D'Adamo AP - Search Results

1

A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss.

Faletra F, Girotto G, D'Adamo AP, Vozzi D, Morgan A, Gasparini P. Faletra F, et al. Gene. 2014 Jan 25;534(2):236-9. doi: 10.1016/j.gene.2013.10.052. Epub 2013 Nov 6. Gene. 2014. PMID: 24211385

2

Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family.

Piluso G, Carella M, D'Avanzo M, Santinelli R, Carrano EM, D'Avanzo A, D'Adamo AP, Gasparini P, Nigro V. Piluso G, et al. Hum Genet. 2003 Feb;112(2):124-30. doi: 10.1007/s00439-002-0863-7. Epub 2002 Nov 13. Hum Genet. 2003. PMID: 12522552

3

Autosomal dominant reticuloendothelial iron overload (HFE type 4) due to a new missense mutation in the FERROPORTIN 1 gene (SLC11A3) in a large French-Canadian family.

Rivard SR, Lanzara C, Grimard D, Carella M, Simard H, Ficarella R, Simard R, D'Adamo AP, De Braekeleer M, Gasparini P. Rivard SR, et al. Haematologica. 2003 Jul;88(7):824-6. Haematologica. 2003. PMID: 12857562 No abstract available.

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. Int J Audiol. 2003 Dec;42(8):475-80. doi: 10.3109/14992020309081517. Int J Audiol. 2003. PMID: 14658855

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. Eur J Hum Genet. 2004 Dec;12(12):1073-6. doi: 10.1038/sj.ejhg.5201280. Eur J Hum Genet. 2004. PMID: 15470366

6

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. J Neurol. 2005 Aug;252(8):897-900. doi: 10.1007/s00415-005-0766-3. Epub 2005 Mar 8. J Neurol. 2005. PMID: 15742102

7

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. 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

8

Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature.

Faletra F, D'Adamo AP, Santa Rocca M, Carrozzi M, Perrone MD, Pecile V, Gasparini P. Faletra F, et al. Am J Med Genet A. 2012 Feb;158A(2):461-4. doi: 10.1002/ajmg.a.34398. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140086 No abstract available.

9

A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family.

Faletra F, d'Adamo AP, Pensiero S, Athanasakis E, Catalano D, Bruno I, Gasparini P. Faletra F, et al. Ophthalmic Genet. 2013 Mar-Jun;34(1-2):115-7. doi: 10.3109/13816810.2012.707273. Epub 2012 Jul 30. Ophthalmic Genet. 2013. PMID: 22846113

10

Maps of open chromatin highlight cell type-restricted patterns of regulatory sequence variation at hematological trait loci.

Paul DS, Albers CA, Rendon A, Voss K, Stephens J; HaemGen Consortium; van der Harst P, Chambers JC, Soranzo N, Ouwehand WH, Deloukas P. Paul DS, et al. Genome Res. 2013 Jul;23(7):1130-41. doi: 10.1101/gr.155127.113. Epub 2013 Apr 9. Genome Res. 2013. PMID: 23570689 Free PMC article.

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