Nowaczyk MJ - Search Results

1

Fetus with renal agenesis and Smith-Lemli-Opitz syndrome.

Nowaczyk MJ, Eng B, Waye JS, Farrell SA, Sirkin WL. Nowaczyk MJ, et al. Am J Med Genet A. 2003 Jul 15;120A(2):305-7. doi: 10.1002/ajmg.a.20004. Am J Med Genet A. 2003. PMID: 12833423 No abstract available.

2

Smith-Lemli-Opitz syndrome: new mutation with a mild phenotype.

Prasad C, Marles S, Prasad AN, Nikkel S, Longstaffe S, Peabody D, Eng B, Wright S, Waye JS, Nowaczyk MJ. Prasad C, et al. Among authors: nowaczyk mj. Am J Med Genet. 2002 Feb 15;108(1):64-8. doi: 10.1002/ajmg.10211. Am J Med Genet. 2002. PMID: 11857552

3

Carrier frequency of the RSH/Smith-Lemli-Opitz IVS8-1G>C mutation in African Americans.

Wright BS, Nwokoro NA, Wassif CA, Porter FD, Waye JS, Eng B, Nowaczyk MJ. Wright BS, et al. Among authors: nowaczyk mj. Am J Med Genet A. 2003 Jul 1;120A(1):139-41. doi: 10.1002/ajmg.a.10207. Am J Med Genet A. 2003. PMID: 12794707 No abstract available.

4

DHCR7 mutation carrier rates and prevalence of the RSH/Smith-Lemli-Opitz syndrome: where are the patients?

Nowaczyk MJ, Waye JS, Douketis JD. Nowaczyk MJ, et al. Am J Med Genet A. 2006 Oct 1;140(19):2057-62. doi: 10.1002/ajmg.a.31413. Am J Med Genet A. 2006. PMID: 16906538 Review.

5

Rapid molecular prenatal diagnosis of Smith-Lemli-Opitz syndrome.

Nowaczyk MJ, Garcia DM, Eng B, Waye JS. Nowaczyk MJ, et al. Am J Med Genet. 2001 Sep 1;102(4):387-8. doi: 10.1002/ajmg.1503. Am J Med Genet. 2001. PMID: 11503169 No abstract available.

6

Smith-Lemli-Opitz (RHS) syndrome: holoprosencephaly and homozygous IVS8-1G-->C genotype.

Nowaczyk MJ, Farrell SA, Sirkin WL, Velsher L, Krakowiak PA, Waye JS, Porter FD. Nowaczyk MJ, et al. Am J Med Genet. 2001 Sep 15;103(1):75-80. doi: 10.1002/1096-8628(20010915)103:1<75::aid-ajmg1502>3.0.co;2-r. Am J Med Genet. 2001. PMID: 11562938

7

Smith-Lemli-Opitz syndrome: carrier frequency and spectrum of DHCR7 mutations in Canada.

Waye JS, Nakamura LM, Eng B, Hunnisett L, Chitayat D, Costa T, Nowaczyk MJ. Waye JS, et al. Among authors: nowaczyk mj. J Med Genet. 2002 Jun;39(6):E31. doi: 10.1136/jmg.39.6.e31. J Med Genet. 2002. PMID: 12070263 Free PMC article. No abstract available.

8

DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.

Ciara E, Nowaczyk MJ, Witsch-Baumgartner M, Malunowicz E, Popowska E, Jezela-Stanek A, Piotrowicz M, Waye JS, Utermann G, Krajewska-Walasek M. Ciara E, et al. Among authors: nowaczyk mj. Clin Genet. 2004 Dec;66(6):517-24. doi: 10.1111/j.1399-0004.2004.00350.x. Clin Genet. 2004. PMID: 15521979

9

DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.

Correa-Cerro LS, Wassif CA, Waye JS, Krakowiak PA, Cozma D, Dobson NR, Levin SW, Anadiotis G, Steiner RD, Krajewska-Walasek M, Nowaczyk MJ, Porter FD. Correa-Cerro LS, et al. Among authors: nowaczyk mj. J Med Genet. 2005 Apr;42(4):350-7. doi: 10.1136/jmg.2004.022749. J Med Genet. 2005. PMID: 15805162 Free PMC article. No abstract available.

10

Founder effect for the T93M DHCR7 mutation in Smith-Lemli-Opitz syndrome.

Nowaczyk MJ, Martin-Garcia D, Aquino-Perna A, Rodriguez-Vazquez M, McCaughey D, Eng B, Nakamura LM, Waye JS. Nowaczyk MJ, et al. Am J Med Genet A. 2004 Mar 1;125A(2):173-6. doi: 10.1002/ajmg.a.20676. Am J Med Genet A. 2004. PMID: 14981719

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