Nowaczyk MJ - Search Results

1

Smith-Lemli-Opitz syndrome: Objective assessment of facial phenotype.

Nowaczyk MJ, Tan M, Hamid JS, Allanson JE. Nowaczyk MJ, et al. Am J Med Genet A. 2012 May;158A(5):1020-8. doi: 10.1002/ajmg.a.35285. Epub 2012 Mar 21. Am J Med Genet A. 2012. PMID: 22438180

2

Normal IQ is possible in Smith-Lemli-Opitz syndrome.

Eroglu Y, Nguyen-Driver M, Steiner RD, Merkens L, Merkens M, Roullet JB, Elias E, Sarphare G, Porter FD, Li C, Tierney E, Nowaczyk MJ, Freeman KA. Eroglu Y, et al. Among authors: nowaczyk mj. Am J Med Genet A. 2017 Aug;173(8):2097-2100. doi: 10.1002/ajmg.a.38125. Epub 2017 Mar 27. Am J Med Genet A. 2017. PMID: 28349652 Free PMC article.

3

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.

4

Smith-Lemli-Opitz syndrome and other disorders of cholesterol biosynthesis: An introduction.

Nowaczyk MJ, Cunniff C. Nowaczyk MJ, et al. Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):239-41. doi: 10.1002/ajmg.c.31344. Epub 2012 Oct 5. Am J Med Genet C Semin Med Genet. 2012. PMID: 23042602

5

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

6

Adrenal insufficiency and hypertension in a newborn infant with Smith-Lemli-Opitz syndrome.

Nowaczyk MJ, Siu VM, Krakowiak PA, Porter FD. Nowaczyk MJ, et al. Am J Med Genet. 2001 Oct 15;103(3):223-5. doi: 10.1002/ajmg.1545.abs. Am J Med Genet. 2001. PMID: 11745994

7

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

8

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome.

Hood RL, Lines MA, Nikkel SM, Schwartzentruber J, Beaulieu C, Nowaczyk MJ, Allanson J, Kim CA, Wieczorek D, Moilanen JS, Lacombe D, Gillessen-Kaesbach G, Whiteford ML, Quaio CR, Gomy I, Bertola DR, Albrecht B, Platzer K, McGillivray G, Zou R, McLeod DR, Chudley AE, Chodirker BN, Marcadier J; FORGE Canada Consortium; Majewski J, Bulman DE, White SM, Boycott KM. Hood RL, et al. Among authors: nowaczyk mj. Am J Hum Genet. 2012 Feb 10;90(2):308-13. doi: 10.1016/j.ajhg.2011.12.001. Epub 2012 Jan 19. Am J Hum Genet. 2012. PMID: 22265015 Free PMC article.

9

Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology.

Nowaczyk MJ, Irons MB. Nowaczyk MJ, et al. Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):250-62. doi: 10.1002/ajmg.c.31343. Epub 2012 Oct 11. Am J Med Genet C Semin Med Genet. 2012. PMID: 23059950 Review.

10

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

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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

130 results

Search Page