-
Pulkkinen, L.1
Bullrich, F.2
Czarnecki, P.3
Weiss, L.4
Uitto, J.5
-
33
-
-
13244287800
-
Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa
-
Fassihi H, Wessagowit V, Ashton GH, Moss C, Ward R, Denyer J, Mellerio JE, McGrath JA. 2005. Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa. Clin Exp Dermatol 30(1):71-74.
-
(2005)
Clin Exp Dermatol
, vol.30
, Issue.1
, pp. 71-74
-
-
Fassihi, H.1
Wessagowit, V.2
Ashton, G.H.3
Moss, C.4
Ward, R.5
Denyer, J.6
Mellerio, J.E.7
McGrath, J.A.8
-
34
-
-
12144287883
-
Genomewide scan in families with Schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1
-
Abecasis GR, Burt RA, Hall D, Bochum S, Doheny KF, Lundy SL, Torrington M, Roos JL, Gogos JA, Karayiorgou M. 2004. Genomewide scan in families with Schizophrenia from the founder population of Afrikaners reveals evidence for linkage and uniparental disomy on chromosome 1. Am J Hum Genet 74:403-417.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 403-417
-
-
Abecasis, G.R.1
Burt, R.A.2
Hall, D.3
Bochum, S.4
Doheny, K.F.5
Lundy, S.L.6
Torrington, M.7
Roos, J.L.8
Gogos, J.A.9
Karayiorgou, M.10
-
35
-
-
0036875547
-
Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A
-
Rivolta C, Berson EL, Dryja ThP. 2002. Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A. Arch Ophthalmol 120:1566-1571.
-
(2002)
Arch Ophthalmol
, vol.120
, pp. 1566-1571
-
-
Rivolta, C.1
Berson, E.L.2
Dryja, T.3
-
36
-
-
0036138181
-
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively
-
Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A. 2002. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. Am J Hum Genet 70:224-229.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 224-229
-
-
Thompson, D.A.1
McHenry, C.L.2
Li, Y.3
Richards, J.E.4
Othman, M.I.5
Schwinger, E.6
Vollrath, D.7
Jacobson, S.G.8
Gal, A.9
-
37
-
-
0033653161
-
Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration
-
[Thompson DA, Gyurus P, Fleischer LL, Bingham EL, McHenry CL, Apfelstedt-Sylla E, Zrenner E, Lorenz B, Richards JE, Jacobson SG, Sieving PA, Gal A. 2000. Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci 41:4293-4299.]
-
(2000)
Invest Ophthalmol Vis Sci
, vol.41
, pp. 4293-4299
-
-
Thompson, D.A.1
Gyurus, P.2
Fleischer, L.L.3
Bingham, E.L.4
McHenry, C.L.5
Apfelstedt-Sylla, E.6
Zrenner, E.7
Lorenz, B.8
Richards, J.E.9
Jacobson, S.G.10
Sieving, P.A.11
Gal, A.12
-
38
-
-
0035576071
-
Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1
-
Miyoshi O, Yabe R, Wakui K, Fukushima Y, Koizumi S, Uchikawa M, Kajii T, Numakura C, Takahashi S, Hayasaka K, Niikawa N. 2001. Two cases of mosaic RhD blood-group phenotypes and paternal isodisomy for chromosome 1 Am J Med Genet 104:250-256.
-
(2001)
Am J Med Genet
, vol.104
, pp. 250-256
-
-
Miyoshi, O.1
Yabe, R.2
Wakui, K.3
Fukushima, Y.4
Koizumi, S.5
Uchikawa, M.6
Kajii, T.7
Numakura, C.8
Takahashi, S.9
Hayasaka, K.10
Niikawa, N.11
-
39
-
-
0034244572
-
Complete paternal uniparental isodisomy of chromosome 1: A novel mechanism for Herlitz junctional epidermolysis bullosa
-
Takizawa Y, Pulkkinen L, Chao S-Ch, Nakajma H, Nakano Y, Shimizu H, Uitto J. 2000. Complete paternal uniparental isodisomy of chromosome 1: A novel mechanism for Herlitz junctional epidermolysis bullosa. J Invest Dermatol 115:307-310.
-
(2000)
J Invest Dermatol
, vol.115
, pp. 307-310
-
-
Takizawa, Y.1
Pulkkinen, L.2
Chao, S.-Ch.3
Nakajma, H.4
Nakano, Y.5
Shimizu, H.6
Uitto, J.7
-
40
-
-
0033779987
-
Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis
-
Miura Y, Hiura M, Torigoe K, Numata O, Kuwahara A, Matsunaga M, Hasegawa S, Boku N, Ino H, Mardy S, Endo F, Matsuda I, Indo Y. 2000. Complete paternal uniparental isodisomy for chromosome 1 revealed by mutation analyses of the TRKA (NTRK1) gene encoding a receptor tyrosine kinase for nerve growth factor in a patient with congenital insensitivity to pain with anhidrosis. Hum Genet 107:205-209.
-
(2000)
Hum Genet
, vol.107
, pp. 205-209
-
-
Miura, Y.1
Hiura, M.2
Torigoe, K.3
Numata, O.4
Kuwahara, A.5
Matsunaga, M.6
Hasegawa, S.7
Boku, N.8
Ino, H.9
Mardy, S.10
Endo, F.11
Matsuda, I.12
Indo, Y.13
-
41
-
-
0034808935
-
Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency
-
[Indo Y, Mardy S, Miura Y, Moosa A, Ismail EA, Toscano E, Andria G, Pavone V, Brown DL, Brooks A, Endo F, Matsuda I. 2002. Congenital insensitivity to pain with anhidrosis (CIPA): Novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency. Hum Mutat 18(4):308-318.]
-
(2002)
Hum Mutat
, vol.18
, Issue.4
, pp. 308-318
-
-
Indo, Y.1
Mardy, S.2
Miura, Y.3
Moosa, A.4
Ismail, E.A.5
Toscano, E.6
Andria, G.7
Pavone, V.8
Brown, D.L.9
Brooks, A.10
Endo, F.11
Matsuda, I.12
-
42
-
-
0033613895
-
Uniparental isodisomy resulting from 46,XX,i(1-p),i(1q) in a woman with short stature ptosis, micro/retrognathia, myopathy, deafness, and sterility
-
Chen P, Young R, Mu X, Nandi K, Miao S, Prouty L, Ursin S, Gonzalez J, Yanamandra K. 1999. Uniparental isodisomy resulting from 46,XX,i(1-p),i(1q) in a woman with short stature ptosis, micro/retrognathia, myopathy, deafness, and sterility. Am J Med Genet 82:215-218.
-
(1999)
Am J Med Genet
, vol.82
, pp. 215-218
-
-
Chen, P.1
Young, R.2
Mu, X.3
Nandi, K.4
Miao, S.5
Prouty, L.6
Ursin, S.7
Gonzalez, J.8
Yanamandra, K.9
-
43
-
-
0031947559
-
Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis
-
Gelb BD, Willner JP, Dunn TM, Kardon NB, Verloes A, Poncin J, Desnick RJ. 1998. Paternal uniparental disomy for chromosome 1 revealed by molecular analysis of a patient with pycnodysostosis. Am J Hum Genet 62:848-854.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 848-854
-
-
Gelb, B.D.1
Willner, J.P.2
Dunn, T.M.3
Kardon, N.B.4
Verloes, A.5
Poncin, J.6
Desnick, R.J.7
-
44
-
-
0345122332
-
Mutation analysis of pycnodysostosis reveals uniparental disomy of chromosome 1
-
[Gelb BD, Willner JP, Verloes A, Kerens C, Desnick RJ. 1997. Mutation analysis of pycnodysostosis reveals uniparental disomy of chromosome 1. Am J Hum Genet 61(Suppl):203.]
-
(1997)
Am J Hum Genet
, vol.61
, Issue.SUPPL.
, pp. 203
-
-
Gelb, B.D.1
Willner, J.P.2
Verloes, A.3
Kerens, C.4
Desnick, R.J.5
-
45
-
-
0036453493
-
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations
-
Spiekerköetter U, Beds A, Yue Z, Haines J, Strauss AW, Summar M. 2002. Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations. Hum Mutat 20:447-451.
-
(2002)
Hum Mutat
, vol.20
, pp. 447-451
-
-
Spiekerköetter, U.1
Beds, A.2
Yue, Z.3
Haines, J.4
Strauss, A.W.5
Summar, M.6
-
46
-
-
32644465018
-
Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations
-
[Spiekerkötter UD, Eeds A, Yue Z, Haines J, Strauss AW, Summar M. 2002. Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations. Am J Hum Genet 71(Suppl 4):55.]
-
(2002)
Am J Hum Genet
, vol.71
, Issue.SUPPL. 4
, pp. 55
-
-
Spiekerkötter, U.D.1
Eeds, A.2
Yue, Z.3
Haines, J.4
Strauss, A.W.5
Summar, M.6
-
47
-
-
0035174716
-
Maternal uniparental heterodisomy for chromosome 2: Detection through "atypical" maternal AFP/hCG levels, with an update on a previous case
-
Wolstenholme J, White I, Sturgiss S, Carter J, Plant N, Goodship JA. 2001. Maternal uniparental heterodisomy for chromosome 2: Detection through "atypical" maternal AFP/hCG levels, with an update on a previous case. Prenat Diagn 21:813-817.
-
(2001)
Prenat Diagn
, vol.21
, pp. 813-817
-
-
Wolstenholme, J.1
White, I.2
Sturgiss, S.3
Carter, J.4
Plant, N.5
Goodship, J.A.6
-
48
-
-
0034608286
-
Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity
-
Heide E, Heide K-G, Rodewald A. 2000. Maternal uniparental disomy (UPD) for chromosome 2 discovered by exclusion of paternity. Am J Med Genet 92:260-263.
-
(2000)
Am J Med Genet
, vol.92
, pp. 260-263
-
-
Heide, E.1
Heide, K.-G.2
Rodewald, A.3
-
49
-
-
0030950624
-
Maternal uniparental disomy 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios
-
Hansen WF, Bernhard LE, Langlois S, Rao KW, Chescheir NC, Aylsworth AS, Smith I, Robinson WP, Barrett IJ, Kalousek DK. 1997. Maternal uniparental disomy 2 and confined placental mosaicism for trisomy 2 in a fetus with intrauterine growth restriction, hypospadias, and oligohydramnios. Prenat Diagn 17:443-450.
-
(1997)
Prenat Diagn
, vol.17
, pp. 443-450
-
-
Hansen, W.F.1
Bernhard, L.E.2
Langlois, S.3
Rao, K.W.4
Chescheir, N.C.5
Aylsworth, A.S.6
Smith, I.7
Robinson, W.P.8
Barrett, I.J.9
Kalousek, D.K.10
-
50
-
-
0002929450
-
Confined placental mosaicism for trisomy 2 with maternal uniparental disomy of chromosome 2
-
[Bernard LE, Kalousek S, Langlois S, Barrett IJ, Hansen WF, Aylsworth AS, Smith DJ, Rao KW. 1995. Confined placental mosaicism for trisomy 2 with maternal uniparental disomy of chromosome 2. Am J Hum Genet 57(Suppl):261.]
-
(1995)
Am J Hum Genet
, vol.57
, Issue.SUPPL.
, pp. 261
-
-
Bernard, L.E.1
Kalousek, S.2
Langlois, S.3
Barrett, I.J.4
Hansen, W.F.5
Aylsworth, A.S.6
Smith, D.J.7
Rao, K.W.8
-
51
-
-
0029858172
-
Normal phenotype with maternal isodisomy in a female with two isochromosomes: I(2p) and i(2q)
-
Bernasconi F, Karagüzel A, Celep F, Keser I, Lüleci G, Dutly F, Schinzel A. 1996. Normal phenotype with maternal isodisomy in a female with two isochromosomes: i(2p) and i(2q). Am J Hum Genet 59:1114-1118.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 1114-1118
-
-
Bernasconi, F.1
Karagüzel, A.2
Celep, F.3
Keser, I.4
Lüleci, G.5
Dutly, F.6
Schinzel, A.7
-
52
-
-
0030856047
-
Is there an abnormal phenotype associated with maternal isodisomy for chromosome 2 in the presence of two isochromosomes? Am
-
Shaffer LG, McCaskill Ch, Egli CA, Baker JC, Johnston KM. 1997. Is there an abnormal phenotype associated with maternal isodisomy for chromosome 2 in the presence of two isochromosomes? Am J Hum Genet 61:462-463.
-
(1997)
J Hum Genet
, vol.61
, pp. 462-463
-
-
Shaffer, L.G.1
McCaskill, Ch.2
Egli, C.A.3
Baker, J.C.4
Johnston, K.M.5
-
53
-
-
0345553724
-
Maternal uniparental disomy of chromosome 2 in a child with growth retardation, hypospadias, and a cytogenetic abnormality
-
[Johnston KM, Baker JC, Egli CA, McCaskill Ch, Shaffer LG. 1996. Maternal uniparental disomy of chromosome 2 in a child with growth retardation, hypospadias, and a cytogenetic abnormality. Am J Hum Genet 59(Suppl):518.]
-
(1996)
Am J Hum Genet
, vol.59
, Issue.SUPPL.
, pp. 518
-
-
Johnston, K.M.1
Baker, J.C.2
Egli, C.A.3
McCaskill, Ch.4
Shaffer, L.G.5
-
54
-
-
0029797559
-
Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation
-
Webb AL, Sturgiss S, Warwicker P, Robson SC, Goodship JA, Wolstenholm J. 1996. Maternal uniparental disomy for chromosome 2 in association with confined placental mosaicism for trisomy 2 and severe intrauterine growth retardation. Prenat Diagn 16:958-962.
-
(1996)
Prenat Diagn
, vol.16
, pp. 958-962
-
-
Webb, A.L.1
Sturgiss, S.2
Warwicker, P.3
Robson, S.C.4
Goodship, J.A.5
Wolstenholm, J.6
-
55
-
-
0345122331
-
Severe growth retardation in association with trisomy 2 in placenta
-
Webb AL, Sturgiss S, Robson SC, Goodship JA, Wolstenholm J. 1996. Severe growth retardation in association with trisomy 2 in placenta. Am J Hum Genet 57(Suppl):1690.
-
(1996)
Am J Hum Genet
, vol.57
, Issue.SUPPL.
, pp. 1690
-
-
Webb, A.L.1
Sturgiss, S.2
Robson, S.C.3
Goodship, J.A.4
Wolstenholm, J.5
-
56
-
-
0029077269
-
Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture
-
Harrison K, Eisenger K, Anyane-Yeboa K, Brown S. 1995. Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. Am J Med Genet 58:147-151.
-
(1995)
Am J Med Genet
, vol.58
, pp. 147-151
-
-
Harrison, K.1
Eisenger, K.2
Anyane-Yeboa, K.3
Brown, S.4
-
57
-
-
0345122330
-
Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture
-
[Harrison K, Eisenger K, Anyane-Yeboa K, Brown S. 1995. Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture. Am J Hum Genet 55(Suppl):603.]
-
(1995)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
, pp. 603
-
-
Harrison, K.1
Eisenger, K.2
Anyane-Yeboa, K.3
Brown, S.4
-
58
-
-
0036138181
-
Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively
-
Thompson DA, McHenry CL, Li Y, Richards JE, Othman MI, Schwinger E, Vollrath D, Jacobson SG, Gal A. 2002b. Retinal dystrophy due to paternal isodisomy for chromosome 1 or chromosome 2, with homoallelism for mutations in RPE65 or MERTK, respectively. Am J Hum Genet 70:224-229.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 224-229
-
-
Thompson, D.A.1
McHenry, C.L.2
Li, Y.3
Richards, J.E.4
Othman, M.I.5
Schwinger, E.6
Vollrath, D.7
Jacobson, S.G.8
Gal, A.9
-
59
-
-
0033694513
-
Uniparental disomy in steroid 5α-reductase 2 deficiency
-
Chavez B, Valdez E, Vuchis F. 2000. Uniparental disomy in steroid 5α-reductase 2 deficiency. JCE & M 85:3147-3150.
-
(2000)
JCE & M
, vol.85
, pp. 3147-3150
-
-
Chavez, B.1
Valdez, E.2
Vuchis, F.3
-
60
-
-
32644487752
-
A case of Fanconi Bickel syndrome caused by uniparental disomy of chromosome 3 with hyperinsulinism and hyperammonemia
-
Hoffman TL, Blanco E, Lane A, Parton PG, De Leon D, Gadi I, Krantz I, Santer R, Stanley C, Wilson T. 2004. A case of Fanconi Bickel syndrome caused by uniparental disomy of chromosome 3 with hyperinsulinism and hyperammonemia. Am J Hum Genet 75(Suppl):A1841.
-
(2004)
Am J Hum Genet
, vol.75
, Issue.SUPPL.
-
-
Hoffman, T.L.1
Blanco, E.2
Lane, A.3
Parton, P.G.4
De Leon, D.5
Gadi, I.6
Krantz, I.7
Santer, R.8
Stanley, C.9
Wilson, T.10
-
61
-
-
0016153298
-
Hétérozygotie et homozygotie pour un inversion péricentrique du 3 humain
-
Betz A, Turleau C, de Grouchy J. 1974. Hétérozygotie et homozygotie pour un inversion péricentrique du 3 humain. Ann Génét 17:77-80.
-
(1974)
Ann Génét
, vol.17
, pp. 77-80
-
-
Betz, A.1
Turleau, C.2
De Grouchy, J.3
-
62
-
-
7744228812
-
Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen A-alpha-chain gene
-
Spena S, Duga S, Asselta R, Peyvandi F, Mahasandana C, Malcovati M, Tenchini ML. 2004. Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen A-alpha-chain gene. Eur J Hum Genet 12(11):891-898.
-
(2004)
Eur J Hum Genet
, vol.12
, Issue.11
, pp. 891-898
-
-
Spena, S.1
Duga, S.2
Asselta, R.3
Peyvandi, F.4
Mahasandana, C.5
Malcovati, M.6
Tenchini, M.L.7
-
63
-
-
7744228812
-
Congenital afibrinogenemia caused by uniparental isodisomy of chromosome 4 containing a 15-kb deletion involving fibrinogen A-alpha-chain gene
-
[Spena S, Duga S, Asselta R, Malcovati M, Tenchini ML. 2004. Congenital afibrinogenemia caused by uniparental isodisomy of chromosome 4 containing a 15-kb deletion involving fibrinogen A-alpha-chain gene. Europ J Hum Genet 12(Suppl 1):P0766.]
-
(2004)
Europ J Hum Genet
, vol.12
, Issue.SUPPL. 1
-
-
Spena, S.1
Duga, S.2
Asselta, R.3
Malcovati, M.4
Tenchini, M.L.5
-
64
-
-
0035140108
-
Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy
-
Kuchinka BD, Barrett IJ, Moya G, Sanchez JM, Langlois S, Yong S-L, Kalousek DK, Robinson WP. 2001. Two cases of confined placental mosaicism for chromosome 4, including one with maternal uniparental disomy. Prenat Diagn 21:36-39.
-
(2001)
Prenat Diagn
, vol.21
, pp. 36-39
-
-
Kuchinka, B.D.1
Barrett, I.J.2
Moya, G.3
Sanchez, J.M.4
Langlois, S.5
Yong, S.-L.6
Kalousek, D.K.7
Robinson, W.P.8
-
65
-
-
0001463761
-
An individual with maternal disomy of chromosome 4 and iso (4p), iso (4q)
-
Lindenbaum RH, Woods CG, Norbury CG, Povey S, Rystecki G. 1991. An individual with maternal disomy of chromosome 4 and iso (4p), iso (4q). Am J Hum Genet 49(Suppl):1582.
-
(1991)
Am J Hum Genet
, vol.49
, Issue.SUPPL.
, pp. 1582
-
-
Lindenbaum, R.H.1
Woods, C.G.2
Norbury, C.G.3
Povey, S.4
Rystecki, G.5
-
66
-
-
0020443998
-
A homozygote for pericentric inversion of chromosome 4
-
Carpenter NJ, Say B, Barber ND. 1982. A homozygote for pericentric inversion of chromosome 4. J Med Genet 19:469-471.
-
(1982)
J Med Genet
, vol.19
, pp. 469-471
-
-
Carpenter, N.J.1
Say, B.2
Barber, N.D.3
-
67
-
-
0027958604
-
Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy
-
Brzustowicz LM, Allitto BA, Matseoane D, Theve R, Michaud L, Chatkupt S, Sugarman E, Penchaszadeh GK, Suslak L, Koenigsberger MR, Gilliam TC, Handelin BL. 1994. Paternal isodisomy for chromosome 5 in a child with spinal muscular atrophy. Am J Hum Genet 54:482-488.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 482-488
-
-
Brzustowicz, L.M.1
Allitto, B.A.2
Matseoane, D.3
Theve, R.4
Michaud, L.5
Chatkupt, S.6
Sugarman, E.7
Penchaszadeh, G.K.8
Suslak, L.9
Koenigsberger, M.R.10
Gilliam, T.C.11
Handelin, B.L.12
-
68
-
-
0032721557
-
Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia
-
Spiro RP, Christian SL, Ledbetter DH, New MI, Wilson RC, Roizen N, Rodenfield RL. 1999. Intrauterine growth retardation associated with maternal uniparental disomy for chromosome 6 unmasked by congenital adrenal hyperplasia. Pediatr Res 46:510-513.
-
(1999)
Pediatr Res
, vol.46
, pp. 510-513
-
-
Spiro, R.P.1
Christian, S.L.2
Ledbetter, D.H.3
New, M.I.4
Wilson, R.C.5
Roizen, N.6
Rodenfield, R.L.7
-
69
-
-
0029991428
-
Uniparental maternal disomy 6 in a renal transplant patient
-
Van den Berg-Loonen EM, Savelkoul P, van Hooff H, van Eede P, Riesewijk A, Geraedts J. 1996. Uniparental maternal disomy 6 in a renal transplant patient. Hum Immunol 45:46-51.
