BRUSCO, ALFREDO

BRUSCO, ALFREDO  

DIPARTIMENTO DI MEDICINA MOLECOLARE  

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A 20-year long term experience of the Italian Diamond-Blackfan Anaemia Registry: RPS and RPL genes, different faces of the same disease? 1-gen-2020 Quarello, Paola; Garelli, Emanuela; Carando, Adriana; Cillario, Rebecca; Brusco, Alfredo; Giorgio, Elisa; Ferrante, Daniela; Corti, Paola; Zecca, Marco; Luciani, Matteo; Pierri, Filomena; Putti, Maria C; Cantarini, Maria E; Farruggia, Piero; Barone, Angelica; Cesaro, Simone; Russo, Giovanna; Fagioli, Franca; Dianzani, Irma; Ramenghi, Ugo
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations 1-gen-2015 Mancini, Cecilia; Nassani, S; Guo, Y; Chen, Y; Giorgio, Elisa; Brussino, Alessandro; DI GREGORIO, Eleonora; Cavalieri, Simona; LO BUONO, Nicola; Funaro, Ada; Pizio, Nr; Nmezi, B; Kyttala, A; Santorelli, Fm; Padiath, Qs; Hakonarson, H; Zhang, H; Brusco, Alfredo
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy 1-gen-2019 Giorgio, Elisa; Lorenzati, Martina; Rivetti di Val Cervo, Pia; Brussino, Alessandro; Cernigoj, Manuel; DELLA SALA, Edoardo; Bartoletti Stella, Anna; Ferrero, Marta; Caiazzo, Massimiliano; Capellari, Sabina; Cortelli, Pietro; Conti, Luciano; Cattaneo, Elena; Buffo, Annalisa; Brusco, Alfredo
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression 1-gen-2013 Giorgio, Elisa; Rolyan, Harshvardhan; Kropp, Laura; Baswanth Chakka, Anish; Yatsenko, Svetlana; Di Gregorio, Eleonora; Lacerenza, Daniela; Vaula, Giovanna; Talarico, Flavia; Mandich, Paola; Toro, Camilo; Eymard Pierre, Eleonore; Labauge, Pierre; Capellari, Sabina; Cortelli, Pietro; Pinto Vairo, Filippo; Miguel, Diego; Stubbolo, Danielle; Charles Marques, Lourenco; Gahl, William; Boespflug-Tanguy, Odile; Melberg, Atle; Hassin-Baer, Sharon; Cohen, Oren S.; Pjontek, Rastislav; Grau, Armin; Klopstock, Thomas; Fogel, Brent; Meijer, Inge; Rouleau, Guy; Bouchard, Jean-Pierre L.; Ganapathiraju, Madhavi; Vanderver, Adeline; Dahl, Niklas; Hobson, Grace; Brusco, Alfredo; Brussino, Alessandro; Saleem Padiath, Quasar
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications 1-gen-2015 DI GREGORIO, Eleonora; Gai, Giorgia; Botta, Giovanni; Calcia, Alessandro; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Ribotta, Marisa; Zonta, Andrea; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Restagno, Gabriella; Ferrero, Giovanni Battista; Viora, Elsa; Pasini, Barbara; Grosso, Enrico; Brusco, Alfredo; Brussino, Alessandro
Autosomal dominant leukodystrophy: characterization of eight famiglie with homogeneous phenorype 1-gen-2011 Vaula, G; Brussino, A; Cortelli, P; Di gregorio, E; Mandich, P; Giorgio, E; Lacerenza, D; Capellari, S; Talarico, F; Gahl, W; Boespflug- Tanguy, O; Pierre, E; Toro, C; Pinto Vairo, F; Brusco, A
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 1-gen-2020 Palombo, Flavia; Graziano, Claudio; Al Wardy, Nadia; Nouri, Nayereh; Marconi, Caterina; Magini, Pamela; Severi, Giulia; La Morgia, Chiara; Cantalupo, Gaetano; Cordelli, Duccio Maria; Gangarossa, Simone; Al Kindi, Mohammed Nasser; Al Khabouri, Mazin; Salehi, Mansoor; Giorgio, Elisa; Brusco, Alfredo; Pisani, Francesco; Romeo, Giovanni; Carelli, Valerio; Pippucci, Tommaso; Seri, Marco
A case of Feingold type 2 syndrome associated with keratoconus refines keratoconus type 7 locus on chromosome 13q 1-gen-2017 Sirchia, Fabio; DI GREGORIO, Eleonora; Restagno, Gabriella; Grosso, Enrico; Pappi, Patrizia; Talarico, Flavia; Savin, Elisa; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Pasini, Barbara; Mehta, Jodhbir S.; Brusco, Alfredo
CLINICAL AND GENETIC HETEROGENEITY OF FAMILIAL LEUKOENCEPHALOPATHY AND CEREBRAL HAEMORRAGE 1-gen-2014 Giacone, S.; Giorgio, E.; Brussino, A.; Brusco, A.; Cerrato, P.; Leombruni, S.; Romanelli, M.; Terreni, A.; Pinessi, L.; V AULA, G.
