-
1
-
-
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
-
2
-
-
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 [Suppl] 51: 33
-
(1992)
Am J Hum Genet [Suppl]
, vol.51
, pp. 33
-
-
Avivi, L.1
Korenstein, A.2
Braier-Goldstein, O.3
Goldman, B.4
Ravia, Y.5
-
3
-
-
0026690729
-
Uniparental disomy: A novel mechanism for thalassemia major
-
Beldjord Ch, Henry I, Bennani Ch, Vanhaeke D, Labie D (1992) Uniparental disomy: a novel mechanism for thalassemia major. Blood 80: 287-289
-
(1992)
Blood
, vol.80
, pp. 287-289
-
-
Beldjord, Ch.1
Henry, I.2
Bennani, Ch.3
Vanhaeke, D.4
Labie, D.5
-
4
-
-
0002929450
-
Confined placental mosaicism for trisomy 2 with maternal uniparental disomy of chromosome 2
-
3a. 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
-
5
-
-
0016153298
-
Hétérozygotie et homozygotie pour un inversion péricentrique du 3 humain
-
Betz A, Turleau C, Grouchy J de (1974) Hétérozygotie et homozygotie pour un inversion péricentrique du 3 humain. Ann Genet 17: 77-80
-
(1974)
Ann Genet
, vol.17
, pp. 77-80
-
-
Betz, A.1
Turleau, C.2
De Grouchy, J.3
-
6
-
-
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
-
7
-
-
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
-
8
-
-
0028108657
-
Genetic imprinting in the mouse: Implications for gene regulation
-
Cattanach BM, Jones J (1994) Genetic imprinting in the mouse: implications for gene regulation. J Inherit Metab Dis 17: 403-120
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 403-1120
-
-
Cattanach, B.M.1
Jones, J.2
-
10
-
-
0005568516
-
Maternal uniparental disomy for chromosome 14
-
8a. Coviello DA, Panucci K, 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, K.2
Mantero, M.M.3
Perfumo, C.4
Guelfi, M.5
Borronco, C.6
Dagna-Bricarelli, F.7
-
11
-
-
0344691600
-
Uniparental disomy for chromosome 14 - Evidence for an imprinting effect
-
Diamond TM, Müller OM, Sutcliffe M, Papenhausen PR, Tedesco TA, Kousseff BG (1993) Uniparental disomy for chromosome 14 - evidence for an imprinting effect. Am J Hum Genet [Suppl] 51: 541
-
(1993)
Am J Hum Genet [Suppl]
, vol.51
, pp. 541
-
-
Diamond, T.M.1
Müller, O.M.2
Sutcliffe, M.3
Papenhausen, P.R.4
Tedesco, T.A.5
Kousseff, B.G.6
-
12
-
-
0028220882
-
The Prader-Willi syndrome
-
Donaldson MDC, Chu CE, Cooke A, Wilson A, Greene SA, Stephenson JBP (1994) The Prader-Willi syndrome. Arch Dis Child 70: 58-63
-
(1994)
Arch Dis Child
, vol.70
, pp. 58-63
-
-
Donaldson, M.D.C.1
Chu, C.E.2
Cooke, A.3
Wilson, A.4
Greene, S.A.5
Stephenson, J.B.P.6
-
13
-
-
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
-
14
-
-
0028470672
-
Beckwith-Wiedemann syndrome
-
Elliott M, Maher ER (1994) Beckwith-Wiedemann syndrome. J Med Genet 31: 560-564
-
(1994)
J Med Genet
, vol.31
, pp. 560-564
-
-
Elliott, M.1
Maher, E.R.2
-
15
-
-
0025360106
-
Genomic imprinting: Review and relevance to human diseases
-
Hall JG (1990) Genomic imprinting: review and relevance to human diseases. Am J Hum Genet 46: 857-873
-
(1990)
Am J Hum Genet
, vol.46
, pp. 857-873
-
-
Hall, J.G.1
-
16
-
-
0029077269
-
Maternal uniparental disomy of chromosome 2 in a baby with trisomy 2 mosaicism in amniotic fluid culture
-
Harrison K, Eisenger K, Kwame A-Y, 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
Kwame, A.-Y.3
Brown, S.4
-
17
-
-
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
-
18
-
-
0028223676
-
A systematic search for uniparental disomy in carriers of chromosomal translocations
-
James RS, Temple IK, Patch C, Thompson EM, Hassold T, Jacobs PA (1994) A systematic search for uniparental disomy in carriers of chromosomal 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
-
19
-
-
0028968840
-
A search for uniparental disomy in carriers of supernumerary marker chromosomes
-
James RS, Temple IK, Dennis IK, 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, I.K.3
Crolla, J.A.4
-
20
-
-
0029117386
-
Identification of a case of maternal disomy of chromosome 10 assoicated with confined placental mosaicism
-
Jones C, Booth C, Rita D, Jazmines L, Spiro R, McCulloch B, McCaskill Ch, Shaffer LG (1995) Identification of a case of maternal disomy of chromosome 10 assoicated 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
McCulloch, B.6
McCaskill, Ch.7
Shaffer, L.G.8
-
21
-
-
0028914364
-
Uniparental disomy 7 in Silver-Russell syndrome and primordial growth retardation
-
Kotzot D, Schmitt S, Bernasconi F, Robinson WP, Lune 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
Lune, 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
-
22
-
-
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 [Suppl] 51: 863
-
(1992)
Am J Hum Genet [Suppl]
, vol.51
, pp. 863
-
-
Kousseff, B.G.1
Gallardo, L.A.2
Mueller, O.T.3
-
23
-
-
0028867372
-
Prenatal and postnatal failure associated with maternal heterodisomy for chromosome 7
