Porter FD - Search Results

1

Auditory phenotype of Smith-Lemli-Opitz syndrome.

Zalewski CK, Sydlowski SA, King KA, Bianconi S, Dang Do A, Porter FD, Brewer CC. Zalewski CK, et al. Among authors: porter fd. Am J Med Genet A. 2021 Apr;185(4):1131-1141. doi: 10.1002/ajmg.a.62087. Epub 2021 Feb 2. Am J Med Genet A. 2021. PMID: 33529473 Free PMC article.

2

Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.

Wassif CA, Maslen C, Kachilele-Linjewile S, Lin D, Linck LM, Connor WE, Steiner RD, Porter FD. Wassif CA, et al. Among authors: porter fd. Am J Hum Genet. 1998 Jul;63(1):55-62. doi: 10.1086/301936. Am J Hum Genet. 1998. PMID: 9634533 Free PMC article.

3

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: porter fd. Am J Med Genet. 2000 Sep 18;94(3):214-27. Am J Med Genet. 2000. PMID: 10995508

4

RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis.

Porter FD. Porter FD. Mol Genet Metab. 2000 Sep-Oct;71(1-2):163-74. doi: 10.1006/mgme.2000.3069. Mol Genet Metab. 2000. PMID: 11001807 Review.

5

Behavior phenotype in the RSH/Smith-Lemli-Opitz syndrome.

Tierney E, Nwokoro NA, Porter FD, Freund LS, Ghuman JK, Kelley RI. Tierney E, et al. Among authors: porter fd. Am J Med Genet. 2001 Jan 15;98(2):191-200. doi: 10.1002/1096-8628(20010115)98:2<191::aid-ajmg1030>3.0.co;2-m. Am J Med Genet. 2001. PMID: 11223857

6

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.

Wassif CA, Zhu P, Kratz L, Krakowiak PA, Battaile KP, Weight FF, Grinberg A, Steiner RD, Nwokoro NA, Kelley RI, Stewart RR, Porter FD. Wassif CA, et al. Among authors: porter fd. Hum Mol Genet. 2001 Mar 15;10(6):555-64. doi: 10.1093/hmg/10.6.555. Hum Mol Genet. 2001. PMID: 11230174

7

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

Nowaczyk MJ, McCaughey D, Whelan DT, Porter FD. Nowaczyk MJ, et al. Among authors: porter fd. 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

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

9

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: porter fd. 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

10

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. Among authors: porter fd. Am J Med Genet. 2001 Oct 15;103(3):223-5. doi: 10.1002/ajmg.1545.abs. Am J Med Genet. 2001. PMID: 11745994

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