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Data di pubblicazione Titolo Autore(i) File
1-gen-2012 Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72 Chiò, A; Borghero, G; Restagno, G; Mora, G; Drepper, C; Traynor, Bj; Sendtner, M; Brunetti, M; Ossola, I; Calvo, A; Pugliatti, M; Sotgiu, Ma; Murru, Mr; Marrosu, Mg; Marrosu, F; Marinou, K; Mandrioli, J; Sola, P; Caponnetto, C; Mancardi, G; Mandich, P; La Bella, V; Spataro, R; Conte, Amelia; Monsurrò, Mr; Tedeschi, G; Pisano, F; Bartolomei, I; Salvi, F; Lauria Pinter, G; Simone, I; Logroscino, G; Gambardella, A; Quattrone, A; Lunetta, C; Volanti, P; Zollino, Marcella; Penco, S; Battistini, S; Renton, Ae; Majounie, E; Abramzon, Y; Conforti, Fl; Giannini, F; Corbo, Massimo; Sabatelli, Mario
1-gen-2012 Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation Conte, Amelia; Lattante, Serena; Luigetti, Marco; Del Grande, Alessandra; Romano, Antonino; Marcaccio, A; Marangi, Giuseppe; Rossini, Paolo Maria; Neri, Geraldina; Zollino, Marcella; Sabatelli, Mario
1-gen-2012 Classification of familial amyotrophic lateral sclerosis by family history: effects on frequency of genes mutation Conte, Andrea; Lattante, Serena; Luigetti, Marco; Del Grande, Alessandra; Romano, A; Marcaccio, A; Marangi, Giuseppe; Rossini, Paolo Maria; Neri, Giovanni; Zollino, Marcella; Sabatelli, Mario
1-gen-2012 The ring 14 syndrome Zollino, Marcella; Ponzi, Emanuela; Gobbi, G; Neri, Giovanni
1-gen-2012 Linguistic and psychomotor development in children with chromosome 14 deletions. Zampini, L; D'Odorico, L; Zanchi, Paola; Zollino, Marcella; Neri, Giovanni
1-gen-2012 Enhancer chip: detecting human copy number variations in regulatory elements Savarese, M; Piluso, G; Orteschi, D; Di Fruscio, G; Dionisi, M; Blanco, Fdv; Torella, A; Giugliano, T; Iacomino, M; Zollino, Marcella; Neri, G; Nigro, V.
1-gen-2012 Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype Zollino, Marcella; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Stefanini, Maria Chiara; Mercuri, Eugenio Maria; Chiurazzi, Pietro; Neri, Giovanni; Marangi, Giuseppe; Battaglia, Dario
1-gen-2011 Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome. Nillesen, Wm; Yntema, Hg; Moscarda, Marco; Verbeek, Ne; Wilson, Lc; Cowan, F; Schepens, M; Raas Rothschild, A; Gafni Weinstein, O; Zollino, Marcella; Vijzelaar, R; Neri, Giovanni; Nelen, M; Bokhoven, H; Giltay, J; Kleefstra, T.
1-gen-2011 Clinical utility gene card for: Mowat-Wilson syndrome Zollino, Marcella; Garavelli, L; Rauch, A.
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 Integrated analysis of clinical signs and literature data for the diagnosis and therapy of a previously undescribed 6p21.3 deletion syndrome. Zollino, Marcella; Gurrieri, Fiorella; Orteschi, Daniela; Marangi, Giuseppe; Neri, Giovanni; Leuzzi, V.
1-gen-2011 Wolf-Hirschhorn syndrome due to pure and translocation forms of monosomy 4p16.1 → pter Iwanowski, Ps; Panasiuk, B; Van Buggenhout, G; Murdolo, Marina; Myśliwiec, M; Maas, Nmc; Lattante, Serena; Korniszewski, L; Posmyk, R; Pilch, J; Zajączek, S; Fryns, J; Zollino, Marcella; Midro, At
1-gen-2011 Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome Neri, Giovanni; Nillesen, Wm; Yntema, Hg; Moscarda, Marco; Verbeek, Ne; Wilson, Lc; Cowan, F; Schepens, M; Raas Rothschild, A; Gafni, Weinstein; Zollino, Marcella; Vijzelaar, R; Nelen, M; Bokhoven, H; Giltay, J; Kleefstra, T.
1-gen-2011 The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria Marangi, Giuseppe; Ricciardi, Stefania; Orteschi, Daniela; Lattante, Serena; Murdolo, Marina; Dallapiccola, B; Biscione, Chiara; Lecce, Rosetta; Chiurazzi, Pietro; Romano, C; Greco, D; Pettinato, R; Sorge, G; Pantaleoni, C; Alfei, E; Toldo, I; Magnani, C; Bonanni, P; Martinez, F; Serra, G; Battaglia, Domenica Immacolata; Lettori, Donatella; Vasco, Gessica; Baroncini, A; Daolio, C; Zollino, Marcella
1-gen-2011 SOD1 G93D sporadic amyotrophic lateral sclerosis (SALS) patient with rapid progression and concomitant novel ANG variant Luigetti, Marco; Lattante, Serena; Zollino, Marcella; Conte, Amelia; Marangi, Giuseppe; Del Grande, Alessandra; Sabatelli, Mario
1-gen-2011 A novel L67P SOD1 mutation in an Italian ALS patient. Del Grande, Alessandra; Luigetti, Marco; Conte, Amelia; Mancuso, Irene; Lattante, Serena; Marangi, Giuseppe; Zollino, Marcella; Sabatelli, Mario; Stipa, G.
1-gen-2011 Uncovering amyotrophic lateral sclerosis phenotypes: clinical features and long-term follow-up of upper motor neuron-dominant ALS Sabatelli, Mario; Zollino, Marcella; Luigetti, Marco; Grande, Ad; Lattante, Serena; Marangi, Giuseppe; Lo Monaco, Mauro; Madia, Francesca; Meleo, Emiliana; Bisogni, Giulia; Conte, Amelia
1-gen-2011 D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation Del Grande, Alessandra; Conte, Amelia; Lattante, Serena; Luigetti, Marco; Marangi, Giuseppe; Zollino, Marcella; Madia, Francesca; Bisogni, Giulia; Sabatelli, Mario
1-gen-2010 A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus Neri, Giovanni; Zollino, Marcella; Orteschi, Daniela; Marangi, Giuseppe; De Crescenzo, V.; Pecile, V.; Riccio, A.
1-gen-2010 A case of Beckwith-Wiedemann syndrome caused by a cryptic 11p15 deletion encompassing the centromeric imprinted domain of the BWS locus. Zollino, Marcella; Orteschi, Daniela; Marangi, Giuseppe; Neri, Giovanni; De Crescenzo, A; Pecile, V; Riccio, A.
Mostrati risultati da 121 a 140 di 175
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