Petit C - Search Results

1

Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder.

Zong L, Guan J, Ealy M, Zhang Q, Wang D, Wang H, Zhao Y, Shen Z, Campbell CA, Wang F, Yang J, Sun W, Lan L, Ding D, Xie L, Qi Y, Lou X, Huang X, Shi Q, Chang S, Xiong W, Yin Z, Yu N, Zhao H, Wang J, Wang J, Salvi RJ, Petit C, Smith RJ, Wang Q. Zong L, et al. Among authors: petit c. J Med Genet. 2015 Aug;52(8):523-31. doi: 10.1136/jmedgenet-2014-102961. Epub 2015 May 18. J Med Genet. 2015. PMID: 25986071 Free PMC article.

2

Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

Hardelin JP, Levilliers J, Blanchard S, Carel JC, Leutenegger M, Pinard-Bertelletto JP, Bouloux P, Petit C. Hardelin JP, et al. Among authors: petit c. Hum Mol Genet. 1993 Apr;2(4):373-7. doi: 10.1093/hmg/2.4.373. Hum Mol Genet. 1993. PMID: 8504298

3

Mapping of DFNB12, a gene for a non-syndromal autosomal recessive deafness, to chromosome 10q21-22.

Chaib H, Place C, Salem N, Dodé C, Chardenoux S, Weissenbach J, el Zir E, Loiselet J, Petit C. Chaib H, et al. Among authors: petit c. Hum Mol Genet. 1996 Jul;5(7):1061-4. doi: 10.1093/hmg/5.7.1061. Hum Mol Genet. 1996. PMID: 8817348

4

Genes responsible for human hereditary deafness: symphony of a thousand.

Petit C. Petit C. Nat Genet. 1996 Dec;14(4):385-91. doi: 10.1038/ng1296-385. Nat Genet. 1996. PMID: 8944017 Review.

5

A newly identified locus for Usher syndrome type I, USH1E, maps to chromosome 21q21.

Chaïb H, Kaplan J, Gerber S, Vincent C, Ayadi H, Slim R, Munnich A, Weissenbach J, Petit C. Chaïb H, et al. Among authors: petit c. Hum Mol Genet. 1997 Jan;6(1):27-31. doi: 10.1093/hmg/6.1.27. Hum Mol Genet. 1997. PMID: 9002666

6

Mutations of GJB2 in three geographic isolates from northern Tunisia: evidence for genetic heterogeneity within isolates.

Ben Arab S, Hmani M, Denoyelle F, Boulila-Elgaied A, Chardenoux S, Hachicha S, Petit C, Ayadi H. Ben Arab S, et al. Among authors: petit c. Clin Genet. 2000 Jun;57(6):439-43. doi: 10.1034/j.1399-0004.2000.570607.x. Clin Genet. 2000. PMID: 10905664

7

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss.

Liu XZ, Ouyang XM, Xia XJ, Zheng J, Pandya A, Li F, Du LL, Welch KO, Petit C, Smith RJ, Webb BT, Yan D, Arnos KS, Corey D, Dallos P, Nance WE, Chen ZY. Liu XZ, et al. Among authors: petit c. Hum Mol Genet. 2003 May 15;12(10):1155-62. doi: 10.1093/hmg/ddg127. Hum Mol Genet. 2003. PMID: 12719379

8

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. Among authors: petit c. Nat Genet. 2006 Jul;38(7):770-8. doi: 10.1038/ng1829. Epub 2006 Jun 25. Nat Genet. 2006. PMID: 16804542

9

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: petit c. 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.

10

Screening mutations of OTOF gene in Chinese patients with auditory neuropathy, including a familial case of temperature-sensitive auditory neuropathy.

Wang DY, Wang YC, Weil D, Zhao YL, Rao SQ, Zong L, Ji YB, Liu Q, Li JQ, Yang HM, Shen Y, Benedict-Alderfer C, Zheng QY, Petit C, Wang QJ. Wang DY, et al. Among authors: petit c. BMC Med Genet. 2010 May 26;11:79. doi: 10.1186/1471-2350-11-79. BMC Med Genet. 2010. PMID: 20504331 Free PMC article.

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