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Christine Petit
Christine Petit
Professor at Collège de France and Institut Pasteur, Founding director of the Hearing Institute
Verified email at pasteur.fr
Title
Cited by
Cited by
Year
Defective myosin VIIA gene responsible for Usher syndrome type IB
D Well, S Blanchard, J Kaplan, P Guilford, F Gibson, J Walsh, P Mburu, ...
Nature 374 (6517), 60-61, 1995
12011995
KCNQ4, a novel potassium channel expressed in sensory outer hair cells, is mutated in dominant deafness
C Kubisch, BC Schroeder, T Friedrich, B Lütjohann, A El-Amraoui, ...
Cell 96 (3), 437-446, 1999
10761999
A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
N Neyroud, F Tesson, I Denjoy, M Leibovici, C Donger, J Barhanin, ...
Nature genetics 15 (2), 186-189, 1997
10731997
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome
C Dodé, J Levilliers, JM Dupont, A De Paepe, N Le Dû, ...
Nature genetics 33 (4), 463-465, 2003
9832003
Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene
F Denoyelle, D Weil, MA Maw, SA Wilcox, NJ Lench, DR Allen-Powell, ...
Human molecular genetics 6 (12), 2173-2177, 1997
8401997
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules
R Legouis, JP Hardelin, J Levilliers, JM Claverie, S Compain, V Wunderle, ...
Cell 67 (2), 423-435, 1991
7931991
A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family
S Abdelhak, V Kalatzis, R Heilig, S Compain, D Samson, C Vincent, ...
Nature genetics 15 (2), 157-164, 1997
7291997
Otoferlin, defective in a human deafness form, is essential for exocytosis at the auditory ribbon synapse
I Roux, S Safieddine, R Nouvian, M Grati, MC Simmler, A Bahloul, ...
Cell 127 (2), 277-289, 2006
7122006
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness
S Yasunaga, M Cohen-Salmon, A El-Amraoui, M Mustapha, N Salem, ...
Nature genetics 21 (4), 363-369, 1999
6781999
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling
F Denoyelle, S Marlin, D Weil, L Moatti, P Chauvin, ÉN Garabédian, ...
The Lancet 353 (9161), 1298-1303, 1999
5991999
Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2
C Dodé, L Teixeira, J Levilliers, C Fouveaut, P Bouchard, ML Kottler, ...
PLoS genetics 2 (10), e175, 2006
5392006
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
E Verpy, M Leibovici, I Zwaenepoel, XZ Liu, A Gal, N Salem, A Mansour, ...
Nature genetics 26 (1), 51-55, 2000
5212000
KCNQ4, a K+ channel mutated in a form of dominant deafness, is expressed in the inner ear and the central auditory pathway
T Kharkovets, JP Hardelin, S Safieddine, M Schweizer, A El-Amraoui, ...
Proceedings of the National Academy of Sciences 97 (8), 4333-4338, 2000
5032000
Targeted ablation of connexin26 in the inner ear epithelial gap junction network causes hearing impairment and cell death
M Cohen-Salmon, T Ott, V Michel, JP Hardelin, I Perfettini, M Eybalin, ...
Current Biology 12 (13), 1106-1111, 2002
4982002
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1–SIX1–DNA complexes
RG Ruf, PX Xu, D Silvius, EA Otto, F Beekmann, UT Muerb, S Kumar, ...
Proceedings of the National Academy of Sciences 101 (21), 8090-8095, 2004
4952004
Myosin VIIa, harmonin and cadherin 23, three Usher I gene products that cooperate to shape the sensory hair cell bundle
B Boëda, A El‐Amraoui, A Bahloul, R Goodyear, L Daviet, S Blanchard, ...
The EMBO journal, 2002
4942002
The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
D Weil, P Küssel, S Blanchard, G Lévy, F Levi-Acobas, M Drira, H Ayadi, ...
Nature genetics 16 (2), 191-193, 1997
4941997
Molecular genetics of hearing loss
C Petit, J Levilliers, JP Hardelin
Annual review of genetics 35 (1), 589-645, 2001
4192001
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
B Teubner, V Michel, J Pesch, J Lautermann, M Cohen-Salmon, G Söhl, ...
Human molecular genetics 12 (1), 13-21, 2003
3932003
Connexin 26 gene linked to a dominant deafness
F Denoyelle, G Lina-Granade, H Plauchu, R Bruzzone, H Chaïb, ...
Nature 393 (6683), 319-320, 1998
3821998
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