-
1
-
-
0018939994
-
A new genetic concept: Uniparental disomy and its potential effect, isodisomy
-
(1980)
Am J Med Genet
, vol.6
, pp. 137-143
-
-
Engel, E.1
-
2
-
-
0034098812
-
Mechanisms leading to uniparental disomy and their clinical consequences
-
(2000)
BioEssays
, vol.22
, pp. 452-459
-
-
Robinson, W.P.1
-
4
-
-
0033613977
-
Abnormal phenotypes in uniparental disomy (UPD) - Fundamental aspects and a critical review with bibliography of UPD other than 15
-
(1999)
Am J Med Genet
, vol.82
, pp. 265-274
-
-
Kotzot, D.1
-
5
-
-
0027793754
-
Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: A post-fertilization event
-
(1993)
Eur J Hum Genet
, vol.1
, pp. 19-29
-
-
Henry, I.1
Puech, A.2
Riesewijk, A.3
Ahnine, L.4
Mannens, M.5
Beldjord, C.6
Bitoun, P.7
Tournade, M.F.8
Landrieu, P.9
Junien, C.10
-
11
-
-
0033652302
-
Partial paternal uniparental disomy of chromosome 6 in an infant with neonatal diabetes, macroglossia, and craniofacial abnormalities
-
(2000)
Am J Hum Genet
, vol.67
, pp. 1586-1591
-
-
Das, S.1
Lese, C.M.2
Song, M.3
Jensen, J.L.4
Wells, L.A.5
Barnoski, B.L.6
Roseberry, A.7
Camacho, J.M.8
Ledbetter, D.H.9
Schnur, R.E.10
-
16
-
-
0001235715
-
Cytogenetic and molecular studies in 32 Silver Russell syndrome patients (SRS)
-
(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
-
18
-
-
0026566594
-
Prader-Willi syndrome and Angelman syndrome in cousins from a family with a translocation between chromosomes 6 and 15
-
(1992)
N Engl J Med
, vol.326
, pp. 807-811
-
-
Smeets, D.F.C.M.1
Hamel, B.C.J.2
Nelen, M.R.3
Smeets, H.J.M.4
Bollen, J.H.M.5
Smits, A.P.T.6
Ropers, H.H.7
Van Oost, B.A.8
-
22
-
-
0000208862
-
Uniparental disomy testing in a clinical setting
-
(2000)
Am J Hum Genet
, vol.67
, Issue.SUPPL. 2
, pp. 1927
-
-
Pereira, C.R.1
Kennedy, D.L.2
Maktam, E.3
Rezaie, A.4
Skuterud, M.5
Steer, J.6
Tzountzouris, J.P.7
Allingham-Hawkins, D.J.8
-
29
-
-
0002761766
-
Risk of uniparental disomy in Robertsonian translocation carriers: Identification of UPD14 in a small cohort
-
(1998)
Am J Hum Genet Suppl
, vol.63
, 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
-
36
-
-
0029966577
-
The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1008-1016
-
-
Toth-Fejel, S.E.1
Olson, S.2
Gunter, K.3
Quan, F.4
Wolford, J.5
Popovich, B.W.6
Magenis, R.E.7
-
37
-
-
0027930212
-
A variety of genetic mechanisms are associated with the Prader-Willi syndrome
-
(1994)
Am J Med Genet
, vol.54
, pp. 219-226
-
-
Woodage, T.1
Deng, Z.M.2
Prasad, M.3
Smart, R.4
Lindeman, R.5
Christian, S.L.6
Ledbetter, D.L.7
Robson, L.8
Smith, A.9
Trent, R.J.10
-
39
-
-
0027509686
-
Fluorescence in-situ hybridisation and molecular studies used in the characterisation of a Robertsonian translocation (13q15q) in Prader-Willi syndrome
-
(1993)
Clin Genet
, vol.43
, pp. 5-8
-
-
Smith, A.1
Robson, I.2
Neumann, A.3
Mulcahy, M.4
Chabros, V.5
Deng, Z.M.6
Woodage, T.7
Trent, R.J.8
-
42
-
-
0033613895
-
Uniparental isodisomy resulting from 46,XX,i(1p),i(1q) in a woman with short stature ptosis, micro/retrognathia, myopathy, deafness, and sterility
-
(1999)
Am J Med Genet
, vol.82
, pp. 215-218
-
-
Chen, P.H.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
-
54
-
-
0029742477
-
Isochromosome 15q of maternal origin in a Prader-Willi patient with pituitary adenoma
-
(1996)
Acta Genet Med Gemellol
, vol.45
, pp. 213-216
-
-
Bettio, D.1
Giardino, D.2
Rizzi, N.3
Riva, P.4
Volpi, L.5
Barantani, E.6
Tagliferri, A.7
Larizza, L.8
-
56
-
-
0026341657
-
Molecular study of Prader-Willi syndrome: Deletion, RFLP, and phenotype analysis of 50 patients
-
(1991)
Am J Med Genet
, vol.41
, pp. 54-63
-
-
Hamabe, J.1
Fukushima, Y.2
Harada, N.3
Abe, K.4
Matsuo, N.5
Nagai, T.6
Yoshioka, A.7
Tonoki, H.8
Tsukino, R.9
Niikawa, N.10
-
57
-
-
0028147431
-
A somatic origin of homologous Robertsonian translocations and isochromosomes
-
(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
-
69
-
-
0029835877
-
Short-limb dwarfism and hypertrophic cardiomyopathy in a patient with paternal isodisomy 14: 45,XY,idic(14)(p11)
-
(1996)
Am J Med Genet
, vol.65
, pp. 259-265
-
-
Walter, C.A.1
Shaffer, L.G.2
Kaye, C.I.3
Huff, R.W.4
Ghidoni, P.D.5
McCaskill, C.6
McFarland, M.B.7
Moore, C.M.8
-
71
-
-
0023216251
-
Maternal origin of a de novo balanced t(21q;21q) identified by ets-2 polymorphism
-
(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
-
78
-
-
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?
