Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment
Bonnet, C., Louha, M., Loundon, N., Michalski, N., Verpy, E., Smagghe, L., Hardelin, J.-P., Rouillon, I., Jonard, L., Couderc, R., Gherbi, S., Garabedian, E.N., Denoyelle, F., Petit, C., Marlin, S.
Published in Gene (25.09.2013)
Published in Gene (25.09.2013)
Get full text
Journal Article
Efficient Detection of Point Mutations on Color-Coded Strands of Target DNA
Verpy, E., Biasotto, M., Meo, T., Tosi, M.
Published in Proceedings of the National Academy of Sciences - PNAS (01.03.1994)
Published in Proceedings of the National Academy of Sciences - PNAS (01.03.1994)
Get full text
Journal Article
Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes
Simmler, M C, Zwaenepoel, I, Verpy, E, Guillaud, L, Elbaz, C, Petit, C, Panthier, J J
Published in Mammalian genome (01.11.2000)
Get full text
Published in Mammalian genome (01.11.2000)
Journal Article
Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function
Verpy, E, Couture-Tosi, E, Eldering, E, Lopez-Trascasa, M, Späth, P, Meo, T, Tosi, M
Published in The Journal of clinical investigation (01.01.1995)
Published in The Journal of clinical investigation (01.01.1995)
Get full text
Journal Article
A defect in harmonin, a PDZ domain-containing protein expressed in the inner ear sensory hair cells, underlies Usher syndrome type 1C
Petit, Christine, Verpy, Elisabeth, Leibovici, Michel, Zwaenepoel, Ingrid, Liu, Xue-Zhong, Gal, Andreas, Salem, Nabiha, Mansour, Ahmad, Blanchard, Stéphane, Kobayashi, Ichiro, Keats, Bronya J.B, Slim, Rima
Published in Nature genetics (01.09.2000)
Published in Nature genetics (01.09.2000)
Get full text
Journal Article
Inactivation of NADPH oxidase organizer 1 Results in Severe Imbalance
Kiss, Péter J., Knisz, Judit, Zhang, Yuzhou, Baltrusaitis, Jonas, Sigmund, Curt D., Thalmann, Ruediger, Smith, Richard J.H., Verpy, Elisabeth, Bánfi, Botond
Published in Current biology (24.01.2006)
Published in Current biology (24.01.2006)
Get full text
Journal Article
Otoancorin, An Inner Ear Protein Restricted to the Interface between the Apical Surface of Sensory Epithelia and Their Overlying Acellular Gels, Is Defective in Autosomal Recessive Deafness DFNB22
Zwaenepoel, Ingrid, Mustapha, Mirna, Leibovici, Michel, Verpy, Elisabeth, Goodyear, Richard, Liu, Xue Zhong, Nouaille, Sylvie, Nance, Walter E., Kanaan, Moien, Avraham, Karen B., Tekaia, Fredj, Loiselet, Jacques, Lathrop, Marc, Richardson, Guy, Petit, Christine
Published in Proceedings of the National Academy of Sciences - PNAS (30.04.2002)
Published in Proceedings of the National Academy of Sciences - PNAS (30.04.2002)
Get full text
Journal Article
Characterization of Otoconin-95, the Major Protein of Murine Otoconia, Provides Insights into the Formation of these Inner Ear Biominerals
Verpy, Elisabeth, Leibovici, Michel, Petit, Christine
Published in Proceedings of the National Academy of Sciences - PNAS (19.01.1999)
Published in Proceedings of the National Academy of Sciences - PNAS (19.01.1999)
Get full text
Journal Article
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus
Lainé, Sophie, Masmoudi, Saber, Hutchin, Tim P, Verpy, Elisabeth, Leibovici, Michel, Nouaille, Sylvie, Del Castillo, Ignacio, Blanchard, Stéphane, Petit, Christine, Popot, Jean-Luc, Moreno, Felipe, Mueller, Robert F, Zwaenepoel, Ingrid
Published in Nature genetics (01.11.2001)
Published in Nature genetics (01.11.2001)
Get full text
Journal Article
Mutations in the alternatively spliced exons of USH1C cause non-syndromic recessive deafness
XIAO MEI OUYANG, XIA JUAN XIA, VERPY, Elisabeth, LI LIN DU, PANDYA, Arti, PETIT, Christine, BALKANY, Thomas, NANCE, Walter E, XUE ZHONG LIU
Published in Human genetics (01.07.2002)
Published in Human genetics (01.07.2002)
Get full text
Journal Article
Identification of three novel mutations in the USH1C gene and detection of thirty-one polymorphisms used for haplotype analysis
Zwaenepoel, Ingrid, Verpy, Elisabeth, Blanchard, Stéphane, Meins, Moritz, Apfelstedt-Sylla, Eckart, Gal, Andreas, Petit, Christine
Published in Human mutation (2001)
Published in Human mutation (2001)
Get full text
Journal Article
Initial characterization of kinocilin, a protein of the hair cell kinocilium
Leibovici, Michel, Verpy, Elisabeth, Goodyear, Richard J., Zwaenepoel, Ingrid, Blanchard, Stéphane, Lainé, Sophie, Richardson, Guy P., Petit, Christine
Published in Hearing research (01.05.2005)
Published in Hearing research (01.05.2005)
Get full text
Journal Article
Twister mutant mice are defective for otogelin, a component specific to inner ear acellular membranes
Simmler, Marie Christine, Zwaenepoel, I, Ingrid, Verpy, Elisabeth, Guillaud, Laurent, Elbaz, Colette, Petit, Christine, Panthier, Jean Jacques
Published in Mammalian genome (01.11.2000)
Published in Mammalian genome (01.11.2000)
Get full text
Journal Article
Efficient detection of point mutations on color-codedstrands of target DNA
Verpy, E, Biasotto, M, Meo, T, Tosi, M
Published in Proceedings of the National Academy of Sciences - PNAS (01.03.1994)
Published in Proceedings of the National Academy of Sciences - PNAS (01.03.1994)
Get full text
Journal Article