-
(1996)
Hum Immunol
, vol.45
, pp. 46-51
-
-
Van Den Berg-Loonen, E.M.1
Savelkoul, P.2
Van Hooff, H.3
Van Eede, P.4
Riesewijk, A.5
Geraedts, J.6
-
70
-
-
0036327093
-
Transient neonatal diabetes associated with uniparental isodisomy of chromosome 6
-
Bonet Alcaina M, Garcia-Algar O, Herrero Perez S, Mombiela Vidal R, Perez Jurado L, Mur Sierra A. 2002. Transient neonatal diabetes associated with uniparental isodisomy of chromosome 6. An Esp Pediatr 56:567-570.
-
(2002)
An Esp Pediatr
, vol.56
, pp. 567-570
-
-
Bonet Alcaina, M.1
Garcia-Algar, O.2
Herrero Perez, S.3
Mombiela Vidal, R.4
Perez Jurado, L.5
Mur Sierra, A.6
-
71
-
-
0034897771
-
Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6
-
Valerio G, Franzese A, Palmieri A, Mackay DJ, Gardner RJ, Temple IK. 2001. Central precocious puberty in a girl with triple X syndrome and neonatal diabetes mellitus associated with paternal isodisomy of chromosome 6. J Pediatr Endocrinol Metab 14:897-900.
-
(2001)
J Pediatr Endocrinol Metab
, vol.14
, pp. 897-900
-
-
Valerio, G.1
Franzese, A.2
Palmieri, A.3
Mackay, D.J.4
Gardner, R.J.5
Temple, I.K.6
-
72
-
-
0034897770
-
Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6
-
Milenkovic T, Zdravkovic D, Gardner RJ, Ignjatovic M, Jankovic B. 2001. Transient neonatal diabetes mellitus in a child with paternal uniparental disomy of chromosome 6. J Pediatr Endocrinol Metab 14:893-895.
-
(2001)
J Pediatr Endocrinol Metab
, vol.14
, pp. 893-895
-
-
Milenkovic, T.1
Zdravkovic, D.2
Gardner, R.J.3
Ignjatovic, M.4
Jankovic, B.5
-
73
-
-
0033981939
-
Refinement of the 6q chromosomal region implicated in transient neonatal diabetes
-
Cave H, Polak M, Drunat S, Denamur E, Czernichow P. 2000. Refinement of the 6q chromosomal region implicated in transient neonatal diabetes. Diabetes 49:108-113.
-
(2000)
Diabetes
, vol.49
, pp. 108-113
-
-
Cave, H.1
Polak, M.2
Drunat, S.3
Denamur, E.4
Czernichow, P.5
-
74
-
-
0035038956
-
Origin of uniparental disomy 6: Presentation of a new case and review of the literature
-
Eggermann Th, Marg W, Mergenthaler S, Eggermann S, Schemmel V, Stoffers U, Zerres K, Spranger S. 2001. Origin of uniparental disomy 6: Presentation of a new case and review of the literature. Ann Genet 44:41-45.
-
(2001)
Ann Genet
, vol.44
, pp. 41-45
-
-
Eggermann, Th.1
Marg, W.2
Mergenthaler, S.3
Eggermann, S.4
Schemmel, V.5
Stoffers, U.6
Zerres, K.7
Spranger, S.8
-
75
-
-
0000570327
-
Clinical indications for uniparental disomy (UPD) testing in growth retarded patients: Presentation of own results by searching for UPDs 2, 6, 7, 14, and 20
-
[Mergenthaler S, Wollmann HA, Kloos P, Albrecht B, Spranger S, Eggermann K, Zerres K, Eggermann T. 2000. Clinical indications for uniparental disomy (UPD) testing in growth retarded patients: Presentation of own results by searching for UPDs 2, 6, 7, 14, and 20. Am J Hum Genet 67(Suppl 2):599.]
-
(2000)
Am J Hum Genet
, vol.67
, Issue.SUPPL. 2
, pp. 599
-
-
Mergenthaler, S.1
Wollmann, H.A.2
Kloos, P.3
Albrecht, B.4
Spranger, S.5
Eggermann, K.6
Zerres, K.7
Eggermann, T.8
-
76
-
-
0034020108
-
Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6
-
Marquis E, Robert JJ, Benezech C, Junien C, Diatloff-Zito C. 2000. Variable features of transient neonatal diabetes mellitus with paternal isodisomy of chromosome 6. Eur J Hum Genet 8:137-140.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 137-140
-
-
Marquis, E.1
Robert, J.J.2
Benezech, C.3
Junien, C.4
Diatloff-Zito, C.5
-
77
-
-
16944364092
-
Fortuitous detection of uniparental isodisomy of chromosome 6
-
Bittencourt MC, Morris MA, Chabod J, Gos A, Lamy B, Fellmann F, Antonarakis SE, Plouvier E, Herve P, Tiberghien P. 1997. Fortuitous detection of uniparental isodisomy of chromosome 6. J Med Genet 34:77-78.
-
(1997)
J Med Genet
, vol.34
, pp. 77-78
-
-
Bittencourt, M.C.1
Morris, M.A.2
Chabod, J.3
Gos, A.4
Lamy, B.5
Fellmann, F.6
Antonarakis, S.E.7
Plouvier, E.8
Herve, P.9
Tiberghien, P.10
-
78
-
-
0032421068
-
Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus
-
Gardner RJ, Robinson DO, Lamont L, Shield JPH, Temple IK. 1998. Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus. Clin Genet 54:522-525.
-
(1998)
Clin Genet
, vol.54
, pp. 522-525
-
-
Gardner, R.J.1
Robinson, D.O.2
Lamont, L.3
Shield, J.P.H.4
Temple, I.K.5
-
79
-
-
0032912699
-
Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus
-
Christian SL, Rich BH, Loebl Ch, Israel J, Vasa R, Kittikamron K, Spiro R, Rosenfield R, Ledbetter DH. 1999. Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus. J Pediatr 134:42-46.
-
(1999)
J Pediatr
, vol.134
, pp. 42-46
-
-
Christian, S.L.1
Rich, B.H.2
Loebl, Ch.3
Israel, J.4
Vasa, R.5
Kittikamron, K.6
Spiro, R.7
Rosenfield, R.8
Ledbetter, D.H.9
-
80
-
-
0345553723
-
Neonatal diabetes mellitus due to uniparental disomy of chromosome 6
-
[Palmer SE, Christian SL, Danney MM, Odom MW, Ledbetter DH. 1998. Neonatal diabetes mellitus due to uniparental disomy of chromosome 6. Am J Hum Genet 63(Suppl):644.
-
(1998)
Am J Hum Genet
, vol.63
, Issue.SUPPL.
, pp. 644
-
-
Palmer, S.E.1
Christian, S.L.2
Danney, M.M.3
Odom, M.W.4
Ledbetter, D.H.5
-
81
-
-
0345122329
-
A unique case of uniparental disomy of chromosome 6 and neonatal diabetes and macroglossia
-
Israel J, Vasa R, Loebl C, Ledbetter D, Christian S. 1997. A unique case of uniparental disomy of chromosome 6 and neonatal diabetes and macroglossia. Am J Hum Genet 61(Suppl):269.]
-
(1997)
Am J Hum Genet
, vol.61
, Issue.SUPPL.
, pp. 269
-
-
Israel, J.1
Vasa, R.2
Loebl, C.3
Ledbetter, D.4
Christian, S.5
-
82
-
-
0033962830
-
Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6
-
Hermann R, Laine A-P, Johansson C, Niederland T, Tokarska L, Dziatkowiak H, Ilonen J, Spltesz G. 2000. Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6. Pediatrics 105:49-52.
-
(2000)
Pediatrics
, vol.105
, pp. 49-52
-
-
Hermann, R.1
Laine, A.-P.2
Johansson, C.3
Niederland, T.4
Tokarska, L.5
Dziatkowiak, H.6
Ilonen, J.7
Spltesz, G.8
-
83
-
-
0030873772
-
Paternal uniparental isodisomy of chromosome 6 in transient neonatal diabetes mellitus
-
[Hermann R, Solteész G. 1997. Paternal uniparental isodisomy of chromosome 6 in transient neonatal diabetes mellitus. Eur J Pediatr 156:740.]
-
(1997)
Eur J Pediatr
, vol.156
, pp. 740
-
-
Hermann, R.1
Solteész, G.2
-
84
-
-
0031057955
-
Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes
-
Whiteford ML, Narendra A, White MP, Cooke A, Wilkinson AG, Robertson KJ, Tolmie JL. 1997. Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes. J Med Genet 34:167-168.
-
(1997)
J Med Genet
, vol.34
, pp. 167-168
-
-
Whiteford, M.L.1
Narendra, A.2
White, M.P.3
Cooke, A.4
Wilkinson, A.G.5
Robertson, K.J.6
Tolmie, J.L.7
-
85
-
-
0028292032
-
Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus
-
Abramowicz MJ, Andrien M, Dupont E, Dorchy H, Parma J, Duprez L, Ledley FD, Courtens W, Vamos E. 1994. Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus. J Clin Invest 94:418-421.
-
(1994)
J Clin Invest
, vol.94
, pp. 418-421
-
-
Abramowicz, M.J.1
Andrien, M.2
Dupont, E.3
Dorchy, H.4
Parma, J.5
Duprez, L.6
Ledley, F.D.7
Courtens, W.8
Vamos, E.9
-
86
-
-
18844474041
-
Neonatal diabetes mellitus caused by congenital absence of beta cells associated with methylmalonic acidemia due to uniparental disomy of chromosome 6
-
[Dorchy H. 1995. Neonatal diabetes mellitus caused by congenital absence of beta cells associated with methylmalonic acidemia due to uniparental disomy of chromosome 6. Arch Pediatr 2:188.]
-
(1995)
Arch Pediatr
, vol.2
, pp. 188
-
-
Dorchy, H.1
-
87
-
-
0029243704
-
An imprinted gene(s) for diabetes?
-
Temple IK, James RS, Crolla JA, Sitch FL, Jacobs PA, Howell WM, Betts P. 1994. An imprinted gene(s) for diabetes? Nature Genet 9:110-112.
-
(1994)
Nature Genet
, vol.9
, pp. 110-112
-
-
Temple, I.K.1
James, R.S.2
Crolla, J.A.3
Sitch, F.L.4
Jacobs, P.A.5
Howell, W.M.6
Betts, P.7
-
88
-
-
0028968840
-
A search for uniparental disomy in carriers of supernumerary marker chromosomes
-
[James RS, Temple IK, Dennis NR, Crolla JA. 1995. A search for uniparental disomy in carriers of supernumerary marker chromosomes. Eur J Hum Genet 3:21-26.
-
(1995)
Eur J Hum Genet
, vol.3
, pp. 21-26
-
-
James, R.S.1
Temple, I.K.2
Dennis, N.R.3
Crolla, J.A.4
-
89
-
-
0345122328
-
Paternal isodisomy of chromosome 6 in association with a maternal super-numerary marker chromosome (6)
-
James RS, Crolla JA, Temple IK, Sitch FL, Dennis NR. 1994. Paternal isodisomy of chromosome 6 in association with a maternal super-numerary marker chromosome (6). Am J Hum Genet 55(Suppl):610.]
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
, pp. 610
-
-
James, R.S.1
Crolla, J.A.2
Temple, I.K.3
Sitch, F.L.4
Dennis, N.R.5
-
90
-
-
0024997309
-
Uniparental isodisomy 6 associated with deficiency of the fourth component of complement
-
Welch TR, Beischel LS, Choi E, Balakrishnan K, Bishop NA. 1990. Uniparental isodisomy 6 associated with deficiency of the fourth component of complement. J Clin Invest 86:675-678.
-
(1990)
J Clin Invest
, vol.86
, pp. 675-678
-
-
Welch, T.R.1
Beischel, L.S.2
Choi, E.3
Balakrishnan, K.4
Bishop, N.A.5
-
91
-
-
14044264193
-
Detection of maternal uniparental disomy at teh two imprinted genes on chromosome 7, GRB10 and PEG1/MEST, in a Silver-Russell syndrome patient using methylation-specific PCR assays
-
Kim Y, Kim S-S, Kim G, Park S, Park IS, Yoo H-W. 2005. Detection of maternal uniparental disomy at teh two imprinted genes on chromosome 7, GRB10 and PEG1/MEST, in a Silver-Russell syndrome patient using methylation-specific PCR assays. Clin Genet 67:267-269.
-
(2005)
Clin Genet
, vol.67
, pp. 267-269
-
-
Kim, Y.1
Kim, S.-S.2
Kim, G.3
Park, S.4
Park, I.S.5
Yoo, H.-W.6
-
92
-
-
11344285560
-
Russell-Silver syndrome: Molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping
-
Chou YY, Chen CC, Kuo PL, Tsai WH, Lin SJ. 2004. Russell-Silver syndrome: Molecular diagnosis of maternal uniparental disomy of chromosome 7 using methylation-specific polymerase chain reaction assay and single nucleotide polymorphisms genotyping. J Formos Med Assoc 103(10):797-802.
-
(2004)
J Formos Med Assoc
, vol.103
, Issue.10
, pp. 797-802
-
-
Chou, Y.Y.1
Chen, C.C.2
Kuo, P.L.3
Tsai, W.H.4
Lin, S.J.5
-
93
-
-
0042320922
-
Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus
-
Bilimoria KY, Rothenberg JM. 2003. Prenatal diagnosis of a trisomy 7/maternal uniparental heterodisomy 7 mosaic fetus. Am J Med Genet 118A:60-63.
-
(2003)
Am J Med Genet
, vol.118 A
, pp. 60-63
-
-
Bilimoria, K.Y.1
Rothenberg, J.M.2
-
94
-
-
32644473611
-
Maternal UPD 7 in the case of cystic fibrosis
-
Obersztyn E, Helias-Rodzewicz Z, Sobcynska-Tomaszewska A, Bocian E, Mazurczak T. 2002. Maternal UPD 7 in the case of cystic fibrosis. Europ J Hum Genet 10(Suppl 1):P0286.
-
(2002)
Europ J Hum Genet
, vol.10
, Issue.SUPPL. 1
-
-
Obersztyn, E.1
Helias-Rodzewicz, Z.2
Sobcynska-Tomaszewska, A.3
Bocian, E.4
Mazurczak, T.5
-
95
-
-
0036707796
-
Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient
-
Dupont JM, Cuisset L, Cartigny M, Le Tessier D, Vasseur C, Rabineau D, Jeanpierre M. 2002. Familial reciprocal translocation t(7;16) associated with maternal uniparental disomy 7 in a Silver-Russell patient. Am J Med Genet 111:405-408.
-
(2002)
Am J Med Genet
, vol.111
, pp. 405-408
-
-
Dupont, J.M.1
Cuisset, L.2
Cartigny, M.3
Le Tessier, D.4
Vasseur, C.5
Rabineau, D.6
Jeanpierre, M.7
-
96
-
-
0031468078
-
PEG1 expression in maternal uniparental disomy 7
-
[Cuisset L, Le Stunff C, Dupont JM, Vasseur Ch, Cartigny M, Despert F, Delpech M, Bougnère P, Jeanpierre M. 1998. PEG1 expression in maternal uniparental disomy 7. Ann Genet 40:211-215.
-
(1998)
Ann Genet
, vol.40
, pp. 211-215
-
-
Cuisset, L.1
Le Stunff, C.2
Dupont, J.M.3
Vasseur, Ch.4
Cartigny, M.5
Despert, F.6
Delpech, M.7
Bougnère, P.8
Jeanpierre, M.9
-
97
-
-
0001235715
-
Cytogenetic and molecular studies in 32 Silver Russell syndrome patients (SRS)
-
Dupont JM, Cuisset L, Le Tessier D, Vasseur C, Récan D, Cartigny M, Despert F, Bougnère P, Jeanpierre M, Rabineau D. 1998. Cytogenetic and molecular studies in 32 Silver Russell syndrome patients (SRS). Eur J Hum Genet 6(Suppl 1):P2.113.]
-
(1998)
Eur J Hum Genet
, vol.6
, Issue.SUPPL. 1
-
-
Dupont, J.M.1
Cuisset, L.2
Le Tessier, D.3
Vasseur, C.4
Récan, D.5
Cartigny, M.6
Despert, F.7
Bougnère, P.8
Jeanpierre, M.9
Rabineau, D.10
-
98
-
-
18244389962
-
Molecular Genetic Studies of Human Chromosome 7 in Russell-Silver syndrome
-
Nakabayashi K, Fernandez BA, Teshima I, Shuman C, Proud VK, Curry CJ, Chitayat D, Grebe T, Ming J, Oshimura M, Meguro M, Mitsuya K, Deb-Rinker P, Herbrick JA, Weksberg R, Scherer SW. 2002. Molecular Genetic Studies of Human Chromosome 7 in Russell-Silver syndrome. Genomics 79:186-196.
-
(2002)
Genomics
, vol.79
, pp. 186-196
-
-
Nakabayashi, K.1
Fernandez, B.A.2
Teshima, I.3
Shuman, C.4
Proud, V.K.5
Curry, C.J.6
Chitayat, D.7
Grebe, T.8
Ming, J.9
Oshimura, M.10
Meguro, M.11
Mitsuya, K.12
Deb-Rinker, P.13
Herbrick, J.A.14
Weksberg, R.15
Scherer, S.W.16
-
99
-
-
0035216758
-
Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression
-
Miozzo M, Grati FR, Bulfamante G, Rossella F, Cribiu M, Radaelli T, Cassani B, Persico T, Cetin I, Pardi G, Simoni G. 2001. Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression. Placenta 22(10):813-21.
-
(2001)
Placenta
, vol.22
, Issue.10
, pp. 813-821
-
-
Miozzo, M.1
Grati, F.R.2
Bulfamante, G.3
Rossella, F.4
Cribiu, M.5
Radaelli, T.6
Cassani, B.7
Persico, T.8
Cetin, I.9
Pardi, G.10
Simoni, G.11
-
100
-
-
32644464831
-
Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression
-
[Miozzo M, Grati FR, Bulfamante G, Rossella F, Cribiu M, Radaelli T, Cassani B, Persico T, Ferrazzi E, Cetin I, Pardi G, Simoni G. 2001. Post-zygotic origin of complete maternal chromosome 7 isodisomy and consequent loss of placental PEG1/MEST expression. Am J Hum Genet 69(Suppl 4):2886.]
-
(2001)
Am J Hum Genet
, vol.69
, Issue.SUPPL. 4
, pp. 2886
-
-
Miozzo, M.1
Grati, F.R.2
Bulfamante, G.3
Rossella, F.4
Cribiu, M.5
Radaelli, T.6
Cassani, B.7
Persico, T.8
Ferrazzi, E.9
Cetin, I.10
Pardi, G.11
Simoni, G.12
-
101
-
-
0036181136
-
Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause
-
Hannula K, Lipsanen-Nyman M, Kristo P, Kaitila I, Simola KO, Lenko HL, Tapanainen P, Holmberg C, Kere J. 2002. Genetic screening for maternal uniparental disomy of chromosome 7 in prenatal and postnatal growth retardation of unknown cause. Pediatrics 109:441-448.
-
(2002)
Pediatrics
, vol.109
, pp. 441-448
-
-
Hannula, K.1
Lipsanen-Nyman, M.2
Kristo, P.3
Kaitila, I.4
Simola, K.O.5
Lenko, H.L.6
Tapanainen, P.7
Holmberg, C.8
Kere, J.9
-
102
-
-
32644489073
-
Screening of maternal uniparental disomy of chromosome 7 in pre- and postnatal growth retardation of unknown etiology
-
[Hannula K, Lipsanen-Nyman M, Kristo P, Kaitila I, Simola KOJ, Lenko HL, Tapanainen P, Holmberg C, Kere J. 2001. Screening of maternal uniparental disomy of chromosome 7 in pre- and postnatal growth retardation of unknown etiology. Am J Hum Genet 69(Suppl 4):2380.]
-
(2001)
Am J Hum Genet
, vol.69
, Issue.SUPPL. 4
, pp. 2380
-
-
Hannula, K.1
Lipsanen-Nyman, M.2
Kristo, P.3
Kaitila, I.4
Simola, K.O.J.5
Lenko, H.L.6
Tapanainen, P.7
Holmberg, C.8
Kere, J.9
-
103
-
-
0035058522
-
Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype?
-
Hannula K, Kere J, Pirinen S, Holmberg Ch, Lipsanen-Nyman M. 2001a. Do patients with maternal uniparental disomy for chromosome 7 have a distinct mild Silver-Russell phenotype? J Med Genet 38:273-278.
-
(2001)
J Med Genet
, vol.38
, pp. 273-278
-
-
Hannula, K.1
Kere, J.2
Pirinen, S.3
Holmberg, Ch.4
Lipsanen-Nyman, M.5
-
104
-
-
32644474345
-
Phenotypic analysis of Silver-Russell syndrome patients with maternal uniparental disomy for chromosome 7
-
[Hannula KSE, Kere J, Pirinen S, Holmberg C, Lipsanen-Nyman M. 2000. Phenotypic analysis of Silver-Russell syndrome patients with maternal uniparental disomy for chromosome 7. Am J Hum Genet 67(Suppl 2):2052.
-
(2000)
Am J Hum Genet
, vol.67
, Issue.SUPPL. 2
, pp. 2052
-
-
Hannula, K.S.E.1
Kere, J.2
Pirinen, S.3
Holmberg, C.4
Lipsanen-Nyman, M.5
-
105
-
-
0001229110
-
Maternal uniparental disomy of chromosome 7 is confined to cases with Silver-Russell syndrome in children with growth retardation of unknown etiology
-
Hannula K, Lipsanen-Nyman M, Höglund P, Holmberg C, Kere J. 1999. Maternal uniparental disomy of chromosome 7 is confined to cases with Silver-Russell syndrome in children with growth retardation of unknown etiology. Am J Hum Genet 65(Suppl):1525.]
