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Autore Titolo Tipo [ Anno(Asc)]
Filtri: Autore è Gasparini, Paolo and First Letter Of Title is C  [Clear All Filters]
2018
Fetoni ARita, Zorzi V, Paciello F, Ziraldo G, Peres C, Raspa M, Scavizzi F, Salvatore AMaria, Crispino G, Tognola G, Gentile G, Spampinato AGianmaria, Cuccaro D, Guarnaccia M, Morello G, Van Camp G, Fransen E, Brumat M, Girotto G, Paludetti G, Gasparini P, Cavallaro S, Mammano F. Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway. Redox Biol 2018;19:301-317.
2017
Corre T, Olinger E, Harris SE, Traglia M, Ulivi S, Lenarduzzi S, Belge H, Youhanna S, Tokonami N, Bonny O, Houillier P, Polasek O, Deary IJ, Starr JM, Toniolo D, Gasparini P, Vollenweider P, Hayward C, Bochud M, Devuyst O. Common variants in CLDN14 are associated with differential excretion of magnesium over calcium in urine. Pflugers Arch 2017;469(1):91-103.
2015
Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C, Silengo MCirillo, Sorasio L, Curtisova V, Cavaliere MLuigia, Prontera P, Stangoni G, Ferrero GBattista, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A, Finelli P, Larizza L, Gervasini C. Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. Hum Genet 2015;134(6):613-26.
Vuckovic D, Dallapiccola B, Franzè A, Mauri L, Perrone MDolores, Gasparini P. Connexin 26 variant carriers have a better gastrointestinal health: is this the heterozygote advantage?. Eur J Hum Genet 2015;23(5):563-4.
2014
Olden M, Corre T, Hayward C, Toniolo D, Ulivi S, Gasparini P, Pistis G, Hwang S-J, 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. Common variants in UMOD associate with urinary uromodulin levels: a meta-analysis. J Am Soc Nephrol 2014;25(8):1869-82.
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.
2012
Rocca MSanta, Fabretto A, Faletra F, Carlet O, Skabar A, Gasparini P, Pecile V. Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12. Gene 2012;492(1):315-8.
2010
Fabretto A, Shardlow A, Faletra F, Lepore L, Hladnik U, Gasparini P. A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation. Ophthalmic Genet 2010;31(2):98-100.

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