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Sfoglia per ???browse.type.metadata.subjectErc2011???  LS2_9 - Genetic epidemiology

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Data di pubblicazione Titolo Autore(i) File
1-gen-2013 Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene Tasca, Giorgio; Moro, F; Aiello, C; Cassandrini, D; Fiorillo, C; Bertini, E; Bruno, C; Santorelli, Fm; Ricci, Enzo
1-gen-2010 Long time no see: the type and contre-type concept Neri, Giovanni; Di Raimo, Francesca Romana
1-gen-2007 Loss-of-Function Mutations in the Cardiac Calcium Channel Underlie a New Clinical entity characterized by ST-segment elevation, short QT interval and sudden cardiac death Antzelevitch, C; Pollevick, G; Cordeiro, Jm; Casis, O; Sangiunetti, M; Aizawa, Y; Guerchicoff, F; Pfeiffer, R; Oliva, Antonio; Wollnik, B; Gelber, P; Bonaros, E; Burashnicov, E; Wu, Yuesheng; Sargent, J; Schikel, S; Oberhaiden, R; Bhatia, A; Hsu, L; Haïssaguerre, M; Schimpf, R; Borggrefe, M; Wolpert, C.
1-gen-2014 Mannose-Binding Lectin Codon 54 Gene Polymorphism and Vulvovaginal Candidiasis: A Systematic Review and Meta-Analysis Nedovic, B; Posteraro, Brunella; Leoncini, Emanuele; Ruggeri, Alberto; Amore, Rosarita; Sanguinetti, Maurizio; Ricciardi, Walter; Boccia, Stefania
1-gen-2007 Mannose-binding lectin polymorphism and pulmonary outcome in premature neonates: a pilot study Capoluongo, E.; Vento, Giovanni; Rocchetti, S.; Giardina, E.; Concolino, P.; Sinibaldi, C.; Santonocito, Concetta; Vendettuoli, Valentina; Tana, Milena; Tirone, C.; Zuppi, Cecilia; Romagnoli, Costantino; Novelli, G.; Giardina, Bruno; Ameglio, F.
1-gen-2015 Meiotic and pedigree segregation analyses in carriers of t(4;8)(p16;p23.1) differing in localization of breakpoint positions at 4p subband 4p16.3 and 4p16.1 Midro, At; Zollino, Marcella; Wiland, E; Panasiuk, B; Iwanowski, Ps; Murdolo, Marina; Śmigiel, R; Sąsiadek, M; Pilch, J; Kurpisz, M.
1-gen-2008 Meta- and pooled analyses of the Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and gastric cancer risk: a HuGE-GSEC Review. Boccia, Stefania; Hung, Rj; Ricciardi, Walter; Gianfagna, Francesco; Ebert, Mpa; Fang, Jy; Gao, Cm; Gotze, T; Graziano, F; Lacasana Navarro, M; Lin, D; Lopez Carrillo, L; Qiao, Yl; Shen, H; Weng, Yr; Zhang, Ff; Van Duijn, Cornelia M; Boffetta, P; Taioli, T.
1-gen-2009 Meta-analyses of the methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and risk of head and neck and lung cancer Boccia, Stefania; Boffetta, Paolo; Brennan, Paul; Ricciardi, Walter; Gianfagna, Francesco; Matsuo, Keitaro; Van Duijn, Cornelia M; J. Hung, Rayjean
1-gen-2017 “Minimal” holoprosencephaly in a 14q deletion syndrome patient Della Giustina, Elvio; Iodice, Alessandro; Spagnoli, Carlotta; Giovannini, Simona; Frattini, Daniele; Fusco, Carlo; Gobbi, Giuseppe; Zollino, Marcella; Neri, Giovanni
1-gen-2009 A missense mutation in CASK causes FG syndrome in an Italian family. Neri, Giovanni; Piluso, G.; D'Amico, F.; Saccone, V.; Bismuto, E.; Rotundo, Il; Di Domenico, M.; Aurino, S.; Schwartz, C. E.; Nigro, V.
1-gen-2015 [Molecular epidemiology in healthcare-associated infections: guidelines of the Italian Society of Hygiene, Preventive Medicine and Public Health (SItI)] Boccia, Stefania; Agodi, Antonella; Barchitta, M; Colotto, Marco; Ianuale, Carolina; Quattrocchi, Andrea
1-gen-1983 Morbo di Hodgkin familiare: considerazioni su due famiglie in cui la malattia ha interessato padre e figlio Marietti, Giovanni; Riccardi, Riccardo; Reali, Laura; De Carolis, Maria Pia; Corbo, Serena; Rumi, Carlo; Ginfelice, M.
