Gasparini P - Search Results

1

Linkage study and exome sequencing identify a BDP1 mutation associated with hereditary hearing loss.

Girotto G, Abdulhadi K, Buniello A, Vozzi D, Licastro D, d'Eustacchio A, Vuckovic D, Alkowari MK, Steel KP, Badii R, Gasparini P. Girotto G, et al. Among authors: gasparini p. PLoS One. 2013 Dec 2;8(12):e80323. doi: 10.1371/journal.pone.0080323. eCollection 2013. PLoS One. 2013. PMID: 24312468 Free PMC article. Clinical Trial.

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

An expression atlas of connexin genes in the mouse.

Buniello A, Montanaro D, Volinia S, Gasparini P, Marigo V. Buniello A, et al. Among authors: gasparini p. Genomics. 2004 May;83(5):812-20. doi: 10.1016/j.ygeno.2003.10.011. Genomics. 2004. PMID: 15081111

5

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

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

Microarray and large-scale in silico--based identification of genes functionally related to Haptoglobin and/or Hemopexin.

Fagoonee S, Di Cunto F, Vozzi D, Volinia S, Pellegrino M, Gasparini P, Silengo L, Altruda F, Tolosano E. Fagoonee S, et al. Among authors: gasparini p. DNA Cell Biol. 2006 Jun;25(6):323-30. doi: 10.1089/dna.2006.25.323. DNA Cell Biol. 2006. PMID: 16792502

8

Are MYO1C and MYO1F associated with hearing loss?

Zadro C, Alemanno MS, Bellacchio E, Ficarella R, Donaudy F, Melchionda S, Zelante L, Rabionet R, Hilgert N, Estivill X, Van Camp G, Gasparini P, Carella M. Zadro C, et al. Among authors: gasparini p. Biochim Biophys Acta. 2009 Jan;1792(1):27-32. doi: 10.1016/j.bbadis.2008.10.017. Epub 2008 Nov 5. Biochim Biophys Acta. 2009. PMID: 19027848 Free article.

9

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

10

Molecular epidemiology of Usher syndrome in Italy.

Vozzi D, Aaspõllu A, Athanasakis E, Berto A, Fabretto A, Licastro D, Külm M, Testa F, Trevisi P, Vahter M, Ziviello C, Martini A, Simonelli F, Banfi S, Gasparini P. Vozzi D, et al. Among authors: gasparini p. Mol Vis. 2011;17:1662-8. Epub 2011 Jun 22. Mol Vis. 2011. PMID: 21738395 Free PMC article.

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