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes 1-gen-2017 DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista
Design of a multiplex ligation-dependent probe amplification assay for SLC20A2: identification of two novel deletions in primary familial brain calcification 1-gen-2019 Giorgio, Elisa; Garelli, Emanuela; Carando, Adriana; Bellora, Stefania; Rubino, Elisa; Quarello, Paola; Sirchia, Fabio; Marrama, Federico; Gallone, Salvatore; Grosso, Enrico; Pasini, Barbara; Massa, Roberto; Brussino, Alessandro; Brusco, Alfredo
ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 1-gen-2014 Di Gregorio, Eleonora; Borroni, Barbara; Giorgio, Elisa; Lacerenza, Daniela; Ferrero, Marta; Lo Buono, Nicola; Ragusa, Neftj; Mancini, Cecilia; Gaussen, Marion; Calcia, Alessandro; Mitro, Nico; Hoxha, Eriola; Mura, Isabella; Coviello, Domenico A.; Moon, Young-Ah; Tesson, Christelle; Vaula, Giovanna; Couarch, Philippe; Orsi, Laura; Duregon, Eleonora; Papotti, Mauro Giulio; Deleuze, Jean-François; Imbert, Jean; Costanzi, Chiara; Padovani, Alessandro; Giunti, Paola; Maillet-Vioud, Marcel; Durr, Alexandra; Brice, Alexis; Tempia, Filippo; Funaro, Ada; Boccone, Loredana; Caruso, Donatella; Stevanin, Giovanni; Brusco, Alfredo
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes 1-gen-2017 Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, ELGA FABIA; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; DI GREGORIO, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoroso, Antonio; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo
A fetal case of microphthalmia and limb anomalies with abnormal neuronal migration associated with SMOC1 biallelic variants 1-gen-2019 Mancini, Cecilia; Zonta, Andrea; Botta, Giovanni; Breda Klobus, Andrea; Valbonesi, Stefano; Pasini, Barbara; Giorgio, Elisa; Viora, Elsa; Brusco, Alfredo; Brussino, Alessandro
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients 1-gen-2017 Montin, Davide; Licciardi, Francesco; Giorgio, Elisa; Ciolfi, Andrea; Pizzi, Simone; Mussa, Alessandro; Meazza, Raffaella; Tartaglia, Marco; Brusco, Alfredo; Pende, Daniela; Ferrero, Giovanni Battista
Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy 1-gen-2019 Nmezi, Bruce; Giorgio, Elisa; Raininko, Raili; Lehman, Anna; Spielmann, Malte; Koenig, Mary Kay; Adejumo, Rahmat; Knight, Melissa; Gavrilova, Ralitza; Alturkustani, Murad; Sharma, Manas; Hammond, Robert; Gahl, William A; Toro, Camilo; Brusco, Alfredo; Padiath, Quasar S
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH 1-gen-2014 DI GREGORIO, Eleonora; Elisa, Savin; Biamino, Elisa; Belligni, ELGA FABIA; Valeria Giorgia, Naretto; Gaetana, D’Alessandro; Giorgia, Gai; Franco, Fiocchi; Calcia, Alessandro; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Flavia, Talarico; Patrizia, Pappi; Gandione, Marina; Monica, Grosso; Valentina, Asnaghi; Gabriella, Restagno; Mandrile, Giorgia; Giovanni, Botta; Cirillo, Margherita; Enrico, Grosso; Ferrero, Giovanni Battista; Brusco, Alfredo
