Wassif CA - Search Results

1

Decreased cerebral spinal fluid neurotransmitter levels in Smith-Lemli-Opitz syndrome.

Sparks SE, Wassif CA, Goodwin H, Conley SK, Lanham DC, Kratz LE, Hyland K, Gropman A, Tierney E, Porter FD. Sparks SE, et al. Among authors: wassif ca. J Inherit Metab Dis. 2014 May;37(3):415-20. doi: 10.1007/s10545-013-9672-5. Epub 2014 Feb 6. J Inherit Metab Dis. 2014. PMID: 24500076 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. 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

A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome.

Battaile KP, Maslen CL, Wassif CA, Krakowiak P, Porter FD, Steiner RD. Battaile KP, et al. Among authors: wassif ca. Genet Test. 1999;3(4):361-3. doi: 10.1089/gte.1999.3.361. Genet Test. 1999. PMID: 10627944

4

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

5

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. Hum Mol Genet. 2001 Mar 15;10(6):555-64. doi: 10.1093/hmg/10.6.555. Hum Mol Genet. 2001. PMID: 11230174

6

Genetic disorders of cholesterol biosynthesis in mice and humans.

Nwokoro NA, Wassif CA, Porter FD. Nwokoro NA, et al. Among authors: wassif ca. Mol Genet Metab. 2001 Sep-Oct;74(1-2):105-19. doi: 10.1006/mgme.2001.3226. Mol Genet Metab. 2001. PMID: 11592808 Review.

7

Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts.

Wassif CA, Vied D, Tsokos M, Connor WE, Steiner RD, Porter FD. Wassif CA, et al. Mol Genet Metab. 2002 Apr;75(4):325-34. doi: 10.1016/S1096-7192(02)00010-0. Mol Genet Metab. 2002. PMID: 12051964

8

A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis.

Cooper MK, Wassif CA, Krakowiak PA, Taipale J, Gong R, Kelley RI, Porter FD, Beachy PA. Cooper MK, et al. Among authors: wassif ca. Nat Genet. 2003 Apr;33(4):508-13. doi: 10.1038/ng1134. Epub 2003 Mar 24. Nat Genet. 2003. PMID: 12652302

9

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: wassif ca. 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.

10

Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency.

Krakowiak PA, Wassif CA, Kratz L, Cozma D, Kovárová M, Harris G, Grinberg A, Yang Y, Hunter AG, Tsokos M, Kelley RI, Porter FD. Krakowiak PA, et al. Among authors: wassif ca. Hum Mol Genet. 2003 Jul 1;12(13):1631-41. doi: 10.1093/hmg/ddg172. Hum Mol Genet. 2003. PMID: 12812989

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