-
(1999)
Am J Hum Genet
, vol.65
, Issue.SUPPL.
, pp. 1525
-
-
Hannula, K.1
Lipsanen-Nyman, M.2
Höglund, P.3
Holmberg, C.4
Kere, J.5
-
106
-
-
0035168178
-
A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region
-
Hannula K, Lipsanen-Nyman M, Kontiokari T, Kere J. 2001b. A narrow segment of maternal uniparental disomy of chromosome 7q31-qter in Silver-Russell syndrome delimits a candidate gene region. Am J Hum Genet 68:247-253.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 247-253
-
-
Hannula, K.1
Lipsanen-Nyman, M.2
Kontiokari, T.3
Kere, J.4
-
107
-
-
32644470032
-
Uniparental disomy, molecular and social difficulties in interpretation
-
Ravine D, Lazarou LP, Fisher PJ, Doull IJM, Mac Donald M, Thompson PW, Gill H, Meredith AL, Clarke A, Little E. 2000. Uniparental disomy, molecular and social difficulties in interpretation. J Med Genet 37(Suppl):4.37.
-
(2000)
J Med Genet
, vol.37
, Issue.SUPPL.
-
-
Ravine, D.1
Lazarou, L.P.2
Fisher, P.J.3
Ijm, D.4
Mac Donald, M.5
Thompson, P.W.6
Gill, H.7
Meredith, A.L.8
Clarke, A.9
Little, E.10
-
108
-
-
0033710341
-
Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7
-
Potgieter S, Matthijs G, De Cock P, Fryns J-P. 2000. Preaxial polydactyly type 1 and severe language deficit in maternal uniparental disomy of chromosome 7. Europ J Pediatr 159:929.
-
(2000)
Europ J Pediatr
, vol.159
, pp. 929
-
-
Potgieter, S.1
Matthijs, G.2
De Cock, P.3
Fryns, J.-P.4
-
109
-
-
0034119613
-
Formation of uniparental disomy 7 delinated from new cases and a UPD 7 case after trisomy 7 rescue. Presentation of own results and review of the literature
-
Mergenthaler S, Wollmann HA, Burger B, Eggermann K, Kaiser P, Ranke MB, Schwanitz G, Eggermann T. 2000. Formation of uniparental disomy 7 delinated from new cases and a UPD 7 case after trisomy 7 rescue. Presentation of own results and review of the literature. Ann Genet 43:15-21.
-
(2000)
Ann Genet
, vol.43
, pp. 15-21
-
-
Mergenthaler, S.1
Wollmann, H.A.2
Burger, B.3
Eggermann, K.4
Kaiser, P.5
Ranke, M.B.6
Schwanitz, G.7
Eggermann, T.8
-
110
-
-
0013686331
-
Origin of trisomy 7: Studies on formation of uniparental disomy 7 and a case of confined placental mosaicism for trisomy 7
-
[Mergenthaler S, Wollmann HA, Schartmann B, Eggermann K, Kaiser P, Ranke MB, Schwanitz G, Eggermann T. 1999. Origin of trisomy 7: Studies on formation of uniparental disomy 7 and a case of confined placental mosaicism for trisomy 7. Medgen 11(200):P7-P77.]
-
(1999)
Medgen
, vol.11
, Issue.200
-
-
Mergenthaler, S.1
Wollmann, H.A.2
Schartmann, B.3
Eggermann, K.4
Kaiser, P.5
Ranke, M.B.6
Schwanitz, G.7
Eggermann, T.8
-
111
-
-
0034061155
-
Silver-Russell syndrome and cystic fibrosis associated with uniparental disomy 7
-
Hehr U, Dörr S, Hagemann M, Hansmann I, Preiss U, Brömme S. 2000. Silver-Russell syndrome and cystic fibrosis associated with uniparental disomy 7. Am J Med Genet 91:237-239.
-
(2000)
Am J Med Genet
, vol.91
, pp. 237-239
-
-
Hehr, U.1
Dörr, S.2
Hagemann, M.3
Hansmann, I.4
Preiss, U.5
Brömme, S.6
-
112
-
-
32644486213
-
Silver-Russell syndrome and cystic fibrosis caused by maternal uniparental disomy 7
-
[Hehr U, Brömme S, Dörr S, Hagemann M, Preiss U, Hansmann I. 1999. Silver-Russell syndrome and cystic fibrosis caused by maternal uniparental disomy 7. Am J Hum Genet 65(Suppl):821.
-
(1999)
Am J Hum Genet
, vol.65
, Issue.SUPPL.
, pp. 821
-
-
Hehr, U.1
Brömme, S.2
Dörr, S.3
Hagemann, M.4
Preiss, U.5
Hansmann, I.6
-
113
-
-
0343956517
-
Silver-Russell syndrome and cystic fibrosis caused by maternal uniparental disomy 7
-
Hehr U, Brömme S, Dörr S, Hagemann M, Preiss U, Hansmann I. 1999. Silver-Russell syndrome and cystic fibrosis caused by maternal uniparental disomy 7. Medgen 11(143):P1-P13.]
-
(1999)
Medgen
, vol.11
, Issue.143
-
-
Hehr, U.1
Brömme, S.2
Dörr, S.3
Hagemann, M.4
Preiss, U.5
Hansmann, I.6
-
114
-
-
0344541708
-
Clinical and molecular findings in two patients with Russell-Silver syndrome and UPD7
-
Bernard LE, Penaherrera MS, Van Allen MI, Wang MS, Yong S-L, Gareis F, Langlois S, Robinson WP. 1999. Clinical and molecular findings in two patients with Russell-Silver syndrome and UPD7. Am J Med Genet 87:230-236.
-
(1999)
Am J Med Genet
, vol.87
, pp. 230-236
-
-
Bernard, L.E.1
Penaherrera, M.S.2
Van Allen, M.I.3
Wang, M.S.4
Yong, S.-L.5
Gareis, F.6
Langlois, S.7
Robinson, W.P.8
-
115
-
-
0034113750
-
Maternal uniparental disomy 7: Review and further delineation of the phenotype
-
Kotzot D, Balmer D, Baumer A, Chrzanowska K, Hamel BCJ, Ilyina H, Krajewska-Walasek M, Otten BJ, Lurie IW, Otten BJ, Schoenle E, Tariverdian G, Schinzel A. 2000. Maternal uniparental disomy 7: Review and further delineation of the phenotype. Eur J Pediatr 159:247-256.
-
(2000)
Eur J Pediatr
, vol.159
, pp. 247-256
-
-
Kotzot, D.1
Balmer, D.2
Baumer, A.3
Chrzanowska, K.4
Hamel, B.C.J.5
Ilyina, H.6
Krajewska-Walasek, M.7
Otten, B.J.8
Lurie, I.W.9
Otten, B.J.10
Schoenle, E.11
Tariverdian, G.12
Schinzel, A.13
-
116
-
-
0034684724
-
The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age
-
[Ginsburg C, Fokstuen S, Schinzel A. 2000. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age. Am J Med Genet 95:454-460.
-
(2000)
Am J Med Genet
, vol.95
, pp. 454-460
-
-
Ginsburg, C.1
Fokstuen, S.2
Schinzel, A.3
-
117
-
-
32644455443
-
Maternal uniparental disomy 7: Report of 9 cases and further delineation of the phenotype
-
Achermann S, Balmer D, Baumer A, Chrzanowska K, Fokstuen S, Hamel B, Ilyina H, Krajewska-Walasek M, Otten BJ, Schoenle E, Tariverdian G, Schinzel A, Kotzot D. 1999. Maternal uniparental disomy 7: Report of 9 cases and further delineation of the phenotype. Europ J Hum Genet 7(Suppl 1) (48):P-096.
-
(1999)
Europ J Hum Genet
, vol.7
, Issue.48 SUPPL. 1
-
-
Achermann, S.1
Balmer, D.2
Baumer, A.3
Chrzanowska, K.4
Fokstuen, S.5
Hamel, B.6
Ilyina, H.7
Krajewska-Walasek, M.8
Otten, B.J.9
Schoenle, E.10
Tariverdian, G.11
Schinzel, A.12
Kotzot, D.13
-
118
-
-
0342650399
-
Uniparental disomy 7 in Silver-Russell syndrome
-
Tariverdian G, Voigtländer T, Emmerich D, Bernasconi F, Schinzel A. 1996. Uniparental disomy 7 in Silver-Russell syndrome. Med Genetik 8:1(73): W9-W25.]
-
(1996)
Med Genetik
, vol.8
, Issue.1-73
-
-
Tariverdian, G.1
Voigtländer, T.2
Emmerich, D.3
Bernasconi, F.4
Schinzel, A.5
-
119
-
-
0033042181
-
An analysis of the distribution of hetero- and iso-disomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands
-
Preece MA, Abu-Amero SN, Ali Z, Abu-Amero KK, Wakeling EL, Stanier P. 1999. An analysis of the distribution of hetero- and iso-disomic regions of chromosome 7 in five mUPD7 Silver-Russell syndrome probands. J Med Genet 36:457-460.
-
(1999)
J Med Genet
, vol.36
, pp. 457-460
-
-
Preece, M.A.1
Abu-Amero, S.N.2
Ali, Z.3
Abu-Amero, K.K.4
Wakeling, E.L.5
Stanier, P.6
-
120
-
-
0035318134
-
No evidence for mosaicism in Silver-Russell syndrome
-
[Monk D, Hitchins M, Russo S, Preece M, Stanier Ph, Moore GE. 2001. No evidence for mosaicism in Silver-Russell syndrome. J Med Genet 38:e11.]
-
(2001)
J Med Genet
, vol.38
-
-
Monk, D.1
Hitchins, M.2
Russo, S.3
Preece, M.4
Stanier, Ph.5
Moore, G.E.6
-
121
-
-
0005565359
-
Systematic mapping of balanced chromosome rearrangements in association with Silver-Russell syndrome (RSS)
-
Dörr S, Ayala-Madrigal ML, Midro AT, Giannakudis J, Hansmann I. 1999. Systematic mapping of balanced chromosome rearrangements in association with Silver-Russell syndrome (RSS). Am J Hum Genet 65(Suppl):378.
-
(1999)
Am J Hum Genet
, vol.65
, Issue.SUPPL.
, pp. 378
-
-
Dörr, S.1
Ayala-Madrigal, M.L.2
Midro, A.T.3
Giannakudis, J.4
Hansmann, I.5
-
122
-
-
0013670362
-
Search for candidate gene for Russell-Silver syndrome (RSS) on chromosome 17
-
[Dörr S, Midro AT, Ayala-Madrigal ML, Giannakudis J, Hansmann I. 1999. Search for candidate gene for Russell-Silver syndrome (RSS) on chromosome 17. Medgen 11(164):P4-P10.]
-
(1999)
Medgen
, vol.11
, Issue.164
-
-
Dörr, S.1
Midro, A.T.2
Ayala-Madrigal, M.L.3
Giannakudis, J.4
Hansmann, I.5
-
123
-
-
0032958525
-
47,XX,UPD(7)mat, + r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): Possible exclusion of the putative SRS gene from a 7p13-q11 region
-
Miyoshi O, Kondoh T, Taneda H, Otsuka K, Matsumoto T, Niikawa N. 1999. 47,XX,UPD(7)mat, + r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): Possible exclusion of the putative SRS gene from a 7p13-q11 region. J Med Genet 36:326-329.
-
(1999)
J Med Genet
, vol.36
, pp. 326-329
-
-
Miyoshi, O.1
Kondoh, T.2
Taneda, H.3
Otsuka, K.4
Matsumoto, T.5
Niikawa, N.6
-
124
-
-
0033935846
-
Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression
-
Russo S, Bedeschi MF, Cogliati F, Natacci F, Gianotti A, Parini R, Selicorni A, Larizza L. 2000. Maternal chromosome 7 hetero/isodisomy in Silver-Russell syndrome and PEG1 biallelic expression. Clin Dysmorph 9:157-162.
-
(2000)
Clin Dysmorph
, vol.9
, pp. 157-162
-
-
Russo, S.1
Bedeschi, M.F.2
Cogliati, F.3
Natacci, F.4
Gianotti, A.5
Parini, R.6
Selicorni, A.7
Larizza, L.8
-
125
-
-
0003302724
-
Uniparental disomy and PEG1/MEST gene in Silver-Russell syndrome
-
Cogliati F, Russo S, Macchi M, Selicorni A, Bedeschi MF, Natacci F, Parini R, Larizza L. 1998. Uniparental disomy and PEG1/MEST gene in Silver-Russell syndrome. Eur J Hum Genet 6(Suppl 1):P4.217.
-
(1998)
Eur J Hum Genet
, vol.6
, Issue.SUPPL. 1
-
-
Cogliati, F.1
Russo, S.2
Macchi, M.3
Selicorni, A.4
Bedeschi, M.F.5
Natacci, F.6
Parini, R.7
Larizza, L.8
-
126
-
-
0030930299
-
Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy
-
Eggermann T, Wollmann HA, Kuner R, Eggermann K, Enders H, Kaiser P, Ranke MB. 1997. Molecular studies in 37 Silver-Russell syndrome patients: Frequency and etiology of uniparental disomy. Hum Genet 100:415-419.
-
(1997)
Hum Genet
, vol.100
, pp. 415-419
-
-
Eggermann, T.1
Wollmann, H.A.2
Kuner, R.3
Eggermann, K.4
Enders, H.5
Kaiser, P.6
Ranke, M.B.7
-
127
-
-
0344259907
-
Three cases of maternal uniparental disomy in 37 patients with Silver-Russell syndrome
-
Kuner R, Eggermann T, Eggermann K, Mergenthaler S, Enders H, Kaiser P, Ranke MB, Wollmann HA. 1997. Three cases of maternal uniparental disomy in 37 patients with Silver-Russell syndrome. Med Genetik 9(109):P10-P49.
-
(1997)
Med Genetik
, vol.9
, Issue.109
-
-
Kuner, R.1
Eggermann, T.2
Eggermann, K.3
Mergenthaler, S.4
Enders, H.5
Kaiser, P.6
Ranke, M.B.7
Wollmann, H.A.8
-
128
-
-
0031036341
-
Maternal uniparental disomy 7 in Silver-Russell syndrome
-
Preece MA, Price SM, Davies V, Clough L, Stanier P, Trembath RC, Moore GE. 1997. Maternal uniparental disomy 7 in Silver-Russell syndrome. J Med Genet 34:6-9.
-
(1997)
J Med Genet
, vol.34
, pp. 6-9
-
-
Preece, M.A.1
Price, S.M.2
Davies, V.3
Clough, L.4
Stanier, P.5
Trembath, R.C.6
Moore, G.E.7
-
129
-
-
0032758850
-
The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria
-
[Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. 2000. The spectrum of Silver-Russell syndrome: A clinical and molecular genetic study and new diagnostic criteria. J Med Genet 36:837-842.]
-
(2000)
J Med Genet
, vol.36
, pp. 837-842
-
-
Price, S.M.1
Stanhope, R.2
Garrett, C.3
Preece, M.A.4
Trembath, R.C.5
-
130
-
-
0001504678
-
Chromosome 7 uniparental disomy in Silver-Russell syndrome
-
Shuman C, Weksberg R, Nedelcu R, Northey A, Scherer S. 1996. Chromosome 7 uniparental disomy in Silver-Russell syndrome. Am J Hum Genet 59(Suppl):1648.
-
(1996)
Am J Hum Genet
, vol.59
, Issue.SUPPL.
, pp. 1648
-
-
Shuman, C.1
Weksberg, R.2
Nedelcu, R.3
Northey, A.4
Scherer, S.5
-
131
-
-
0028914364
-
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
-
Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lurie IW, Ilyina H, Mehes K, Hamel BCJ, Otten BJ, Hergersberg M, Werder E, Schönle E, Schinzel A. 1995. Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation. Hum Mol Genet 4:583-587.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 583-587
-
-
Kotzot, D.1
Schmitt, S.2
Bernasconi, F.3
Robinson, W.P.4
Lurie, I.W.5
Ilyina, H.6
Mehes, K.7
Hamel, B.C.J.8
Otten, B.J.9
Hergersberg, M.10
Werder, E.11
Schönle, E.12
Schinzel, A.13
-
132
-
-
0344691631
-
Uniparental disomy 7 in 2 out of 23 patients with Silver-Russell-like phenotype
-
[Kotzot D, Robinson WP, Lurie JW, Schinzel AA. 1994. Uniparental disomy 7 in 2 out of 23 patients with Silver-Russell-like phenotype. Genet Counsel 6:81.1
-
(1994)
Genet Counsel
, vol.6
-
-
Kotzot, D.1
Robinson, W.P.2
Lurie, J.W.3
Schinzel, A.A.4
-
133
-
-
0028867372
-
Prenatal and postnatal failure associated with maternal heterodisomy for chromosome 7
-
Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK. 1995. Prenatal and postnatal failure associated with maternal heterodisomy for chromosome 7. J Med Genet 32:871-875.
-
(1995)
J Med Genet
, vol.32
, pp. 871-875
-
-
Langlois, S.1
Yong, S.L.2
Wilson, R.D.3
Kwong, L.C.4
Kalousek, D.K.5
-
134
-
-
0029852041
-
Trisomy 7 CVS mosaicism: Pregnancy outcome, placental and DNA analysis in 14 cases
-
Kalousek KL, Langlois S, Robinson WP, Telenius A, Bernard L, Barrett IJ, Howard-Peebles PN, Wilson RD. 1996. Trisomy 7 CVS mosaicism: Pregnancy outcome, placental and DNA analysis in 14 cases. Am J Med Genet 65:348-352.
-
(1996)
Am J Med Genet
, vol.65
, pp. 348-352
-
-
Kalousek, K.L.1
Langlois, S.2
Robinson, W.P.3
Telenius, A.4
Bernard, L.5
Barrett, I.J.6
Howard-Peebles, P.N.7
Wilson, R.D.8
-
135
-
-
0026749549
-
Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLIA2 locus
-
Spotila LD, Sereda L, Prockop DJ. 1992. Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COLIA2 locus. Am J Hum Genet 51:1396-1405.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 1396-1405
-
-
Spotila, L.D.1
Sereda, L.2
Prockop, D.J.3
-
136
-
-
0024463137
-
Isodisomy for chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans?
-
Voss R, Ben-Simon E, Avital A, Godrey S, Zlotogora J, Dagan J, Tikochinski Y, Hillel J. 1989. Isodisomy for chromosome 7 in a patient with cystic fibrosis: Could uniparental disomy be common in humans? Am J Hum Genet 45:373-380.
-
(1989)
Am J Hum Genet
, vol.45
, pp. 373-380
-
-
Voss, R.1
Ben-Simon, E.2
Avital, A.3
Godrey, S.4
Zlotogora, J.5
Dagan, J.6
Tikochinski, Y.7
Hillel, J.8
-
137
-
-
0023897290
-
Uniparental disomy as a mechanism for human genetic disease
-
Spence JE, Perciaccante RG, Greig GM, Huntington FW, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Beaudet AL. 1988. Uniparental disomy as a mechanism for human genetic disease. Am J Hum Genet 42:217-226.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 217-226
-
-
Spence, J.E.1
Perciaccante, R.G.2
Greig, G.M.3
Huntington, F.W.4
Ledbetter, D.H.5
Hejtmancik, J.F.6
Pollack, M.S.7
O'Brien, W.E.8
Beaudet, A.L.9
-
138
-
-
0025729683
-
Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy
-
[Beaudet AL, Periciaccante RG, Cutting GR. 1991. Homozygous nonsense mutation causing cystic fibrosis with uniparental disomy. Am J Hum Genet 48:1213.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1213
-
-
Beaudet, A.L.1
Periciaccante, R.G.2
Cutting, G.R.3
-
139
-
-
0018990703
-
Isolated growth hormone deficiency and cystic fibrosis: A report of two cases
-
Hubbard VS, Davis PB, di Sant' Agnese PA, Gorden P, Schwartz RH. 1980. Isolated growth hormone deficiency and cystic fibrosis: A report of two cases. Am J Dis Child 134(3):317-319.]
-
(1980)
Am J Dis Child
, vol.134
, Issue.3
, pp. 317-319
-
-
Hubbard, V.S.1
Davis, P.B.2
Di Sant'Agnese, P.A.3
Gorden, P.4
Schwartz, R.H.5
-
140
-
-
0031778075
-
Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia
-
Pan Y, McCaskill ChD, Thompson KH, Hicks J, Casey B, Shaffer LG, Craigen WJ. 1998. Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet 62:1551-1555.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1551-1555
-
-
Pan, Y.1
McCaskill, Ch.D.2
Thompson, K.H.3
Hicks, J.4
Casey, B.5
Shaffer, L.G.6
Craigen, W.J.7
-
141
-
-
0345553721
-
Paternal uniparental disomy of chromosome 7 associated with complete situs inversus and immotile cilia
-
[Pan Y, McCaskill ChD, Harrisom GM, Hicks J, Casey B, Shaffer LG, Craigen WJ. 1996. Paternal uniparental disomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet 59(Suppl):547.]
-
(1996)
Am J Hum Genet
, vol.59
, Issue.SUPPL.
, pp. 547
-
-
Pan, Y.1
McCaskill, Ch.D.2
Harrisom, G.M.3
Hicks, J.4
Casey, B.5
Shaffer, L.G.6
Craigen, W.J.7
-
142
-
-
0028111681
-
Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea
-
Höglund P, Holmberg Ch, de la Chapelle A, Kere J. 1994. Paternal isodisomy for chromosome 7 is compatible with normal growth and development in a patient with congenital chloride diarrhea. Am J Hum Genet 55:747-752.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 747-752
-
-
Höglund, P.1
Holmberg, Ch.2
De La Chapelle, A.3
Kere, J.4
-
143
-
-
0034640657
-
Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor
-
Karanjawala Z, Kääriäinen H, Ghosh S, Tannenbaum J, Martin C, Ally D, Tuomilehto J, Valle T, Collins FS. 2000. Complete maternal isodisomy of chromosome 8 in an individual with an early-onset ileal carcinoid tumor. Am J Med Genet 93:207-210.
