Weil D - Search Results

1

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. Nat Genet. 1997 Jun;16(2):191-3. doi: 10.1038/ng0697-191. Nat Genet. 1997. PMID: 9171833

2

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. 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.

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: weil d. Hum Mol Genet. 1997 Jan;6(1):111-6. doi: 10.1093/hmg/6.1.111. Hum Mol Genet. 1997. PMID: 9002678

4

A specific promoter of the sensory cells of the inner ear defined by transgenesis.

Boëda B, Weil D, Petit C. Boëda B, et al. Among authors: weil d. Hum Mol Genet. 2001 Jul 15;10(15):1581-9. doi: 10.1093/hmg/10.15.1581. Hum Mol Genet. 2001. PMID: 11468276

5

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. Nature. 1995 Mar 2;374(6517):60-1. doi: 10.1038/374060a0. Nature. 1995. PMID: 7870171

6

DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34.

Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Mégarbané A, Loiselet J, Weil D, Lathrop M, Petit C. Mustapha M, et al. Among authors: weil d. Eur J Hum Genet. 2002 Mar;10(3):210-2. doi: 10.1038/sj.ejhg.5200780. Eur J Hum Genet. 2002. PMID: 11973626

7

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.

Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Lainé S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C. Weil D, et al. Hum Mol Genet. 2003 Mar 1;12(5):463-71. doi: 10.1093/hmg/ddg051. Hum Mol Genet. 2003. PMID: 12588794

8

Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1.

Masmoudi S, Tlili A, Majava M, Ghorbel AM, Chardenoux S, Lemainque A, Zina ZB, Moala J, Männikkö M, Weil D, Lathrop M, Ala-Kokko L, Drira M, Petit C, Ayadi H. Masmoudi S, et al. Among authors: weil d. Eur J Hum Genet. 2003 Feb;11(2):185-8. doi: 10.1038/sj.ejhg.5200934. Eur J Hum Genet. 2003. PMID: 12634867

9

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: weil d. Nat Genet. 2003 Aug;34(4):421-8. doi: 10.1038/ng1208. Nat Genet. 2003. PMID: 12833159

10

Interactions in the network of Usher syndrome type 1 proteins.

Adato A, Michel V, Kikkawa Y, Reiners J, Alagramam KN, Weil D, Yonekawa H, Wolfrum U, El-Amraoui A, Petit C. Adato A, et al. Among authors: weil d. Hum Mol Genet. 2005 Feb 1;14(3):347-56. doi: 10.1093/hmg/ddi031. Epub 2004 Dec 8. Hum Mol Genet. 2005. PMID: 15590703

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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

364 results

Search Page

Filters