Whelan DT - Search Results

1

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

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

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

4

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

5

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.

6

Pregnancy in a healthy woman with untreated citrullinemia.

Potter MA, Zeesman S, Brennan B, Kobayashi K, Gao HZ, Tabata A, Saheki T, Whelan DT. Potter MA, et al. Among authors: whelan dt. Am J Med Genet A. 2004 Aug 15;129A(1):77-82. doi: 10.1002/ajmg.a.20559. Am J Med Genet A. 2004. PMID: 15266621

7

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

8

Long-chain hydroxydicarboxylic aciduria, carnitine depletion and acetaminophen exposure.

Nowaczyk MJ, Whelan D, Hill RE, Clarke JT, Pollitt RJ. Nowaczyk MJ, et al. J Inherit Metab Dis. 2000 Mar;23(2):188-9. doi: 10.1023/a:1005630218986. J Inherit Metab Dis. 2000. PMID: 10801061 No abstract available.

9

Smith-Lemli-Opitz syndrome: a treatable inherited error of metabolism causing mental retardation.

Nowaczyk MJ, Whelan DT, Heshka TW, Hill RE. Nowaczyk MJ, et al. Among authors: whelan dt. CMAJ. 1999 Jul 27;161(2):165-70. CMAJ. 1999. PMID: 10439827 Free PMC article. Review.

10

Parents of children with spinal muscular atrophy are not obligate carriers: carrier testing is important for reproductive decision-making.

Zeesman S, Whelan DT, Carson N, McGowan-Jordan J, Stockley TL, Ray PN, Prior TW. Zeesman S, et al. Among authors: whelan dt. Am J Med Genet. 2002 Jan 22;107(3):247-9. doi: 10.1002/ajmg.10132. Am J Med Genet. 2002. PMID: 11807908 No abstract available.

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