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2014
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.
Pastore S, Paloni G, Caorsi R, Ronfani L, Taddio A, Lepore L. Serum amyloid protein A concentration in cryopyrin-associated periodic syndromes patients treated with interleukin-1 beta antagonist. Clin Exp Rheumatol 2014;32(4 Suppl 84):S63-6.
Naviglio S, Arrigo S, Martelossi S, Villanacci V, Tommasini A, Loganes C, Fabretto A, Vignola S, Lonardi S, Ventura A. Severe inflammatory bowel disease associated with congenital alteration of transforming growth factor beta signaling. J Crohns Colitis 2014;8(8):770-4.
Naviglio S, Arrigo S, Martelossi S, Villanacci V, Tommasini A, Loganes C, Fabretto A, Vignola S, Lonardi S, Ventura A. Severe inflammatory bowel disease associated with congenital alteration of transforming growth factor beta signaling. J Crohns Colitis 2014;8(8):770-4.
Travan L, Lega S, Crovella S, Montico M, Panontin E, Demarini S. Severe neonatal hyperbilirubinemia and UGT1A1 promoter polymorphism. J Pediatr 2014;165(1):42-5.
Lenarduzzi S, Morgutti M, Crovella S, Coiana A, Rosatelli MC. Short communication: novel truncating mutations in the CFTR gene causing a severe form of cystic fibrosis in Italian patients. Genet Mol Res 2014;13(4):9636-41.
Zauli G, Celeghini C, Monasta L, Martinelli M, Luppi S, Gonelli A, Grill V, Ricci G, Secchiero P. Soluble TRAIL is present at high concentrations in seminal plasma and promotes spermatozoa survival. Reproduction 2014;148(2):191-8.
Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp M-C, Alessi M-C, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux M-F, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014;35(9):1033-45.
Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp M-C, Alessi M-C, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux M-F, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014;35(9):1033-45.
Savoia A, Kunishima S, De Rocco D, Zieger B, Rand ML, Pujol-Moix N, Caliskan U, Tokgoz H, Pecci A, Noris P, Srivastava A, Ward C, Morel-Kopp M-C, Alessi M-C, Bellucci S, Beurrier P, de Maistre E, Favier R, Hézard N, Hurtaud-Roux M-F, Latger-Cannard V, Lavenu-Bombled C, Proulle V, Meunier S, Négrier C, Nurden A, Randrianaivo H, Fabris F, Platokouki H, Rosenberg N, HadjKacem B, Heller PG, Karimi M, Balduini CL, Pastore A, Lanza F. Spectrum of the mutations in Bernard-Soulier syndrome. Hum Mutat 2014;35(9):1033-45.
Zennaro F, Grosso D, Fascetta R, Marini M, Odoni L, Di Carlo V, Dibello D, Vittoria F, Lazzerini M. Teleradiology for remote consultation using iPad improves the use of health system human resources for paediatric fractures: prospective controlled study in a tertiary care hospital in Italy. BMC Health Serv Res 2014;14:327.
Keller MF, Reiner AP, Okada Y, van Rooij FJA, Johnson AD, Chen M-H, Smith AV, Morris AP, Tanaka T, Ferrucci L, Zonderman AB, Lettre G, Harris T, Garcia M, Bandinelli S, Qayyum R, Yanek LR, Becker DM, Becker LC, Kooperberg C, Keating B, Reis J, Tang H, Boerwinkle E, Kamatani Y, Matsuda K, Kamatani N, Nakamura Y, Kubo M, Liu S, Dehghan A, Felix JF, Hofman A, Uitterlinden AG, van Duijn CM, Franco OH, Longo DL, Singleton AB, Psaty BM, Evans MK, L Cupples A, Rotter JI, O'Donnell CJ, Takahashi A, Wilson JG, Ganesh SK, Nalls MA. Trans-ethnic meta-analysis of white blood cell phenotypes. Hum Mol Genet 2014;23(25):6944-60.

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