Christine Petit

Overview

Best Publications

• Defective myosin VIIA gene responsible for Usher syndrome type 1B

  Dominique Well;Stéphane Blanchard;Josseline Kaplan;Parry Guilford

  1224
  Citations

• KCNQ4, a Novel Potassium Channel Expressed in Sensory Outer Hair Cells, Is Mutated in Dominant Deafness

  Christian Kubisch;Björn C Schroeder;Thomas Friedrich;Björn Lütjohann

  1069
  Citations

• A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome

  Nathalie Neyroud;Frédérique Tesson;Isabelle Denjoy;Michel Leibovici

  1055
  Citations

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

  Catherine Dodé;Jacqueline Levilliers;Jean-Michel Dupont;Anne De Paepe

  996
  Citations

• Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene

  Françoise Denoyelle;Dominique Weil;Marion A. Maw;Stephen A. Wilcox

  844
  Citations

• Otoferlin, Defective in a Human Deafness Form, Is Essential for Exocytosis at the Auditory Ribbon Synapse

  Isabelle Roux;Saaid Safieddine;Régis Nouvian;M'hamed Grati;M'hamed Grati

  799
  Citations

• The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules

  Renaud Legouis;Jean-Pierre Hardelin;Jacqueline Levilliers;Jean-Michel Claverie

  785
  Citations

• A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

  Abdelhak S;Kalatzis;Heilig R;Compain S

  707
  Citations

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

  Shin'ichiro Yasunaga;M'hamed Grati;Martine Cohen-Salmon;Aziz El-Amraoui

  680
  Citations

• Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

  Francoise Denoyelle;Sandrine Marlin;Dominique Weil;Lucien Moatti

  581
  Citations

• Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

  Catherine Dodé;Luis Teixeira;Jacqueline Levilliers;Corinne Fouveaut

  517
  Citations

• Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death.

  Martine Cohen-Salmon;Thomas Ott;Vincent Michel;Jean Pierre Hardelin

  513
  Citations

• KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway

  Tatjana Kharkovets;Jean-Pierre Hardelin;Saaid Safieddine;Michaela Schweizer

  503
  Citations

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

  Elisabeth Verpy;Michel Leibovici;Ingrid Zwaenepoel;Xue Zhong Liu

  502
  Citations

• Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle

  Batiste Boëda;Aziz El‐Amraoui;Amel Bahloul;Richard Goodyear

  493
  Citations

• The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene.

  Dominique Weil;Polonca Küssel;Stéphane Blanchard;Gallia Lévy

  492
  Citations

• SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes.

  Rainer G. Ruf;Pin-Xian Xu;Derek Silvius;Edgar A. Otto

  488
  Citations

• A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment

  F. J. Del Castillo;M. Rodriguez-Ballesteros;A. Alvarez;T. Hutchin

  432
  Citations

• Molecular Genetics of Hearing Loss

  Christine Petit;Jacqueline Levilliers;Jean-Pierre Hardelin

  416
  Citations

• Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential

  Barbara Teubner;Vincent Michel;Jörg Pesch;Jürgen Lautermann

  397
  Citations