Nowaczyk MJ - Search Results

1

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.

Nowaczyk MJ, Waye JS. Nowaczyk MJ, et al. Clin Genet. 2001 Jun;59(6):375-86. doi: 10.1034/j.1399-0004.2001.590601.x. Clin Genet. 2001. PMID: 11453964 Review.

2

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

Nowaczyk MJ, Whelan DT, Hill RE. Nowaczyk MJ, et al. 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

3

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. CMAJ. 1999 Jul 27;161(2):165-70. CMAJ. 1999. PMID: 10439827 Free PMC article. Review.

4

Holoprosencephaly, sacral anomalies, and situs ambiguus in an infant with partial monosomy 7q/trisomy 2p and SHH and HLXB9 haploinsufficiency.

Nowaczyk MJ, Huggins MJ, Tomkins DJ, Rossi E, Ramsay JA, Woulfe J, Scherer SW, Belloni E. Nowaczyk MJ, et al. Clin Genet. 2000 May;57(5):388-93. doi: 10.1034/j.1399-0004.2000.570510.x. Clin Genet. 2000. PMID: 10852374

5

Anesthetic considerations in Smith-Lemli-Opitz syndrome.

Choi PT, Nowaczyk MJ. Choi PT, et al. Among authors: nowaczyk mj. Can J Anaesth. 2000 Jun;47(6):556-61. doi: 10.1007/BF03018947. Can J Anaesth. 2000. PMID: 10875719

6

Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.

Krakowiak PA, Nwokoro NA, Wassif CA, Battaile KP, Nowaczyk MJ, Connor WE, Maslen C, Steiner RD, Porter FD. Krakowiak PA, et al. Among authors: nowaczyk mj. Am J Med Genet. 2000 Sep 18;94(3):214-27. Am J Med Genet. 2000. PMID: 10995508

7

Difficult prenatal diagnosis in mild Smith-Lemli-Opitz syndrome.

Nowaczyk MJ, Heshka T, Kratz LE, Kelley RE. Nowaczyk MJ, et al. Am J Med Genet. 2000 Dec 11;95(4):396-8. Am J Med Genet. 2000. PMID: 11186897

8

DHCR7 genotypes of cousins with Smith-Lemli-Opitz syndrome.

Nowaczyk MJ, Heshka T, Eng B, Feigenbaum AJ, Waye JS. Nowaczyk MJ, et al. Am J Med Genet. 2001 Apr 22;100(2):162-3. doi: 10.1002/ajmg.1227. Am J Med Genet. 2001. PMID: 11298379

9

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

Nowaczyk MJ, McCaughey D, Whelan DT, Porter FD. Nowaczyk MJ, et al. 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

10

Frequency and ethnic distribution of the common DHCR7 mutation in Smith-Lemli-Opitz syndrome.

Nowaczyk MJ, Nakamura LM, Eng B, Porter FD, Waye JS. Nowaczyk MJ, et al. Am J Med Genet. 2001 Sep 1;102(4):383-6. doi: 10.1002/ajmg.1441. Am J Med Genet. 2001. PMID: 11503168

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