Blanchard S - Search Results

1

Townes-Brocks syndrome: detection of a SALL1 mutation hot spot and evidence for a position effect in one patient.

Marlin S, Blanchard S, Slim R, Lacombe D, Denoyelle F, Alessandri JL, Calzolari E, Drouin-Garraud V, Ferraz FG, Fourmaintraux A, Philip N, Toublanc JE, Petit C. Marlin S, et al. Among authors: blanchard s. Hum Mutat. 1999;14(5):377-86. doi: 10.1002/(SICI)1098-1004(199911)14:5<377::AID-HUMU3>3.0.CO;2-A. Hum Mutat. 1999. PMID: 10533063

2

Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis.

Zwaenepoel I, Verpy E, Blanchard S, Meins M, Apfelstedt-Sylla E, Gal A, Petit C. Zwaenepoel I, et al. Among authors: blanchard s. Hum Mutat. 2001;17(1):34-41. doi: 10.1002/1098-1004(2001)17:1<34::AID-HUMU4>3.0.CO;2-O. Hum Mutat. 2001. PMID: 11139240

3

A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C.

Verpy E, Leibovici M, Zwaenepoel I, Liu XZ, Gal A, Salem N, Mansour A, Blanchard S, Kobayashi I, Keats BJ, Slim R, Petit C. Verpy E, et al. Among authors: blanchard s. Nat Genet. 2000 Sep;26(1):51-5. doi: 10.1038/79171. Nat Genet. 2000. PMID: 10973247

4

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: blanchard s. Hum Mol Genet. 1993 Apr;2(4):373-7. doi: 10.1093/hmg/2.4.373. Hum Mol Genet. 1993. PMID: 8504298

5

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

6

Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome.

del Castillo I, Cohen-Salmon M, Blanchard S, Lutfalla G, Petit C. del Castillo I, et al. Among authors: blanchard s. Nat Genet. 1992 Dec;2(4):305-10. doi: 10.1038/ng1292-305. Nat Genet. 1992. PMID: 1303284

7

A human gene responsible for neurosensory, non-syndromic recessive deafness is a candidate homologue of the mouse sh-1 gene.

Guilford P, Ayadi H, Blanchard S, Chaib H, Le Paslier D, Weissenbach J, Drira M, Petit C. Guilford P, et al. Among authors: blanchard s. Hum Mol Genet. 1994 Jun;3(6):989-93. doi: 10.1093/hmg/3.6.989. Hum Mol Genet. 1994. PMID: 7951250

8

Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus.

Verpy E, Masmoudi S, Zwaenepoel I, Leibovici M, Hutchin TP, Del Castillo I, Nouaille S, Blanchard S, Lainé S, Popot JL, Moreno F, Mueller RF, Petit C. Verpy E, et al. Among authors: blanchard s. Nat Genet. 2001 Nov;29(3):345-9. doi: 10.1038/ng726. Nat Genet. 2001. PMID: 11687802

9

A non-syndrome form of neurosensory, recessive deafness maps to the pericentromeric region of chromosome 13q.

Guilford P, Ben Arab S, Blanchard S, Levilliers J, Weissenbach J, Belkahia A, Petit C. Guilford P, et al. Among authors: blanchard s. Nat Genet. 1994 Jan;6(1):24-8. doi: 10.1038/ng0194-24. Nat Genet. 1994. PMID: 8136828

10

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: blanchard s. Nat Genet. 1997 Jun;16(2):191-3. doi: 10.1038/ng0697-191. Nat Genet. 1997. PMID: 9171833

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