Blanchard S - Search Results

1

Defective myosin VIIA gene responsible for Usher syndrome type 1B.

Weil D, Blanchard S, Kaplan J, Guilford P, Gibson F, Walsh J, Mburu P, Varela A, Levilliers J, Weston MD, et al. Weil D, et al. Among authors: blanchard s. Nature. 1995 Mar 2;374(6517):60-1. doi: 10.1038/374060a0. Nature. 1995. PMID: 7870171

2

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, Petit C. Guilford P, et al. Among authors: blanchard s. Nat Genet. 1994 Jan;6(1):24-8. doi: 10.1038/ng0194-24. Nat Genet. 1994. PMID: 8136828

3

Myosin VIIA gene: heterogeneity of the mutations responsible for Usher syndrome type IB.

Lévy G, Levi-Acobas F, Blanchard S, Gerber S, Larget-Piet D, Chenal V, Liu XZ, Newton V, Steel KP, Brown SD, Munnich A, Kaplan J, Petit C, Weil D. Lévy G, et al. Among authors: blanchard s. Hum Mol Genet. 1997 Jan;6(1):111-6. doi: 10.1093/hmg/6.1.111. Hum Mol Genet. 1997. PMID: 9002678

4

The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.

Weil D, Küssel P, Blanchard S, Lévy G, Levi-Acobas F, Drira M, Ayadi H, Petit C. Weil D, et al. Among authors: blanchard s. Nat Genet. 1997 Jun;16(2):191-3. doi: 10.1038/ng0697-191. Nat Genet. 1997. PMID: 9171833

5

Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31.

Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD. Mburu P, et al. Among authors: blanchard s. Nat Genet. 2003 Aug;34(4):421-8. doi: 10.1038/ng1208. Nat Genet. 2003. PMID: 12833159

6

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.

Guilford P, Ayadi H, Blanchard S, Chaib H, Le Paslier D, Weissenbach J, Drira M, Petit C. Guilford P, et al. Among authors: blanchard s. Hum Mol Genet. 1994 Jun;3(6):989-93. doi: 10.1093/hmg/3.6.989. Hum Mol Genet. 1994. PMID: 7951250

7

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

Hardelin JP, Levilliers J, Blanchard S, Carel JC, Leutenegger M, Pinard-Bertelletto JP, Bouloux P, Petit C. Hardelin JP, et al. Among authors: blanchard s. Hum Mol Genet. 1993 Apr;2(4):373-7. doi: 10.1093/hmg/2.4.373. Hum Mol Genet. 1993. PMID: 8504298

8

A YAC contig and an EST map in the pericentromeric region of chromosome 13 surrounding the loci for neurosensory nonsyndromic deafness (DFNB1 and DFNA3) and limb-girdle muscular dystrophy type 2C (LGMD2C).

Guilford P, Dodé C, Crozet F, Blanchard S, Chaïb H, Levilliers J, Levi-Acobas F, Weil D, Weissenbach J, Cohen D, et al. Guilford P, et al. Among authors: blanchard s. Genomics. 1995 Sep 1;29(1):163-9. doi: 10.1006/geno.1995.1227. Genomics. 1995. PMID: 8530067

9

Human myosin VIIA responsible for the Usher 1B syndrome: a predicted membrane-associated motor protein expressed in developing sensory epithelia.

Weil D, Levy G, Sahly I, Levi-Acobas F, Blanchard S, El-Amraoui A, Crozet F, Philippe H, Abitbol M, Petit C. Weil D, et al. Among authors: blanchard s. Proc Natl Acad Sci U S A. 1996 Apr 16;93(8):3232-7. doi: 10.1073/pnas.93.8.3232. Proc Natl Acad Sci U S A. 1996. PMID: 8622919 Free PMC article.

10

X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.

Hardelin JP, Levilliers J, del Castillo I, Cohen-Salmon M, Legouis R, Blanchard S, Compain S, Bouloux P, Kirk J, Moraine C, et al. Hardelin JP, et al. Among authors: blanchard s. Proc Natl Acad Sci U S A. 1992 Sep 1;89(17):8190-4. doi: 10.1073/pnas.89.17.8190. Proc Natl Acad Sci U S A. 1992. PMID: 1518845 Free PMC article.

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