Petit C - Search Results

1

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.

Feldmann D, Denoyelle F, Loundon N, Weil D, Garabedian EN, Couderc R, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Ferrec C, Drouin-Garraud V, Obstoy MF, Moati L, Petit C, Marlin S. Feldmann D, et al. Among authors: petit c. Eur J Hum Genet. 2004 Apr;12(4):279-84. doi: 10.1038/sj.ejhg.5201147. Eur J Hum Genet. 2004. PMID: 14694360

2

Prevalence and molecular analysis of two hot spots for ectopic recombination leading to XX maleness.

Wang I, Weil D, Levilliers J, Affara NA, de la Chapelle A, Petit C. Wang I, et al. Among authors: petit c. Genomics. 1995 Jul 1;28(1):52-8. doi: 10.1006/geno.1995.1105. Genomics. 1995. PMID: 7590747

3

A gene responsible for a dominant form of neurosensory non-syndromic deafness maps to the NSRD1 recessive deafness gene interval.

Chaïb H, Lina-Granade G, Guilford P, Plauchu H, Levilliers J, Morgon A, Petit C. Chaïb H, et al. Among authors: petit c. Hum Mol Genet. 1994 Dec;3(12):2219-22. doi: 10.1093/hmg/3.12.2219. Hum Mol Genet. 1994. PMID: 7881423

4

Highly homologous loci on the X and Y chromosomes are hot-spots for ectopic recombinations leading to XX maleness.

Weil D, Wang I, Dietrich A, Poustka A, Weissenbach J, Petit C. Weil D, et al. Among authors: petit c. Nat Genet. 1994 Jul;7(3):414-9. doi: 10.1038/ng0794-414. Nat Genet. 1994. PMID: 7920661

5

A 45,X male with an X;Y translocation: implications for the mapping of the genes responsible for Turner syndrome and X-linked chondrodysplasia punctata.

Weil D, Portnoï MF, Levilliers J, Wang I, Mathieu M, Taillemite JL, Meier M, Boudailliez B, Petit C. Weil D, et al. Among authors: petit c. Hum Mol Genet. 1993 Nov;2(11):1853-6. doi: 10.1093/hmg/2.11.1853. Hum Mol Genet. 1993. PMID: 8281147

6

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: petit c. Hum Mol Genet. 1997 Jan;6(1):111-6. doi: 10.1093/hmg/6.1.111. Hum Mol Genet. 1997. PMID: 9002678

7

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. Among authors: petit c. Nat Genet. 1997 Jun;16(2):191-3. doi: 10.1038/ng0697-191. Nat Genet. 1997. PMID: 9171833

8

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: petit c. Hum Mol Genet. 1997 Nov;6(12):2173-7. doi: 10.1093/hmg/6.12.2173. Hum Mol Genet. 1997. PMID: 9336442

9

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

Abdelhak S, Kalatzis V, Heilig R, Compain S, Samson D, Vincent C, Levi-Acobas F, Cruaud C, Le Merrer M, Mathieu M, König R, Vigneron J, Weissenbach J, Petit C, Weil D. Abdelhak S, et al. Among authors: petit c. Hum Mol Genet. 1997 Dec;6(13):2247-55. doi: 10.1093/hmg/6.13.2247. Hum Mol Genet. 1997. PMID: 9361030

10

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: petit c. Am J Hum Genet. 1997 Oct;61(4):813-21. doi: 10.1086/514899. Am J Hum Genet. 1997. PMID: 9382091 Free PMC article.

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