Delmaghani S - Search Results

1

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

Dodé C, Levilliers J, Dupont JM, De Paepe A, Le Dû N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pêcheux C, Le Tessier D, Cruaud C, Delpech M, Speleman F, Vermeulen S, Amalfitano A, Bachelot Y, Bouchard P, Cabrol S, Carel JC, Delemarre-van de Waal H, Goulet-Salmon B, Kottler ML, Richard O, Sanchez-Franco F, Saura R, Young J, Petit C, Hardelin JP. Dodé C, et al. Among authors: delmaghani s. Nat Genet. 2003 Apr;33(4):463-5. doi: 10.1038/ng1122. Epub 2003 Mar 10. Nat Genet. 2003. PMID: 12627230

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

3

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. Eur J Hum Genet. 2003 Oct;11(10):816-8. doi: 10.1038/sj.ejhg.5201045. Eur J Hum Genet. 2003. PMID: 14512974

4

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy.

Delmaghani S, del Castillo FJ, Michel V, Leibovici M, Aghaie A, Ron U, Van Laer L, Ben-Tal N, Van Camp G, Weil D, Langa F, Lathrop M, Avan P, Petit C. Delmaghani S, et al. Nat Genet. 2006 Jul;38(7):770-8. doi: 10.1038/ng1829. Epub 2006 Jun 25. Nat Genet. 2006. PMID: 16804542

5

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness.

Delmaghani S, Aghaie A, Michalski N, Bonnet C, Weil D, Petit C. Delmaghani S, et al. Hum Mol Genet. 2012 Sep 1;21(17):3835-44. doi: 10.1093/hmg/dds212. Epub 2012 Jun 7. Hum Mol Genet. 2012. PMID: 22678063

6

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.

Delmaghani S, Defourny J, Aghaie A, Beurg M, Dulon D, Thelen N, Perfettini I, Zelles T, Aller M, Meyer A, Emptoz A, Giraudet F, Leibovici M, Dartevelle S, Soubigou G, Thiry M, Vizi ES, Safieddine S, Hardelin JP, Avan P, Petit C. Delmaghani S, et al. Cell. 2015 Nov 5;163(4):894-906. doi: 10.1016/j.cell.2015.10.023. Cell. 2015. PMID: 26544938 Free article.

7

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.

Delmaghani S, Aghaie A, Bouyacoub Y, El Hachmi H, Bonnet C, Riahi Z, Chardenoux S, Perfettini I, Hardelin JP, Houmeida A, Herbomel P, Petit C. Delmaghani S, et al. Am J Hum Genet. 2016 Jun 2;98(6):1266-1270. doi: 10.1016/j.ajhg.2016.04.015. Am J Hum Genet. 2016. PMID: 27259055 Free PMC article.

8

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11.

Hilgert N, Alasti F, Dieltjens N, Pawlik B, Wollnik B, Uyguner O, Delmaghani S, Weil D, Petit C, Danis E, Yang T, Pandelia E, Petersen MB, Goossens D, Favero JD, Sanati MH, Smith RJ, Van Camp G. Hilgert N, et al. Among authors: delmaghani s. Clin Genet. 2008 Sep;74(3):223-32. doi: 10.1111/j.1399-0004.2008.01053.x. Epub 2008 Jul 9. Clin Genet. 2008. PMID: 18616530 Free PMC article.

9

Pejvakin-mediated pexophagy protects auditory hair cells against noise-induced damage.

Defourny J, Aghaie A, Perfettini I, Avan P, Delmaghani S, Petit C. Defourny J, et al. Among authors: delmaghani s. Proc Natl Acad Sci U S A. 2019 Apr 16;116(16):8010-8017. doi: 10.1073/pnas.1821844116. Epub 2019 Apr 1. Proc Natl Acad Sci U S A. 2019. PMID: 30936319 Free PMC article.

10

Clarin-2 is essential for hearing by maintaining stereocilia integrity and function.

Dunbar LA, Patni P, Aguilar C, Mburu P, Corns L, Wells HR, Delmaghani S, Parker A, Johnson S, Williams D, Esapa CT, Simon MM, Chessum L, Newton S, Dorning J, Jeyarajan P, Morse S, Lelli A, Codner GF, Peineau T, Gopal SR, Alagramam KN, Hertzano R, Dulon D, Wells S, Williams FM, Petit C, Dawson SJ, Brown SD, Marcotti W, El-Amraoui A, Bowl MR. Dunbar LA, et al. Among authors: delmaghani s. EMBO Mol Med. 2019 Sep;11(9):e10288. doi: 10.15252/emmm.201910288. Epub 2019 Aug 26. EMBO Mol Med. 2019. PMID: 31448880 Free PMC article.

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