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Mostrati risultati da 81 a 100 di 174
Data di pubblicazione Titolo Autore(i) File
1-gen-2015 Unique genomic profile associated with pediatric uveal melanoma Blasi, Maria Antonietta; Orteschi, Daniela; Pagliara, Monica Maria; Coco, Giulia; Asaro, Alessia; Mule', Antonino; Petrone, Gianluigi; Zollino, Marcella
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-2015 "CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases" American Journal of Medical Genetics Part A. 164:2557-2566, 2014 Wenger, Tara L; Harr, Margaret; Ricciardi, Stefania; Bhoj, Elizabeth; Santani, Avni; Adam, Margaret P; Barnett, Sarah S; Ganetzky, Rebecca; Mcdonald Mcginn, Donna M; Battaglia, Domenica Immacolata; Bigoni, Stefania; Selicorni, Angelo; Sorge, Giovanni; Monica, Matteo Della; Mari, Francesca; Andreucci, Elena; Romano, Silvia; Cocchi, Guido; Savasta, Salvatore; Malbora, Baris; Marangi, Giuseppe; Garavelli, Livia; Zollino, Marcella; Zackai, Elaine H.
1-gen-2015 HFE p.H63D polymorphism does not influence ALS phenotype and survival Chiò, A; Mora, G; Sabatelli, Mario; Caponnetto, C; Lunetta, C; Traynor, Bj; Johnson, Jo; Nalls, Ma; Calvo, A; Moglia, C; Borghero, G; Monsurrò, Mr; La Bella, V; Volanti, P; Simone, I; Salvi, F; Logullo, Fo; Nilo, R; Giannini, F; Mandrioli, J; Tanel, R; Murru, Mr; Mandich, P; Zollino, Marcella; Conforti, Fl; Penco, S; Brunetti, M; Barberis, M; Restagno, G; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe
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-2014 Utility and Challenges of Next Generation Sequencing in Pediatric Disorders Longoni, M.; Marangi, Giuseppe; Zollino, Marcella
1-gen-2014 Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: A single-centre experience Luigetti, Marco; Del Grande, Alessandra; Conte, Amelia; Lo Monaco, Mauro; Bisogni, Giulia; Romano, Angela; Zollino, Marcella; Rossini, Paolo Maria; Sabatelli, Mario
1-gen-2014 Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder Zollino, Marcella; Orteschi, Daniela; Ruiter, M; Pfundt, R; Steindl, K; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela Pia Rosaria; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata
1-gen-2014 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; Conte, Amelia; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe
1-gen-2014 Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder Zollino, Marcella; Orteschi, Daniela; Ruiter, M; Pfundt, R; Steindl, K; Cafiero, Concetta; Ricciardi, Stefania; Contaldo, Ilaria; Chieffo, Daniela Pia Rosaria; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata
1-gen-2014 Clinical, neurophysiological and pathological findings of HNPP patients with 17p12 deletion: a single-centre experience Luigetti, Marco; Del Grande, Alessandra; Conte, Amelia; Lo Monaco, Mauro; Bisogni, Giulia; Romano, A; Zollino, Marcella; Rossini, Paolo Maria; Sabatelli, Mario
1-gen-2014 CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases Wenger, Tl; Harr, M; Ricciardi, Stefania; Bhoj, E; Santani, A; Adam, Mp; Barnett, Ss; Ganetzky, R; Mcdonald Mcginn, Dm; Battaglia, Domenica Immacolata; Bigoni, S; Selicorni, A; Sorge, G; Monica, Md; Mari, F; Andreucci, E; Romano, S; Cocchi, G; Savasta, S; Malbora, B; Marangi, Giuseppe; Garavelli, L; Zollino, Marcella; Zackai, Eh
1-gen-2013 Prevalence of SHANK3 variants in patients with different subtypes of autism spectrum disorders. Boccuto, Luigi; Lauri, Maria; Sarasua, Sm; Skinner, Cd; Buccella, D; Dwivedi, A; Zollino, Marcella; Orteschi, Daniela; Visconti, P; Dupont, B; Tiziano, Francesco Danilo; Schroer, Rj; Neri, Giovanni; Stevenson, Re; Gurrieri, Fiorella; Schwartz, Ce; Collins, Js
1-gen-2013 Mutations in the 3' untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis Sabatelli, Mario; Moncada, Alice; Conte, Amelia; Lattante, Serena; Marangi, Giuseppe; Luigetti, Marco; Lucchini, Matteo; Mirabella, Massimiliano; Romano, Angela; Del Grande, Alessandra; Bisogni, Giulia; Doronzio, Pn; Rossini, Paolo Maria; Zollino, Marcella
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-2013 Clinical and genetic heterogeneity of amyotrophic lateral sclerosis Sabatelli, Mario; Conte, Amelia; Zollino, Marcella
1-gen-2013 Mild beckwith-wiedemann and severe long-QT syndrome due to deletion of the imprinting center 2 on chromosome 11p. Gurrieri, Fiorella; Zollino, Marcella; Oliva, Antonio; Pascali, Vincenzo Lorenzo; Orteschi, Daniela; Pietrobono, Roberta; Camporeale, Antonia; Bellocci, Fulvio; Neri, Giovanni; Coll Vidal, Monica; Partemi, Sara; Brugada, R.
1-gen-2013 TRAPPC9-related autosomal recessive intellectual disability: report of a new mutation and clinical phenotype Marangi, Giuseppe; Leuzzi, V; Manti, F; Lattante, Serena; Orteschi, Daniela; Pecile, V; Neri, Giovanni; Zollino, Marcella
1-gen-2013 Epilepsy in ring 14 syndrome: a clinical and EEG study of 22 patients Giovannini, Silvia; Marangio, L; Fusco, C; Scarano, A; Frattini, D; Della Giustina, E; Zollino, Marcella; Neri, Giovanni; Gobbi, G.
1-gen-2013 Epilepsy in Mowat-Wilson syndrome: delineation of the electroclinical phenotype Cordelli, Dm; Garavelli, L; Savasta, S; Guerra, A; Pellicciari, A; Giordano, L; Bonetti, S; Cecconi, I; Wischmeijer, A; Seri, M; Rosato, S; Gelmini, C; Della Giustina, E; Ferrari, Ar; Zanotta, N; Epifanio, R; Grioni, D; Malbora, B; Mammi, I; Mari, F; Buoni, S; Mostardini, R; Grosso, S; Pantaleoni, C; Doz, M; Poch Olivé, Ml; Rivieri, F; Sorge, G; Simonte, G; Licata, F; Tarani, L; Terazzi, E; Mazzanti, L; Cerruti Mainardi, P; Boni, A; Faravelli, F; Grasso, M; Bianchi, P; Zollino, Marcella; Franzoni, E.
Mostrati risultati da 81 a 100 di 174
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