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) 1-gen-2015 Giorgio, Elisa; Robyr, Daniel; Spielmann, Malte; Ferrero, Enza; Di Gregorio, Eleonora; Imperiale, Daniele; Vaula, Giovanna; Stamoulis, Georgios; Santoni, Federico; Atzori, Cristiana; Gasparini, Laura; Ferrera, Denise; Canale, Claudio; Guipponi, Michel; Pennacchio Len, A.; Antonarakis Stylianos, E.; Brussino, Alessandro; Brusco, Alfredo
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism 1-gen-2020 Satterstrom, F Kyle; Kosmicki, Jack A; Wang, Jiebiao; Breen, Michael S; De Rubeis, Silvia; An, Joon-Yong; Peng, Minshi; Collins, Ryan; Grove, Jakob; Klei, Lambertus; Stevens, Christine; Reichert, Jennifer; Mulhern, Maureen S; Artomov, Mykyta; Gerges, Sherif; Sheppard, Brooke; Xu, Xinyi; Bhaduri, Aparna; Norman, Utku; Brand, Harrison; Schwartz, Grace; Nguyen, Rachel; Guerrero, Elizabeth E; Dias, Caroline; Aleksic, B; Anney, R; Barbosa, M; Bishop, S; Brusco, A; Bybjerg-Grauholm, J; Carracedo, A; Chan, Mcy; Chiocchetti, Ag; Chung, Bhy; Coon, H; Cuccaro, Ml; Curró, A; Dalla Bernardina, B; Doan, R; Domenici, E; Dong, S; Fallerini, C; Fernández-Prieto, M; Ferrero, Gb; Freitag, Cm; Fromer, M; Gargus, Jj; Geschwind, D; Giorgio, E; González-Peñas, J; Guter, S; Halpern, D; Hansen-Kiss, E; He, X; Herman, Ge; Hertz-Picciotto, I; Hougaard, Dm; Hultman, Cm; Ionita-Laza, I; Jacob, S; Jamison, J; Jugessur, A; Kaartinen, M; Knudsen, Gp; Kolevzon, A; Kushima, I; Lee, Sl; Lehtimäki, T; Lim, Et; Lintas, C; Lipkin, Wi; Lopergolo, D; Lopes, F; Ludena, Y; Maciel, P; Magnus, P; Mahjani, B; Maltman, N; Manoach, Ds; Meiri, G; Menashe, I; Miller, J; Minshew, N; Montenegro, Ems; Moreira, D; Morrow, Em; Mors, O; Mortensen, Pb; Mosconi, M; Muglia, P; Neale, Bm; Nordentoft, M; Ozaki, N; Palotie, A; Parellada, M; Passos-Bueno, Mr; Pericak-Vance, M; Persico, Am; Pessah, I; Puura, K; Reichenberg, A; Renieri, A; Riberi, E; Robinson, Eb; Samocha, Ke; Sandin, S; Santangelo, Sl; Schellenberg, G; Scherer, Sw; Schlitt, S; Schmidt, R; Schmitt, L; Silva, Imw; Singh, T; Siper, Pm; Smith, M; Soares, G; Stoltenberg, C; Suren, P; Susser, E; Sweeney, J; Szatmari, P; Tang, L; Tassone, F; Teufel, K; Trabetti, E; Trelles, Mdp; Walsh, Ca; Weiss, La; Werge, T; Werling, Dm; Wigdor, Em; Wilkinson, E; Willsey, Aj; Yu, Tw; Yu, Mhc; Yuen, R; Zachi, E; Agerbo, E; Als, Td; Appadurai, V; Bækvad-Hansen, M; Belliveau, R; Buil, A; Carey, Ce; Cerrato, F; Chambert, K; Churchhouse, C; Dalsgaard, S; Demontis, D; Dumont, A; Goldstein, J; Hansen, Cs; Hauberg, Me; Hollegaard, Mv; Howrigan, Dp; Huang, H; Maller, J; Martin, Ar; Martin, J; Mattheisen, M; Moran, J; Pallesen, J; Palmer, Ds; Pedersen, Cb; Pedersen, Mg; Poterba, T; Poulsen, Jb; Ripke, S; Schork, Aj; Thompson, Wk; Turley, P; Walters, Rk; Betancur, Catalina; Cook, Edwin H; Gallagher, Louise; Gill, Michael; Sutcliffe, James S; Thurm, Audrey; Zwick, Michael E; Børglum, Anders D; State, Matthew W; Cicek, A Ercument; Talkowski, Michael E; Cutler, David J; Devlin, Bernie; Sanders, Stephan J; Roeder, Kathryn; Daly, Mark J; Buxbaum, Joseph D
Messanger RNA processing is altered in autosomal dominant leukodystrophy 1-gen-2015 Anna Bartoletti, Stella; Laura, Gasparini; Caterina, Giacomini; Patrizia, Corrado; Rossana, Terlizzi; Giorgio, Elisa; Pamela, Magini; Marco, Seri; Agostino, Baruzzi; Piero, Parchi; Brusco, Alfredo; Pietro, Cortelli; Sabina, Capellari