-
(2000)
Am J Med Genet
, vol.93
, pp. 207-210
-
-
Karanjawala, Z.1
Kääriäinen, H.2
Ghosh, S.3
Tannenbaum, J.4
Martin, C.5
Ally, D.6
Tuomilehto, J.7
Valle, T.8
Collins, F.S.9
-
144
-
-
0004190581
-
Uniparental disomy of chromosome 8 due to a pseudodicentric chromosome: Possible mechanisms and consequences
-
Turleau C, Viot G, Burglen L, Caillez D, Layet V, Chauveau P, Faivre L, Morichon N, Delezoide A-L, Prieur M, Munnich A, Vekemans M. 1998. Uniparental disomy of chromosome 8 due to a pseudodicentric chromosome: Possible mechanisms and consequences. Am J Hum Genet 63(Suppl):865.
-
(1998)
Am J Hum Genet
, vol.63
, Issue.SUPPL.
, pp. 865
-
-
Turleau, C.1
Viot, G.2
Burglen, L.3
Caillez, D.4
Layet, V.5
Chauveau, P.6
Faivre, L.7
Morichon, N.8
Delezoide, A.-L.9
Prieur, M.10
Munnich, A.11
Vekemans, M.12
-
145
-
-
0030950630
-
Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): Imprinting effect or nullisomy for distal 8p genes?
-
Piantanida M, Dellavecchia C, Floridia G, Giglio S, Hoeller H, Dordi B, Danesino C, Schinzel A, Zuffardi O. 1997. Ataxic gait and mental retardation with absence of the paternal chromosome 8 and an idic(8)(p23.3): Imprinting effect or nullisomy for distal 8p genes? Hum Genet 99:766-771.
-
(1997)
Hum Genet
, vol.99
, pp. 766-771
-
-
Piantanida, M.1
Dellavecchia, C.2
Floridia, G.3
Giglio, S.4
Hoeller, H.5
Dordi, B.6
Danesino, C.7
Schinzel, A.8
Zuffardi, O.9
-
146
-
-
0029814070
-
Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency
-
Benlian P, Foubert L, Gagné E, Bernard L, De Gennes JL, Langlois S, Robinson WP, Hayden M. 1996. Complete paternal isodisomy for chromosome 8 unmasked by lipoprotein lipase deficiency. Am J Hum Genet 59:431-436.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 431-436
-
-
Benlian, P.1
Foubert, L.2
Gagné, E.3
Bernard, L.4
De Gennes, J.L.5
Langlois, S.6
Robinson, W.P.7
Hayden, M.8
-
147
-
-
0035712607
-
Low incidence of UPD in spontaneous abortions beyond the 5th gestational week
-
Fritz B, Aslan M, Kalscheuer V, Ramsing M, Saar K, Fuchs B, Rehder H. 2001. Low incidence of UPD in spontaneous abortions beyond the 5th gestational week. Eur J Hum Genet 9:910-916.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 910-916
-
-
Fritz, B.1
Aslan, M.2
Kalscheuer, V.3
Ramsing, M.4
Saar, K.5
Fuchs, B.6
Rehder, H.7
-
148
-
-
0035869201
-
Detailed characterization of 12 super-numerary ring chromosomes using micro-FISH and search for uniparental disomy
-
Anderlid B-M, Sahlen S, Schoumans J, Holmberg E, Ahsgren I, Mortier G, Speleman F, Blennow E. 2001. Detailed characterization of 12 super-numerary ring chromosomes using micro-FISH and search for uniparental disomy. Am J Med Genet 99:223-233.
-
(2001)
Am J Med Genet
, vol.99
, pp. 223-233
-
-
Anderlid, B.-M.1
Sahlen, S.2
Schoumans, J.3
Holmberg, E.4
Ahsgren, I.5
Mortier, G.6
Speleman, F.7
Blennow, E.8
-
149
-
-
0033659139
-
A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy
-
Slater HR, Ralph A, Daniel A, Worthington S, Roberts C. 2000. A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy. Prenat Diagn 20:930-932.
-
(2000)
Prenat Diagn
, vol.20
, pp. 930-932
-
-
Slater, H.R.1
Ralph, A.2
Daniel, A.3
Worthington, S.4
Roberts, C.5
-
150
-
-
0033462139
-
Leigh syndrome transmitted by uniparental disomy of chromosome 9
-
Tiranti V, Lamantea E, Uziel G, Zeviani M, Gasparini P, Marzella R, Rocchi M, Friel M. 1999. Leigh syndrome transmitted by uniparental disomy of
-
(1999)
J Med Genet
, vol.36
, pp. 927-928
-
-
Tiranti, V.1
Lamantea, E.2
Uziel, G.3
Zeviani, M.4
Gasparini, P.5
Marzella, R.6
Rocchi, M.7
Friel, M.8
-
151
-
-
0344131427
-
Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: I(9p) and i(9q)
-
Björck EJ, Anderlid B-M, Blennow E. 1999. Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with two isochromosomes: i(9p) and i(9q). Am J Med Genet 87:49-52.
-
(1999)
Am J Med Genet
, vol.87
, pp. 49-52
-
-
Björck, E.J.1
Anderlid, B.-M.2
Blennow, E.3
-
152
-
-
32644469078
-
Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with isochromosome i(9p) and i(9q)
-
[Anderlid BM, Björck EJ, Blennow E. 1999. Maternal isodisomy of chromosome 9 with no impact on the phenotype in a woman with isochromosome i(9p) and i(9q). Cytogenet Cell Genet 85(137):P566.]
-
(1999)
Cytogenet Cell Genet
, vol.85
, Issue.137
-
-
Anderlid, B.M.1
Björck, E.J.2
Blennow, E.3
-
153
-
-
0030988550
-
Uniparental disomy in cartilago-hair hypoplasia
-
Sulisalo T, Män P, Ridanpää M, El-Rifai W, Ruuskanen O, de la Chapelle A, Kaitila I. 1997. Uniparental disomy in cartilago-hair hypoplasia. Eur J Hum Genet 5:35-42.
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 35-42
-
-
Sulisalo, T.1
Män, P.2
Ridanpää, M.3
El-Rifai, W.4
Ruuskanen, O.5
De La Chapelle, A.6
Kaitila, I.7
-
154
-
-
0344691629
-
Uniparental disomy as an explanation of presumptive low penetrance
-
[Sulisalo T, de la Chapelle A, Kaitila I. 1994. Uniparental disomy as an explanation of presumptive low penetrance. Am J Hum Genet 55(Suppl):27.]
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
, pp. 27
-
-
Sulisalo, T.1
De La Chapelle, A.2
Kaitila, I.3
-
155
-
-
0029886674
-
A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9
-
Wilkinson TA, James RS, Crolla JA, Cockwell AE, Campbell PL, Temple IK. 1996. A case of maternal uniparental disomy of chromosome 9 in association with confined placental mosaicism for trisomy 9. Prenat Diagn 16:371-374.
-
(1996)
Prenat Diagn
, vol.16
, pp. 371-374
-
-
Wilkinson, T.A.1
James, R.S.2
Crolla, J.A.3
Cockwell, A.E.4
Campbell, P.L.5
Temple, I.K.6
-
156
-
-
0026709441
-
A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line
-
Willatt IR, Davison BCC, Goudie D, Alexander J, Dyson HM, Jenks PE, Ferguson-Smith ME. 1992. A male with trisomy 9 mosaicism and maternal uniparental disomy for chromosome 9 in the euploid cell line. J Med Genet 29:742-744.
-
(1992)
J Med Genet
, vol.29
, pp. 742-744
-
-
Willatt, I.R.1
Davison, B.C.C.2
Goudie, D.3
Alexander, J.4
Dyson, H.M.5
Jenks, P.E.6
Ferguson-Smith, M.E.7
-
157
-
-
32644458345
-
Prenatally diagnosed trisomy 9 mosaicism and paternal uniparental disomy 9 in the child
-
Van der Hagen CB, Eiklid K, Orstavik KH, Braaten O, Prescott T, Kroken M, Husby H, Helbig A, Solberg R. 2003. Prenatally diagnosed trisomy 9 mosaicism and paternal uniparental disomy 9 in the child. Europ J Hum Genet 11(Suppl):P409.
-
(2003)
Europ J Hum Genet
, vol.11
, Issue.SUPPL.
-
-
Van Der Hagen, C.B.1
Eiklid, K.2
Orstavik, K.H.3
Braaten, O.4
Prescott, T.5
Kroken, M.6
Husby, H.7
Helbig, A.8
Solberg, R.9
-
158
-
-
22144434611
-
A rare mosaicism for paternal UPD 9 in a dizygotic twin pregnancy
-
Kaiser-Rogers KA, Robinson WP, Knops JF, Vargo D, Livasy CA, Bailit J, Rao KW. 2002. A rare mosaicism for paternal UPD 9 in a dizygotic twin pregnancy. Am J Hum Genet 71(Suppl 4):782.
-
(2002)
Am J Hum Genet
, vol.71
, Issue.SUPPL. 4
, pp. 782
-
-
Kaiser-Rogers, K.A.1
Robinson, W.P.2
Knops, J.F.3
Vargo, D.4
Livasy, C.A.5
Bailit, J.6
Rao, K.W.7
-
159
-
-
0036100361
-
Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus
-
Schlegel M, Baumer A, Riegel M, Wiedemann U, Schinzel A. 2002. Maternal uniparental isodisomy 10 and mosaicism for an additional marker chromosome derived from the paternal chromosome 10 in a fetus. Prenat Diagn 22:418-421.
-
(2002)
Prenat Diagn
, vol.22
, pp. 418-421
-
-
Schlegel, M.1
Baumer, A.2
Riegel, M.3
Wiedemann, U.4
Schinzel, A.5
-
160
-
-
0029117386
-
Identification of a case of maternal disomy of chromosome 10 associated with confined placental mosaicism
-
Jones C, Booth C, Rita D, Jazmines L, Spiro R, Mc Culloch B, Mc Caskill Ch, Shaffer LG. 1995. Identification of a case of maternal disomy of chromosome 10 associated with confined placental mosaicism. Prenat Diagn 15:843-848.
-
(1995)
Prenat Diagn
, vol.15
, pp. 843-848
-
-
Jones, C.1
Booth, C.2
Rita, D.3
Jazmines, L.4
Spiro, R.5
Mc Culloch, B.6
Mc Caskill, Ch.7
Shaffer, L.G.8
-
161
-
-
0342839635
-
Identification of a case of maternal uniparental disomy for chromosome 10 associated with confined placental mosaicism and normal outcome
-
[Shaffer LG, Booth C, Rita D, Jazmines L, Spiro R, McCullough B, McCaskill C, Jones C. 1995. Identification of a case of maternal uniparental disomy for chromosome 10 associated with confined placental mosaicism and normal outcome. Am J Hum Genet 57(Suppl):1675.]
-
(1995)
Am J Hum Genet
, vol.57
, Issue.SUPPL.
, pp. 1675
-
-
Shaffer, L.G.1
Booth, C.2
Rita, D.3
Jazmines, L.4
Spiro, R.5
McCullough, B.6
McCaskill, C.7
Jones, C.8
-
162
-
-
0344691603
-
Unusual clinical presentation associated with uniparental disomy of chromosome 10 in a child presymptomatic for multiple endocrine neoplasia type 2A
-
Kousseff BG, Gallardo LA, Mueller OT. 1992. Unusual clinical presentation associated with uniparental disomy of chromosome 10 in a child presymptomatic for multiple endocrine neoplasia type 2A. Am J Hum Genet 51(Suppl):863.
-
(1992)
Am J Hum Genet
, vol.51
, Issue.SUPPL.
, pp. 863
-
-
Kousseff, B.G.1
Gallardo, L.A.2
Mueller, O.T.3
-
163
-
-
0032511642
-
Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11
-
Dutly F, Baumer A, Kayserili H, Yüksel-Apak M, Zerova T, Schinzel A. 1998. Seven cases of Wiedemann-Beckwith syndrome, including the first reported case of mosaic paternal isodisomy along the whole chromosome 11. Am J Med Genet 79:347-353.
-
(1998)
Am J Med Genet
, vol.79
, pp. 347-353
-
-
Dutly, F.1
Baumer, A.2
Kayserili, H.3
Yüksel-Apak, M.4
Zerova, T.5
Schinzel, A.6
-
164
-
-
0029028023
-
A case of paternal uniparental disomy for chromosome 11
-
Webb A, Beard J, Wright C, Robson S, Wolstenholme J, Goodship J. 1995b. A case of paternal uniparental disomy for chromosome 11. Prenat Diagn 15:773-777.
-
(1995)
Prenat Diagn
, vol.15
, pp. 773-777
-
-
Webb, A.1
Beard, J.2
Wright, C.3
Robson, S.4
Wolstenholme, J.5
Goodship, J.6
-
165
-
-
0036071365
-
Maternal uniparental disomy 12 in a healthy girl with a 47,XX, + der(12)(:p11 → q11:)/46,XX karyotype
-
Von Eggeling F, Hoppe C, Bartz U, Starke H, Houge G, Claussen U, Ernst G, Kotzot D, Liehr T. 2002. Maternal uniparental disomy 12 in a healthy girl with a 47,XX, + der(12)(:p11 → q11:)/46,XX karyotype. J Med Genet 39:519-521.
-
(2002)
J Med Genet
, vol.39
, pp. 519-521
-
-
Von Eggeling, F.1
Hoppe, C.2
Bartz, U.3
Starke, H.4
Houge, G.5
Claussen, U.6
Ernst, G.7
Kotzot, D.8
Liehr, T.9
-
166
-
-
0041326341
-
Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin 26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients
-
Alvarez A, Del Castillo I, Pera A, Villamar M, Moreno-Pelayo MA, Rivera T, Solanellas J, Moreno F. 2003. Uniparental disomy of chromosome 13q causing homozygosity for the 35delG mutation in the gene encoding connexin 26 (GJB2) results in prelingual hearing impairment in two unrelated Spanish patients. J Med Genet 40:636-639.
-
(2003)
J Med Genet
, vol.40
, pp. 636-639
-
-
Alvarez, A.1
Del Castillo, I.2
Pera, A.3
Villamar, M.4
Moreno-Pelayo, M.A.5
Rivera, T.6
Solanellas, J.7
Moreno, F.8
-
167
-
-
0033926871
-
Identification of uniparental disomy following prenatal detection of robertsonian translocations and isochromosomes
-
Berend SA, Horwitz J, McCaskill Ch, Shaffer LG. 2000b. Identification of uniparental disomy following prenatal detection of robertsonian translocations and isochromosomes. Am J Hum Genet 66:1787-1793.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1787-1793
-
-
Berend, S.A.1
Horwitz, J.2
McCaskill, Ch.3
Shaffer, L.G.4
-
168
-
-
0029030255
-
Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q)
-
Stallard R, Krueger S, James RS, Schwartz S. 1995. Uniparental isodisomy 13 in a normal female due to transmission of a maternal t(13q13q). Am J Med Genet 57:14-18.
-
(1995)
Am J Med Genet
, vol.57
, pp. 14-18
-
-
Stallard, R.1
Krueger, S.2
James, R.S.3
Schwartz, S.4
-
169
-
-
0344691598
-
Uniparental disomy (UPD) in a normal female due to transmission of a maternal t(13q;13q)
-
[Stallard R, Krueger S, Schwartz S. 1993. Uniparental disomy (UPD) in a normal female due to transmission of a maternal t(13q;13q). Am J Hum Genet 53(Suppl):256.]
-
(1993)
Am J Hum Genet
, vol.53
, Issue.SUPPL.
, pp. 256
-
-
Stallard, R.1
Krueger, S.2
Schwartz, S.3
-
170
-
-
0028069956
-
Maternal uniparental disommy of chromosome 13 in a phenotypically normal child
-
Slater H, Shaw JH, Dawson G, Bankier A, Forrest SM. 1994. Maternal uniparental disommy of chromosome 13 in a phenotypically normal child. J Med Genet 31:644-646.
-
(1994)
J Med Genet
, vol.31
, pp. 644-646
-
-
Slater, H.1
Shaw, J.H.2
Dawson, G.3
Bankier, A.4
Forrest, S.M.5
-
171
-
-
0033951956
-
Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis
-
Soler A, Margarit E, Queralt R, Carrio A, Costa D, Gomez D, Ballesta F. 2000. Paternal isodisomy 13 in a normal newborn infant after trisomy rescue evidenced by prenatal diagnosis. Am J Med Genet 90:291-293.
-
(2000)
Am J Med Genet
, vol.90
, pp. 291-293
-
-
Soler, A.1
Margarit, E.2
Queralt, R.3
Carrio, A.4
Costa, D.5
Gomez, D.6
Ballesta, F.7
-
172
-
-
0033613991
-
Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy
-
Berend SA, Feldman GL, McGaskill Ch, Czarnecki P, Van Dyke DL, Shaffer LG. 1999. Investigation of two cases of paternal disomy 13 suggests timing of isochromosome formation and mechanisms leading to uniparental disomy. Am J Med Genet 82:275-281.
-
(1999)
Am J Med Genet
, vol.82
, pp. 275-281
-
-
Berend, S.A.1
Feldman, G.L.2
McGaskill, Ch.3
Czarnecki, P.4
Van Dyke, D.L.5
Shaffer, L.G.6
-
173
-
-
0031761412
-
Prenatally detected paternal uniparental chromosome 13 isodisomy
-
Järvelä I, Savukoski M, Ämmälä P, von Koskull H. 1998. Prenatally detected paternal uniparental chromosome 13 isodisomy. Prenat Diagn 18:1169-1173.
-
(1998)
Prenat Diagn
, vol.18
, pp. 1169-1173
-
-
Järvelä, I.1
Savukoski, M.2
Ämmälä, P.3
Von Koskull, H.4
-
175
-
-
0029068235
-
UPD 13: No indication of maternal or paternal imprinting of genes on chromosome 13
-
Slater H, Shaw JH, Bankier A, Forrest SM. 1995. UPD 13: No indication of maternal or paternal imprinting of genes on chromosome 13. J Med Genet 33:493.
-
(1995)
J Med Genet
, vol.33
, pp. 493
-
-
Slater, H.1
Shaw, J.H.2
Bankier, A.3
Forrest, S.M.4
-
176
-
-
10844293482
-
Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations
-
Ruggeri A, Dulcetti F, Miozzo M, Grati FR, Grimi B, Bellato S, Natacci F, Maggi F, Simoni G. 2004. Prenatal search for UPD 14 and UPD 15 in 83 cases of familial and de novo heterologous Robertsonian translocations. Prenat Diagn 24:997-1000.
-
(2004)
Prenat Diagn
, vol.24
, pp. 997-1000
-
-
Ruggeri, A.1
Dulcetti, F.2
Miozzo, M.3
Grati, F.R.4
Grimi, B.5
Bellato, S.6
Natacci, F.7
Maggi, F.8
Simoni, G.9
-
177
-
-
12344264924
-
Maternal uniparental disomy chromosome 14: Case report and literature review
-
Falk M-J, Curtis CA, Bass NE, Zinn AB, Schwartz S. 2005. Maternal uniparental disomy chromosome 14: Case report and literature review. Pediatr Neurol 32(2):116-120.
-
(2005)
Pediatr Neurol
, vol.32
, Issue.2
, pp. 116-120
-
-
Falk, M.-J.1
Curtis, C.A.2
Bass, N.E.3
Zinn, A.B.4
Schwartz, S.5
-
178
-
-
4243050541
-
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: An Italian multicentric prenatal survey
-
Sensi A, Cavani S, Villa N, Pomponi MG, Fogli A, Gualandi F, Grasso M, Sala E, Pietrobono R, Baldinotti F, Savin E, Ferlini A, Cecconi M, Rossi S, Gallone S, Bellini C, Neri G, Martinoli E, Simi P, Dalpra L, Genuardi M, Dagna-Bricarelli F, Calzolari E. 2004. Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: An Italian multicentric prenatal survey. Prenat Diagn 24:647-652.
-
(2004)
Prenat Diagn
, vol.24
, pp. 647-652
-
-
Sensi, A.1
Cavani, S.2
Villa, N.3
Pomponi, M.G.4
Fogli, A.5
Gualandi, F.6
Grasso, M.7
Sala, E.8
Pietrobono, R.9
Baldinotti, F.10
Savin, E.11
Ferlini, A.12
Cecconi, M.13
Rossi, S.14
Gallone, S.15
Bellini, C.16
Neri, G.17
Martinoli, E.18
Simi, P.19
Dalpra, L.20
Genuardi, M.21
Dagna-Bricarelli, F.22
Calzolari, E.23
more..
-
179
-
-
3142687470
-
Maternal UPD(14) in the patient with a normal karyotype: Clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome
-
Cox H, Bullman H, Temple IK. 2004. Maternal UPD(14) in the patient with a normal karyotype: Clinical report and a systematic search for cases in samples sent for testing for Prader-Willi syndrome. Am J Med Genet 127:21-25.
-
(2004)
Am J Med Genet
, vol.127
, pp. 21-25
-
-
Cox, H.1
Bullman, H.2
Temple, I.K.3
-
180
-
-
32644488870
-
Alpha1-antitrypsin deficiency due to maternal uniparental disomy for chromosome 14
-
Blayau M, Odent S, Dubourg C, Dabadie A, David V. 2002. Alpha1-antitrypsin deficiency due to maternal uniparental disomy for chromosome 14. Europ J Hum Genet 10(Suppl 1):P0974.
