Gasparini P - Search Results

1

Association analysis of bitter receptor genes in five isolated populations identifies a significant correlation between TAS2R43 variants and coffee liking.

Pirastu N, Kooyman M, Traglia M, Robino A, Willems SM, Pistis G, d'Adamo P, Amin N, d'Eustacchio A, Navarini L, Sala C, Karssen LC, van Duijn C, Toniolo D, Gasparini P. Pirastu N, et al. Among authors: gasparini p. PLoS One. 2014 Mar 19;9(3):e92065. doi: 10.1371/journal.pone.0092065. eCollection 2014. PLoS One. 2014. PMID: 24647340 Free PMC article.

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

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

A novel GJA1 mutation causes oculodentodigital dysplasia without syndactyly.

Vitiello C, D'Adamo P, Gentile F, Vingolo EM, Gasparini P, Banfi S. Vitiello C, et al. Among authors: gasparini p. Am J Med Genet A. 2005 Feb 15;133A(1):58-60. doi: 10.1002/ajmg.a.30554. Am J Med Genet A. 2005. PMID: 15637728

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

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.

8

Variation in the bitter-taste receptor gene TAS2R38, and adiposity in a genetically isolated population in Southern Italy.

Tepper BJ, Koelliker Y, Zhao L, Ullrich NV, Lanzara C, d'Adamo P, Ferrara A, Ulivi S, Esposito L, Gasparini P. Tepper BJ, et al. Among authors: gasparini p. Obesity (Silver Spring). 2008 Oct;16(10):2289-95. doi: 10.1038/oby.2008.357. Epub 2008 Jul 24. Obesity (Silver Spring). 2008. PMID: 18719631 Free article.

9

Metabonomics and population studies: age-related amino acids excretion and inferring networks through the study of urine samples in two Italian isolated populations.

D'Adamo P, Ulivi S, Beneduci A, Pontoni G, Capasso G, Lanzara C, Andrighetto G, Hladnik U, Nunes V, Palacin M, Gasparini P. D'Adamo P, et al. Among authors: gasparini p. Amino Acids. 2010 Jan;38(1):65-73. doi: 10.1007/s00726-008-0205-8. Epub 2008 Dec 9. Amino Acids. 2010. PMID: 19067108

10

Detection of epidermal thickening in GJB2 carriers with epidermal US.

Guastalla P, Guerci VI, Fabretto A, Faletra F, Grasso DL, Zocconi E, Stefanidou D, D'Adamo P, Ronfani L, Montico M, Morgutti M, Gasparini P. Guastalla P, et al. Among authors: gasparini p. Radiology. 2009 Apr;251(1):280-6. doi: 10.1148/radiol.2511080912. Epub 2009 Feb 3. Radiology. 2009. PMID: 19190252

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