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Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity.
Esko T, Mezzavilla M, Nelis M, Borel C, Debniak T, Jakkula E, Julia A, Karachanak S, Khrunin A, Kisfali P, Krulisova V, Aušrelé Kučinskiené Z, Rehnström K, Traglia M, Nikitina-Zake L, Zimprich F, Antonarakis SE, Estivill X, Glavač D, Gut I, Klovins J, Krawczak M, Kučinskas V, Lathrop M, Macek M, Marsal S, Meitinger T, Melegh B, Limborska S, Lubinski J, Paolotie A, Schreiber S, Toncheva D, Toniolo D, Wichmann HE, Zimprich A, Metspalu M, Gasparini P, Metspalu A, D'Adamo P. Esko T, et al. Among authors: gasparini p. Eur J Hum Genet. 2013 Jun;21(6):659-65. doi: 10.1038/ejhg.2012.229. Epub 2012 Dec 19. Eur J Hum Genet. 2013. PMID: 23249956 Free PMC article.
Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis.
Olden M, Corre T, Hayward C, Toniolo D, Ulivi S, Gasparini P, Pistis G, Hwang SJ, Bergmann S, Campbell H, Cocca M, Gandin I, Girotto G, Glaudemans B, Hastie ND, Loffing J, Polasek O, Rampoldi L, Rudan I, Sala C, Traglia M, Vollenweider P, Vuckovic D, Youhanna S, Weber J, Wright AF, Kutalik Z, Bochud M, Fox CS, Devuyst O. Olden M, et al. Among authors: gasparini p. J Am Soc Nephrol. 2014 Aug;25(8):1869-82. doi: 10.1681/ASN.2013070781. Epub 2014 Feb 27. J Am Soc Nephrol. 2014. PMID: 24578125 Free PMC article.
Insight into genetic determinants of resting heart rate.
Mezzavilla M, Iorio A, Bobbo M, D'Eustacchio A, Merlo M, Gasparini P, Ulivi S, Sinagra G. Mezzavilla M, et al. Among authors: gasparini p. Gene. 2014 Jul 15;545(1):170-4. doi: 10.1016/j.gene.2014.03.045. Epub 2014 Mar 25. Gene. 2014. PMID: 24680774
A general approach for haplotype phasing across the full spectrum of relatedness.
O'Connell J, Gurdasani D, Delaneau O, Pirastu N, Ulivi S, Cocca M, Traglia M, Huang J, Huffman JE, Rudan I, McQuillan R, Fraser RM, Campbell H, Polasek O, Asiki G, Ekoru K, Hayward C, Wright AF, Vitart V, Navarro P, Zagury JF, Wilson JF, Toniolo D, Gasparini P, Soranzo N, Sandhu MS, Marchini J. O'Connell J, et al. Among authors: gasparini p. PLoS Genet. 2014 Apr 17;10(4):e1004234. doi: 10.1371/journal.pgen.1004234. eCollection 2014 Apr. PLoS Genet. 2014. PMID: 24743097 Free PMC article.
Consanguinity and hereditary hearing loss in Qatar.
Girotto G, Mezzavilla M, Abdulhadi K, Vuckovic D, Vozzi D, Khalifa Alkowari M, Gasparini P, Badii R. Girotto G, et al. Among authors: gasparini p. Hum Hered. 2014;77(1-4):175-82. doi: 10.1159/000360475. Epub 2014 Jul 29. Hum Hered. 2014. PMID: 25060281 Free article. Review.
Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.
Wolber LE, Girotto G, Buniello A, Vuckovic D, Pirastu N, Lorente-Cánovas B, Rudan I, Hayward C, Polasek O, Ciullo M, Mangino M, Steves C, Concas MP, Cocca M, Spector TD, Gasparini P, Steel KP, Williams FM. Wolber LE, et al. Among authors: gasparini p. Hum Mol Genet. 2014 Dec 1;23(23):6407-18. doi: 10.1093/hmg/ddu346. Epub 2014 Jul 24. Hum Mol Genet. 2014. PMID: 25060954 Free PMC article.
606 results