-
(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
-
80
-
-
0032958525
-
47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7) mat mosaicism in a gift with Silver-Russell syndrome (SRS): Possible exclusion of the putative SRS gene from a 7p13-q11 region
-
(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
-
81
-
-
0004190581
-
Uniparental disomy of chromosome 8 due to a pseudodicentric chromosome: Possible mechanisms and consequences
-
(1998)
Am J Hum Genet Suppl
, vol.63
, 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
-
86
-
-
0027240268
-
Uniparental disomy explains the occurrence of the Angelman or Prader-Willi syndrome in patients with an additional small inv dup(15) chromosome
-
(1993)
J Med Genet
, vol.30
, pp. 756-760
-
-
Robinson, W.P.1
Wagstaff, J.2
Bernasconi, F.3
Baccichetti, C.4
Artifoni, L.5
Franzoni, E.6
Suslak, L.7
Shih, L.Y.8
Aviv, H.9
Schinzel, A.A.10
-
87
-
-
0001933980
-
Clinical features of Prader-Willi syndrome in a girl with methylation status of Angelman syndrome
-
(1998)
Eur J Hum Genet Suppl
, vol.6
-
-
Lebbar, A.1
Dupont, J.M.2
Cuisset, L.3
Pinton, F.4
Vasseur, C.5
Le Tessier, D.6
Denavit, M.F.7
Ponsot, G.8
Delpech, M.9
Rabineau, D.10
-
88
-
-
0030733443
-
Trisomy first, translocation second, uniparental disomy and partial trisomy third: A new mechanism for complex chromosomal aneuploidy
-
(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
-
89
-
-
0000069765
-
Paternal uniparental isodisomy for human chromosome 20 and absence of external ears
-
(1994)
Am J Hum Genet Suppl
, vol.55
, 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-McGinn, D.M.7
Zackai, E.H.8
-
90
-
-
0032787806
-
Maternal UPD 20 in a hyperactive child with severe growth retardation
-
(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
-
92
-
-
0027375457
-
A 45,X male with an X;Y translocation: Implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata
-
(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, C.9
-
93
-
-
0029655347
-
Lack of X inactivation associated with maternal X isodisomy: Evidence for a counting mechanism prior to X inactivation during human embryogenesis
-
(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
-
95
-
-
0031839540
-
Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes
-
(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, C.8
Furusho, K.9
-
96
-
-
17744386957
-
Clinical and molecular studies in 15 females with ring X chromosomes: Implications for r(X) formation and mental development
-
(2000)
Hum Genet
, vol.107
, pp. 433-439
-
-
Matsuo, M.1
Muroya, K.2
Adache, 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
-
101
-
-
0034113750
-
Maternal uniparental disomy 7 - Review and further delineation of the phenotype
-
(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
-
105
-
-
0029658702
-
Cytogenetic and age-dependent risk factors associated with uniparental disomy 15
-
(1996)
Prenat Diagn
, vol.16
, pp. 837-844
-
-
Robinson, W.P.1
Langlois, S.2
Schuffenhauer, S.3
Horsthemke, B.4
Michaelis, R.C.5
Christian, S.6
Ledbetter, D.H.7
Schinzel, A.8
-
110
-
-
0027375457
-
A 45,X male with an X;Y translocation: Implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata
-
(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
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