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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-2021 Gene expression profiling of pancreas neuroendocrine tumors with different ki67‐based grades Simbolo, M.; Bilotta, M.; Mafficini, A.; Luchini, C.; Furlan, D.; Inzani, F.; Petrone, G.; Bonvissuto, D.; Rosa, S. L.; Schinzari, G.; Bianchi, A.; Rossi, E.; Menghi, R.; Giuliante, F.; Boccia, S.; Scarpa, A.; Rindi, G.
1-gen-2007 -Genetic analysis of the dystroglycan gene in brochopulmnary dysplasia affected premature newbors Concolino, P.; Capoluongo, E.; Santonocito, E.; Vento, Giovanni; Tana, Milena; Romagnoli, Costantino; Zuppi, Cecilia; Ameglio, F.; Brancaccio, A.; Sciandra, F.
1-gen-2014 Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges Marangi, Giuseppe; Traynor, Bj
1-gen-2013 Genetic counselling in ALS: facts, uncertainties and clinical suggestions Chiò, A; Battistini, S; Calvo, A; Caponnetto, C; Conforti, Fl; Corbo, M; Giannini, F; Mandrioli, J; Mora, G; Sabatelli, Mario; Ajmone, C; Mastro, E; Pain, D; Mandich, P; Penco, S; Restagno, G; Zollino, Marcella; Surbone, A.
1-gen-2010 Genome-wide association study identifies a sequence variant within the DAB2IP gene conferring susceptibility to abdominal aortic aneurysm Pola, Roberto; Gaetani, Eleonora
1-gen-2015 A Genome-wide Association Study of Myasthenia Gravis Renton, Ae; Pliner, Ha; Provenzano, Carlo; Evoli, Amelia; Ricciardi, R; Nalls, Ma; Marangi, Giuseppe; Abramzon, Y; Arepalli, S; Chong, S; Hernandez, Dg; Johnson, Jo; Bartoccioni, Emanuela; Scuderi, Flavia; Maestri, M; Gibbs, Jr; Errichiello, E; Chiò, A; Restagno, G; Sabatelli, Mario; Macek, M; Scholz, Sw; Corse, A; Chaudhry, V; Benatar, M; Barohn, Rj; Mcvey, A; Pasnoor, M; Dimachkie, Mm; Rowin, J; Kissel, J; Freimer, M; Kaminski, Hj; Sanders, Db; Lipscomb, B; Massey, Jm; Chopra, M; Howard, Jf; Koopman, Wj; Nicolle, Mw; Pascuzzi, Rm; Pestronk, A; Wulf, C; Florence, J; Blackmore, D; Soloway, A; Siddiqi, Z; Muppidi, S; Wolfe, G; Richman, D; Mezei, Mm; Jiwa, T; Oger, J; Drachman, Db; Traynor, Bj
1-gen-2011 A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. Boccia, Stefania; Inhance, Consortium
1-gen-2009 Genomic duplication of PTPN11 is an uncommon cause of Noonan syndrome. Neri, Giovanni
1-gen-2017 Geographic heterogeneity in the prevalence of human papillomavirus in head and neck cancer Anantharaman, Devasena; Abedi Ardekani, Behnoush; Beachler, Daniel C; Gheit, Tarik; Olshan, Andrew F; Wisniewski, Kathy; Wunsch Filho, Victor; Toporcov, Tatiana N; Tajara, Eloiza H; Levi, José Eduardo; Moyses, Raquel A; Boccia, Stefania; Cadoni, Gabriella; Rindi, Guido; Ahrens, Wolfgang; Merletti, Franco; Conway, David I; Wright, Sylvia; Carreira, Christine; Renard, Helene; Chopard, Priscilia; McKay Chopin, Sandrine; Scelo, Ghislaine; Tommasino, Massimo; Brennan, Paul; D'Souza, Gypsyamber
1-gen-2008 Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin. Hennies, Hc; Kornak, U; Zhang, H; Egerer, J; Zhang, X; Seifert, W; Kuhnisch, J; Budde, B; Natebus, M; Brancati, F; Wilcox, Wr; Muller, D; Kaplan, Pb; Rajab, A; Zampino, Giuseppe; Fodale, V; Dallapiccola, B; Newman, W; Metcalfe, K; Clayton Smith, J; Tassabehji, M; Steinmann, B; Barr, Fa; Nurnberg, P; Wieacker, P; Mundlos, S.
1-gen-2014 Glucokinase Regulatory Protein Gene Polymorphism Affects Liver Fibrosis in Non-Alcoholic Fatty Liver Disease Petta, S; Miele, Luca; Bugianesi, E; Cammà, C; Rosso, C; Boccia, Stefania; Cabibi, D; Di Marco, V; Grimaudo, S; Grieco, Antonio; Pipitone, Rm; Marchesini, G; Craxì, A.
1-gen-2014 Glucokinase regulatory protein gene polymorphism affects liver fibrosis in non-alcoholic fatty liver disease Petta, S; Miele, Luca; Bugianesi, E; Cammà, C; Rosso, C; Boccia, Stefania; Cabibi, D; Di Marco, V; Grimaudo, S; Grieco, Antonio; Pipitone, Rm; Marchesini, G; Craxì, A.
1-gen-2010 Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype. Martinelli, S; De Luca, A; Cavaliere, M. L; Zampino, Giuseppe; Gelb, Bd; Tartaglia, Marco
1-gen-2009 HLA class II allele analysis in MuSK-positive myasthenia gravis suggests a role for DQ5. Bartoccioni, Emanuela; Scuderi, Flavia; Augugliaro, A.; Chiatamonte Ranieri, Sofia; Sauchielli, Donato; Alboini, Paolo; Marino, Mariapaola; Evoli, Amelia
1-gen-2005 Homocysteinemia is inversely correlated with platelet count and inversely correlated with sE-and sP-selectin levels in females homozygous for C677T methylenetetrahydrofolate reductase Rongioletti, Mauro; Baldassini, Mauro; Papa, Fabrizio; Capoluongo, Ettore Domenico; Rocca, Bianca; De Cristofaro, Raimondo; Salvati, Giuseppina; Larciprete, Giovanni; Stroppolo, Annalisa; Angelucci, Piero Antonio; Cirese, Elio; Ameglio, Franco
1-gen-2013 Hypoxia-inducible factor-1α(Pro-582-Ser) polymorphism prevents iron deprivation in healthy blood donors Torti, Lorenza; Teofili, Luciana; Capodimonti, Sara; Nuzzolo, Eugenia Rosa; Iachininoto, Maria Grazia; Massini, Giuseppina; Coluzzi, S; Tafuri, A; Fiorin, F; Girelli, G; Zini Tanzi, Gina; Larocca, Luigi Maria
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.
Mostrati risultati da 53 a 72 di 139
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