Whelan DT - Search Results

1

Maternal uniparental isodisomy of human chromosome 14 associated with a paternal t(13q14q) and precocious puberty.

Tomkins DJ, Roux AF, Waye J, Freeman VC, Cox DW, Whelan DT. Tomkins DJ, et al. Among authors: whelan dt. Eur J Hum Genet. 1996;4(3):153-9. doi: 10.1159/000472189. Eur J Hum Genet. 1996. PMID: 8840115

2

Boy with 47,XXY,del(15)(q11.2q13) karyotype and Prader-Willi syndrome: a new case and review of the literature.

Nowaczyk MJ, Zeesman S, Kam A, Taylor SA, Carter RF, Whelan DT. Nowaczyk MJ, et al. Among authors: whelan dt. Am J Med Genet A. 2004 Feb 15;125A(1):73-6. doi: 10.1002/ajmg.a.20458. Am J Med Genet A. 2004. PMID: 14755470 Review.

3

Paternal transmission of fragile X syndrome.

Zeesman S, Zwaigenbaum L, Whelan DT, Hagerman RJ, Tassone F, Taylor SA. Zeesman S, et al. Among authors: whelan dt. Am J Med Genet A. 2004 Aug 30;129A(2):184-9. doi: 10.1002/ajmg.a.30191. Am J Med Genet A. 2004. PMID: 15316964

4

Paternal transmission of the congenital form of myotonic dystrophy type 1: a new case and review of the literature.

Zeesman S, Carson N, Whelan DT. Zeesman S, et al. Among authors: whelan dt. Am J Med Genet. 2002 Jan 22;107(3):222-6. doi: 10.1002/ajmg.10141. Am J Med Genet. 2002. PMID: 11807903 Review.

5

Oral-facial-digital syndrome VII is oral-facial-digital syndrome I: a clarification.

Nowaczyk MJ, Zeesman S, Whelan DT, Wright V, Feather SA. Nowaczyk MJ, et al. Among authors: whelan dt. Am J Med Genet A. 2003 Dec 1;123A(2):179-82. doi: 10.1002/ajmg.a.20215. Am J Med Genet A. 2003. PMID: 14598343

6

Fryns syndrome: a rare familial cause of congenital diaphragmatic hernia.

Langer JC, Winthrop AL, Whelan D. Langer JC, et al. J Pediatr Surg. 1994 Sep;29(9):1266-7. doi: 10.1016/0022-3468(94)90820-6. J Pediatr Surg. 1994. PMID: 7807364

7

Incidence of Smith-Lemli-Opitz syndrome in Ontario, Canada.

Nowaczyk MJ, McCaughey D, Whelan DT, Porter FD. Nowaczyk MJ, et al. Among authors: whelan dt. Am J Med Genet. 2001 Jul 22;102(1):18-20. doi: 10.1002/1096-8628(20010722)102:1<18::aid-ajmg1376>3.0.co;2-e. Am J Med Genet. 2001. PMID: 11471166

8

Smith-Lemli-Opitz syndrome: phenotypic extreme with minimal clinical findings.

Nowaczyk MJ, Whelan DT, Hill RE. Nowaczyk MJ, et al. Among authors: whelan dt. Am J Med Genet. 1998 Aug 6;78(5):419-23. doi: 10.1002/(sici)1096-8628(19980806)78:5<419::aid-ajmg5>3.0.co;2-g. Am J Med Genet. 1998. PMID: 9714007

9

Risk reversals in predictive testing for Huntington disease.

Almqvist E, Adam S, Bloch M, Fuller A, Welch P, Eisenberg D, Whelan D, Macgregor D, Meschino W, Hayden MR. Almqvist E, et al. Am J Hum Genet. 1997 Oct;61(4):945-52. doi: 10.1086/514873. Am J Hum Genet. 1997. PMID: 9382108 Free PMC article.

10

Achondroplasia-hypochondroplasia complex in a newborn infant.

Huggins MJ, Smith JR, Chun K, Ray PN, Shah JK, Whelan DT. Huggins MJ, et al. Among authors: whelan dt. Am J Med Genet. 1999 Jun 11;84(5):396-400. Am J Med Genet. 1999. PMID: 10360392

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