Murdolo, Marina

Murdolo, Marina  

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Risultati 1 - 16 di 16 (tempo di esecuzione: 0.021 secondi).
Data di pubblicazione Titolo Autore(i) File
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-2016 Germinal mosaicism for a deletion of the FMR1 gene leading to fragile X syndrome Jiraanont, P.; Hagerman, R. J.; Neri, Giovanni; Zollino, Marcella; Murdolo, Marina; Tassone, Francesco
1-gen-2015 Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients Zollino, Marcella; Marangi, Giuseppe; Ponzi, Emanuela; Orteschi, Daniela; Ricciardi, Stefania; Lattante, Serena; Murdolo, Marina; Battaglia, Domenica Immacolata; Contaldo, Ilaria; Mercuri, Eugenio Maria; Stefanini, Mc; Caumes, R; Edery, P; Rossi, M; Piccione, M; Corsello, G; Della Monica, M; Scarano, F; Priolo, M; Gentile, M; Zampino, Giuseppe; Vijzelaar, R; Abdulrahman, O; Rauch, A; Oneda, B; Deardorff, Ma; Saitta, Sc; Falk, Mj; Dubbs, H; Zackai, E.
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 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, I; Leuzzi, V; Battaglia, Domenica Immacolata; Mercuri, E; Slavotinek, Am; Zollino, Marcella
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; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata
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; Ranalli, Domiziana; Acquafondata, Celeste; Murdolo, Marina; Marangi, Giuseppe; Asaro, Alessia; Battaglia, Domenica Immacolata
1-gen-2012 Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype Zollino, Marcella; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Battaglia, Domenica Immacolata; Stefanini, Maria Chiara; Mercuri, Eugenio Maria; Chiurazzi, Pietro; Neri, Giovanni; Marangi, Giuseppe
1-gen-2012 Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype Zollino, Marcella; Orteschi, Daniela; Murdolo, Marina; Lattante, Serena; Battaglia, Dario; Stefanini, Maria Chiara; Mercuri, Eugenio Maria; Chiurazzi, Pietro; Neri, Giovanni; Marangi, Giuseppe
1-gen-2012 Von hippel-lindau disease and erythrocytosis Capodimonti, Sara; Teofili, Luciana; Martini, Maurizio; Cenci, Tonia; Iachininoto, Mg; Nuzzolo, Er; Bianchi, Maria; Murdolo, Marina; Leone, Giuseppe; Larocca, Luigi Maria
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 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-2009 Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis. Sabatelli, Mario; Eusebi, Fabrizio; Al Chalabi, Amar; Conte, Amelia; Madia, Francesca; Luigetti, Marco; Lattante, Serena; Marangi, Giuseppe; Murdolo, Marina; Orteschi, Daniela; Del Grande, Alessandra; Tonali, Pietro Attilio; Neri, Giovanni; Zollino, Marcella
1-gen-2008 On the nosology and pathogenesis of Wolf-Hirschhorn sindrome: genotype-phenotype correlation analysis of 80 patients and literature review. Zollino, Marcella; Murdolo, Marina; Marangi, Giuseppe; Pecile, V; Galasso, C; Mazzanti, L; Neri, Giovanni
1-gen-2008 The terminal 760 kb region on 4p16 is unlikely to be the critical interval for growth delay in Wolf-Hirschhorn syndrome. Zollino, Marcella; Murdolo, Marina; Neri, Giovanni
1-gen-2007 Wolf-Hirschhorn syndrome-associated chromosome changes are not mediated by olfactory receptor gene clusters nor by inversion polymorphism on 4p16 Zollino, Marcella; Lecce, Rosetta; Murdolo, Marina; Orteschi, Daniela; Marangi, Giuseppe; Selicorni, A.; Midro, A.; Sorge, G.; Zampino, Giuseppe; Memo, L.; Battaglia, Domenica Immacolata; Petersen, M.; Pandelia, E.; Gyftodymou, Y.; Faravelli, F.; Tenconi, R.; Garavelli, L.; Mazzanti, L.; Fischetto, R.; Cavalli, P.; Savasta, S.; Rodriguez, L.; Neri, Giovanni