Weil D - Search Results

1

Mutation profile of all 49 exons of the human myosin VIIA gene, and haplotype analysis, in Usher 1B families from diverse origins.

Adato A, Weil D, Kalinski H, Pel-Or Y, Ayadi H, Petit C, Korostishevsky M, Bonne-Tamir B. Adato A, et al. Among authors: weil d. Am J Hum Genet. 1997 Oct;61(4):813-21. doi: 10.1086/514899. Am J Hum Genet. 1997. PMID: 9382091 Free PMC article.

2

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

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

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

5

Possible interaction between USH1B and USH3 gene products as implied by apparent digenic deafness inheritance.

Adato A, Kalinski H, Weil D, Chaib H, Korostishevsky M, Bonne-Tamir B. Adato A, et al. Among authors: weil d. Am J Hum Genet. 1999 Jul;65(1):261-5. doi: 10.1086/302438. Am J Hum Genet. 1999. PMID: 10364543 Free PMC article. No abstract available.

6

A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.

Mustapha M, Chouery E, Torchard-Pagnez D, Nouaille S, Khrais A, Sayegh FN, Mégarbané A, Loiselet J, Lathrop M, Petit C, Weil D. Mustapha M, et al. Among authors: weil d. Hum Genet. 2002 Apr;110(4):348-50. doi: 10.1007/s00439-002-0690-x. Epub 2002 Mar 12. Hum Genet. 2002. PMID: 11941484

7

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

8

Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome.

Hoskins BE, Cramer CH, Silvius D, Zou D, Raymond RM, Orten DJ, Kimberling WJ, Smith RJ, Weil D, Petit C, Otto EA, Xu PX, Hildebrandt F. Hoskins BE, et al. Among authors: weil d. Am J Hum Genet. 2007 Apr;80(4):800-4. doi: 10.1086/513322. Epub 2007 Feb 22. Am J Hum Genet. 2007. PMID: 17357085 Free PMC article.

9

Abnormal XY interchange between a novel isolated protein kinase gene, PRKY, and its homologue, PRKX, accounts for one third of all (Y+)XX males and (Y-)XY females.

Schiebel K, Winkelmann M, Mertz A, Xu X, Page DC, Weil D, Petit C, Rappold GA. Schiebel K, et al. Among authors: weil d. Hum Mol Genet. 1997 Oct;6(11):1985-9. doi: 10.1093/hmg/6.11.1985. Hum Mol Genet. 1997. PMID: 9302280

10

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene.

Denoyelle F, Weil D, Maw MA, Wilcox SA, Lench NJ, Allen-Powell DR, Osborn AH, Dahl HH, Middleton A, Houseman MJ, Dodé C, Marlin S, Boulila-ElGaïed A, Grati M, Ayadi H, BenArab S, Bitoun P, Lina-Granade G, Godet J, Mustapha M, Loiselet J, El-Zir E, Aubois A, Joannard A, Levilliers J, Garabédian EN, Mueller RF, Gardner RJ, Petit C, et al. Denoyelle F, et al. Among authors: weil d. Hum Mol Genet. 1997 Nov;6(12):2173-7. doi: 10.1093/hmg/6.12.2173. Hum Mol Genet. 1997. PMID: 9336442

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