Whelan D - Search Results

1

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. Among authors: whelan d. Am J Hum Genet. 1997 Oct;61(4):945-52. doi: 10.1086/514873. Am J Hum Genet. 1997. PMID: 9382108 Free PMC article.

2

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. Am J Med Genet. 2002 Jan 22;107(3):222-6. doi: 10.1002/ajmg.10141. Am J Med Genet. 2002. PMID: 11807903 Review.

3

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

4

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

5

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

6

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. 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

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

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. 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.

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

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

Nowaczyk MJ, Whelan D, Hill RE, Clarke JT, Pollitt RJ. Nowaczyk MJ, et al. Among authors: whelan d. 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.

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