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Autore Titolo Tipo [ Anno(Asc)]
Filtri: Autore è Gasparini, Paolo  [Clear All Filters]
2014
Rubinato E, Morgan A, D'Eustacchio A, Pecile V, Gortani G, Gasparini P, Faletra F. A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta. Gene 2014;545(2):290-2.
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.
Perry JRB, Day F, Elks CE, Sulem P, Thompson DJ, Ferreira T, He C, Chasman DI, Esko T, Thorleifsson G, Albrecht E, Ang WQ, Corre T, Cousminer DL, Feenstra B, Franceschini N, Ganna A, Johnson AD, Kjellqvist S, Lunetta KL, McMahon G, Nolte IM, Paternoster L, Porcu E, Smith AV, Stolk L, Teumer A, Tšernikova N, Tikkanen E, Ulivi S, Wagner EK, Amin N, Bierut LJ, Byrne EM, Hottenga J-J, Koller DL, Mangino M, Pers TH, Yerges-Armstrong LM, Zhao JHua, Andrulis IL, Anton-Culver H, Atsma F, Bandinelli S, Beckmann MW, Benitez J, Blomqvist C, Bojesen SE, Bolla MK, Bonanni B, Brauch H, Brenner H, Buring JE, Chang-Claude J, Chanock S, Chen J, Chenevix-Trench G, J Collée M, Couch FJ, Couper D, Coviello AD, Cox A, Czene K, d'Adamo APio, Smith GDavey, De Vivo I, Demerath EW, Dennis J, Devilee P, Dieffenbach AK, Dunning AM, Eiriksdottir G, Eriksson JG, Fasching PA, Ferrucci L, Flesch-Janys D, Flyger H, Foroud T, Franke L, Garcia ME, García-Closas M, Geller F, de Geus EEJ, Giles GG, Gudbjartsson DF, Gudnason V, Guenel P, Guo S, Hall P, Hamann U, Haring R, Hartman CA, Heath AC, Hofman A, Hooning MJ, Hopper JL, Hu FB, Hunter DJ, Karasik D, Kiel DP, Knight JA, Kosma V-M, Kutalik Z, Lai S, Lambrechts D, Lindblom A, Mägi R, Magnusson PK, Mannermaa A, Martin NG, Masson G, McArdle PF, McArdle WL, Melbye M, Michailidou K, Mihailov E, Milani L, Milne RL, Nevanlinna H, Neven P, Nohr EA, Oldehinkel AJ, Oostra BA, Palotie A, Peacock M, Pedersen NL, Peterlongo P, Peto J, Pharoah PDP, Postma DS, Pouta A, Pylkäs K, Radice P, Ring S, Rivadeneira F, Robino A, Rose LM, Rudolph A, Salomaa V, Sanna S, Schlessinger D, Schmidt MK, Southey MC, Sovio U, Stampfer MJ, Stöckl D, Storniolo AM, Timpson NJ, Tyrer J, Visser JA, Vollenweider P, Völzke H, Waeber G, Waldenberger M, Wallaschofski H, Wang Q, Willemsen G, Winqvist R, Wolffenbuttel BHR, Wright MJ, Boomsma DI, Econs MJ, Khaw K-T, Loos RJF, McCarthy MI, Montgomery GW, Rice JP, Streeten EA, Thorsteinsdottir U, van Duijn CM, Alizadeh BZ, Bergmann S, Boerwinkle E, Boyd HA, Crisponi L, Gasparini P, Gieger C, Harris TB, Ingelsson E, Järvelin M-R, Kraft P, Lawlor D, Metspalu A, Pennell CE, Ridker PM, Snieder H, Sørensen TIA, Spector TD, Strachan DP, Uitterlinden AG, Wareham NJ, Widen E, Zygmunt M, Murray A, Easton DF, Stefansson K, Murabito JM, Ong KK. Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. Nature 2014;514(7520):92-7.
Robino A, Mezzavilla M, Pirastu N, Dognini M, Tepper BJ, Gasparini P. A population-based approach to study the impact of PROP perception on food liking in populations along the Silk Road. PLoS One 2014;9(3):e91716.
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 MPina, Cocca M, Spector TD, Gasparini P, Steel KP, Williams FMK. Salt-inducible kinase 3, SIK3, is a new gene associated with hearing. Hum Mol Genet 2014;23(23):6407-18.
