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Tsukada K, Nishio S, Usami S, and the Deafness Gene Study Consortium. A large cohort study of GJB2 mutations in Japanese hearing loss patients. GJB2 is the gene most frequently associated with hereditary hearing loss, and the GJB2 mutation spectrums vary among different ethnic groups. In this...
Urreizti R, Moya‐García AA, Pino‐ Ángeles A, Cozar M, Langkilde A, Fanhoe U, Esteves C, Arribas J, Vilaseca MA, Pérez‐Dueñas B, Pineda M, González V, Artuch R, Baldellou, A, Vilarinho L, Fowler B, Ribes A, Sánchez‐Jiménez F, Grinberg D, Balcells S. Molecular characterization of...
Wooderchak W, Gedge F, McDonald M, Krautscheid P, Wang X, Malkiewicz J, Bukjiok CJ, Lewis T, Bayrak‐Toydemir P. Hereditary hemorrhagic telangiectasia: two distinct ENG deletions in one family. Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by...
Chien W‐H, Gau SS‐F, Wu Y‐Y, Huang Y‐S, Fang J‐S, Chen Y‐J, Soong W‐T, Chiu Y‐N, Chen C‐H. Identification and molecular characterization of two novel chromosomal deletions associated with autism. Autism is a childhood‐onset neurodevelopmental disorder with a strong genetic...
Tonelli A, Romaniello R, Grasso R, Cavallini A, Righini A, Bresolin N, Borgatti R, Bassi MT. Novel splice‐site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy. Infantile neuroaxonal dystrophy, INAD, is...
Mutations in PNKP cause microcephaly, seizures and defects in DNA repair Shen et al. (2010) Nature Genetics 42(3): 245–249
Novara F, Beri S, Giorda R, Ortibus E, Nageshappa S, Darra F, dalla Bernardina B, Zuffardi O, Van Esch H. Refining the phenotype associated with MEF2C haploinsufficiency. Recently, submicroscopic deletions of the 5q14.3 region have been described in patients with severe mental retardation (MR),...
Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori‐Herishanu L, Horvath A, Tsang KM, Nesterova M, Franklin S, Vanbellinghen J‐F, Bours V, Salvatori R, Beckers A. The role of germline AIP, MEN1, PRKAR1A, CDKN1B...
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