-
1
-
-
0027955660
-
Natural history of trisomy 18 and trisomy 13. I: Growth, physical assessment, medical histories, survival, and recurrence risk
-
Baty BJ, Blackburn BL, Carey JC Natural history of trisomy 18 and trisomy 13. I: Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet 1994, 49:175-188.
-
(1994)
Am J Med Genet
, vol.49
, pp. 175-188
-
-
Baty, B.J.1
Blackburn, B.L.2
Carey, J.C.3
-
2
-
-
0029900006
-
Developmental genetics of the heart
-
Burn J, Goodship J Developmental genetics of the heart. Curr Opin Genet Dev 1996, 6:322-325.
-
(1996)
Curr Opin Genet Dev
, vol.6
, pp. 322-325
-
-
Burn, J.1
Goodship, J.2
-
3
-
-
0032918432
-
Cognitive functioning in children with typical cri du chat (5p-) syndrome
-
Cornish KM, Bramble D, Munir F, Pigram J Cognitive functioning in children with typical cri du chat (5p-) syndrome. Dev Med Child Neurol 1999, 41:263-266.
-
(1999)
Dev Med Child Neurol
, vol.41
, pp. 263-266
-
-
Cornish, K.M.1
Bramble, D.2
Munir, F.3
Pigram, J.4
-
4
-
-
0035487212
-
Segmental duplications: An "expanding" role in genomic instability and disease
-
Emanuel BS, Shaikh TH Segmental duplications: An "expanding" role in genomic instability and disease. Nat Rev Genet 2001, 2:791-800.
-
(2001)
Nat Rev Genet
, vol.2
, pp. 791-800
-
-
Emanuel, B.S.1
Shaikh, T.H.2
-
5
-
-
0035224560
-
The 22q11.2 deletion syndrome
-
Emanuel BS, McDonald-McGinn D, Saitta SC, Zackai EH The 22q11.2 deletion syndrome. Adv Pediatr 2001, 48:39-73.
-
(2001)
Adv Pediatr
, vol.48
, pp. 39-73
-
-
Emanuel, B.S.1
McDonald-McGinn, D.2
Saitta, S.C.3
Zackai, E.H.4
-
6
-
-
0000089059
-
Down syndrome (trisomy 21).
-
McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.)
-
Epstein CJ Down syndrome (trisomy 21). The Metabolic and Molecular Bases of Inherited Disease 2001, 1223-1256. McGraw-Hill, New York. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1223-1256
-
-
Epstein, C.J.1
-
7
-
-
0035404627
-
Characterisation of the somatic evolution of Portuguese children with Trisomy 21-preliminary results
-
Fernandes A, Mourato AP, Xavier MJ, et al. Characterisation of the somatic evolution of Portuguese children with Trisomy 21-preliminary results. Downs Syndr Res Pract 2001, 6:134-138.
-
(2001)
Downs Syndr Res Pract
, vol.6
, pp. 134-138
-
-
Fernandes, A.1
Mourato, A.P.2
Xavier, M.J.3
-
8
-
-
0023200187
-
Down's syndrome and leukemia: Epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis
-
Fong CT, Brodeur GM Down's syndrome and leukemia: Epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis. Cancer Genet Cytogenet 1987, 28:55-76.
-
(1987)
Cancer Genet Cytogenet
, vol.28
, pp. 55-76
-
-
Fong, C.T.1
Brodeur, G.M.2
-
9
-
-
0026739108
-
Ultrasound and fetal chromosome abnormalities
-
Hook EB Ultrasound and fetal chromosome abnormalities. Lancet 1992, 340:1109-1113.
-
(1992)
Lancet
, vol.340
, pp. 1109-1113
-
-
Hook, E.B.1
-
10
-
-
0020412203
-
Paternal age and Down's syndrome genotypes diagnosed prenatally: No association in New York state data
-
Hook EB, Cross PK Paternal age and Down's syndrome genotypes diagnosed prenatally: No association in New York state data. Hum Genet 1982, 62:167-174.
-
(1982)
Hum Genet
, vol.62
, pp. 167-174
-
-
Hook, E.B.1
Cross, P.K.2
-
13
-
-
0037315253
-
2002 Curt Stern Award Address: Genomic disorders: Recombination-based disease resulting from genomic architecture
-
Lupski JR 2002 Curt Stern Award Address: Genomic disorders: Recombination-based disease resulting from genomic architecture. Am J Hum Genet 2003, 72:246-252.