2013
Köttgen A, Albrecht E, Teumer A, Vitart V, Krumsiek J, Hundertmark C, Pistis G, Ruggiero D, O'Seaghdha CM, Haller T, Yang Q, Tanaka T, Johnson AD, Kutalik Z, Smith AV, Shi J, Struchalin M, Middelberg RPS, Brown MJ, Gaffo AL, Pirastu N, Li G, Hayward C, Zemunik T, Huffman J, Yengo L, Zhao JHua, Demirkan A, Feitosa MF, Liu X, Malerba G, Lopez LM, van der Harst P, Li X, Kleber ME, Hicks AA, Nolte IM, Johansson Å, Murgia F, Wild SH, Bakker SJL, Peden JF, Dehghan A, Steri M, Tenesa A, Lagou V, Salo P, Mangino M, Rose LM, Lehtimäki T, Woodward OM, Okada Y, Tin A, Müller C, Oldmeadow C, Putku M, Czamara D, Kraft P, Frogheri L, Thun GAndri, Grotevendt A, Gislason GKjartan, Harris TB, Launer LJ, McArdle P, Shuldiner AR, Boerwinkle E, Coresh J, Schmidt H, Schallert M, Martin NG, Montgomery GW, Kubo M, Nakamura Y, Tanaka T, Munroe PB, Samani NJ, Jacobs DR, Liu K, d'Adamo P, Ulivi S, Rotter JI, Psaty BM, Vollenweider P, Waeber G, Campbell S, Devuyst O, Navarro P, Kolcic I, Hastie N, Balkau B, Froguel P, Esko T, Salumets A, Khaw KTee, Langenberg C, Wareham NJ, Isaacs A, Kraja A, Zhang Q, Wild PS, Scott RJ, Holliday EG, Org E, Viigimaa M, Bandinelli S, Metter JE, Lupo A, Trabetti E, Sorice R, Döring A, Lattka E, Strauch K, Theis F, Waldenberger M, Wichmann H-E, Davies G, Gow AJ, Bruinenberg M, Stolk RP, Kooner JS, Zhang W, Winkelmann BR, Boehm BO, Lucae S, Penninx BW, Smit JH, Curhan G, Mudgal P, Plenge RM, Portas L, Persico I, Kirin M, Wilson JF, Leach IMateo, van Gilst WH, Goel A, Ongen H, Hofman A, Rivadeneira F, Uitterlinden AG, Imboden M, von Eckardstein A, Cucca F, Nagaraja R, Piras MGrazia, Nauck M, Schurmann C, Budde K, Ernst F, Farrington SM, Theodoratou E, Prokopenko I, Stumvoll M, Jula A, Perola M, Salomaa V, Shin S-Y, Spector TD, Sala C, Ridker PM, Kähönen M, Viikari J, Hengstenberg C, Nelson CP, Meschia JF, Nalls MA, Sharma P, Singleton AB, Kamatani N, Zeller T, Burnier M, Attia J, Laan M, Klopp N, Hillege HL, Kloiber S, Choi H, Pirastu M, Tore S, Probst-Hensch NM, Völzke H, Gudnason V, Parsa A, Schmidt R, Whitfield JB, Fornage M, Gasparini P, Siscovick DS, Polasek O, Campbell H, Rudan I, Bouatia-Naji N, Metspalu A, Loos RJF, van Duijn CM, Borecki IB, Ferrucci L, Gambaro G, Deary IJ, Wolffenbuttel BHR, Chambers JC, März W, Pramstaller PP, Snieder H, Gyllensten U, Wright AF, Navis G, Watkins H, Witteman JCM, Sanna S, Schipf S, Dunlop MG, Tönjes A, Ripatti S, Soranzo N, Toniolo D, Chasman DI, Raitakari O, Kao WHLinda, Ciullo M, Fox CS, Caulfield M, Bochud M, Gieger C. Genome-wide association analyses identify 18 new loci associated with serum urate concentrations. Nat Genet 2013;45(2):145-54.
Faletra F, d'Adamo APio, Pensiero S, Athanasakis E, Catalano D, Bruno I, Gasparini P. A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family. Ophthalmic Genet 2013;34(1-2):115-7.
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.
Fabretto A, Rocca MSanta, Perrone MDolores, Skabar A, Pecile V, Gasparini P. De novo 6.9 Mb interstitial deletion on chromosome 4q31.1-q32.1 in a girl with severe speech delay and dysmorphic features. Am J Med Genet A 2012;158A(4):882-7.
Minen F, Cont G, De Cunto A, Martelossi S, Ventura A, Maggiore G, Faletra F, Gasparini P, Cassandrini D. Delayed diagnosis of glycogen storage disease type III. J Pediatr Gastroenterol Nutr 2012;54(1):122-4.
Faletra F, d'Adamo APio, Rocca MSanta, Carrozzi M, Perrone MDolores, Pecile V, Gasparini P. Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. Am J Med Genet A 2012;158A(2):461-4.
McQuillan R, Eklund N, Pirastu N, Kuningas M, McEvoy BP, Esko T, Corre T, Davies G, Kaakinen M, Lyytikäinen L-P, Kristiansson K, Havulinna AS, Gögele M, Vitart V, Tenesa A, Aulchenko, ii Y, Hayward C, Johansson Å, Boban M, Ulivi S, Robino A, Boraska V, Igl W, Wild SH, Zgaga L, Amin N, Theodoratou E, Polasek O, Girotto G, Lopez LM, Sala C, Lahti J, Laatikainen T, Prokopenko I, Kals M, Viikari J, Yang J, Pouta A, Estrada K, Hofman A, Freimer N, Martin NG, Kähönen M, Milani L, Heliövaara M, Vartiainen E, Räikkönen K, Masciullo C, Starr JM, Hicks AA, Esposito L, Kolcic I, Farrington SM, Oostra B, Zemunik T, Campbell H, Kirin M, Pehlic M, Faletra F, Porteous D, Pistis G, Widen E, Salomaa V, Koskinen S, Fischer K, Lehtimäki T, Heath A, McCarthy MI, Rivadeneira F, Montgomery GW, Tiemeier H, Hartikainen A-L, Madden PAF, d'Adamo P, Hastie ND, Gyllensten U, Wright AF, van Duijn CM, Dunlop M, Rudan I, Gasparini P, Pramstaller PP, Deary IJ, Toniolo D, Eriksson JG, Jula A, Raitakari OT, Metspalu A, Perola M, Järvelin M-R, Uitterlinden A, Visscher PM, Wilson JF. Evidence of inbreeding depression on human height. PLoS Genet 2012;8(7):e1002655.

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