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Page 1
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
López-Bigas N, Melchionda S, de Cid R, Grifa A, Zelante L, Govea N, Arbonés ML, Gasparini P, Estivill X. López-Bigas N, et al. Among authors: gasparini p. Hum Mutat. 2001 Dec;18(6):548. doi: 10.1002/humu.1238. Hum Mutat. 2001. Corrected and republished in: Hum Mutat. 2002 Jul;20(1):77-8. doi: 10.1002/humu.9043 PMID: 11748854 Corrected and republished.
Connexin-26 mutations in sporadic and inherited sensorineural deafness.
Estivill X, Fortina P, Surrey S, Rabionet R, Melchionda S, D'Agruma L, Mansfield E, Rappaport E, Govea N, Milà M, Zelante L, Gasparini P. Estivill X, et al. Among authors: gasparini p. Lancet. 1998 Feb 7;351(9100):394-8. doi: 10.1016/S0140-6736(97)11124-2. Lancet. 1998. PMID: 9482292 Free article.
MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss.
Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, Arbones ML, Notarangelo A, Di Iorio E, Carella M, Zelante L, Estivill X, Avraham KB, Gasparini P. Melchionda S, et al. Among authors: gasparini p. Am J Hum Genet. 2001 Sep;69(3):635-40. doi: 10.1086/323156. Epub 2001 Jul 20. Am J Hum Genet. 2001. PMID: 11468689 Free PMC article.
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, Estivill X, Gasparini P, Scott HS, Antonarakis SE. Wattenhofer M, et al. Among authors: gasparini p. J Mol Med (Berl). 2002 Feb;80(2):124-31. doi: 10.1007/s00109-001-0310-6. Epub 2001 Dec 18. J Mol Med (Berl). 2002. PMID: 11907649
610 results