-
(2003)
Am J Hum Genet
, vol.72
, pp. 246-252
-
-
Lupski, J.R.1
-
14
-
-
0028030585
-
The origin of 47,XXY and 47,XXX aneuploidy: Heterogeneous mechanisms and role of aberrant recombination
-
MacDonald M, Hassold T, Harvey J, et al. The origin of 47,XXY and 47,XXX aneuploidy: Heterogeneous mechanisms and role of aberrant recombination. Hum Mol Genet 1994, 3:1365-1371.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1365-1371
-
-
MacDonald, M.1
Hassold, T.2
Harvey, J.3
-
15
-
-
0031291657
-
The 22q11.2 deletion: Screening, diagnostic workup, and outcome of results: Report on 181 patients
-
McDonald-McGinn DM, LaRossa D, Goldmuntz E, et al. The 22q11.2 deletion: Screening, diagnostic workup, and outcome of results: Report on 181 patients. Genet Test 1997, 1:99-108.
-
(1997)
Genet Test
, vol.1
, pp. 99-108
-
-
McDonald-McGinn, D.M.1
LaRossa, D.2
Goldmuntz, E.3
-
16
-
-
0035865087
-
A physical map of the human genome
-
McPherson JD, Marra M, Hillier L, et al. A physical map of the human genome. Nature 2001, 409:934-941.
-
(2001)
Nature
, vol.409
, pp. 934-941
-
-
McPherson, J.D.1
Marra, M.2
Hillier, L.3
-
18
-
-
0024440608
-
Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome
-
Nicholls RD, Knoll JH, Butler MG, et al. Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 1989, 342:281-285.
-
(1989)
Nature
, vol.342
, pp. 281-285
-
-
Nicholls, R.D.1
Knoll, J.H.2
Butler, M.G.3
-
19
-
-
0003928850
-
-
WB Saunders, Philadelphia, R.L. Nussbaum, R.R. McInnes, H.F. Willard (Eds.)
-
Thompson and Thompson's Genetics in Medicine 2001, WB Saunders, Philadelphia. 6th ed. R.L. Nussbaum, R.R. McInnes, H.F. Willard (Eds.).
-
(2001)
Thompson and Thompson's Genetics in Medicine
-
-
-
20
-
-
84882517125
-
-
OMIM
-
OMIM. Available online at http://www3.ncbi.nlm.nih.gov/entrez/query.fcgi?db=omim.
-
-
-
-
22
-
-
0003914823
-
-
Churchill Livingstone, New York, D.L. Rimoin, J.M. Connor, R.E. Pyeritz (Eds.)
-
Emery and Rimoin's Principles and Practice of Medical Genetics 1996, Churchill Livingstone, New York. 3rd ed. D.L. Rimoin, J.M. Connor, R.E. Pyeritz (Eds.).
-
(1996)
Emery and Rimoin's Principles and Practice of Medical Genetics
-
-
-
23
-
-
0027509280
-
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism
-
Rinchik EM, Bultman SJ, Horsthemke B, et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature 1993, 361:72-76.
-
(1993)
Nature
, vol.361
, pp. 72-76
-
-
Rinchik, E.M.1
Bultman, S.J.2
Horsthemke, B.3
-
25
-
-
0002817593
-
Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance.
-
McGraw-Hill, New York, C.R. Scriver, Beaudetal, W.S. Sly, D. Valle (Eds.)
-
Shaffer LG, Ledbetter DH, Lupski JR Molecular cytogenetics of contiguous gene syndromes: Mechanisms and consequences of gene dosage imbalance. The Metabolic and Molecular Bases of Inherited Disease 2001, 1291-1324. McGraw-Hill, New York. 8th ed. C.R. Scriver, Beaudetal, W.S. Sly, D. Valle (Eds.).
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1291-1324
-
-
Shaffer, L.G.1
Ledbetter, D.H.2
Lupski, J.R.3
-
26
-
-
0002403834
-
The sex chromosomes and X chromosome inactivation.
-
McGraw-Hill, New York, C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.)
-
Willard HF The sex chromosomes and X chromosome inactivation. The Metabolic and Molecular Bases of Inherited Disease 2001, 1191-1211. McGraw-Hill, New York. 8th ed. C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.).
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 1191-1211
-
-
Willard, H.F.1
-
27
-
-
0027937004
-
Nondisjunction of human acrocentric chromosomes: Studies of 432 trisomic fetuses and liveborns
-
Zaragoza MV, Jacobs PA, James RS, et al. Nondisjunction of human acrocentric chromosomes: Studies of 432 trisomic fetuses and liveborns. Hum Genet 1994, 94:411-417.
-
(1994)
Hum Genet
, vol.94
, pp. 411-417
-
-
Zaragoza, M.V.1
Jacobs, P.A.2
James, R.S.3
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