-
1
-
-
0026445152
-
The association between confined placental trisomy, fetal uniparental disomy and early intrauterine growth retardation
-
Bennet P, Vaughan J, Henderson D (1992): The association between confined placental trisomy, fetal uniparental disomy and early intrauterine growth retardation. Lancet 340:1284-1285.
-
(1992)
Lancet
, vol.340
, pp. 1284-1285
-
-
Bennet, P.1
Vaughan, J.2
Henderson, D.3
-
4
-
-
0026629938
-
Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy
-
Cassidy SB, Li-Wen L, Erickson RP, Magnuson L, Thomas E, Gendron R, Herrmann J (1992): Trisomy 15 with loss of the paternal 15 as a cause of Prader-Willi syndrome due to maternal disomy. Am J Hum Genet 51:701-708.
-
(1992)
Am J Hum Genet
, vol.51
, pp. 701-708
-
-
Cassidy, S.B.1
Li-Wen, L.2
Erickson, R.P.3
Magnuson, L.4
Thomas, E.5
Gendron, R.6
Herrmann, J.7
-
5
-
-
0344691593
-
Maternal origin of both chromosome 16 in a phenotypically normal newborn
-
Dworniczak B, Koppers B, Kurlemann G (1992): Maternal origin of both chromosome 16 in a phenotypically normal newborn. Am J Hum Genet 51:(Supplement) A51.
-
(1992)
Am J Hum Genet
, vol.51
, Issue.SUPPL.
-
-
Dworniczak, B.1
Koppers, B.2
Kurlemann, G.3
-
6
-
-
0028293717
-
Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16
-
Garber A, Carlson D, Schreck R, Fischel-Ghodsian N, Wei-Tong H, Oeztas S, Pepowitz S, Graham JM (1994): Prenatal diagnosis and dysmorphic findings in mosaic trisomy 16. Prenat Diagn 14:257-266.
-
(1994)
Prenat Diagn
, vol.14
, pp. 257-266
-
-
Garber, A.1
Carlson, D.2
Schreck, R.3
Fischel-Ghodsian, N.4
Wei-Tong, H.5
Oeztas, S.6
Pepowitz, S.7
Graham, J.M.8
-
7
-
-
0028231090
-
Genethon human genetic linkage map
-
Gyapay G, Morrissette J, Vagnal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994): Genethon human genetic linkage map. Nat Genetics 7:246-339.
-
(1994)
Nat Genetics
, vol.7
, pp. 246-339
-
-
Gyapay, G.1
Morrissette, J.2
Vagnal, A.3
Dib, C.4
Fizames, C.5
Millasseau, P.6
Marc, S.7
Bernardi, G.8
Lathrop, M.9
Weissenbach, J.10
-
8
-
-
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
-
9
-
-
0024361809
-
Trisomy 16 detected at chorion villus sampling
-
Hashish AF, Monk NA, Lovell-Smith MPF, Bardwell LM, Fiddes TM, Gardner RJM (1989): Trisomy 16 detected at chorion villus sampling. Prenatal Diagnosis 9:427-432.
-
(1989)
Prenatal Diagnosis
, vol.9
, pp. 427-432
-
-
Hashish, A.F.1
Monk, N.A.2
Lovell-Smith, M.P.F.3
Bardwell, L.M.4
Fiddes, T.M.5
Gardner, R.J.M.6
-
10
-
-
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
-
11
-
-
0027359518
-
The effect of confined placental mosaicism on development of the human aneupluid conceptus
-
Kalousek DK (1993): The effect of confined placental mosaicism on development of the human aneupluid conceptus. BD:OAS 29:39-51.
-
(1993)
BD:OAS
, vol.29
, pp. 39-51
-
-
Kalousek, D.K.1
-
12
-
-
0028268934
-
Current topic: Confined placental mosaicism and intrauterine fetal development
-
Kalousek DK (1994): Current topic: Confined placental mosaicism and intrauterine fetal development. Placenta 15:219-230.
-
(1994)
Placenta
, vol.15
, pp. 219-230
-
-
Kalousek, D.K.1
-
13
-
-
0026560379
-
Spontaneous abortion and confined chromosomal mosaicism
-
Kalousek DK, Barrett, Gartner AB (1992): Spontaneous abortion and confined chromosomal mosaicism. Hum Genet 88:642-646.