-
(2002)
Europ J Hum Genet
, vol.10
, Issue.SUPPL. 1
-
-
Blayau, M.1
Odent, S.2
Dubourg, C.3
Dabadie, A.4
David, V.5
-
181
-
-
32644478201
-
Maternal heterodisomy for chromosome 14 and 13/14 Robertsonian translocation in a female with normal mental development, short stature and dysmorphic features
-
Giunti L, Lapi E, Guarducci S, Ricci U, Cecconi A, Andreucci E, Ottaviani M, Uzielli MLG. 2002. Maternal heterodisomy for chromosome 14 and 13/14 Robertsonian translocation in a female with normal mental development, short stature and dysmorphic features. Europ J Hum Genet 10(Suppl 1):P0214.
-
(2002)
Europ J Hum Genet
, vol.10
, Issue.SUPPL. 1
-
-
Giunti, L.1
Lapi, E.2
Guarducci, S.3
Ricci, U.4
Cecconi, A.5
Andreucci, E.6
Ottaviani, M.7
Mlg, U.8
-
182
-
-
0036707791
-
Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations
-
Berend SA, Bejjani BA, McCaskill C, Shaffer LG. 2002. Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations. Am J Med Genet 111:362-365.
-
(2002)
Am J Med Genet
, vol.111
, pp. 362-365
-
-
Berend, S.A.1
Bejjani, B.A.2
McCaskill, C.3
Shaffer, L.G.4
-
183
-
-
0036023277
-
Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: Risk estimate
-
Silverstein S, Lerer I, Sagi M, Frumkin A, Ben-Neriah Z, Abeliovich D. 2002. Uniparental disomy in fetuses diagnosed with balanced Robertsonian translocations: Risk estimate. Prenat Diagn 22:649-651.
-
(2002)
Prenat Diagn
, vol.22
, pp. 649-651
-
-
Silverstein, S.1
Lerer, I.2
Sagi, M.3
Frumkin, A.4
Ben-Neriah, Z.5
Abeliovich, D.6
-
184
-
-
4243322681
-
Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus
-
Kayashima T, Katahira M, Harada N, Miwa N, Ohta T, Yoshiura K, Matsumoto N, Nakane Y, Nakamura Y, Kajii T, Niikawa N, Kishino T. 2002. Maternal isodisomy for 14q21-q24 in a man with diabetes mellitus. Am J Med Genet 111:38-42.
-
(2002)
Am J Med Genet
, vol.111
, pp. 38-42
-
-
Kayashima, T.1
Katahira, M.2
Harada, N.3
Miwa, N.4
Ohta, T.5
Yoshiura, K.6
Matsumoto, N.7
Nakane, Y.8
Nakamura, Y.9
Kajii, T.10
Niikawa, N.11
Kishino, T.12
-
185
-
-
0036744424
-
Maternal uniparental disomy for chromosome 14 with diabetes mellitus
-
[Katahira M, Kayashima T, Kishino T, Niikawa N. 2002. Maternal uniparental disomy for chromosome 14 with diabetes mellitus. Intern Med 41(9):717-721.
-
(2002)
Intern Med
, vol.41
, Issue.9
, pp. 717-721
-
-
Katahira, M.1
Kayashima, T.2
Kishino, T.3
Niikawa, N.4
-
186
-
-
32644474557
-
Maturity onset diabetes mellitus in a patient with maternal uniparental disomy for chromosome 14
-
Kayashima T, Katahira M, Harada N, Miwa N, Kishino T, Nakamura Y, Kajii T, Niikawa N. 2001. Maturity onset diabetes mellitus in a patient with maternal uniparental disomy for chromosome 14. Am J Hum Genet 69(Suppl 4):736.]
-
(2001)
Am J Hum Genet
, vol.69
, Issue.SUPPL. 4
, pp. 736
-
-
Kayashima, T.1
Katahira, M.2
Harada, N.3
Miwa, N.4
Kishino, T.5
Nakamura, Y.6
Kajii, T.7
Niikawa, N.8
-
187
-
-
4344574396
-
Clinical/molecular studies of UPD14 and a diagnostic reversal
-
Papenhausen P, Wylie A, Shah H, Ranells J, Kousseff B, Gadi I. 2001. Clinical/molecular studies of UPD14 and a diagnostic reversal. Am J Hum Genet 69(Suppl 4):760.
-
(2001)
Am J Hum Genet
, vol.69
, Issue.SUPPL. 4
, pp. 760
-
-
Papenhausen, P.1
Wylie, A.2
Shah, H.3
Ranells, J.4
Kousseff, B.5
Gadi, I.6
-
188
-
-
4344632549
-
Maternal uniparental disomy 14 presenting as language delay
-
Worley KA, Rundus VR, Lee EB, Hannig VL, Hedges LK, Tsuchiya K, Phillips JA III. 2001. Maternal uniparental disomy 14 presenting as language delay. Am J Hum Genet 69(Suppl 4):738.
-
(2001)
Am J Hum Genet
, vol.69
, Issue.SUPPL. 4
, pp. 738
-
-
Worley, K.A.1
Rundus, V.R.2
Lee, E.B.3
Hannig, V.L.4
Hedges, L.K.5
Tsuchiya, K.6
Phillips III, J.A.7
-
189
-
-
0034053840
-
A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY
-
Manzoni M, Pramparo T, Stroppolo A, Chiaino F, Bosi E, Zuffardi O, Carrozzo R. 2000. A patient with maternal chromosome 14 UPD presenting with a mild phenotype and MODY. Clin Genet 51:5:406-408.
-
(2000)
Clin Genet
, vol.51
, Issue.5
, pp. 406-408
-
-
Manzoni, M.1
Pramparo, T.2
Stroppolo, A.3
Chiaino, F.4
Bosi, E.5
Zuffardi, O.6
Carrozzo, R.7
-
190
-
-
0001564674
-
UPD risk assessment: Three cytogenetic subgroups
-
Papenhausen PR, Tepperberg JH, Mowrey PN, Gadi IK, Shah HO, Sherman J, Pulijaal V, Nitowsky H, Sachs G, Lin JH. 1999. UPD risk assessment: Three cytogenetic subgroups. Am J Hum Genet 65(Suppl):1996.
-
(1999)
Am J Hum Genet
, vol.65
, Issue.SUPPL.
, pp. 1996
-
-
Papenhausen, P.R.1
Tepperberg, J.H.2
Mowrey, P.N.3
Gadi, I.K.4
Shah, H.O.5
Sherman, J.6
Pulijaal, V.7
Nitowsky, H.8
Sachs, G.9
Lin, J.H.10
-
191
-
-
0032850551
-
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
-
Hordijk R, Wierenga H, Scheffer H, Leegte B, Hofstra RMW, Stolte-Dijkstra I. 1999. Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype. J Med Genet 36:782-785.
-
(1999)
J Med Genet
, vol.36
, pp. 782-785
-
-
Hordijk, R.1
Wierenga, H.2
Scheffer, H.3
Leegte, B.4
Hofstra, R.M.W.5
Stolte-Dijkstra, I.6
-
192
-
-
0032999595
-
Maternal uniparental isodisomy for chromosome 14 detected prenatally
-
Ralph A, Scott F, Tiernan C, Caubere M, Kollegger S, Junio J, Roberts C, Ewen K, Slater HR. 1999. Maternal uniparental isodisomy for chromosome 14 detected prenatally. Prenat Diagn 19:681-684.
-
(1999)
Prenat Diagn
, vol.19
, pp. 681-684
-
-
Ralph, A.1
Scott, F.2
Tiernan, C.3
Caubere, M.4
Kollegger, S.5
Junio, J.6
Roberts, C.7
Ewen, K.8
Slater, H.R.9
-
193
-
-
0033531969
-
Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype
-
Berend MJW, Hordijk R, Oosterwijk JC, Halley DJJ, Sorgedrager N. 1999. Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype. Am J Med Genet 84:76-79.
-
(1999)
Am J Med Genet
, vol.84
, pp. 76-79
-
-
Berend, M.J.W.1
Hordijk, R.2
Oosterwijk, J.C.3
Halley, D.J.J.4
Sorgedrager, N.5
-
194
-
-
0002761766
-
Risk of uniparental disomy in Robertsonian translocation carriers: Identification of UPD14 in a small cohort
-
Harrison KJ, Allingham-Hawkins DJ, Hummel J, Meschino WS, Cox DW, Costa TM, Mak-Tam E, Teshina IF, Kamel-Reid S, Winsor EJT. 1998. Risk of uniparental disomy in Robertsonian translocation carriers: Identification of UPD14 in a small cohort. Am J Hum Genet 63(Suppl):51.
-
(1998)
Am J Hum Genet
, vol.63
, Issue.SUPPL.
, pp. 51
-
-
Harrison, K.J.1
Allingham-Hawkins, D.J.2
Hummel, J.3
Meschino, W.S.4
Cox, D.W.5
Costa, T.M.6
Mak-Tam, E.7
Teshina, I.F.8
Kamel-Reid, S.9
Winsor, E.J.T.10
-
195
-
-
0031616236
-
Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation
-
Miyoshi O, Hayashi S, Fujimoto M, Tomita H, Sohda M, Niikawa N. 1998. Maternal uniparental disomy for chromosome 14 in a boy with intrauterine growth retardation. J Hum Genet 43:138-142.
-
(1998)
J Hum Genet
, vol.43
, pp. 138-142
-
-
Miyoshi, O.1
Hayashi, S.2
Fujimoto, M.3
Tomita, H.4
Sohda, M.5
Niikawa, N.6
-
196
-
-
0033504298
-
Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty
-
Fokstuen S, Ginsburg C, Zachmann M, Schinzel A. 1999. Maternal uniparental disomy 14 as a cause of intrauterine growth retardation and early onset of puberty. J Pediatr 134:689-695.
-
(1999)
J Pediatr
, vol.134
, pp. 689-695
-
-
Fokstuen, S.1
Ginsburg, C.2
Zachmann, M.3
Schinzel, A.4
-
197
-
-
0034684724
-
The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age
-
[Ginsburg C, Fokstuen S, Schinzel A. 2000. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age. Am J Med Genet 95:454-460.
-
(2000)
Am J Med Genet
, vol.95
, pp. 454-460
-
-
Ginsburg, C.1
Fokstuen, S.2
Schinzel, A.3
-
198
-
-
0007933760
-
The contribution of uniparental disomy to congenital developmental defects in children born to "old" mothers
-
Ginsburg C, Fokstuen S, Schinzel A. 1998. The contribution of uniparental disomy to congenital developmental defects in children born to "old" mothers. Eur J Hum Genet 6(Suppl 1):P4.130.
-
(1998)
Eur J Hum Genet
, vol.6
, Issue.SUPPL. 1
-
-
Ginsburg, C.1
Fokstuen, S.2
Schinzel, A.3
-
199
-
-
32644473808
-
The contribution of uniparental disomy to congenital developmental defects in children born to "old" mothers
-
Ginsburg C, Fokstuen S, Schinzel A. 1998. The contribution of uniparental disomy to congenital developmental defects in children born to "old" mothers. Med Genetik 10(168):P6B-6.
-
(1998)
Med Genetik
, vol.10
, Issue.168
-
-
Ginsburg, C.1
Fokstuen, S.2
Schinzel, A.3
-
200
-
-
0344779764
-
The contribution of uniparental disomy to developmental defects in offspring of "old" mothers
-
Schinzel A, Ginsburg C, Fokstuen S. 1998. The contribution of uniparental disomy to developmental defects in offspring of "old" mothers. Genet Counsel 9:87.]
-
(1998)
Genet Counsel
, vol.9
, pp. 87
-
-
Schinzel, A.1
Ginsburg, C.2
Fokstuen, S.3
-
201
-
-
0000106787
-
Maternal uniparental disomy for chromosome 14
-
Desilets VA, Yong SL, Kalousek DK, Pantzar TJ, Kwong LC, Siemens C, Langlois S. 1997. Maternal uniparental disomy for chromosome 14. Am J Hum Genet 61(Suppl):691.
-
(1997)
Am J Hum Genet
, vol.61
, Issue.SUPPL.
, pp. 691
-
-
Desilets, V.A.1
Yong, S.L.2
Kalousek, D.K.3
Pantzar, T.J.4
Kwong, L.C.5
Siemens, C.6
Langlois, S.7
-
202
-
-
0034992754
-
Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction
-
Towner DR, Shaffer LG, Yang SP, Walgenbach DD. 2001. Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction. Prenat Diagn 21:395-398.
-
(2001)
Prenat Diagn
, vol.21
, pp. 395-398
-
-
Towner, D.R.1
Shaffer, L.G.2
Yang, S.P.3
Walgenbach, D.D.4
-
203
-
-
0000106786
-
Maternal uniparental disomy of chromosome 14 in an infant with mild dysmorphology and confined placental mosaicism
-
Walgenbach DD, Yang SP, McCaskill C, Shaffer LG, Towner DR. 1997. Maternal uniparental disomy of chromosome 14 in an infant with mild dysmorphology and confined placental mosaicism. Am J Hum Genet 61(Suppl):2222.
-
(1997)
Am J Hum Genet
, vol.61
, Issue.SUPPL.
, pp. 2222
-
-
Walgenbach, D.D.1
Yang, S.P.2
McCaskill, C.3
Shaffer, L.G.4
Towner, D.R.5
-
204
-
-
0031576246
-
Another case of maternal uniparental disomy chromosome 14 syndrome
-
Splitt MP, Goodship JA. 1997. Another case of maternal uniparental disomy chromosome 14 syndrome. Am J Med Genet 72:239-240.
-
(1997)
Am J Med Genet
, vol.72
, pp. 239-240
-
-
Splitt, M.P.1
Goodship, J.A.2
-
205
-
-
0000909603
-
Further evidence for an emerging maternal uniparental disomy chromosome 14 syndrome: Analysis of a phenotypically abnormal de novo Robertsonian translocation t(13;14) carrier
-
Barton DE, McQuaid S, Stallings R, Griffin E, Geraghty M. 1996. Further evidence for an emerging maternal uniparental disomy chromosome 14 syndrome: Analysis of a phenotypically abnormal de novo Robertsonian translocation t(13;14) carrier. Am J Hum Genet 59(Suppl):687.
-
(1996)
Am J Hum Genet
, vol.59
, Issue.SUPPL.
, pp. 687
-
-
Barton, D.E.1
McQuaid, S.2
Stallings, R.3
Griffin, E.4
Geraghty, M.5
-
206
-
-
0000909602
-
Maternal uniparental disomy for chromosome 14
-
Link L, McMilin K, Popovich B, Magenis RE. 1996. Maternal uniparental disomy for chromosome 14. Am J Hum Genet 59(Suppl):687.
-
(1996)
Am J Hum Genet
, vol.59
, Issue.SUPPL.
, pp. 687
-
-
Link, L.1
McMilin, K.2
Popovich, B.3
Magenis, R.E.4
-
207
-
-
0029767477
-
Maternal uniparental disomy for chromosome 14
-
Coviello DA, Panucci E, Mantero MM, Perfumo C, Guelfi M, Borronco C, Dagna-Bricarelli F. 1996. Maternal uniparental disomy for chromosome 14. Acta Geneticae et Gemellologicae 45(1-2):169-172.
-
(1996)
Acta Geneticae et Gemellologicae
, vol.45
, Issue.1-2
, pp. 169-172
-
-
Coviello, D.A.1
Panucci, E.2
Mantero, M.M.3
Perfumo, C.4
Guelfi, M.5
Borronco, C.6
Dagna-Bricarelli, F.7
-
208
-
-
0005568516
-
Maternal uniparental disomy for chromosome 14
-
[Coviello DA, Panucci E, Mantero MM, Perfumo C, Guelfi M, Borronco C, Dagna-Bricarelli F. 1995. Maternal uniparental disomy for chromosome 14. Am J Hum Genet 57(Suppl):617.]
-
(1995)
Am J Hum Genet
, vol.57
, Issue.SUPPL.
, pp. 617
-
-
Coviello, D.A.1
Panucci, E.2
Mantero, M.M.3
Perfumo, C.4
Guelfi, M.5
Borronco, C.6
Dagna-Bricarelli, F.7
-
209
-
-
0028794035
-
Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult
-
Papenhausen PR, Müller OT, Johnson VP, Sutcliffe M, Diamond ThM, Kousseff BG. 1995. Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult. Am J Med Genet 59:271-275.
-
(1995)
Am J Med Genet
, vol.59
, pp. 271-275
-
-
Papenhausen, P.R.1
Müller, O.T.2
Johnson, V.P.3
Sutcliffe, M.4
Diamond, Th.M.5
Kousseff, B.G.6
-
210
-
-
0344691600
-
Uniparental disomy for chromosome 14-evidence for an imprinting effect
-
[Diamond TM, Möller OM, Sutcliffe M, Papenhausen PR, Tedesco TA, Kousseff BG. 1993. Uniparental disomy for chromosome 14-evidence for an imprinting effect. Am J Hum Genet 51(Suppl):541.
-
(1993)
Am J Hum Genet
, vol.51
, Issue.SUPPL.
, pp. 541
-
-
Diamond, T.M.1
Möller, O.M.2
Sutcliffe, M.3
Papenhausen, P.R.4
Tedesco, T.A.5
Kousseff, B.G.6
-
211
-
-
0030566387
-
Letter to the editor: Phenotype of maternal UPD(14)
-
Robinson WP, Langlois S. 1996. Letter to the editor: Phenotype of maternal UPD(14). Am J Med Genet 66:89.]
-
(1996)
Am J Med Genet
, vol.66
, pp. 89
-
-
Robinson, W.P.1
Langlois, S.2
-
212
-
-
0028228209
-
Distinct phenotype in maternal uniparental disomy of chromosome 14
-
Healey S, Powell F, Battersby M, Chenevix-Trench G, McGill J. 1994. Distinct phenotype in maternal uniparental disomy of chromosome 14. Am J Med Genet 51:147-149.
-
(1994)
Am J Med Genet
, vol.51
, pp. 147-149
-
-
Healey, S.1
Powell, F.2
Battersby, M.3
Chenevix-Trench, G.4
McGill, J.5
-
213
-
-
0033922327
-
Maternal uniparental heterodisomy of chromosome 14: Chromosomal mechanism and clinical follow up
-
Sanlaville D, Aubry MC, Dumez Y, Nolen MC, Amiel J, Pinson MP, Lyonnet S, Munnich A, Vekemans M, Morichon-Delvallez N. 2000. Maternal uniparental heterodisomy of chromosome 14: Chromosomal mechanism and clinical follow up. J Med Genet 37:525-528.
-
(2000)
J Med Genet
, vol.37
, pp. 525-528
-
-
Sanlaville, D.1
Aubry, M.C.2
Dumez, Y.3
Nolen, M.C.4
Amiel, J.5
Pinson, M.P.6
Lyonnet, S.7
Munnich, A.8
Vekemans, M.9
Morichon-Delvallez, N.10
-
214
-
-
0013693469
-
Maternal uniparental disomy for chromosome 14 by secondary non-disjunction of a initial trisomy
-
[Morichon-Delvallez N, Segues B, Pinson MP, Bérubé D, Dommergues M, Aubry MC, Cessot F, Lyonnet S, Munnich A, Vekemans M. 1994. Maternal uniparental disomy for chromosome 14 by secondary non-disjunction of a initial trisomy. Am J Hum Genet 55(Suppl):2224.]
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
, pp. 2224
-
-
Morichon-Delvallez, N.1
Segues, B.2
Pinson, M.P.3
Bérubé, D.4
Dommergues, M.5
Aubry, M.C.6
Cessot, F.7
Lyonnet, S.8
Munnich, A.9
Vekemans, M.10
-
215
-
-
0028147431
-
A somatic origin of homologous robertsonian translocations and isochromosomes
-
Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LMS, Lüleci G, Schinzel A. 1994. A somatic origin of homologous robertsonian translocations and isochromosomes. Am J Hum Genet 54:290-302.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 290-302
-
-
Robinson, W.P.1
Bernasconi, F.2
Basaran, S.3
Yüksel-Apak, M.4
Neri, G.5
Serville, F.6
Balicek, P.7
Haluza, R.8
Farah, L.M.S.9
Lüleci, G.10
Schinzel, A.11
-
216
-
-
0028094977
-
Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX, + 14 karyotype
-
Sirchia SM, De Andreis Ch, Pariani S, Grimoldi MG, Molinari A, Buscaglia M, Simoni G. 1994. Chromosome 14 maternal uniparental disomy in the euploid cell line of a fetus with mosaic 46,XX/47,XX, + 14 karyotype. Hum Genet 94:355-358.
-
(1994)
Hum Genet
, vol.94
, pp. 355-358
-
-
Sirchia, S.M.1
De Andreis, Ch.2
Pariani, S.3
Grimoldi, M.G.4
Molinari, A.5
Buscaglia, M.6
Simoni, G.7
-
217
-
-
0030016132
-
Maternal uniparental isodisomy of chromosome 14 associated with a paternal t(13q14q) and precocious puberty
-
Tomkins DJ, Roux AF, Waye J, Freeman VC, Cox DW, Whelan DT. 1996. Maternal uniparental isodisomy of chromosome 14 associated with a paternal t(13q14q) and precocious puberty. Eur J Hum Genet 4(3):153-159.
-
(1996)
Eur J Hum Genet
, vol.4
, Issue.3
, pp. 153-159
-
-
Tomkins, D.J.1
Roux, A.F.2
Waye, J.3
Freeman, V.C.4
Cox, D.W.5
Whelan, D.T.6
-
218
-
-
0344691599
-
Maternal uniparental disomy of chromosome 14 in a boy with t(14q14q) associated with a paternal t(13q14q)
-
[Tomkins DJ, Waye JS, Whelan DT, Cox DW. 1994. Maternal uniparental disomy of chromosome 14 in a boy with t(14q14q) associated with a paternal t(13q14q). Am J Hum Genet 55(Suppl):685.]
