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Page 1
Phenotypic and genetic characterization of a family carrying two Xq21.1-21.3 interstitial deletions associated with syndromic hearing loss.
Iossa S, Costa V, Corvino V, Auletta G, Barruffo L, Cappellani S, Ceglia C, Cennamo G, D'Adamo AP, D'Amico A, Di Paolo N, Forte R, Gasparini P, Laria C, Lombardo B, Malesci R, Vitale A, Marciano E, Franzè A. Iossa S, et al. Among authors: gasparini p. Mol Cytogenet. 2015 Mar 20;8:18. doi: 10.1186/s13039-015-0120-0. eCollection 2015. Mol Cytogenet. 2015. PMID: 25821518 Free PMC article.
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.
Carella M, d'Adamo AP, Grootenboer-Mignot S, Vantyghem MC, Esposito L, D'Eustacchio A, Ficarella R, Stewart GW, Gasparini P, Delaunay J, Iolascon A. Carella M, et al. Among authors: gasparini p. Eur J Hum Genet. 2004 Dec;12(12):1073-6. doi: 10.1038/sj.ejhg.5201280. Eur J Hum Genet. 2004. PMID: 15470366
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
Coppola G, Criscuolo C, De Michele G, Striano S, Barbieri F, Striano P, Perretti A, Santoro L, Brescia Morra V, Saccà F, Scarano V, D'Adamo AP, Banfi S, Gasparini P, Santorelli FM, Lehesjoki AE, Filla A. Coppola G, et al. Among authors: gasparini p. J Neurol. 2005 Aug;252(8):897-900. doi: 10.1007/s00415-005-0766-3. Epub 2005 Mar 8. J Neurol. 2005. PMID: 15742102
Audiometric evaluation of carriers of the connexin 26 mutation 35delG.
Franzé A, Caravelli A, Di Leva F, Marciano E, Auletta G, D'Aulos F, Saulino C, Esposito L, Carella M, Gasparini P. Franzé A, et al. Among authors: gasparini p. Eur Arch Otorhinolaryngol. 2005 Nov;262(11):921-4. doi: 10.1007/s00405-005-0918-1. Epub 2005 May 14. Eur Arch Otorhinolaryngol. 2005. PMID: 15895291
Age-related hearing loss in four Italian genetic isolates: an epidemiological study.
Bedin E, Franzè A, Zadro C, Persico MG, Ciullo M, Hladnik U, Dolcetta D, Grasso DL, Riccardi P, Nutile T, Andrighetto G, D'Adamo P, Gasparini P, Marciano E. Bedin E, et al. Among authors: gasparini p. Int J Audiol. 2009;48(7):465-72. doi: 10.1080/14992020902822039. Int J Audiol. 2009. PMID: 19925333
Hearing function and thresholds: a genome-wide association study in European isolated populations identifies new loci and pathways.
Girotto G, Pirastu N, Sorice R, Biino G, Campbell H, d'Adamo AP, Hastie ND, Nutile T, Polasek O, Portas L, Rudan I, Ulivi S, Zemunik T, Wright AF, Ciullo M, Hayward C, Pirastu M, Gasparini P. Girotto G, et al. Among authors: gasparini p. J Med Genet. 2011 Jun;48(6):369-74. doi: 10.1136/jmg.2010.088310. Epub 2011 Apr 14. J Med Genet. 2011. PMID: 21493956
610 results