-
(1992)
Hum Genet
, vol.88
, pp. 642-646
-
-
Kalousek, D.K.1
Barrett2
Gartner, A.B.3
-
14
-
-
0020606517
-
Chromosomal mosaicism confined to the placenta in human conceptions
-
Kalousek DK, Dill FJ (1983): Chromosomal mosaicism confined to the placenta in human conceptions. Science 221:665-667.
-
(1983)
Science
, vol.221
, pp. 665-667
-
-
Kalousek, D.K.1
Dill, F.J.2
-
15
-
-
0025991931
-
Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism
-
Kalousek DK, Howard-Peebles PN, Olson SB, Barrett IJ, Dorfmann A, Black SH, Schulman JD, Wilson RD (1991): Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenatal Diagnosis 11:743-750.
-
(1991)
Prenatal Diagnosis
, vol.11
, pp. 743-750
-
-
Kalousek, D.K.1
Howard-Peebles, P.N.2
Olson, S.B.3
Barrett, I.J.4
Dorfmann, A.5
Black, S.H.6
Schulman, J.D.7
Wilson, R.D.8
-
16
-
-
0027474269
-
Uniparental disomy for chromosome 16 in humans
-
Kalousek DK, Langlois L, Barrett I, Yam I, Wilson DR, Howard-Peebles PN, Johnsom 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, L.2
Barrett, I.3
Yam, I.4
Wilson, D.R.5
Howard-Peebles, P.N.6
Johnsom, M.P.7
Giorgiutti, E.8
-
17
-
-
0024996869
-
Intrauterine growth retardation associated with chromosomal anueploidy confined to the placenta. Three observations: Triple trisomy 6,21,22; Trisomy 16 and Trisomy 18
-
Kennerknecht I, Terinde R (1990): Intrauterine growth retardation associated with chromosomal anueploidy confined to the placenta. Three observations: Triple trisomy 6,21,22; Trisomy 16 and Trisomy 18. Prenatal diagnosis 10:539-544.
-
(1990)
Prenatal Diagnosis
, vol.10
, pp. 539-544
-
-
Kennerknecht, I.1
Terinde, R.2
-
18
-
-
0028867372
-
Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7
-
Langlois S, Yong SL, Wilson RD, Kwong LC, Kalousek DK (1995): Prenatal and postnatal growth failure associated with maternal heterodisomy for chromosome 7. J Med Genet 32:871-5.
-
(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
-
19
-
-
0026080417
-
Uniparental pateral disomy in Angelman's syndrome
-
Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour JAL, Jeffrey AJ, Pembery M (1991): Uniparental pateral disomy in Angelman's syndrome. Lancet 337:694-697.
-
(1991)
Lancet
, vol.337
, pp. 694-697
-
-
Malcolm, S.1
Clayton-Smith, J.2
Nichols, M.3
Robb, S.4
Webb, T.5
Armour, J.A.L.6
Jeffrey, A.J.7
Pembery, M.8
-
20
-
-
0024440608
-
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome
-
Nichols ED, Knoll JHM, Butler MG, Karam S, Lalande M (1989): Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 342:281-285.
-
(1989)
Nature
, vol.342
, pp. 281-285
-
-
Nichols, E.D.1
Knoll, J.H.M.2
Butler, M.G.3
Karam, S.4
Lalande, M.5
-
21
-
-
0028057387
-
Maternal uniparental disomy 22 has no impact on the phenotype
-
Schinzel AA, Basaran S, Bernasconi F, Karaman B, Yuksel-Apak M, Robinson WP (1994): Maternal uniparental disomy 22 has no impact on the phenotype. Am J Hum Genet 54:21-4.
-
(1994)
Am J Hum Genet
, vol.54
, pp. 21-24
-
-
Schinzel, A.A.1
Basaran, S.2
Bernasconi, F.3
Karaman, B.4
Yuksel-Apak, M.5
Robinson, W.P.6
-
22
-
-
0026540405
-
Does confined placental mosaicism affect the fetus?
-
Simoni G, Fraccaro (1992): Does confined placental mosaicism affect the fetus? Human reproduction 7:139-140.
-
(1992)
Human Reproduction
, vol.7
, pp. 139-140
-
-
Simoni, G.1
Fraccaro2
-
23
-
-
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
-
24
-
-
0023897290
-
Uniparental disomy as a mechanism for human genetic diseases
-
Spence JE, Perciaccante RG, Greig GM, Willard HF, Ledbetter DH, Hejtmancik JF, Pollack MS, O'Brien WE, Bauset AL (1988): Uniparental disomy as a mechanism for human genetic diseases. Am J Med Genet 42:217-226.