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
, pp. 685
-
-
Tomkins, D.J.1
Waye, J.S.2
Whelan, D.T.3
Cox, D.W.4
-
219
-
-
0027426276
-
Maternal uniparental disomy for human chromosome 14, due to a loss of a chromosome 14 from somatic cells with t(13/14) trisomy 14
-
Antonarakis SE, Blouin J-L, Maher J, Avramopoulos D, Thomas G, Talbot CC. 1993. Maternal uniparental disomy for human chromosome 14, due to a loss of a chromosome 14 from somatic cells with t(13/14) trisomy 14. Am J Hum Genet 52:1145-1152.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1145-1152
-
-
Antonarakis, S.E.1
Blouin, J.-L.2
Maher, J.3
Avramopoulos, D.4
Thomas, G.5
Talbot, C.C.6
-
220
-
-
0026574487
-
Maternal uniparental isodisomy of chromosome 14: Association with autosomal recessive rod monochromacy
-
Pentao L, Lewis RA, Ledbetter DH, Patel PI, Lupski JR. 1992. Maternal uniparental isodisomy of chromosome 14: Association with autosomal recessive rod monochromacy. Am J Hum Genet 50:690-699.
-
(1992)
Am J Hum Genet
, vol.50
, pp. 690-699
-
-
Pentao, L.1
Lewis, R.A.2
Ledbetter, D.H.3
Patel, P.I.4
Lupski, J.R.5
-
221
-
-
0025866731
-
Maternal uniparental disomy for chromosome 14
-
Temple IK, Cockwwell A, Hassold T, Pettay D, Jacobs P. 1991. Maternal uniparental disomy for chromosome 14. J Med Genet 28:511-514.
-
(1991)
J Med Genet
, vol.28
, pp. 511-514
-
-
Temple, I.K.1
Cockwwell, A.2
Hassold, T.3
Pettay, D.4
Jacobs, P.5
-
222
-
-
0028223676
-
A systematic search for uniparental disomy in carriers of chromosome translocations
-
[James RS, Temple IK, Patch C, Thompson EM, Hassold T, Jacobs PA. 1994b. A systematic search for uniparental disomy in carriers of chromosome translocations. Eur J Hum Genet 2:83-95.]
-
(1994)
Eur J Hum Genet
, vol.2
, pp. 83-95
-
-
James, R.S.1
Temple, I.K.2
Patch, C.3
Thompson, E.M.4
Hassold, T.5
Jacobs, P.A.6
-
223
-
-
4344699068
-
Paternal uniparental disomy of chromosome 14: Confirmation of a clinically-recognizable phenotype
-
Published Online: 27 Jul 2004 DOI: 10.1002/ajmg.a.30200
-
Stevenson DA, Brothman AR, Chen Z, Bayrak-Toydemir P, Longo N. 2004. Paternal uniparental disomy of chromosome 14: Confirmation of a clinically-recognizable phenotype. Am J med Genet Published Online: 27 Jul 2004 DOI: 10.1002/ajmg.a.30200.
-
(2004)
Am J Med Genet
-
-
Stevenson, D.A.1
Brothman, A.R.2
Chen, Z.3
Bayrak-Toydemir, P.4
Longo, N.5
-
224
-
-
0037965055
-
Paternal uniparental disomy 14: Introducing the "coat-hanger" sign
-
Offiah AC, Cornette L, Hall CM. 2003. Paternal uniparental disomy 14: Introducing the "coat-hanger" sign. Pediatr Radiol 33:509-512.
-
(2003)
Pediatr Radiol
, vol.33
, pp. 509-512
-
-
Offiah, A.C.1
Cornette, L.2
Hall, C.M.3
-
225
-
-
0036192058
-
The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements
-
McGowan KD, Weiser JJ, Horwitz J, Berend SA, McCaskill Ch, Button VR, Shaffer LG. 2002. The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements. Prenat Diagn 22:141-143.
-
(2002)
Prenat Diagn
, vol.22
, pp. 141-143
-
-
McGowan, K.D.1
Weiser, J.J.2
Horwitz, J.3
Berend, S.A.4
McCaskill, Ch.5
Button, V.R.6
Shaffer, L.G.7
-
226
-
-
4344574396
-
Clinical/molecular studies of UPD14 and a diagnostic reversal
-
Papenhausen P, Wylie A, Shah H, Ranells J, Kousseff B, Gadi I. 2001. Clinical/molecular studies of UPD14 and a diagnostic reversal. Am J Hum Genet 69(Suppl 4):760.
-
(2001)
Am J Hum Genet
, vol.69
, Issue.SUPPL. 4
, pp. 760
-
-
Papenhausen, P.1
Wylie, A.2
Shah, H.3
Ranells, J.4
Kousseff, B.5
Gadi, I.6
-
227
-
-
2442509817
-
Clinical Report Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype
-
Chu C, Schwartz S, McPherson E. 2004. Clinical Report Paternal uniparental isodisomy for chromosome 14 in a patient with a normal 46,XY karyotype. Am J Med Genet 127A:167-171.
-
(2004)
Am J Med Genet
, vol.127 A
, pp. 167-171
-
-
Chu, C.1
Schwartz, S.2
McPherson, E.3
-
228
-
-
0009540353
-
Paternal UPD 14 unrelated to translocation
-
McPherson E, Pinter R, Parida S. 2001. Paternal UPD 14 unrelated to translocation. Am J Hum Genet 69(Suppl 4):687.
-
(2001)
Am J Hum Genet
, vol.69
, Issue.SUPPL. 4
, pp. 687
-
-
McPherson, E.1
Pinter, R.2
Parida, S.3
-
229
-
-
0141965395
-
A further delineation of the paternal uniparental disomy (UPD) 14: The fifth reported liveborn case
-
Yano S, Li L, Owen S, Wu S, Tran T. 2001. A further delineation of the paternal uniparental disomy (UPD) 14: The fifth reported liveborn case. Am J Hum Genet 69(Suppl 4):739.
-
(2001)
Am J Hum Genet
, vol.69
, Issue.SUPPL. 4
, pp. 739
-
-
Yano, S.1
Li, L.2
Owen, S.3
Wu, S.4
Tran, T.5
-
230
-
-
0036644308
-
Paternal UPD14 is responsible for a distinctive malformation complex
-
Kurosowa K, Sasaki H, Sato Y, Yamanaka M, Shimizu M, Ito Y, Okuyama T, Matsuo M, Imaizumi K, Kuroki Y, Nishimura G. 2002. Paternal UPD14 is responsible for a distinctive malformation complex. Am J Med Genet 110:268-272.
-
(2002)
Am J Med Genet
, vol.110
, pp. 268-272
-
-
Kurosowa, K.1
Sasaki, H.2
Sato, Y.3
Yamanaka, M.4
Shimizu, M.5
Ito, Y.6
Okuyama, T.7
Matsuo, M.8
Imaizumi, K.9
Kuroki, Y.10
Nishimura, G.11
-
231
-
-
32644471865
-
Paternal UPD14 is responsible for a distinctive malformation complex
-
[Kurosowa K, Sasaki H, Sato Y, Yamanaka M, Shimizu M, Ito Y, Okuyama T, Matsuo M, Imaizumi K, Kuroki Y, Nishimura G. 2001. Paternal UPD14 is responsible for a distinctive malformation complex. Am J Hum Genet 69(Suppl 4):892.]
-
(2001)
Am J Hum Genet
, vol.69
, Issue.SUPPL. 4
, pp. 892
-
-
Kurosowa, K.1
Sasaki, H.2
Sato, Y.3
Yamanaka, M.4
Shimizu, M.5
Ito, Y.6
Okuyama, T.7
Matsuo, M.8
Imaizumi, K.9
Kuroki, Y.10
Nishimura, G.11
-
232
-
-
0033926871
-
Identification of uniparental disomy following prenatal detection of robertsonian translocations and isochromosomes
-
Berend SA, Horwitz J, McCaskill Ch, Shaffer LG. 2000c. Identification of uniparental disomy following prenatal detection of robertsonian translocations and isochromosomes. Am J Hum Genet 66:1787-1793.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1787-1793
-
-
Berend, S.A.1
Horwitz, J.2
McCaskill, Ch.3
Shaffer, L.G.4
-
233
-
-
4243228849
-
Delineation of the paternal disomy 14 syndrome: Identification of a case by prenatal diagnosis
-
Klein J, Shaffer LG, McCaskill C, Scheerer L, Otto C, Main D, Thangaveul M, Goldberg J. 1999. Delineation of the paternal disomy 14 syndrome: Identification of a case by prenatal diagnosis. Am J Hum Genet 65(Suppl):980.
-
(1999)
Am J Hum Genet
, vol.65
, Issue.SUPPL.
, pp. 980
-
-
Klein, J.1
Shaffer, L.G.2
McCaskill, C.3
Scheerer, L.4
Otto, C.5
Main, D.6
Thangaveul, M.7
Goldberg, J.8
-
234
-
-
0030893234
-
Paternal uniparental disomy for chromosome 14: A case report and review
-
Cotter PhD, Kaffe S, Curdy LD, Jhaveri M, Winner JP, Hirschhorn K. 1997. Paternal uniparental disomy for chromosome 14: A case report and review. Am J Med Genet 70:74-79.
-
(1997)
Am J Med Genet
, vol.70
, pp. 74-79
-
-
Cotter, Ph.D.1
Kaffe, S.2
Curdy, L.D.3
Jhaveri, M.4
Winner, J.P.5
Hirschhorn, K.6
-
235
-
-
0029835877
-
Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11)
-
Walter ChA, Shaffer LG, Kaye CI, Huff RW, Ghidoni PD, McCaskill Ch, McFarland MB, Moore ChM. 1996. Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11). Am J Med Genet 65:259-265.
-
(1996)
Am J Med Genet
, vol.65
, pp. 259-265
-
-
Walter, Ch.A.1
Shaffer, L.G.2
Kaye, C.I.3
Huff, R.W.4
Ghidoni, P.D.5
McCaskill, Ch.6
McFarland, M.B.7
Moore, Ch.M.8
-
236
-
-
0036707791
-
Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations
-
Berend SA, Bejjani BA, McCaskill C, Shaffer LG. 2002. Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations. Am J Med Genet 111:362-365.
-
(2002)
Am J Med Genet
, vol.111
, pp. 362-365
-
-
Berend, S.A.1
Bejjani, B.A.2
McCaskill, C.3
Shaffer, L.G.4
-
237
-
-
0028794035
-
Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult
-
Papenhausen PR, Müller OT, Johnson VP, Sutcliffe M, Diamond ThM, Kousseff BG. 1995. Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult. Am J Med Genet 59:271-275.
-
(1995)
Am J Med Genet
, vol.59
, pp. 271-275
-
-
Papenhausen, P.R.1
Müller, O.T.2
Johnson, V.P.3
Sutcliffe, M.4
Diamond, Th.M.5
Kousseff, B.G.6
-
238
-
-
0344691600
-
Uniparental disomy for chromosome 14-evidence for an imprinting effect
-
Diamond TM, Möller OM, Sutcliffe M, Papenhausen PR, Tedesco TA, Kousseff BG. 1993. Uniparental disomy for chromosome 14-evidence for an imprinting effect. Am J Hum Genet 51(Suppl):541.
-
(1993)
Am J Hum Genet
, vol.51
, Issue.SUPPL.
, pp. 541
-
-
Diamond, T.M.1
Möller, O.M.2
Sutcliffe, M.3
Papenhausen, P.R.4
Tedesco, T.A.5
Kousseff, B.G.6
-
239
-
-
0025819444
-
Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier
-
Wang J-C, Passage MB, Yen PH, Shapiro LJ, Mohandas TK. 1991. Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier. Am J Hum Genet 48:1069-1074.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1069-1074
-
-
Wang, J.-C.1
Passage, M.B.2
Yen, P.H.3
Shapiro, L.J.4
Mohandas, T.K.5
-
240
-
-
3142585297
-
Maternal uniparental disomy 16 and genetic counseling: New case and survey of published cases
-
Eggermann T, Curtis M, Zerres K, Hughes HE. 2004. Maternal uniparental disomy 16 and genetic counseling: New case and survey of published cases. Genet Couns 15:183-190.
-
(2004)
Genet Couns
, vol.15
, pp. 183-190
-
-
Eggermann, T.1
Curtis, M.2
Zerres, K.3
Hughes, H.E.4
-
241
-
-
2442698074
-
Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion
-
Kondo Y, Tsukishiro S, Tanemura M, Suguiura-Ogasawara M, Suzumori K, Sonta S. 2004. Maternal uniparental disomy of chromosome 16 in a case of spontaneous abortion. J Hum Genet 49:177-181.
-
(2004)
J Hum Genet
, vol.49
, pp. 177-181
-
-
Kondo, Y.1
Tsukishiro, S.2
Tanemura, M.3
Suguiura-Ogasawara, M.4
Suzumori, K.5
Sonta, S.6
-
242
-
-
0034597334
-
Maternal uniparental disomy of chromosome 16 and body stalk anomaly
-
Chan Y, Silverman N, Jackson L, Wapner R, Wallerstein R. 2000. Maternal uniparental disomy of chromosome 16 and body stalk anomaly. Am J Med Genet 94:284-286.
-
(2000)
Am J Med Genet
, vol.94
, pp. 284-286
-
-
Chan, Y.1
Silverman, N.2
Jackson, L.3
Wapner, R.4
Wallerstein, R.5
-
243
-
-
0033022634
-
An analysis of common isodisomic regions in five mUPD 16 probands
-
Abu-Amero SN, Ali Z, Abu-Amero KK, Stanier P, Moore GE. 1999. An analysis of common isodisomic regions in five mUPD 16 probands. J Med Genet 36:204-207.
-
(1999)
J Med Genet
, vol.36
, pp. 204-207
-
-
Abu-Amero, S.N.1
Ali, Z.2
Abu-Amero, K.K.3
Stanier, P.4
Moore, G.E.5
-
244
-
-
0031752939
-
Pseudo-xclusion from paternity due to maternal uniparental disomy 16
-
Bein G, Driller B, Schürmann M, Schneider PM, Kirchner H. 1998. Pseudo-xclusion from paternity due to maternal uniparental disomy 16. In J Legal Med 111:328-330.
-
(1998)
In J Legal Med
, vol.111
, pp. 328-330
-
-
Bein, G.1
Driller, B.2
Schürmann, M.3
Schneider, P.M.4
Kirchner, H.5
-
245
-
-
0032545318
-
Mosaic trisomy 16 ascertained through amniocentesis: Evaluation of 11 new cases
-
Hsu W-T, Shchepin DA, Mao R, Berry-Kravis E, Garber AP, Fischel-Ghodsian N, Falk RE, Carlson DE, Roeder ER, Leeth EA, Hajianpour MJ, Wang J-ChC, Rosenblum-Vos LS, Bhatt SD, Karson EM, Hux ChH, Trunca C, Bialer MG, Linn SK, Schreck RR. 1998. Mosaic trisomy 16 ascertained through amniocentesis: Evaluation of 11 new cases. Am J Med Genet 80:473-480.
-
(1998)
Am J Med Genet
, vol.80
, pp. 473-480
-
-
Hsu, W.-T.1
Shchepin, D.A.2
Mao, R.3
Berry-Kravis, E.4
Garber, A.P.5
Fischel-Ghodsian, N.6
Falk, R.E.7
Carlson, D.E.8
Roeder, E.R.9
Leeth, E.A.10
Hajianpour, M.J.11
Wang, J.-Ch.C.12
Rosenblum-Vos, L.S.13
Bhatt, S.D.14
Karson, E.M.15
Hux, Ch.H.16
Trunca, C.17
Bialer, M.G.18
Linn, S.K.19
Schreck, R.R.20
more..
-
246
-
-
0031740809
-
Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal unipartental disomy for chromosome 16
-
Wang J-ChC, Mamunes P, Kou S-Y, Schmidt J, Mao R, Hsu WT. 1998. Centromeric DNA break in a 10;16 reciprocal translocation associated with trisomy 16 confined placental mosaicism and maternal unipartental disomy for chromosome 16. Am J Med Genet 80:418-422.
-
(1998)
Am J Med Genet
, vol.80
, pp. 418-422
-
-
Wang, J.-Ch.C.1
Mamunes, P.2
Kou, S.-Y.3
Schmidt, J.4
Mao, R.5
Hsu, W.T.6
-
247
-
-
0344259864
-
Centromeric DNA break in a 10;16 whole arm translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16
-
[Wang J-C, Kou S-Y, Mao R, Schmidt J, Habibian R, Hsu W-T. 1997. Centromeric DNA break in a 10;16 whole arm translocation associated with trisomy 16 confined placental mosaicism and maternal uniparental disomy for chromosome 16. Am J Hum Genet 61(Suppl):811.]
-
(1997)
Am J Hum Genet
, vol.61
, Issue.SUPPL.
, pp. 811
-
-
Wang, J.-C.1
Kou, S.-Y.2
Mao, R.3
Schmidt, J.4
Habibian, R.5
Hsu, W.-T.6
-
248
-
-
32644462161
-
Uniparental disomy studies in two cases of trisomy 16 mosaicism detected at amniocentesis
-
P04.33
-
Diack JSW, Clark C, Kidd AMJ, Massie D, Gray ES, Dean JCS. 1998. Uniparental disomy studies in two cases of trisomy 16 mosaicism detected at amniocentesis. J Med Genet 35(Suppl 1):S57:P04.33.
-
(1998)
J Med Genet
, vol.35
, Issue.SUPPL. 1
-
-
Diack, J.S.W.1
Clark, C.2
Kidd, A.M.J.3
Massie, D.4
Gray, E.S.5
Dean, J.C.S.6
-
249
-
-
0031877890
-
Uniparental disomy with and without confined placental mosaicism: A model for trisomic zygote rescue
-
Los FJ, van Opstal D, van den berg C, Braat APG, Verhoef S, Wesby-van Swaay E, van den Ouweland AMW, Halley DJJ. 1998. Uniparental disomy with and without confined placental mosaicism: A model for trisomic zygote rescue. Prenat Diagn 18:659-668.
-
(1998)
Prenat Diagn
, vol.18
, pp. 659-668
-
-
Los, F.J.1
Van Opstal, D.2
Van Den Berg, C.3
Braat, A.P.G.4
Verhoef, S.5
Wesby-Van Swaay, E.6
Van Den Ouweland, A.M.W.7
Halley, D.J.J.8
-
250
-
-
0344259875
-
Maternal uniparental disomy 16 without phenotypic repercussion
-
Sanz R, Rodriguez de Alba M, Ayuso C, Fernandez-Moya JM, Barroso A, Robledo M, Benitez J, Diaz-Recasens J, Ramos C. 1998. Maternal uniparental disomy 16 without phenotypic repercussion. Eur J Hum Genet 6(Suppl 1):P2.053.
-
(1998)
Eur J Hum Genet
, vol.6
, Issue.SUPPL. 1
-
-
Sanz, R.1
Rodriguez De Alba, M.2
Ayuso, C.3
Fernandez-Moya, J.M.4
Barroso, A.5
Robledo, M.6
Benitez, J.7
Diaz-Recasens, J.8
Ramos, C.9
-
251
-
-
0031973232
-
Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy
-
Van Opstal D, van den Berg C, Deelen WH, Brandenburg H, Cohen-Overbeek TE, Halley DJJ, van den Ouweland AMW, In't Veld PA, Los FJ. 1998. Prospective prenatal investigations on potential uniparental disomy in cases of confined placental trisomy. Prenat Diagn 18:35-44.
-
(1998)
Prenat Diagn
, vol.18
, pp. 35-44
-
-
Van Opstal, D.1
Van Den Berg, C.2
Deelen, W.H.3
Brandenburg, H.4
Cohen-Overbeek, T.E.5
Halley, D.J.J.6
Van Den Ouweland, A.M.W.7
In't Veld, P.A.8
Los, F.J.9
-
252
-
-
0027941823
-
Human maternal uniparental disomy for chromosome 16 and fetal development
-
Vaughan J, Ali Z, Bower S, Bennett P, Chard P, Moore G. 1994. Human maternal uniparental disomy for chromosome 16 and fetal development. Prenat Diagn 14:751-756.
-
(1994)
Prenat Diagn
, vol.14
, pp. 751-756
-
-
Vaughan, J.1
Ali, Z.2
Bower, S.3
Bennett, P.4
Chard, P.5
Moore, G.6
-
253
-
-
0031030493
-
The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of 35 severely affected babies
-
[Moore GE, Ali Z, Khan RU, Blunt S, Bennett PhR, Vaughan JI. 1997. The incidence of uniparental disomy associated with intrauterine growth retardation in a cohort of 35 severely affected babies. Am J Obstet Gynecol 176:294-299.]
-
(1997)
Am J Obstet Gynecol
, vol.176
, pp. 294-299
-
-
Moore, G.E.1
Ali, Z.2
Khan, R.U.3
Blunt, S.4
Bennett, Ph.R.5
Vaughan, J.I.6
-
254
-
-
0030733443
-
Trisomy first, translocation second, uniparental disomy and partial trisomy third: A new mechanism for complex chromosomal aneuploidy
-
Schinzel A, Kotzot D, Brecevic L, Robinson WP, Dutly F, Dauwerse H, Binkert F, Ausserer B. 1997. Trisomy first, translocation second, uniparental disomy and partial trisomy third: A new mechanism for complex chromosomal aneuploidy. Eur J Hum Genet 5:308-314.
-
(1997)
Eur J Hum Genet
, vol.5
, pp. 308-314
-
-
Schinzel, A.1
Kotzot, D.2
Brecevic, L.3
Robinson, W.P.4
Dutly, F.5
Dauwerse, H.6
Binkert, F.7
Ausserer, B.8
-
255
-
-
0034684724
-
The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age
-
[Ginsburg C, Fokstuen S, Schinzel A. 2000. The contribution of uniparental disomy to congenital development defects in children born to mothers at advanced childbearing age. Am J Med Genet 95:454-460.
-
(2000)
Am J Med Genet
, vol.95
, pp. 454-460
-
-
Ginsburg, C.1
Fokstuen, S.2
Schinzel, A.3
-
256
-
-
0007933760
-
The contribution of uniparental disomy to congenital developmental defects in children born to "old" mothers
-
Ginsburg C, Fokstuen S, Schinzel A. 1998. The contribution of uniparental disomy to congenital developmental defects in children born to "old" mothers. Eur J Hum Genet 6(Suppl 1):P4.130.
