Christine Petit
Christine Petit
Professor at Collège de France and Institut Pasteur, Founding director of the Hearing Institute
Dirección de correo verificada de pasteur.fr
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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
11111995
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
9711997
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
9401999
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
8482003
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
7971997
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
7321991
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
6321997
A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness
S Yasunaga, M Grati, M Cohen-Salmon, A El-Amraoui, M Mustapha, ...
Nature genetics 21 (4), 363-369, 1999
5711999
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
5542006
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
5251999
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
4562000
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
4432002
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 21 (24), 6689-6699, 2002
4422002
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 Genet 2 (10), e175, 2006
4382006
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
4351997
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
4232000
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
3972004
Molecular genetics of hearing loss
C Petit, J Levilliers, JP Hardelin
Annual review of genetics 35 (1), 589-645, 2001
3742001
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
3611998
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
3532003
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Artículos 1–20