-
(1988)
Am J Med Genet
, vol.42
, pp. 217-226
-
-
Spence, J.E.1
Perciaccante, R.G.2
Greig, G.M.3
Willard, H.F.4
Ledbetter, D.H.5
Hejtmancik, J.F.6
Pollack, M.S.7
O'Brien, W.E.8
Bauset, A.L.9
-
25
-
-
0026749549
-
Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus
-
Spotila LD, Sereda L, Prokop DJ (1992): Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus. Am J Med Genet 51:1396-1405.
-
(1992)
Am J Med Genet
, vol.51
, pp. 1396-1405
-
-
Spotila, L.D.1
Sereda, L.2
Prokop, D.J.3
-
27
-
-
0025866731
-
Maternal uniparental disomy for chromosome 14
-
Temple IK, Cockwell A, Hassold T Pettay D, Jacobs P (1991): Maternal uniparental disomy for chromosome 14. J Med Genet 28:511-14.
-
(1991)
J Med Genet
, vol.28
, pp. 511-514
-
-
Temple, I.K.1
Cockwell, A.2
Hassold, T.3
Pettay, D.4
Jacobs, P.5
-
28
-
-
0029243704
-
An imprinted gene for diabetes?
-
Temple IK, James RS, Crolla JA, Sitch FL, Jacobs PA, Howell WM, Betts P, Baum JD, Shield JPH (1995): An imprinted gene for diabetes? Nat Genetics 9:110-12.
-
(1995)
Nat Genetics
, 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
Baum, J.D.8
Shield, J.P.H.9
-
29
-
-
0025819444
-
Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 Robertsonian translocation carrier
-
Wang JCC, 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 48:1069-74.
-
(1991)
Am J Hum Genet
, vol.48
, pp. 1069-1074
-
-
Wang, J.C.C.1
Passage, M.B.2
Yen, P.H.3
Shapiro, L.J.4
Mohandas, T.K.5
-
30
-
-
0026446099
-
A second generation linkage map of the human genome
-
Weissenbach J, Gyapay G, Dib C, Vignal A, Morrissette J, Millasseau P Voysseix G, Lathrop M (1992). A second generation linkage map of the human genome. Nature 357:794-801.
-
(1992)
Nature
, vol.357
, pp. 794-801
-
-
Weissenbach, J.1
Gyapay, G.2
Dib, C.3
Vignal, A.4
Morrissette, J.5
Millasseau, P.6
Voysseix, G.7
Lathrop, M.8
-
31
-
-
0026534971
-
Apparent non-mosaic trisomy 16 in chrorionic villi: Diagnostic dilemma or clinically significant finding?
-
Williams J, Wang BBT, Tubin CH, Clark RD, Mohandas TK (1992): Apparent non-mosaic trisomy 16 in chrorionic villi: Diagnostic dilemma or clinically significant finding? Prenatal Diagnosis 12:162-168.
-
(1992)
Prenatal Diagnosis
, vol.12
, pp. 162-168
-
-
Williams, J.1
Wang, B.B.T.2
Tubin, C.H.3
Clark, R.D.4
Mohandas, T.K.5
-
32
-
-
0028290914
-
Confined placental mosaicism, IUGR and adverse pregnancy outcome: A controlled retrospective UK collaborative study
-
Wolstenholme J, Rooney DE, Davison EV (1994): Confined placental mosaicism, IUGR and adverse pregnancy outcome: a controlled retrospective UK collaborative study. Prenatal Diagnosis 14:345-361.
-
(1994)
Prenatal Diagnosis
, vol.14
, pp. 345-361
-
-
Wolstenholme, J.1
Rooney, D.E.2
Davison, E.V.3
-
33
-
-
0028064649
-
Bloom syndrome and maternal disomy for chromosome 15
-
Woodage T, Prasad M, Dixon JW, Selby RE, Romain DR, Columbano-Green LM, Graham D, Rogan PK, Seip DR, Smith A, Trent R (1994): Bloom syndrome and maternal disomy for chromosome 15. Am J Hum Genet 55:74-80.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 74-80
-
-
Woodage, T.1
Prasad, M.2
Dixon, J.W.3
Selby, R.E.4
Romain, D.R.5
Columbano-Green, L.M.6
Graham, D.7
Rogan, P.K.8
Seip, D.R.9
Smith, A.10
Trent, R.11
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