Gasparini P - Search Results

1

Genetic landscape of populations along the Silk Road: admixture and migration patterns.

Mezzavilla M, Vozzi D, Pirastu N, Girotto G, d'Adamo P, Gasparini P, Colonna V. Mezzavilla M, et al. Among authors: gasparini p. BMC Genet. 2014 Dec 5;15:131. doi: 10.1186/s12863-014-0131-6. BMC Genet. 2014. PMID: 25476266 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 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

5

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

6

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.

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

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

9

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.

10

Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage?

D'Adamo P, Guerci VI, Fabretto A, Faletra F, Grasso DL, Ronfani L, Montico M, Morgutti M, Guastalla P, Gasparini P. D'Adamo P, et al. Among authors: gasparini p. Eur J Hum Genet. 2009 Mar;17(3):284-6. doi: 10.1038/ejhg.2008.225. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050724 Free PMC article. No abstract available.

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