1-gen-2009 Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome Neri, Giovanni
1-gen-2009 Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome. Neri, Giovanni; Neuman, T. E; Allanson, Judith; Kavamura, Ines; Kerr, B; Noonan, J; Cordeddu, V; Gibson, K.; Tzschach, A.; Kruger, G.; Goecke, T. O.; Kehl, H. G.; Albrecht, B.; Luczak, K.; Musiante, L.; Laurie, R.; Peters, H.; Tarataglia, M.; Zenker, M.
1-gen-2009 MUTATION OF SHOC2 PROMOTES ABERRANT PROTEIN N-MYRISTOYLATION AND CAUSES NOONAN-LIKE SUNDROME WITH LOOSE ANAGEN HAIR. Cordeddu, V; Di Schiavi, E; Zampino, Giuseppe; Dallapiccola, Bruno; Gelb, Bd; Tartaglia, Marco
1-gen-2014 Mutations in the Matrin 3 gene cause familial amyotrophic lateral sclerosis Johnson, Jo; Pioro, Ep; Boehringer, A; Chia, R; Feit, H; Renton, Ae; Pliner, Ha; Abramzon, Y; Marangi, Giuseppe; Winborn, Bj; Gibbs, Jr; Nalls, Ma; Morgan, S; Shoai, M; Hardy, J; Pittman, A; Orrell, Rw; Malaspina, A; Sidle, Kc; Fratta, P; Harms, Mb; Baloh, Rh; Pestronk, A; Weihl, Cc; Rogaeva, E; Zinman, L; Drory, Ve; Borghero, G; Mora, G; Calvo, A; Rothstein, Jd; Drepper, C; Sendtner, M; Singleton, Ab; Taylor, Jp; Cookson, Mr; Restagno, G; Sabatelli, Mario; Bowser, R; Chiò, A; Traynor, Bj; Conte, Amelia; Luigetti, Marco; Zollino, Marcella; Lattante, Serena
1-gen-2013 MUTYH-associated polyposis (MAP): evidence for the origin of the common European mutations p.Tyr179Cys and p.Gly396Asp by founder events Aretz, S; Tricarico, R; Papi, L; Spier, I; Pin, E; Horpaopan, S; Lucci Cordisco, Emanuela; Pedroni, M; Stienen, D; Gentile, A; Panza, A; Piepoli, A; De Leon, Mp; Friedl, W; Viel, A; Genuardi, Maurizio
1-gen-2015 Novel de novo heterozygous loss-of-function variants in MED13L and further delineation of the MED13L haploinsufficiency syndrome Cafiero, C; Marangi, Giuseppe; Orteschi, Daniela; Ali, M; Asaro, Alessia; Ponzi, Emanuela; Moncada, Alice; Ricciardi, Stefania; Murdolo, Marina; Mancano, Giorgia; Contaldo, Ilaria; Leuzzi, V; Battaglia, Domenica Immacolata; Mercuri, Eugenio Maria; Slavotinek, Am; Zollino, Marcella
1-gen-2020 De novo SMARCA2 variants clustered outside the helicase domain cause a new recognizable syndrome with intellectual disability and blepharophimosis distinct from Nicolaides–Baraitser syndrome Cappuccio, G.; Sayou, C.; Tanno, P. L.; Tisserant, E.; Bruel, A. -L.; Kennani, S. E.; Sa, J.; Low, K. J.; Dias, C.; Havlovicova, M.; Hancarova, M.; Eichler, E. E.; Devillard, F.; Moutton, S.; Van-Gils, J.; Dubourg, C.; Odent, S.; Gerard, B.; Piton, A.; Yamamoto, T.; Okamoto, N.; Firth, H.; Metcalfe, K.; Moh, A.; Chapman, K. A.; Aref-Eshghi, E.; Kerkhof, J.; Torella, A.; Nigro, V.; Perrin, L.; Piard, J.; Le Guyader, G.; Jouan, T.; Thauvin-Robinet, C.; Duffourd, Y.; George-Abraham, J. K.; Buchanan, C. A.; Williams, D.; Kini, U.; Wilson, K.; Nigro, V.; Brunetti-Pierri, N.; Casari, G.; Cappuccio, G.; Torella, A.; Pinelli, M.; Musacchia, F.; Mutarelli, M.; Carrella, D.; Vitiello, G.; Capra, V.; Parenti, G.; Leuzzi, V.; Selicorni, A.; Maitz, S.; Banfi, S.; Zollino, Marcella; Montomoli, M.; Milani, D.; Romano, C.; Tummolo, A.; De Brasi, D.; Coppola, A.; Santoro, C.; Peron, A.; Pantaleoni, C.; Castello, R.; D'Arrigo, S.; Sousa, S. B.; Hennekam, R. C. M.; Sadikovic, B.; Thevenon, J.; Govin, J.; Vitobello, A.; Brunetti-Pierri, N.
1-gen-2009 Overgrowth syndromes: A classification. Neri, Giovanni; Moscarda, Marco
Mostrati risultati da 81 a 100 di 139
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