Waye JS - Search Results

1

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: waye js. 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.

2

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. Among authors: waye js. 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.

3

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

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

4

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. Among authors: waye js. Am J Med Genet. 2001 Sep 1;102(4):383-6. doi: 10.1002/ajmg.1441. Am J Med Genet. 2001. PMID: 11503168

5

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. Among authors: waye js. 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

6

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. Among authors: waye js. 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

7

Identification of nine novel DHCR7 missense mutations in patients with Smith-Lemli-Opitz syndrome (SLOS).

Waye JS, Krakowiak PA, Wassif CA, Sterner AL, Eng B, Nakamura LM, Nowaczyk MJ, Porter FD. Waye JS, et al. Hum Mutat. 2005 Jul;26(1):59. doi: 10.1002/humu.9346. Hum Mutat. 2005. PMID: 15954111

8

Prenatal diagnosis of Smith-Lemli-Opitz syndrome (SLOS) by DHCR7 mutation analysis.

Waye JS, Eng B, Nowaczyk MJ. Waye JS, et al. Prenat Diagn. 2007 Jul;27(7):638-40. doi: 10.1002/pd.1735. Prenat Diagn. 2007. PMID: 17441222

9

De novo mutation of the DHCR7 gene in a fetus with severe Smith-Lemli-Opitz (or RSH) syndrome.

Waye JS, Eng B, Potter MA, Nowaczyk MJ, McFadden D, Langlois S. Waye JS, et al. Am J Med Genet A. 2007 Aug 1;143A(15):1799-801. doi: 10.1002/ajmg.a.31802. Am J Med Genet A. 2007. PMID: 17595012 No abstract available.

10

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: waye js. Am J Med Genet. 2002 Feb 15;108(1):64-8. doi: 10.1002/ajmg.10211. Am J Med Genet. 2002. PMID: 11857552

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

191 results

Search Page

Filters