Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct

Authors: Jonard, Laurence, Niasme-Grare, Magali, Bonnet, Crystel, Feldmann, Delphine, Rouillon, Isabelle, Loundon, Natalie, Calais, Catherine, Catros, Hélène, David, Albert, Dollfus, Hélène, Drouin-Garraud, Valérie, Duriez, Françoise, Eliot, Marie Madeleine, Fellmann, Florence, Francannet, Christine, Gilbert-Dussardier, Brigitte, Gohler, Catherine, Goizet, Cyril, Journel, Hubert, Mom, Thierry, Thuillier-Obstoy, Marie-Françoise, Couderc, Remy, Garabédian, Eréa Noël, Denoyelle, Françoise, Marlin, Sandrine

Source: In International Journal of Pediatric Otorhinolaryngology 2010 74(9):1049-1053

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SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

Authors: Albert, Sébastien, Blons, Hélène, Jonard, Laurence, Feldmann, Delphine, Chauvin, Pierre, Loundon, Nathalie, Sergent-Allaoui, Annie, Houang, Muriel, Joannard, Alain, Schmerber, Sébastien, Delobel, Bruno, Leman, Jacques, Journel, Hubert, Catros, Hélène, Dollfus, Hélène, Eliot, Marie-Madeleine, David, Albert, Calais, Catherine, Drouin-Garraud, Valérie, Obstoy, Marie-Françoise

Source: European Journal of Human Genetics; Jun2006, Vol. 14 Issue 6, p773-779, 7p, 4 Charts

Subject Terms: HEARING disorders, EAR diseases, CAUCASIAN race, HEARING, DISEASES, HUMAN genetics

GJB2 and GJB6 Mutations: Genotypic and Phenotypic Correlations in a Large Cohort of Hearing-Impaired Patients.

Authors: Marlin, Sandrine, Feldmann, Delphine, Blons, Hélène, Loundon, Natalie, Rouillon, Isabelle, Albert, Sébastien, Chauvin, Pierre, Garabédian, Eréa-Noël, Couderc, Rémy, Odent, Sylvie, Joannard, Alain, Schmerber, Sébastien, Delobel, Bruno, Leman, Jacques, Journel, Hubert, Catros, Hélène, Lemarechal, Cédric, Dollfus, Hél�xE8;ne, Eliot, Marie-Madeleine, Delaunoy, Jean-Louis

Source: Archives of Otolaryngology - Head & Neck Surgery; Jun2005, Vol. 131 Issue 6, p481-487, 7p

Subject Terms: HEARING impaired, GENETIC polymorphisms, GENETIC research, DEAFNESS, GENETIC mutation, THERAPEUTICS

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.

Authors: Feldmann, Delphine, Denoyelle, Françoise, Loundon, Natalie, Weil, Dominique, Garabedian, Erea-Noel, Couderc, Remy, Joannard, Alain, Schmerber, Sébastien, Delobel, Bruno, Leman, Jacques, Journel, Hubert, Catros, Hélène, Ferrec, Claude, Drouin-Garraud, Valérie, Obstoy, Marie-Françoise, Moati, Lucien, Petit, Christine, Marlin, Sandrine

Source: European Journal of Human Genetics; Apr2004, Vol. 12 Issue 4, p279-284, 6p

Subject Terms: GENETICS of deafness, HEARING impaired, EAR diseases, CONNEXINS, GENES, GENETIC mutation

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

Authors: Feldmann, Delphine, Denoyelle, Françoise, Chauvin, Pierre, Garabédian, Eréa-Noël, Couderc, Rémy, Odent, Sylvie, Joannard, Alain, Schmerber, Sébastien, Delobel, Bruno, Leman, Jacques, Journel, Hubert, Catros, Hélène, Maréchal, Cédric Le, Dollfus, Hélène, Eliot, Marie-Madeleine, Delaunoy, Jean-Pierre, David, Albert, Calais, Catherine, Drouin-Garraud, Valérie, Obstoy, Marie-Françoise, Bouccara, Didier, Sterkers, Olivier, Huy, Patrice Tran Ba

Source: American Journal of Medical Genetics. Part A; 15 June 2004, Vol. 127 Issue: 3 p263-267, 5p