Weil D - Search Results

1

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

2

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

3

Non-syndromic recessive deafness in Jordan: mapping of a new locus to chromosome 9q34.3 and prevalence of DFNB1 mutations.

Medlej-Hashim M, Mustapha M, Chouery E, Weil D, Parronaud J, Salem N, Delague V, Loiselet J, Lathrop M, Petit C, Mégarbané A. Medlej-Hashim M, et al. Among authors: weil d. Eur J Hum Genet. 2002 Jun;10(6):391-4. doi: 10.1038/sj.ejhg.5200813. Eur J Hum Genet. 2002. PMID: 12080392

4

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

5

DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1.

Delmaghani S, Aghaie A, Compain-Nouaille S, Ataie A, Lemainque A, Zeinali S, Lathrop M, Weil D, Petit C. Delmaghani S, et al. Among authors: weil d. Eur J Hum Genet. 2003 Oct;11(10):816-8. doi: 10.1038/sj.ejhg.5201045. Eur J Hum Genet. 2003. PMID: 14512974

6

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

7

Re-assigning the DFNB33 locus to chromosome 10p11.23-q21.1.

Belguith H, Masmoudi S, Medlej-Hashim M, Chouery E, Weil D, Ayadi H, Petit C, Mégarbané A. Belguith H, et al. Among authors: weil d. Eur J Hum Genet. 2009 Jan;17(1):122-4. doi: 10.1038/ejhg.2008.155. Epub 2008 Sep 10. Eur J Hum Genet. 2009. PMID: 18781188 Free PMC article.

8

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

9

Identification of a locus on chromosome 7q31, DFNB14, responsible for prelingual sensorineural non-syndromic deafness.

Mustapha M, Salem N, Weil D, el-Zir E, Loiselet J, Petit C. Mustapha M, et al. Among authors: weil d. Eur J Hum Genet. 1998 Nov-Dec;6(6):548-51. doi: 10.1038/sj.ejhg.5200261. Eur J Hum Genet. 1998. PMID: 9887371

10

An alpha-tectorin gene defect causes a newly identified autosomal recessive form of sensorineural pre-lingual non-syndromic deafness, DFNB21.

Mustapha M, Weil D, Chardenoux S, Elias S, El-Zir E, Beckmann JS, Loiselet J, Petit C. Mustapha M, et al. Among authors: weil d. Hum Mol Genet. 1999 Mar;8(3):409-12. doi: 10.1093/hmg/8.3.409. Hum Mol Genet. 1999. PMID: 9949200

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