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Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery|August 5, 2025
Bilateral Enlarged Vestibular Aqueduct: Auditory, Genetic and Radiological Characterization, and Benefits of Cochlear ImplantsAugustin Vigouroux, Benjamin Glemain, Renato Torres, et al.
Archives of Otolaryngology--Head & Neck Surgery|July 22, 2009
Velopharyngoplasty for noncleft velopharyngeal insufficiency: results in relation to 22q11 microdeletionIsabelle Rouillon, Nicolas Leboulanger, Gilles Roger, et al.
Clinical Genetics|October 21, 2023
RIPOR2: A new gene of non-syndromic cochleovestibular dysfunction, discrepancy between human pathology and animal modelsGodelieve Morel, Sylvain Ernest, Margaux Serey-Gaut, et al.
American Journal of Medical Genetics. Part A|July 17, 2010
Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrumCaroline Rooryck, Noui Souakri, Dorothée Cailley, et al.
Human Mutation|February 1, 2011
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutationsPauline Krug, Vincent Morinière, Sandrine Marlin, et al.
European Journal of Medical Genetics|December 23, 2008
A new large deletion in the DFNB1 locus causes nonsyndromic hearing lossDelphine Feldmann, Cédric Le Maréchal, Laurence Jonard, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 14, 2008
Usher syndrome type 1: early detection of electroretinographic changesRoberto Flores-Guevara, Francis Renault, Natalie Loundon, et al.
Stem Cell Research|August 16, 2020
Generation of an iPSC line (IMAGINi022-A) from a patient carrying a SOX10 missense mutation and presenting with deafness, depigmentation and progressive neurological impairmentCeline Banal, Eddy Quelennec, William Bertani-Torres, et al.
Clinical Dysmorphology|December 6, 2008
Hallerman-Streiff-like syndrome presenting with laterality and cardiac defectsFanny Morice-Picard, Sandrine Marlin, Caroline Rooryck, et al.
Arthritis and Rheumatism|April 12, 2011
Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapyIsabelle Jéru, Véronique Hentgen, Sylvain Normand, et al.
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