Gasparini P - Search Results

1

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

2

A novel autosomal dominant non-syndromic deafness locus (DFNA48) maps to 12q13-q14 in a large Italian family.

D'Adamo P, Pinna M, Capobianco S, Cesarani A, D'Eustacchio A, Fogu P, Carella M, Seri M, Gasparini P. D'Adamo P, et al. Among authors: gasparini p. Hum Genet. 2003 Mar;112(3):319-20. doi: 10.1007/s00439-002-0880-6. Epub 2002 Dec 13. Hum Genet. 2003. PMID: 12596055

3

A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family.

D'Adamo P, Donaudy F, D'Eustacchio A, Di Iorio E, Melchionda S, Gasparini P. D'Adamo P, et al. Among authors: gasparini p. Eur J Hum Genet. 2003 Feb;11(2):121-4. doi: 10.1038/sj.ejhg.5200929. Eur J Hum Genet. 2003. PMID: 12634859

4

Otosclerosis: exclusion of linkage to the OTSC1 and OTSC2 loci in four Italian families.

Di Leva F, D'Adamo AP, Strollo L, Auletta G, Caravelli A, Carella M, Mari F, Livi W, Renieri A, Gasparini P, D'Urso M, Marciano E, Franzé A. Di Leva F, et al. Among authors: gasparini p. Int J Audiol. 2003 Dec;42(8):475-80. doi: 10.3109/14992020309081517. Int J Audiol. 2003. PMID: 14658855

5

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

6

Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).

Di Leva F, D'Adamo P, Cubellis MV, D'Eustacchio A, Errichiello M, Saulino C, Auletta G, Giannini P, Donaudy F, Ciccodicola A, Gasparini P, Franzè A, Marciano E. Di Leva F, et al. Among authors: gasparini p. Audiol Neurootol. 2006;11(3):157-64. doi: 10.1159/000091199. Epub 2006 Jan 9. Audiol Neurootol. 2006. PMID: 16449806

7

Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase.

Massa V, Fernandez-Vizarra E, Alshahwan S, Bakhsh E, Goffrini P, Ferrero I, Mereghetti P, D'Adamo P, Gasparini P, Zeviani M. Massa V, et al. Among authors: gasparini p. Am J Hum Genet. 2008 Jun;82(6):1281-9. doi: 10.1016/j.ajhg.2008.05.002. Epub 2008 May 22. Am J Hum Genet. 2008. PMID: 18499082 Free PMC article.

8

Variation of hemoglobin levels in normal Italian populations from genetic isolates.

Sala C, Ciullo M, Lanzara C, Nutile T, Bione S, Massacane R, d'Adamo P, Gasparini P, Toniolo D, Camaschella C. Sala C, et al. Among authors: gasparini p. Haematologica. 2008 Sep;93(9):1372-5. doi: 10.3324/haematol.12915. Epub 2008 Jul 4. Haematologica. 2008. PMID: 18603552 Free article.

9

Cohen syndrome resulting from a novel large intragenic COH1 deletion segregating in an isolated Greek island population.

Bugiani M, Gyftodimou Y, Tsimpouka P, Lamantea E, Katzaki E, d'Adamo P, Nakou S, Georgoudi N, Grigoriadou M, Tsina E, Kabolis N, Milani D, Pandelia E, Kokotas H, Gasparini P, Giannoulia-Karantana A, Renieri A, Zeviani M, Petersen MB. Bugiani M, et al. Among authors: gasparini p. Am J Med Genet A. 2008 Sep 1;146A(17):2221-6. doi: 10.1002/ajmg.a.32239. Am J Med Genet A. 2008. PMID: 18655112

10

FASTKD2 nonsense mutation in an infantile mitochondrial encephalomyopathy associated with cytochrome c oxidase deficiency.

Ghezzi D, Saada A, D'Adamo P, Fernandez-Vizarra E, Gasparini P, Tiranti V, Elpeleg O, Zeviani M. Ghezzi D, et al. Among authors: gasparini p. Am J Hum Genet. 2008 Sep;83(3):415-23. doi: 10.1016/j.ajhg.2008.08.009. Epub 2008 Sep 4. Am J Hum Genet. 2008. PMID: 18771761 Free PMC article.

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