-
(1998)
Eur J Hum Genet
, vol.6
, Issue.SUPPL. 1
-
-
Ginsburg, C.1
Fokstuen, S.2
Schinzel, A.3
-
257
-
-
32644473808
-
The contribution of uniparental disomy to congenital developmental defects in children born to "old" mothers
-
168
-
Ginsburg C, Fokstuen S, Schinzel A. 1998. The contribution of uniparental disomy to congenital developmental defects in children born to "old" mothers. Med Genetik 10:168:P6B-6.
-
(1998)
Med Genetik
, vol.10
-
-
Ginsburg, C.1
Fokstuen, S.2
Schinzel, A.3
-
258
-
-
0344779764
-
The contribution of uniparental disomy to developmental defects in offspring of "old" mothers
-
Schinzel A, Ginsburg C, Fokstuen S. 1998. The contribution of uniparental disomy to developmental defects in offspring of "old" mothers. Genet Counsel 9:87.
-
(1998)
Genet Counsel
, vol.9
, pp. 87
-
-
Schinzel, A.1
Ginsburg, C.2
Fokstuen, S.3
-
259
-
-
0344691594
-
Mosaicism between maternal heterodisomy 16 and maternal heterodisomy 16p13 → qter combined with trisomy 16pter → p13 associated with mental retardation and multiple anomalies
-
Brecevic L, Kotzot D, Binkert F, Robinson W, Dutly F, Ausserer B, Schinzel A. 1997. Mosaicism between maternal heterodisomy 16 and maternal heterodisomy 16p13 → qter combined with trisomy 16pter → p13 associated with mental retardation and multiple anomalies. Cytogenet Cell Genet 77:103.
-
(1997)
Cytogenet Cell Genet
, vol.77
, pp. 103
-
-
Brecevic, L.1
Kotzot, D.2
Binkert, F.3
Robinson, W.4
Dutly, F.5
Ausserer, B.6
Schinzel, A.7
-
260
-
-
0345122292
-
An unusual consequence of maternal uniparental disomy 16
-
Schinzel A, Kotzot D, Brecevic L. 1995. An unusual consequence of maternal uniparental disomy 16. Genet Counsel 7:87.]
-
(1995)
Genet Counsel
, vol.7
, pp. 87
-
-
Schinzel, A.1
Kotzot, D.2
Brecevic, L.3
-
261
-
-
16944367292
-
Meiotic origin of trisomy in confined placental mosaicism correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction
-
Robinson WP, Barrett IJ, Bernard L, Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK. 1997. Meiotic origin of trisomy in confined placental mosaicism correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 60:917-927.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 917-927
-
-
Robinson, W.P.1
Barrett, I.J.2
Bernard, L.3
Telenius, A.4
Bernasconi, F.5
Wilson, R.D.6
Best, R.G.7
Howard-Peebles, P.N.8
Langlois, S.9
Kalousek, D.K.10
-
262
-
-
0031004441
-
Maternal uniparental heterodisomy for chromosome 16: Case report
-
Woo V, Bridge PJ, Bamforth JS. 1997. Maternal uniparental heterodisomy for chromosome 16: Case report. Am J Med Genet 70:387-390.
-
(1997)
Am J Med Genet
, vol.70
, pp. 387-390
-
-
Woo, V.1
Bridge, P.J.2
Bamforth, J.S.3
-
263
-
-
0030472329
-
Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16
-
Schneider AS, Bischoff FZ, McCaskill Ch, Coady ML, Stopfer JE, Shaffer LG. 1996. Comprehensive 4-year follow-up on a case of maternal heterodisomy for chromosome 16. Am J Med Genet 66:204-208.
-
(1996)
Am J Med Genet
, vol.66
, pp. 204-208
-
-
Schneider, A.S.1
Bischoff, F.Z.2
McCaskill, Ch.3
Coady, M.L.4
Stopfer, J.E.5
Shaffer, L.G.6
-
264
-
-
0029820521
-
Case report: Uniparental disomy 16 in association with congenital heart disease
-
O'Riordan S, Greenough A, Moore GE, Bennett P, Nicolaides KH. 1996. Case report: Uniparental disomy 16 in association with congenital heart disease. Prenat Diagn 16:963-965.
-
(1996)
Prenat Diagn
, vol.16
, pp. 963-965
-
-
O'Riordan, S.1
Greenough, A.2
Moore, G.E.3
Bennett, P.4
Nicolaides, K.H.5
-
265
-
-
0029079282
-
Uniparental isodisomy for chromosome 16 in a growth-retarded infant with
-
Whiteford ML, Coutts J, Al-Roomi L, Mather A, Lowther G, Cooke A, Vaughan JI, Moore GE, Tolme JL. 1995. Uniparental isodisomy for chromosome 16 in a growth-retarded infant with. Prenat Diagn 15:579-584.
-
(1995)
Prenat Diagn
, vol.15
, pp. 579-584
-
-
Whiteford, M.L.1
Coutts, J.2
Al-Roomi, L.3
Mather, A.4
Lowther, G.5
Cooke, A.6
Vaughan, J.I.7
Moore, G.E.8
Tolme, J.L.9
-
266
-
-
0344691591
-
Uniparental disomy of chromosome 16 in offsprings of Familial Mediterranean Fever (FMF) patients treated with colchicin
-
Korenstein A, Ravia Y, Avivi L. 1994. Uniparental disomy of chromosome 16 in offsprings of Familial Mediterranean Fever (FMF) patients treated with colchicin. Am J Hum Genet 55(Suppl):616.
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
, pp. 616
-
-
Korenstein, A.1
Ravia, Y.2
Avivi, L.3
-
267
-
-
0028293717
-
Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16
-
Garber A, Carlson D, Schreck R, Fischel-Ghodsian N, Hsu W-T, Oetztas S, Pepkowitz S, Graham JM. 1994. Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16. Prenat Diagn 14:257-268.
-
(1994)
Prenat Diagn
, vol.14
, pp. 257-268
-
-
Garber, A.1
Carlson, D.2
Schreck, R.3
Fischel-Ghodsian, N.4
Hsu, W.-T.5
Oetztas, S.6
Pepkowitz, S.7
Graham, J.M.8
-
268
-
-
0345122289
-
Mosaic trisomy 16 in amniocentesis
-
Hsu W-T, Zhang J-G, Kravis E, Garber A, Fischel-Ghodsian N. 1996. Mosaic trisomy 16 in amniocentesis. Am J Hum Genet 59(Suppl):1878.
-
(1996)
Am J Hum Genet
, vol.59
, Issue.SUPPL.
, pp. 1878
-
-
Hsu, W.-T.1
Zhang, J.-G.2
Kravis, E.3
Garber, A.4
Fischel-Ghodsian, N.5
-
269
-
-
0027474269
-
Uniparental disomy for chromosome 16 in humans
-
Kalousek DK, Langlois S, Barrett I, Yam I, Wilson DR, Howard Peebles PN, Johnson MP, Giorgiutti E. 1993. Uniparental disomy for chromosome 16 in humans. Am J Hum Genet 52:8-16.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 8-16
-
-
Kalousek, D.K.1
Langlois, S.2
Barrett, I.3
Yam, I.4
Wilson, D.R.5
Howard Peebles, P.N.6
Johnson, M.P.7
Giorgiutti, E.8
-
270
-
-
0345122287
-
Fetal uniparental disomy for chromosome 16 in pregnancies with confined placental mosaicism
-
[Langlois S, Barrett I, Yam I, Wilson RD, Howard-Peebles PN, Johnson MP, Giorgiutti E, Kalousek DK. 1992. Fetal uniparental disomy for chromosome 16 in pregnancies with confined placental mosaicism. Am J Hum Genet 51(Suppl):62.]
-
(1992)
Am J Hum Genet
, vol.51
, Issue.SUPPL.
, pp. 62
-
-
Langlois, S.1
Barrett, I.2
Yam, I.3
Wilson, R.D.4
Howard-Peebles, P.N.5
Johnson, M.P.6
Giorgiutti, E.7
Kalousek, D.K.8
-
271
-
-
0027420466
-
Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16
-
Lindor NM, Jalal SM, Thibodeau SN, Bonde D, Sauser KL, Karnes PS. 1993. Mosaic trisomy 16 in a thriving infant; maternal heterodisomy for chromosome 16. Clin Genet 44:185-189.
-
(1993)
Clin Genet
, vol.44
, pp. 185-189
-
-
Lindor, N.M.1
Jalal, S.M.2
Thibodeau, S.N.3
Bonde, D.4
Sauser, K.L.5
Karnes, P.S.6
-
272
-
-
0011340139
-
Maternal isodisomy 16 in a normal 46,XX following trisomic conception
-
Sutcliffe MJ, Mueller OT, Gallardo LA, Papenhausen PR, Tedesco TA. 1993. Maternal isodisomy 16 in a normal 46,XX following trisomic conception. Am J Hum Genet 53(Suppl):1464.
-
(1993)
Am J Hum Genet
, vol.53
, Issue.SUPPL.
, pp. 1464
-
-
Sutcliffe, M.J.1
Mueller, O.T.2
Gallardo, L.A.3
Papenhausen, P.R.4
Tedesco, T.A.5
-
273
-
-
0345122293
-
Physical and psychomotor development of three children with uniparental disomy 16
-
Exeler R, Dworniczak B, Tercanli S, Holzgreve W, Horst J, Trowitzsch E, Miny P. 1996. Physical and psychomotor development of three children with uniparental disomy 16. Am J Hum Genet 59(Suppl):497.
-
(1996)
Am J Hum Genet
, vol.59
, Issue.SUPPL.
, pp. 497
-
-
Exeler, R.1
Dworniczak, B.2
Tercanli, S.3
Holzgreve, W.4
Horst, J.5
Trowitzsch, E.6
Miny, P.7
-
274
-
-
0345553677
-
Clinical follow up of uniparental disomy 16: First data
-
[Dworniczak B, Koppers B, Bogdanova N, Exeler R, Tercanli S, Holzgreve W, Horst J, Miny P. 1994. Clinical follow up of uniparental disomy 16: First data. Am J Hum Genet 55(Suppl):28.
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
, pp. 28
-
-
Dworniczak, B.1
Koppers, B.2
Bogdanova, N.3
Exeler, R.4
Tercanli, S.5
Holzgreve, W.6
Horst, J.7
Miny, P.8
-
275
-
-
0026450716
-
Uniparental disomy with normal phenotype
-
Dworniczak B, Koppers B, Kuriemann G, Holzgreve W, Horst J, Miny P. 1992. Uniparental disomy with normal phenotype. Lancet 344:1285-1286.
-
(1992)
Lancet
, vol.344
, pp. 1285-1286
-
-
Dworniczak, B.1
Koppers, B.2
Kuriemann, G.3
Holzgreve, W.4
Horst, J.5
Miny, P.6
-
276
-
-
0344691593
-
Maternal origin of both chromosomes 16 in a phenotypically normal newborn
-
Dworniczak B, Koppers B, Kurlemann G, Holzgreve W, Horst J, Miny P. 1992. Maternal origin of both chromosomes 16 in a phenotypically normal newborn. Am J Hum Genet 51(Suppl):32.)
-
(1992)
Am J Hum Genet
, vol.51
, Issue.SUPPL.
, pp. 32
-
-
Dworniczak, B.1
Koppers, B.2
Kurlemann, G.3
Holzgreve, W.4
Horst, J.5
Miny, P.6
-
277
-
-
0034118887
-
First case with paternal uniparental disomy of chromosome 16
-
Kohlhase J, Janssen B, Weidenauer K, Harms K, Bartels I. 2000. First case with paternal uniparental disomy of chromosome 16. Am J Med Genet 91:190-191.
-
(2000)
Am J Med Genet
, vol.91
, pp. 190-191
-
-
Kohlhase, J.1
Janssen, B.2
Weidenauer, K.3
Harms, K.4
Bartels, I.5
-
278
-
-
32644479858
-
First case of confirmed paternal uniparental disomy (UPD) 16
-
[Bartels I, Janssen B, Weidenauer K, Kohlhase J. 1999. First case of confirmed paternal uniparental disomy (UPD) 16. Medgen 11(179):P6-P1.]
-
(1999)
Medgen
, vol.11
, Issue.179
-
-
Bartels, I.1
Janssen, B.2
Weidenauer, K.3
Kohlhase, J.4
-
279
-
-
0342839624
-
Paternal uniparental isodisomy in a hydrops fetalis alpha-thalassemia fetus
-
Ngo KY, Lee J, Dixon B, Liu D, Jones OW. 1993. Paternal uniparental isodisomy in a hydrops fetalis alpha-thalassemia fetus. Am J Hum Genet 53(Suppl):1207.
-
(1993)
Am J Hum Genet
, vol.53
, Issue.SUPPL.
, pp. 1207
-
-
Ngo, K.Y.1
Lee, J.2
Dixon, B.3
Liu, D.4
Jones, O.W.5
-
280
-
-
0032977587
-
Mosaic trisomy 17 in amniocytes: Phenotypic outcome, tissue distribution, and uniparental disomy studies
-
Genuardi M, Tozzi C, Pomponi MG, Stagni ML, Della Monica M, Scarano G, Calvieri F, Loredana T, Neri G. 1999. Mosaic trisomy 17 in amniocytes: Phenotypic outcome, tissue distribution, and uniparental disomy studies. Europ J Hum Genet 7:421-426.
-
(1999)
Europ J Hum Genet
, vol.7
, pp. 421-426
-
-
Genuardi, M.1
Tozzi, C.2
Pomponi, M.G.3
Stagni, M.L.4
Della Monica, M.5
Scarano, G.6
Calvieri, F.7
Loredana, T.8
Neri, G.9
-
281
-
-
18744405678
-
Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: Clinical, cytogenetic and molecular analysis
-
Velissariou V, Antoniadi T, Gyftodimou J, Bakou K, Grigoriadou M, Christopoulou S, Hatzipouliou A, Donoghue J, Karatzis P, Katsarou E, Petersen MB. 2002. Maternal uniparental isodisomy 20 in a foetus with trisomy 20 mosaicism: Clinical, cytogenetic and molecular analysis. Eur J Hum Genet 10:694-698.
-
(2002)
Eur J Hum Genet
, vol.10
, pp. 694-698
-
-
Velissariou, V.1
Antoniadi, T.2
Gyftodimou, J.3
Bakou, K.4
Grigoriadou, M.5
Christopoulou, S.6
Hatzipouliou, A.7
Donoghue, J.8
Karatzis, P.9
Katsarou, E.10
Petersen, M.B.11
-
282
-
-
32644466816
-
Maternal uniparental isodisomy 20 in a fetus with trisomy 20 mosaicism: Clinical, cytogenetic and molecular analysis
-
Velissariou V, Antoniadi T, Gyftodimou J, Bakou K, Grigoriadou M, Christopoulou S, Hatzipouliou A, Donoghue J, Karatzis P, Katsarou E, Petersen MB. 2002. Maternal uniparental isodisomy 20 in a fetus with trisomy 20 mosaicism: Clinical, cytogenetic and molecular analysis. Am J Hum Genet 71(Suppl 4):1981.
-
(2002)
Am J Hum Genet
, vol.71
, Issue.SUPPL. 4
, pp. 1981
-
-
Velissariou, V.1
Antoniadi, T.2
Gyftodimou, J.3
Bakou, K.4
Grigoriadou, M.5
Christopoulou, S.6
Hatzipouliou, A.7
Donoghue, J.8
Karatzis, P.9
Katsarou, E.10
Petersen, M.B.11
-
284
-
-
32644489638
-
Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20
-
Hoppe C, on Eggeling F, Claussen U, MacGregor SN, Salafsky IS. 2001. Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20. Europ J Hum Genet 9(Suppl):P0843.
-
(2001)
Europ J Hum Genet
, vol.9
, Issue.SUPPL.
-
-
Hoppe, C.1
On Eggeling, F.2
Claussen, U.3
MacGregor, S.N.4
Salafsky, I.S.5
-
285
-
-
0035105118
-
Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal upd (20) in a cohort of growth-retarded patients
-
Eggermann T, Mergenthaler S, Eggermann K, Albers A, Fusch C, Ranke MB, Wollmann HA. 2001. Identification of interstitial maternal uniparental disomy (UPD) (14) and complete maternal upd (20) in a cohort of growth-retarded patients. J Med Genet 38:86-89.
-
(2001)
J Med Genet
, vol.38
, pp. 86-89
-
-
Eggermann, T.1
Mergenthaler, S.2
Eggermann, K.3
Albers, A.4
Fusch, C.5
Ranke, M.B.6
Wollmann, H.A.7
-
286
-
-
0000570327
-
Clinical indications for uniparental disomy (UPD) testing in growth retarded patients: Presentation of own results by searching for UPDs 2, 6, 7, 14, and 20
-
[Mergenthaler S, Wollmann HA, Kloos P, Albrecht B, Spranger S, Eggermann K, Zerres K, Eggermann T. 2000. Clinical indications for uniparental disomy (UPD) testing in growth retarded patients: Presentation of own results by searching for UPDs 2, 6, 7, 14, and 20. Am J Hum Genet 67(Suppl 2):599.
-
(2000)
Am J Hum Genet
, vol.67
, Issue.SUPPL. 2
, pp. 599
-
-
Mergenthaler, S.1
Wollmann, H.A.2
Kloos, P.3
Albrecht, B.4
Spranger, S.5
Eggermann, K.6
Zerres, K.7
Eggermann, T.8
-
287
-
-
32644465739
-
Identification of maternal uniparental disomy (matUPD) 20 by UPD-screening in growth retarded patients
-
Mergenthaler S, Wollmann HA, Eggermann K, Thissen S, Ranke MB, Eggermann T. 2000. Identification of maternal uniparental disomy (matUPD) 20 by UPD-screening in growth retarded patients. Europ J Hum Genet 8(Suppl 1):131:P509.
-
(2000)
Europ J Hum Genet
, vol.8
, Issue.131 SUPPL. 1
-
-
Mergenthaler, S.1
Wollmann, H.A.2
Eggermann, K.3
Thissen, S.4
Ranke, M.B.5
Eggermann, T.6
-
288
-
-
32644483293
-
Screening for uniparental disomy in growth-retarded patients: A case of UPD14
-
P-II-5.68. (not in the abstract)
-
Eggermann K, Mergenthaler S, Thissen S, Zerres K, Ranke MB, Wollmann H, Eggermann T. 2000. Screening for uniparental disomy in growth-retarded patients: A case of UPD14. Medgen 12:P-II-5.68. (not in the abstract).]
-
(2000)
Medgen
, vol.12
-
-
Eggermann, K.1
Mergenthaler, S.2
Thissen, S.3
Zerres, K.4
Ranke, M.B.5
Wollmann, H.6
Eggermann, T.7
-
289
-
-
0032787806
-
Maternal UPD 20 in a hyperactive child with severe growth retardation
-
Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, Neumann A, Hansmann I, Claussen U. 1999. Maternal UPD 20 in a hyperactive child with severe growth retardation. Eur J Hum Genet 7:533-540.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 533-540
-
-
Chudoba, I.1
Franke, Y.2
Senger, G.3
Sauerbrei, G.4
Demuth, S.5
Beensen, V.6
Neumann, A.7
Hansmann, I.8
Claussen, U.9
-
290
-
-
0344259869
-
Maternal uniparental disomy for chromosome 20 in a hyperactive growth retarded child
-
[Chudoba I, Franke Y, Senger G, Sauerbrei G, Demuth S, Beensen V, Rubtsov N, Junker K, Neumann A, Hansmann I, Claussen U. 1997. Maternal uniparental disomy for chromosome 20 in a hyperactive growth retarded child. Med Genetik 9(1):150.]
-
(1997)
Med Genetik
, vol.9
, Issue.1
, pp. 150
-
-
Chudoba, I.1
Franke, Y.2
Senger, G.3
Sauerbrei, G.4
Demuth, S.5
Beensen, V.6
Rubtsov, N.7
Junker, K.8
Neumann, A.9
Hansmann, I.10
Claussen, U.11
-
291
-
-
0347123258
-
Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies
-
Venditti CP, Hunt P, Donnenfeld A, Zackai E, Spinner NB. 2004. Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies. Am J Med Genet 124A(3):274-279.
-
(2004)
Am J Med Genet
, vol.124 A
, Issue.3
, pp. 274-279
-
-
Venditti, C.P.1
Hunt, P.2
Donnenfeld, A.3
Zackai, E.4
Spinner, N.B.5
-
292
-
-
0000069765
-
Paternal uniparental isodisomy for human chromosome 20 and absence of external ears
-
Spinner NB, Rand E, Bucan M, Jirik E, Gogolin-Ewens C, Riethman HC, Mc Donald-Mc Ginn DM, Zackai EH. 1994. Paternal uniparental isodisomy for human chromosome 20 and absence of external ears. Am J Hum Genet 55(Suppl):674.
-
(1994)
Am J Hum Genet
, vol.55
, Issue.SUPPL.
, pp. 674
-
-
Spinner, N.B.1
Rand, E.2
Bucan, M.3
Jirik, E.4
Gogolin-Ewens, C.5
Riethman, H.C.6
Mc Donald-Mc Ginn, D.M.7
Zackai, E.H.8
-
293
-
-
0034605363
-
Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line
-
Bruyère H, Rupps R, Kuchinka BD, Friedman JM, Robinson WP. 2000. Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line. Am J Med Genet 94:35-41.
-
(2000)
Am J Med Genet
, vol.94
, pp. 35-41
-
-
Bruyère, H.1
Rupps, R.2
Kuchinka, B.D.3
Friedman, J.M.4
Robinson, W.P.5
-
294
-
-
0033525784
-
Maternal uniparental disomy of chromosome 21 in a normal child
-
Rogan PK, Sabol DW, Punnett HH. 1999. Maternal uniparental disomy of chromosome 21 in a normal child. Am J Med Genet 83:69-71.
