Mustapha M - Search Results

1

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

2

A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness.

Yasunaga S, Grati M, Cohen-Salmon M, El-Amraoui A, Mustapha M, Salem N, El-Zir E, Loiselet J, Petit C. Yasunaga S, et al. Among authors: mustapha m. Nat Genet. 1999 Apr;21(4):363-9. doi: 10.1038/7693. Nat Genet. 1999. PMID: 10192385

3

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. Eur J Hum Genet. 2002 Mar;10(3):210-2. doi: 10.1038/sj.ejhg.5200780. Eur J Hum Genet. 2002. PMID: 11973626

4

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: mustapha m. Eur J Hum Genet. 2002 Jun;10(6):391-4. doi: 10.1038/sj.ejhg.5200813. Eur J Hum Genet. 2002. PMID: 12080392

5

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. Among authors: mustapha m. Hum Mol Genet. 2003 Mar 1;12(5):463-71. doi: 10.1093/hmg/ddg051. Hum Mol Genet. 2003. PMID: 12588794

6

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. Hum Mol Genet. 1999 Mar;8(3):409-12. doi: 10.1093/hmg/8.3.409. Hum Mol Genet. 1999. PMID: 9949200

7

Otoancorin, an inner ear protein restricted to the interface between the apical surface of sensory epithelia and their overlying acellular gels, is defective in autosomal recessive deafness DFNB22.

Zwaenepoel I, Mustapha M, Leibovici M, Verpy E, Goodyear R, Liu XZ, Nouaille S, Nance WE, Kanaan M, Avraham KB, Tekaia F, Loiselet J, Lathrop M, Richardson G, Petit C. Zwaenepoel I, et al. Among authors: mustapha m. Proc Natl Acad Sci U S A. 2002 Apr 30;99(9):6240-5. doi: 10.1073/pnas.082515999. Epub 2002 Apr 23. Proc Natl Acad Sci U S A. 2002. PMID: 11972037 Free PMC article.

8

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. Hum Genet. 2002 Apr;110(4):348-50. doi: 10.1007/s00439-002-0690-x. Epub 2002 Mar 12. Hum Genet. 2002. PMID: 11941484

9

Jeng JY, Johnson SL, Carlton AJ, De Tomasi L, Goodyear RJ, De Faveri F, Furness DN, Wells S, Brown SDM, Holley MC, Richardson GP, Mustapha M, Bowl MR, Marcotti W. Jeng JY, et al. Among authors: mustapha m. J Physiol. 2020 Sep;598(18):3891-3910. doi: 10.1113/JP279795. Epub 2020 Jul 22. J Physiol. 2020. PMID: 32608086 Free PMC article.

10

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. Eur J Hum Genet. 1998 Nov-Dec;6(6):548-51. doi: 10.1038/sj.ejhg.5200261. Eur J Hum Genet. 1998. PMID: 9887371

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