-
20a. 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
-
24
-
-
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 [Suppl] 49: 1582
-
(1991)
Am J Hum Genet [Suppl]
, vol.49
, pp. 1582
-
-
Lindenbaum, R.H.1
Woods, C.G.2
Norbury, C.G.3
Povey, S.4
Rystecki, G.5
-
25
-
-
0029038062
-
Uniparental disomy in congenital disorders: A prospective study
-
Lindor NM, Karnes PS, Michels VV, Dewald GW, Goerss J, Jalal S, Jenkins RB, Vockley G, Thibodeau SN (1995) Uniparental disomy in congenital disorders: A prospective study. Am J Med Genet 58: 143-146
-
(1995)
Am J Med Genet
, vol.58
, pp. 143-146
-
-
Lindor, N.M.1
Karnes, P.S.2
Michels, V.V.3
Dewald, G.W.4
Goerss, J.5
Jalal, S.6
Jenkins, R.B.7
Vockley, G.8
Thibodeau, S.N.9
-
26
-
-
0023629482
-
Variation in the frequency and type of sperm chromosomal abnormalities among normal men
-
Martin RH, Rademaker AW, Hildebrand K, Long-Simpson L, Yamamoto J (1987) Variation in the frequency and type of sperm chromosomal abnormalities among normal men. Hum Genet 77: 108-114
-
(1987)
Hum Genet
, vol.77
, pp. 108-114
-
-
Martin, R.H.1
Rademaker, A.W.2
Hildebrand, K.3
Long-Simpson, L.4
Yamamoto, J.5
-
27
-
-
0001139712
-
Paternal uniparental disomy 22
-
Miny P, Koppers B, Bogadanova N, Schulte-Vallentin M, Horst J, Dworniczak B (1995) Paternal uniparental disomy 22. Med Genet 7: 216
-
(1995)
Med Genet
, vol.7
, pp. 216
-
-
Miny, P.1
Koppers, B.2
Bogadanova, N.3
Schulte-Vallentin, M.4
Horst, J.5
Dworniczak, B.6
-
28
-
-
0013693469
-
Maternal uniparental disomy for chromosome 14 by secondary nondisjunction 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 nondisjunction of a initial trisomy. Am J Hum Genet [Suppl] 55: 2224
-
(1994)
Am J Hum Genet [Suppl]
, vol.55
, 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
-
29
-
-
0028794035
-
Uniparental isodisomy of chromosome 14 in two cases: An abnormal child and a normal adult
-
25a. 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
-
30
-
-
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
-
31
-
-
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
-
32
-
-
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
-
33
-
-
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
-
34
-
-
0028069956
-
Maternal uniparental disomy of chromosome 13 in a phenotypically normal child
-
Slater H, Shaw JH, Dawson G, Bankier A, Forrest SM (1994) Maternal uniparental disomy 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
-
35
-
-
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, McDonald-McGinn DM, Zackai EH (1994) Paternal uniparental isodisomy for human chromosome 20 and absence of external ears. Am J Hum Genet [Suppl] 55: 674
-
(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
McDonald-McGinn, D.M.7
Zackai, E.H.8
-
36
-
-
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
-
37
-
-
0344691629
-
Uniparental disomy as an explanation of presumptive low penetrance
-
32a. 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
-
38
-
-
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? Nat Genet 9: 110-112
-
(1994)
Nat 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
-
39
-
-
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 [Suppl] 55: 685
-
(1994)
Am J Hum Genet [Suppl]
, vol.55
, pp. 685
-
-
Tomkins, D.J.1
Waye, J.S.2
Whelan, D.T.3
Cox, D.W.4
-
40
-
-
0023955134
-
Editorial: Uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes
-
Warburton D (1988) Editorial: uniparental disomy: a rare consequence of the high rate of aneuploidy in human gametes. Am J Hum Genet 42: 215-216
-
(1988)
Am J Hum Genet
, vol.42
, pp. 215-216
-
-
Warburton, D.1
-
41
-
-
0029028023
-
A case of paternal uniparental disomy for chromosome 11
-
35a. Webb A, Beard J, Wright C, Robson S, Wolstenholme J, Goodship J (1995) 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
-
42
-
-
0029079282
-
Uniparental isodisomy for chromosome 16 in a growth-retarded infant with congenital heart disease
-
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 congenital heart disease. 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
-
43
-
-
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
-
44
-
-
0028925188
-
An audit of trisomy 16 in man
-
Wolstenholme J (1995) An audit of trisomy 16 in man. Prenat Diagn 15: 109-121
-
(1995)
Prenat Diagn
, vol.15
, pp. 109-121
-
-
Wolstenholme, J.1
-
45
-
-
0023103378
-
Chromosome analysis of human oocytes recovered from preovulatory follicles in stimulated cycles
-
Wramsby H, Fredga K, Liedholm P (1987) Chromosome analysis of human oocytes recovered from preovulatory follicles in stimulated cycles. N Engl J Med 316: 121-124
-
(1987)
N Engl J Med
, vol.316
, pp. 121-124
-
-
Wramsby, H.1
Fredga, K.2
Liedholm, P.3
|