-
(1999)
Am J Med Genet
, vol.83
, pp. 69-71
-
-
Rogan, P.K.1
Sabol, D.W.2
Punnett, H.H.3
-
295
-
-
0028094529
-
Early embryonic failure associated with uniparental disomy for human chromosome 21
-
Henderson DJ, Sherman LS, Loughna SC, Bennett PR, Moore GE. 1994. Early embryonic failure associated with uniparental disomy for human chromosome 21. Hum Mol Genet 3:1373-1376.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1373-1376
-
-
Henderson, D.J.1
Sherman, L.S.2
Loughna, S.C.3
Bennett, P.R.4
Moore, G.E.5
-
296
-
-
0028290335
-
Compensatory uniparental disomy of chromosome 21 in two cases
-
Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE, Mikkelsen M. 1994. Compensatory uniparental disomy of chromosome 21 in two cases. J Med Genet 31:534-540.
-
(1994)
J Med Genet
, vol.31
, pp. 534-540
-
-
Bartsch, O.1
Petersen, M.B.2
Stuhlmann, I.3
Mau, G.4
Frantzen, M.5
Schwinger, E.6
Antonarakis, S.E.7
Mikkelsen, M.8
-
297
-
-
0026725258
-
Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21
-
Petersen MB, Bartsch O, Adelsberger PA, Mikkelsen M, Schwinger E, Antonarakis SE. 1992. Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21. Genomics 13:269-274.
-
(1992)
Genomics
, vol.13
, pp. 269-274
-
-
Petersen, M.B.1
Bartsch, O.2
Adelsberger, P.A.3
Mikkelsen, M.4
Schwinger, E.5
Antonarakis, S.E.6
-
298
-
-
0023216251
-
Maternal origin of a de novo balanced t(21q;21q) identified by ets-2 polymorphism
-
Créau-Goldberg N, Gegonne A, Delabar J, Cochet C, Cabanis M-O, Stehlin D, Turleau C, de Grouchy J. 1987. Maternal origin of a de novo balanced t(21q;21q) identified by ets-2 polymorphism. Hum Genet 76:396-398.
-
(1987)
Hum Genet
, vol.76
, pp. 396-398
-
-
Créau-Goldberg, N.1
Gegonne, A.2
Delabar, J.3
Cochet, C.4
Cabanis, M.-O.5
Stehlin, D.6
Turleau, C.7
De Grouchy, J.8
-
299
-
-
0035712607
-
Low incidence of UPD in spontaneous abortions beyond the 5th gestational week
-
Fritz B, Asian M, Kalscheuer V, Ramsing M, Saar K, Fuchs B, Rehder H. 2001. Low incidence of UPD in spontaneous abortions beyond the 5th gestational week. Eur J Hum Genet 9:910-916.
-
(2001)
Eur J Hum Genet
, vol.9
, pp. 910-916
-
-
Fritz, B.1
Asian, M.2
Kalscheuer, V.3
Ramsing, M.4
Saar, K.5
Fuchs, B.6
Rehder, H.7
-
300
-
-
0028147431
-
A somatic origin of homologous robertsonian translocations and isochromosomes
-
Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LMS, Lüleci G, Schinzel A. 1994. A somatic origin of homologous robertsonian translocations and isochromosomes. Am J Hum Genet 54:290-302.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 290-302
-
-
Robinson, W.P.1
Bernasconi, F.2
Basaran, S.3
Yüksel-Apak, M.4
Neri, G.5
Serville, F.6
Balicek, P.7
Haluza, R.8
Lms, F.9
Lüleci, G.10
Schinzel, A.11
-
302
-
-
0027437280
-
Normal phenotype with paternal uniparental isodisomy for chromosome 21
-
[Blouin JL, Avramopoulos D, Pangalos C, Antonarakis SE. 1993. Normal phenotype with paternal uniparental isodisomy for chromosome 21. Am J Hum Genet 53(Suppl):1129.]
-
(1993)
Am J Hum Genet
, vol.53
, Issue.SUPPL.
, pp. 1129
-
-
Blouin, J.L.1
Avramopoulos, D.2
Pangalos, C.3
Antonarakis, S.E.4
-
303
-
-
0028290335
-
Compensatory uniparental disomy of chromosome 21 in two cases
-
Bartsch O, Petersen MB, Stuhlmann I, Mau G, Frantzen M, Schwinger E, Antonarakis SE, Mikkelsen M. 1994. Compensatory uniparental disomy of chromosome 21 in two cases. J Med Genet 31:534-540.
-
(1994)
J Med Genet
, vol.31
, pp. 534-540
-
-
Bartsch, O.1
Petersen, M.B.2
Stuhlmann, I.3
Mau, G.4
Frantzen, M.5
Schwinger, E.6
Antonarakis, S.E.7
Mikkelsen, M.8
-
304
-
-
0026725258
-
Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21
-
[Petersen MB, Bartsch O, Adelsberger PA, Mikkelsen M, Schwinger E, Antonarakis SE. 1992. Uniparental isodisomy due to duplication of chromosome 21 occurring in somatic cells monosomic for chromosome 21. Genomics 13:269-274.]
-
(1992)
Genomics
, vol.13
, pp. 269-274
-
-
Petersen, M.B.1
Bartsch, O.2
Adelsberger, P.A.3
Mikkelsen, M.4
Schwinger, E.5
Antonarakis, S.E.6
-
305
-
-
0345448878
-
Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: Trisomy rescue due to marker chromosome formation
-
Bartels I, Schlueter G, Liehr T, von Eggeling F, Starke H, Glaubitz R, Burfeind P. 2003. Supernumerary small marker chromosome (SMC) and uniparental disomy 22 in a child with confined placental mosaicism of trisomy 22: Trisomy rescue due to marker chromosome formation. Cytogenet Genome Res 101:103-105.
-
(2003)
Cytogenet Genome Res
, vol.101
, pp. 103-105
-
-
Bartels, I.1
Schlueter, G.2
Liehr, T.3
Von Eggeling, F.4
Starke, H.5
Glaubitz, R.6
Burfeind, P.7
-
306
-
-
22144480804
-
Maternal isodisomy 22 in a fetus with malformations
-
Duba H, Silye R, Haybäck J, Janecke A, Günther B, Arzt W. 2003: Maternal isodisomy 22 in a fetus with malformations. Europ J Hum Genet 11(Suppl):P416.
-
(2003)
Europ J Hum Genet
, vol.11
, Issue.SUPPL.
-
-
Duba, H.1
Silye, R.2
Haybäck, J.3
Janecke, A.4
Günther, B.5
Arzt, W.6
-
307
-
-
0032754186
-
Severe intrauterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta
-
Balmer D, Baumer A, Röthlisberger B, Schinzel A. 1999. Severe intrauterine growth retardation in a patient with maternal uniparental disomy 22 and a 22-trisomic placenta. Prenat Diag 19:1061-1062.
-
(1999)
Prenat Diag
, vol.19
, pp. 1061-1062
-
-
Balmer, D.1
Baumer, A.2
Röthlisberger, B.3
Schinzel, A.4
-
308
-
-
16944367292
-
Meiotic origin of trisomy in confined placental mosaicism correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction
-
Robinson WP, Barrett IJ, Bernard L. Telenius A, Bernasconi F, Wilson RD, Best RG, Howard-Peebles PN, Langlois S, Kalousek DK. 1997. Meiotic origin of trisomy in confined placental mosaicism correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction. Am J Hum Genet 60:917-927.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 917-927
-
-
Robinson, W.P.1
Barrett, I.J.2
Bernard, L.3
Telenius, A.4
Bernasconi, F.5
Wilson, R.D.6
Best, R.G.7
Howard-Peebles, P.N.8
Langlois, S.9
Kalousek, D.K.10
-
309
-
-
0011966870
-
Trisomy 22 mosaicism and maternal uniparental disomy
-
Desilets VA, Yong SL, Langlois S, Wilson RD, Kalousek DK, Pantzar TJ. 1996. Trisomy 22 mosaicism and maternal uniparental disomy. Am J Hum Genet 59(Suppl):1859.
-
(1996)
Am J Hum Genet
, vol.59
, Issue.SUPPL.
, pp. 1859
-
-
Desilets, V.A.1
Yong, S.L.2
Langlois, S.3
Wilson, R.D.4
Kalousek, D.K.5
Pantzar, T.J.6
-
310
-
-
0030752675
-
Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes
-
Crowe CA, Schwartz S, Black CJ, Jaswaney V. 1997. Mosaic trisomy 22: A case presentation and literature review of trisomy 22 phenotypes. Am J Med Genet 71:406-413.
-
(1997)
Am J Med Genet
, vol.71
, pp. 406-413
-
-
Crowe, C.A.1
Schwartz, S.2
Black, C.J.3
Jaswaney, V.4
-
311
-
-
0031023227
-
Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22
-
De Pater JM, Schuring-Blom GH, van den Bogaard R, van der Sijs-Bos CJM, Christiaens GCML, Stoutenbeek Ph, Leschot NJ. 1997. Maternal uniparental disomy for chromosome 22 in a child with generalized mosaicism for trisomy 22. Prenat Diag 17:81-86.
-
(1997)
Prenat Diag
, vol.17
, pp. 81-86
-
-
De Pater, J.M.1
Schuring-Blom, G.H.2
Van Den Bogaard, R.3
Van Der Sijs-Bos, C.J.M.4
Christiaens, G.C.M.L.5
Stoutenbeek, Ph.6
Leschot, N.J.7
-
312
-
-
0029839166
-
Der(22)t(11;22) resulting from paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22
-
Dawson AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H. 1996. Der(22)t(11;22) resulting from paternal de novo translocation, adjacent 1 segregation, and maternal heterodisomy of chromosome 22. J Med Genet 33:952-956.
-
(1996)
J Med Genet
, vol.33
, pp. 952-956
-
-
Dawson, A.J.1
Mears, A.J.2
Chudley, A.E.3
Bech-Hansen, T.4
McDermid, H.5
-
313
-
-
0028057387
-
Maternal uniparental disomy 22 has no impact on the phenotype
-
Schinzel A, Basaran S, Bernasconi F, Karaman B, Yüksel Apak M, Robinson WP. 1993. Maternal uniparental disomy 22 has no impact on the phenotype. Am J Hum Genet 54:21-24.
-
(1993)
Am J Hum Genet
, vol.54
, pp. 21-24
-
-
Schinzel, A.1
Basaran, S.2
Bernasconi, F.3
Karaman, B.4
Yüksel Apak, M.5
Robinson, W.P.6
-
314
-
-
0028147431
-
A somatic origin of homologous robertsonian translocations and isochromosomes
-
Robinson WP, Bernasconi F, Basaran S, Yüksel-Apak M, Neri G, Serville F, Balicek P, Haluza R, Farah LMS, Lüleci G, Schinzel A. 1994. A somatic origin of homologous robertsonian translocations and isochromosomes. Am J Hum Genet 54:290-302.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 290-302
-
-
Robinson, W.P.1
Bernasconi, F.2
Basaran, S.3
Yüksel-Apak, M.4
Neri, G.5
Serville, F.6
Balicek, P.7
Haluza, R.8
Lms, F.9
Lüleci, G.10
Schinzel, A.11
-
315
-
-
0019132131
-
Habitual abortion and translocation (22q;22q): Unexpected transmission from a mother to her phenotypically normal daughter
-
Kirkels VGHJ, Hustin Th WJ, Scheres JMJC. 1980. Habitual abortion and translocation (22q;22q): Unexpected transmission from a mother to her phenotypically normal daughter. Clin Genet 18:456-461.
-
(1980)
Clin Genet
, vol.18
, pp. 456-461
-
-
Kirkels, V.G.H.J.1
Hustin, Th.W.J.2
Scheres, J.M.J.C.3
-
316
-
-
0018875222
-
Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter
-
Palmer CG, Schwartz S, Hodes ME. 1980. Transmission of a balanced homologous t(22q;22q) translocation from mother to normal daughter. Clin Genet 17:418-422.
-
(1980)
Clin Genet
, vol.17
, pp. 418-422
-
-
Palmer, C.G.1
Schwartz, S.2
Hodes, M.E.3
-
317
-
-
32644471333
-
Unexpected fertility in men with robertsonian translocation (22q;22q) and a new paternal uniparental disomy 22
-
Ouldim K, Sbiti A, Natiq H, Arazam A, Laamari A, El-Kerch F, Sefiani A. 2004. Unexpected fertility in men with robertsonian translocation (22q;22q) and a new paternal uniparental disomy 22. Am J Hum Genet 75(Suppl):A915.
-
(2004)
Am J Hum Genet
, vol.75
, Issue.SUPPL.
-
-
Ouldim, K.1
Sbiti, A.2
Natiq, H.3
Arazam, A.4
Laamari, A.5
El-Kerch, F.6
Sefiani, A.7
-
318
-
-
0001139712
-
Paternal uniparental disomy 22
-
Miny P, Koppers B, Bogadanova N, Schulte-Vallentin M, Horst J, Dworniczak B. 1995. Paternal uniparental disomy 22. Med Genetik 7(216):H-76.
-
(1995)
Med Genetik 7
, Issue.216
-
-
Miny, P.1
Koppers, B.2
Bogadanova, N.3
Schulte-Vallentin, M.4
Horst, J.5
Dworniczak, B.6
-
319
-
-
17744386957
-
Clinical and molecular studies in 15 females with ring X chromosomes: Implications for r(X) formation and mental development
-
Matsuo M, Muroya K, Adachi M, Tachibana K, Asakura Y, Nakagomi Y, Hanaki K, Yokoya S, Yoshizawa A, Igarashi Y, Hanew K, Matsuo N, Ogata T. 2000. Clinical and molecular studies in 15 females with ring X chromosomes: Implications for r(X) formation and mental development. Hum Genet 107:433-439.
-
(2000)
Hum Genet
, vol.107
, pp. 433-439
-
-
Matsuo, M.1
Muroya, K.2
Adachi, M.3
Tachibana, K.4
Asakura, Y.5
Nakagomi, Y.6
Hanaki, K.7
Yokoya, S.8
Yoshizawa, A.9
Igarashi, Y.10
Hanew, K.11
Matsuo, N.12
Ogata, T.13
-
320
-
-
0034058078
-
Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype
-
Turner C, Dennis NR, Skuse DH, Jacobs PA. 2000. Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype. Hum Genet 106(1):93-100.
-
(2000)
Hum Genet
, vol.106
, Issue.1
, pp. 93-100
-
-
Turner, C.1
Dennis, N.R.2
Skuse, D.H.3
Jacobs, P.A.4
-
321
-
-
0033786952
-
A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes
-
Dennis N, Coppin B, Turner C, Skuse D, Jacobs P. 1998. A clinical, cytogenetic and molecular study of 47 females with r(X) chromosomes. Ann Hum Genet 64(Pt 4):277-293.
-
(1998)
Ann Hum Genet
, vol.64
, Issue.PART 4
, pp. 277-293
-
-
Dennis, N.1
Coppin, B.2
Turner, C.3
Skuse, D.4
Jacobs, P.5
-
322
-
-
0031839540
-
Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes
-
Yorifuji T, Muroi J, Kawai M, Uematsu A, Sasaki H, Momoi T, Kaji M, Yamanaka Ch, Furusho K. 1998. Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes. J Med Genet 35:539-544.
-
(1998)
J Med Genet
, vol.35
, pp. 539-544
-
-
Yorifuji, T.1
Muroi, J.2
Kawai, M.3
Uematsu, A.4
Sasaki, H.5
Momoi, T.6
Kaji, M.7
Yamanaka, Ch.8
Furusho, K.9
-
323
-
-
0344259866
-
Uniparental pentasomy X in a girl with 49,XXXXX karyotype
-
109
-
Fritz B, Böck A, Aslan M, Braun M, Haas O, Winkler E, Rehder H. 1998. Uniparental pentasomy X in a girl with 49,XXXXX karyotype. Med Genetik 10:109:W8-W13.
-
(1998)
Med Genetik
, vol.10
-
-
Fritz, B.1
Böck, A.2
Aslan, M.3
Braun, M.4
Haas, O.5
Winkler, E.6
Rehder, H.7
-
324
-
-
0031036182
-
Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy
-
Quan F, Janas J, Toth-Fejel SE, Johnson DB, Wolford JK, Popovich BW. 1997. Uniparental disomy of the entire X chromosome in a female with Duchenne muscular dystrophy. Am J Hum Genet 60:160-165.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 160-165
-
-
Quan, F.1
Janas, J.2
Toth-Fejel, S.E.3
Johnson, D.B.4
Wolford, J.K.5
Popovich, B.W.6
-
325
-
-
0029655347
-
Lack of X inactivation associated with maternal X isodisomy: Evidence for a counting mechanism prior to X inactivation during human embryogenesis
-
Migeon BR, Jeppesen P, Torchia BS, Fu S, Dunn MA, Axelman J, Schmeckpeper BJ, Fantes J, Zori RT, Driscoll DJ. 1996. Lack of X inactivation associated with maternal X isodisomy: Evidence for a counting mechanism prior to X inactivation during human embryogenesis. Am J Hum Genet 58:161-170.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 161-170
-
-
Migeon, B.R.1
Jeppesen, P.2
Torchia, B.S.3
Fu, S.4
Dunn, M.A.5
Axelman, J.6
Schmeckpeper, B.J.7
Fantes, J.8
Zori, R.T.9
Driscoll, D.J.10
-
326
-
-
0028263958
-
Multiple origins of X chromosome tetrasomy
-
Robinson WP, Binkert F, Schinzel A, Basaran S, Mikelsaar R. 1995. Multiple origins of X chromosome tetrasomy. J Med Genet 31:424-425.
-
(1995)
J Med Genet
, vol.31
, pp. 424-425
-
-
Robinson, W.P.1
Binkert, F.2
Schinzel, A.3
Basaran, S.4
Mikelsaar, R.5
-
327
-
-
4243603527
-
Uniparental disomy of sex chromosomes in man
-
Avivi L, Korenstein A, Braier-Goldstein O, Goldman B, Ravia Y. 1992. Uniparental disomy of sex chromosomes in man. Am J Hum Genet 51(Suppl):33.
-
(1992)
Am J Hum Genet
, vol.51
, Issue.SUPPL.
, pp. 33
-
-
Avivi, L.1
Korenstein, A.2
Braier-Goldstein, O.3
Goldman, B.4
Ravia, Y.5
-
328
-
-
18344367819
-
Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation
-
Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L. 2002. Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. J Med Genet 39:266-270.
-
(2002)
J Med Genet
, vol.39
, pp. 266-270
-
-
Rio, M.1
Molinari, F.2
Heuertz, S.3
Ozilou, C.4
Gosset, P.5
Raoul, O.6
Cormier-Daire, V.7
Amiel, J.8
Lyonnet, S.9
Le Merrer, M.10
Turleau, C.11
De Blois, M.C.12
Prieur, M.13
Romana, S.14
Vekemans, M.15
Munnich, A.16
Colleaux, L.17
-
329
-
-
0032847053
-
Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male
-
Stuppia L, Calabrese G, Borrelli P, Gatta V, Morizio E, Mingarelli R, Di Gilio MC, Crino A, Giannotti A, Rappold GA, Palka G. 1999. Loss of the SHOX gene associated with Leri-Weill dyschondrosteosis in a 45,X male. J Med Genet 36:711-713.
-
(1999)
J Med Genet
, vol.36
, pp. 711-713
-
-
Stuppia, L.1
Calabrese, G.2
Borrelli, P.3
Gatta, V.4
Morizio, E.5
Mingarelli, R.6
Di Gilio, M.C.7
Crino, A.8
Giannotti, A.9
Rappold, G.A.10
Palka, G.11
-
330
-
-
0031839540
-
Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes
-
Yorifuji T, Muroi J, Kawai M, Uematsu A, Sasaki H, Momoi T, Kaji M, Yamanaka Ch, Furusho K. 1998. Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes. J Med Genet 35:539-544.
-
(1998)
J Med Genet
, vol.35
, pp. 539-544
-
-
Yorifuji, T.1
Muroi, J.2
Kawai, M.3
Uematsu, A.4
Sasaki, H.5
Momoi, T.6
Kaji, M.7
Ch, Y.8
Furusho, K.9
-
331
-
-
0027375457
-
A45,X male with an X;Y translocation: Implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata
-
Weil D, Portnoi M-F, Levilliers J, Wang I, Mathieu M, Taillemite J-L, Meier M, Boudailliez B, Petit Ch. 1993. A45,X male with an X;Y translocation: Implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata. Hum Mol Genet 2:1853-1856.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1853-1856
-
-
Weil, D.1
Portnoi, M.-F.2
Levilliers, J.3
Wang, I.4
Mathieu, M.5
Taillemite, J.-L.6
Meier, M.7
Boudailliez, B.8
Petit, Ch.9
-
332
-
-
0027202608
-
Exclusively paternal X chromosomes in a girl with short stature and gonadal dysfunction
-
Schinzel A, Robinson WP, Binkert F, Torresani T, Werder A. 1993. Exclusively paternal X chromosomes in a girl with short stature and gonadal dysfunction. Hum Genet 92:175-178.
-
(1993)
Hum Genet
, vol.92
, pp. 175-178
-
-
Schinzel, A.1
Robinson, W.P.2
Binkert, F.3
Torresani, T.4
Werder, A.5
-
333
-
-
0006689746
-
Father-to-son transmission of hemophilia a due to uniparental disomy
-
Vidaud D, Vidaud M, Plassa F, Gazengel C, Noel B, Goossens B. 1989. Father-to-son transmission of hemophilia A due to uniparental disomy. Am J Hum Genet 45(Suppl):889.
-
(1989)
Am J Hum Genet
, vol.45
, Issue.SUPPL.
, pp. 889
-
-
Vidaud, D.1
Vidaud, M.2
Plassa, F.3
Gazengel, C.4
Noel, B.5
Goossens, B.6
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