GIORGIO, ELISA

GIORGIO, ELISA  

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
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
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
A genome-wide association study with tissue transcriptomics identifies genetic drivers for classic bladder exstrophy 1-gen-2022 Mingardo, Enrico; Beaman, Glenda; Grote, Philip; Nordenskjöld, Agneta; Newman, William; Woolf, Adrian S; Eckstein, Markus; Hilger, Alina C; Dworschak, Gabriel C; Rösch, Wolfgang; Ebert, Anne-Karolin; Stein, Raimund; Brusco, Alfredo; Di Grazia, Massimo; Tamer, Ali; Torres, Federico M; Hernandez, Jose L; Erben, Philipp; Maj, Carlo; Olmos, Jose M; Riancho, Jose A; Valero, Carmen; Hostettler, Isabel C; Houlden, Henry; Werring, David J; Schumacher, Johannes; Gehlen, Jan; Giel, Ann-Sophie; Buerfent, Benedikt C; Arkani, Samara; Åkesson, Elisabeth; Rotstein, Emilia; Ludwig, Michael; Holmdahl, Gundela; Giorgio, Elisa; Berettini, Alfredo; Keene, David; Cervellione, Raimondo M; Younsi, Nina; Ortlieb, Melissa; Oswald, Josef; Haid, Bernhard; Promm, Martin; Neissner, Claudia; Hirsch, Karin; Stehr, Maximilian; Schäfer, Frank-Mattias; Schmiedeke, Eberhard; Boemers, Thomas M; van Rooij, Iris A L M; Feitz, Wouter F J; Marcelis, Carlo L M; Lacher, Martin; Nelson, Jana; Ure, Benno; Fortmann, Caroline; Gale, Daniel P; Chan, Melanie M Y; Ludwig, Kerstin U; Nöthen, Markus M; Heilmann, Stefanie; Zwink, Nadine; Jenetzky, Ekkehart; Odermatt, Benjamin; Knapp, Michael; Reutter, Heiko
A high-content drug screening strategy to identify protein level modulators for genetic diseases: A proof-of-principle in autosomal dominant leukodystrophy 1-gen-2021 Giorgio, E.; Pesce, E.; Pozzi, E.; Sondo, E.; Ferrero, M.; Morerio, C.; Borrelli, G.; Della Sala, E.; Lorenzati, M.; Cortelli, P.; Buffo, A.; Pedemonte, N.; Brusco, A.
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
A NOVEL 3Q29 DELETION ASSOCIATED WITH AUTISM, INTELLECTUAL DISABILITY, PSYCHIATRIC DISORDERS, AND OBESITY 1-gen-2015 Biamino, E; Di Gregorio, E; Belligni, Ef; Keller, R; Riberi, E; Gandione, M; Calcia, A; Mancini, C; Giorgio, E; Cavalieri, S; Pappi, P; Talarico, F; Fea, Am; De Rubeis, S; Cirillo Silengo, M; Ferrero, Gb; Brusco, A.
A novel case of Greenberg dysplasia and genotype-phenotype correlation analysis for LBR pathogenic variants: An instructive example of one gene-multiple phenotypes 1-gen-2019 Giorgio, Elisa; Sirchia, Fabio; Bosco, Martino; Sobreira, Nara Lygia M; Grosso, Enrico; Brussino, Alessandro; Brusco, Alfredo
A novel cct5 missense variant associated with early onset motor neuropathy 1-gen-2020 Antona, V.; Scalia, F.; Giorgio, E.; Radio, F. C.; Brusco, A.; Oliveri, M.; Corsello, G.; Lo Celso, F.; Vadala, M.; de Macario, E. C.; Macario, A. J. L.; Cappello, F.; Giuffre, M.
A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids 1-gen-2015 Di Donato, Ilaria; Stabile, Carmen; Bianchi, Silvia; Taglia, Ilaria; Mignarri, Andrea; Salvatore, Simona; Giorgio, Elisa; Brusco, Alfredo; Simone, Isabella; Dotti Maria, Teresa; Federico, Antonio
A novel homozygous change of CLCN2 (p.His590Pro) is associated with a subclinical form of leukoencephalopathy with ataxia (LKPAT) 1-gen-2017 Giorgio, Elisa; Vaula, Giovanna; Benna, Paolo; LO BUONO, Nicola; Eandi, Chiara Maria; Dino, Daniele; Mancini, Cecilia; Cavalieri, Simona; DI GREGORIO, Eleonora; Pozzi, Elisa; Ferrero, Marta; Giordana, Maria Teresa; Depienne, Christel; Brusco, Alfredo
A SPORADIC CASE OF AUTOSOMAL DOMINANT LEUKODYSTROPHY (ADLD) 1-gen-2014 Brunetti, V.; Ferilli, M.; Perna, A.; Nociti, V.; Mirabella, M.; Ricci, E.; Giorgio, E.; Rossini, P.; Silvestri, G.
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10 1-gen-2017 Giorgio, Elisa; Rubino, Elisa; Bruselles, Alessandro; Pizzi, Simone; Rainero, Innocenzo; Duca, Sergio; Sirchia, Fabio; Pasini, Barbara; Tartaglia, Marco; Brusco, Alfredo
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
AN ATYPICAL FORM OF AOA2 WITH MYOCLONUS ASSOCIATED WITH MUTATIONS IN SETX AND AFG3L2 1-gen-2015 Mancini, C; Orsi, L; Guo, Y; Jiankang, ; Yulan, Chen; Fengxiang, Wang; Lifeng, Tian; Xuanzhu, Liu; Jianguo, Zhang; Hui, Jiang; Bruce Shike, Nmezi; Takashi, Tatsuta; Giorgio, E; Di Gregorio, E; Cavalieri, S; Pozzi, E; Mortara, P; Maria Marcella, Caglio; Alessandro, Balducci; Lorenzo, Pinessi; Thomas, Langer; Quasar, S Padiath; Hakon, Hakonarson; Xiuqing Zhang and Brusco, A
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
Analysis of the DNA methylation pattern of the promoter region of calcitonin gene-related peptide 1 gene in patients with episodic migraine: An exploratory case-control study 1-gen-2022 Rubino, E.; Boschi, S.; Giorgio, E.; Pozzi, E.; Marcinno, A.; Gallo, E.; Roveta, F.; Grassini, A.; Brusco, A.; Rainero, I.
ARF1 haploinsufficiency causes periventricular nodular heterotopia with variable clinical expressivity 1-gen-2021 Gana, S.; Casella, A.; Cociglio, S.; Tartara, E.; Rognone, E.; Giorgio, E.; Pichiecchio, A.; Orcesi, S.; Valente, E. M.
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