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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-2014 Identification of a potential proinflammatory genetic profile influencing carotid plaque vulnerability. Biscetti, Federico; Straface, Giuseppe; Bertoletti, Giovanni; Vincenzoni, Claudio; Snider, Francesco; Arena, Vincenzo; Landolfi, Raffaele; Flex, Andrea
1-gen-2017 Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4 Bedeschi, Maria Francesca; Marangi, Giuseppe; Calvello, Maria Rosaria; Ricciardi, Stefania; Leone, Francesca Pia Chiara; Baccarin, Marco; Guerneri, Silvana; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Frangella, Silvia; Keena, Beth; Harr, Margaret H.; Zackai, Elaine; Zollino, Marcella
1-gen-2015 [Implementation of Italian guidelines on public health genomics in Italy: a challenging policy of the NHS] Boccia, Stefania; Federici, A; Colotto, Marco; Villari, P.
1-gen-2015 Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel Huang, J; Howie, B; Mccarthy, S; Memari, Y; Walter, K; Min, Jl; Danecek, P; Malerba, G; Trabetti, E; Zheng, H; Gambaro, Giovanni; Richards, Jb; Durbin, R; Timpson, Nj; Marchini, J; Soranzo, N.
1-gen-2020 Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD, ATM, BAP1, and POT1 Pastorino, L; Andreotti, V; Dalmasso, B; Vanni, I; Ciccarese, G; Mandalà, M; Spadola, G; Pizzichetta, Ma; Ponti, G; Tibiletti, Mg; Sala, E; Genuardi, M; Chiurazzi, P; Maccanti, G; Manoukian, S; Sestini, S; Danesi, R; Zampiga, V; La Starza, R; Stanganelli, I; Ballestrero, A; Mastracci, L; Grillo, F; Sciallero, S; Cecchi, F; Tanda, Et; Spagnolo, F; Queirolo, P; Italian Melanoma Intergroup, (IMI); Goldstein, Am; Bruno, W; Ghiorzo, P.
1-gen-2008 Insulin-like growth factor I (CA) repeats are associated with higher melanoma's Breslow index but not associated with the presence of the melanoma. A pilot study Santonocito, Concetta; Paradisi, Andrea; Capizzi, Rodolfo; Concolino, Paola; Lavieri, Maria Michela; Lanza Silveri, Sara; De Luca, Daniele; Catricalà, Caterina; Di Carlo, Aldo; Zuppi, Cecilia; Ameglio, Franco; Capoluongo, Ettore Domenico
1-gen-2011 Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome Neri, Giovanni; Zollino, Marcella; Gurrieri, Fiorella; Orteschi, Daniela; Marangi, Giuseppe
1-gen-2011 Interaction between GSTM1 genotype and IL-6 on mortality in older adults: results from the ilSIRENTE study Onder, Graziano; Capoluongo, Ettore Domenico; Giovannini, Simona; Concolino, Paola; Russo, Andrea; Liperoti, Rosa; Bernabei, Roberto; Landi, Francesco
1-gen-2020 International meeting on Wolf-Hirschhorn syndrome: Update on the nosology and new insights on the pathogenic mechanisms for seizures and growth delay Nevado, J.; Ho, K. S.; Zollino, Marcella; Blanco, R.; Cobaleda, C.; Golzio, C.; Beaudry-Bellefeuille, I.; Berrocoso, S.; Limeres, J.; Barruz, P.; Serrano-Martin, C.; Cafiero, C.; Malaga, I.; Marangi, Giuseppe; Campos-Sanchez, E.; Moriyon-Iglesias, T.; Marquez, S.; Markham, L.; Twede, H.; Lortz, A.; Olson, L.; Sheng, X.; Weng, C.; Wassman, E. R.; Newcomb, T.; Wassman, E. R.; Carey, J. C.; Battaglia, A.; Lopez-Granados, E.; Douglas, D.; Lapunzina, P.
1-gen-2013 Interstitial deletion of 3p22.3p22.2 encompassing ARPP21 and CLASP2 is a potential pathogenic factor for a syndromic form of intellectual disability: a co-morbidity model with additional copy number variations in a large family Marangi, Giuseppe; Orteschi, Daniela; Milano, Valentina; Mancano, Giorgia; Zollino, Marcella
1-gen-2019 Is MED13L-related intellectual disability a recognizable syndrome? Torring, P. M.; Larsen, M. J.; Brasch-Andersen, C.; Krogh, L. N.; Kibaek, M.; Laulund, L.; Illum, N.; Dunkhase-Heinl, U.; Wiesener, A.; Popp, B.; Marangi, Giuseppe; Hjortshoj, T. D.; Ek, J.; Vogel, I.; Becher, N.; Roos, L.; Zollino, Marcella; Fagerberg, C. R.
1-gen-2009 Jacquet erosive diaper dermatitis: a therapeutic challenge. Paradisi, Andrea; Capizzi, Rodolfo; Ghitti, Francesca; Lanza Silveri, Sara; Rendeli, Claudia; Guerriero, Cristina
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
Mostrati risultati da 69 a 88 di 139
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