Gasparini P - Search Results

1

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

2

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.

Donaudy F, Ferrara A, Esposito L, Hertzano R, Ben-David O, Bell RE, Melchionda S, Zelante L, Avraham KB, Gasparini P. Donaudy F, et al. Among authors: gasparini p. Am J Hum Genet. 2003 Jun;72(6):1571-7. doi: 10.1086/375654. Epub 2003 May 6. Am J Hum Genet. 2003. PMID: 12736868 Free PMC article.

3

Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).

Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nürnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A. Donaudy F, et al. Among authors: gasparini p. Am J Hum Genet. 2004 Apr;74(4):770-6. doi: 10.1086/383285. Epub 2004 Mar 10. Am J Hum Genet. 2004. PMID: 15015131 Free PMC article.

4

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

5

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

6

TBL1Y: a new gene involved in syndromic hearing loss.

Di Stazio M, Collesi C, Vozzi D, Liu W, Myers M, Morgan A, D Adamo PA, Girotto G, Rubinato E, Giacca M, Gasparini P. Di Stazio M, et al. Among authors: gasparini p. Eur J Hum Genet. 2019 Mar;27(3):466-474. doi: 10.1038/s41431-018-0282-4. Epub 2018 Oct 19. Eur J Hum Genet. 2019. PMID: 30341416 Free PMC article.

7

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

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

Association of a variant in the CHRNA5-A3-B4 gene cluster region to heavy smoking in the Italian population.

Sorice R, Bione S, Sansanelli S, Ulivi S, Athanasakis E, Lanzara C, Nutile T, Sala C, Camaschella C, D'Adamo P, Gasparini P, Ciullo M, Toniolo D. Sorice R, et al. Among authors: gasparini p. Eur J Hum Genet. 2011 May;19(5):593-6. doi: 10.1038/ejhg.2010.240. Epub 2011 Jan 19. Eur J Hum Genet. 2011. PMID: 21248747 Free PMC article.

10

Localization of the congenital dyserythropoietic anemia II locus to chromosome 20q11.2 by genomewide search.

Gasparini P, Miraglia del Giudice E, Delaunay J, Totaro A, Granatiero M, Melchionda S, Zelante L, Iolascon A. Gasparini P, et al. Am J Hum Genet. 1997 Nov;61(5):1112-6. doi: 10.1086/301609. Am J Hum Genet. 1997. PMID: 9345103 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

608 results

Search Page