Wassif CA - Search Results

1

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

2

Lhx2, a LIM homeobox gene, is required for eye, forebrain, and definitive erythrocyte development.

Porter FD, Drago J, Xu Y, Cheema SS, Wassif C, Huang SP, Lee E, Grinberg A, Massalas JS, Bodine D, Alt F, Westphal H. Porter FD, et al. Development. 1997 Aug;124(15):2935-44. doi: 10.1242/dev.124.15.2935. Development. 1997. PMID: 9247336

3

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.

4

Characterization of Lhx9, a novel LIM/homeobox gene expressed by the pioneer neurons in the mouse cerebral cortex.

Bertuzzi S, Porter FD, Pitts A, Kumar M, Agulnick A, Wassif C, Westphal H. Bertuzzi S, et al. Mech Dev. 1999 Mar;81(1-2):193-8. doi: 10.1016/s0925-4773(98)00233-0. Mech Dev. 1999. PMID: 10330499 Free article.

5

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

6

The LIM homeobox gene Lhx9 is essential for mouse gonad formation.

Birk OS, Casiano DE, Wassif CA, Cogliati T, Zhao L, Zhao Y, Grinberg A, Huang S, Kreidberg JA, Parker KL, Porter FD, Westphal H. Birk OS, et al. Among authors: wassif ca. Nature. 2000 Feb 24;403(6772):909-13. doi: 10.1038/35002622. Nature. 2000. PMID: 10706291

7

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

8

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.

9

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

10

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

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