Export 22 results:
Autore Titolo Tipo [ Anno(Asc)]
Filtri: Autore è Vozzi, Diego  [Clear All Filters]
2015
Lunetta KL, Day FR, Sulem P, Ruth KS, Tung JY, Hinds DA, Esko T, Elks CE, Altmaier E, He C, Huffman JE, Mihailov E, Porcu E, Robino A, Rose LM, Schick UM, Stolk L, Teumer A, Thompson DJ, Traglia M, Wang CA, Yerges-Armstrong LM, Antoniou AC, Barbieri C, Coviello AD, Cucca F, Demerath EW, Dunning AM, Gandin I, Grove ML, Gudbjartsson DF, Hocking LJ, Hofman A, Huang J, Jackson RD, Karasik D, Kriebel J, Lange EM, Lange LA, Langenberg C, Li X, Luan J'an, Mägi R, Morrison AC, Padmanabhan S, Pirie A, Polasek O, Porteous D, Reiner AP, Rivadeneira F, Rudan I, Sala CF, Schlessinger D, Scott RA, Stöckl D, Visser JA, Völker U, Vozzi D, Wilson JG, Zygmunt M, Boerwinkle E, Buring JE, Crisponi L, Easton DF, Hayward C, Hu FB, Liu S, Metspalu A, Pennell CE, Ridker PM, Strauch K, Streeten EA, Toniolo D, Uitterlinden AG, Ulivi S, Völzke H, Wareham NJ, Wellons M, Franceschini N, Chasman DI, Thorsteinsdottir U, Murray A, Stefansson K, Murabito JM, Ong KK, Perry JRB. Rare coding variants and X-linked loci associated with age at menarche. Nat Commun 2015;6:7756.
Morgan A, Gandin I, Belcaro C, Palumbo P, Palumbo O, Biamino E, Dal Col V, Laurini E, Pricl S, Bosco P, Carella M, Ferrero GBattista, Romano C, d'Adamo APio, Faletra F, Vozzi D. Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability. Mutat Res 2015;781:32-6.
Bianco AMonica, Faletra F, Vozzi D, Girardelli M, Knowles A, Tommasini A, Zauli G, Marcuzzi A. Two‑gene mutation in a single patient: Biochemical and functional analysis for a correct interpretation of exome results. Mol Med Rep 2015;12(4):6128-32.
2014
Girotto G, Mezzavilla M, Abdulhadi K, Vuckovic D, Vozzi D, Alkowari MKhalifa, Gasparini P, Badii R. Consanguinity and hereditary hearing loss in Qatar. Hum Hered 2014;77(1-4):175-82.
Mezzavilla M, Vozzi D, Pirastu N, Girotto G, d'Adamo P, Gasparini P, Colonna V. Genetic landscape of populations along the Silk Road: admixture and migration patterns. BMC Genet 2014;15:131.
Bianco AMonica, Girardelli M, Vozzi D, Crovella S, Kleiner G, Marcuzzi A. Mevalonate kinase deficiency and IBD: shared genetic background. Gut 2014;63(8):1367-8.
Athanasakis E, Licastro D, Faletra F, Fabretto A, Dipresa S, Vozzi D, Morgan A, d'Adamo AP, Pecile V, Biarnés X, Gasparini P. Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. Am J Med Genet A 2014;164A(1):170-6.
Faletra F, Girotto G, d'Adamo APio, Vozzi D, Morgan A, Gasparini P. A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss. Gene 2014;534(2):236-9.
Athanasakis E, Melloni E, Rigolin GMatteo, Agnoletto C, Voltan R, Vozzi D, Piscianz E, Segat L, dal Monego S, Cuneo A, Secchiero P, Zauli G. The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias. Oncotarget 2014;5(24):12635-45.
2012
Licastro D, Mutarelli M, Peluso I, Neveling K, Wieskamp N, Rispoli R, Vozzi D, Athanasakis E, D'Eustacchio A, Pizzo M, D'Amico F, Ziviello C, Simonelli F, Fabretto A, Scheffer H, Gasparini P, Banfi S, Nigro V. Molecular diagnosis of Usher syndrome: application of two different next generation sequencing-based procedures. PLoS One 2012;7(8):e43799.

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