Αποτελέσματα αναζήτησης - Lucia Micale
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Supravalvular Aortic Stenosis από Giuseppe Merla, Nicola Brunetti‐Pierri, Pasquale Piccolo, Lucia Micale, Maria Nicla Loviglio
Έκδοση 2012Revisão -
2
An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient από Giovanni Battista Ferrero, Cédric Howald, Lucia Micale, Elisa Biamino, Bartolomeo Augello, Carmela Fusco, Maria Giuseppina Turturo, Serena Forzano, Alexandre Reymond, Giuseppe Merla
Έκδοση 2009Artigo -
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Smaller and larger deletions of the Williams Beuren syndrome region implicate genes involved in mild facial phenotype, epilepsy and autistic traits από Carmela Fusco, Lucia Micale, Bartolomeo Augello, Maria Teresa Pellico, Deny Menghini, Paolo Alfieri, M. Cristina Digilio, Barbara Mandriani, Massimo Carella, Orazio Palumbo, Stefano Vicari, Giuseppe Merla
Έκδοση 2013Artigo -
5
Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis από Lucia Micale, Maria Giuseppina Turturo, Carmela Fusco, Bartolomeo Augello, L.A. Pérez Jurado, Claudia Izzi, M. Cristina Digilio, Donatella Milani, Elisabetta Lapi, Leopoldo Zelante, Giuseppe Merla
Έκδοση 2009Artigo -
6
The ubiquitin ligase TRIM32 promotes the autophagic response to Mycobacterium tuberculosis infection in macrophages από Alessandra Romagnoli, Martina Di Rienzo, Elisa Petruccioli, Carmela Fusco, Ivana Palucci, Lucia Micale, Tommaso Mazza, Giovanni Delogu, Giuseppe Merla, Delia Goletti, Mauro Piacentini, Gian María Fimia
Έκδοση 2023Artigo -
7
Dissecting KMT2D missense mutations in Kabuki syndrome patients από Dario Cocciadiferro, Bartolomeo Augello, Pasquelena De Nittis, Jiyuan Zhang, Barbara Mandriani, Natascia Malerba, Gabriella Maria Squeo, Alessandro Romano, Barbara Piccinni, Tiziano Verri, Lucia Micale, Laura Pasqualucci, Giuseppe Merla
Έκδοση 2018Artigo -
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TRIM8 modulates p53 activity to dictate cell cycle arrest από Mariano Francesco Caratozzolo, Lucia Micale, Maria Giuseppina Turturo, S Cornacchia, Carmela Fusco, Flaviana Marzano, Bartolomeo Augello, Anna Maria D’Erchia, Luisa Guerrini, Graziano Pesole, Elisabetta Sbisà, Giuseppe Merla, Apollonia Tullo
Έκδοση 2012Artigo -
9
The E3-Ubiquitin Ligase TRIM50 Interacts with HDAC6 and p62, and Promotes the Sequestration and Clearance of Ubiquitinated Proteins into the Aggresome από Carmela Fusco, Lucia Micale, Mikhail V. Egorov, Maria Monti, Ester Valentina D’Addetta, Bartolomeo Augello, Flora Cozzolino, Alessia Calcagnì, Andrea Fontana, Roman Polishchuk, Gérard Didelot, Alexandre Reymond, Piero Pucci, Giuseppe Merla
Έκδοση 2012Artigo -
10
TRIM50 regulates Beclin 1 proautophagic activity από Carmela Fusco, Barbara Mandriani, Martina Di Rienzo, Lucia Micale, Natascia Malerba, Dario Cocciadiferro, Eva Sjøttem, Bartolomeo Augello, Gabriella Maria Squeo, Maria Teresa Pellico, Ashish Jain, Terje Johansen, Gian María Fimia, Giuseppe Merla
Έκδοση 2018Artigo -
11
TRIM8 downregulation in glioma affects cell proliferation and it is associated with patients survival από Lucia Micale, Carmela Fusco, Andrea Fontana, Raffaela Barbano, Bartolomeo Augello, Pasquelena De Nittis, Massimiliano Copetti, Maria Teresa Pellico, Barbara Mandriani, Dario Cocciadiferro, Paola Parrella, Vito Michele Fazio, Lucia Dimitri, Vincenzo D’Angelo, Chiara Novielli, Lidia Larizza, Antonio Daga, Giuseppe Merla
Έκδοση 2015Artigo -
12
Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of<scp>K</scp>abuki Syndrome Patients από Lucia Micale, Bartolomeo Augello, Claudia Maffeo, Angelo Selicorni, Federica Zucchetti, Carmela Fusco, Pasquelena De Nittis, Maria Teresa Pellico, Barbara Mandriani, Rita Fischetto, Loredana Boccone, Margherita Silengo, Elisa Biamino, Chiara Perrìa, Stefano Sotgiu, Gigliola Serra, Elisabetta Lapi, Marcella Neri, Alessandra Ferlini, Maria Luigia Cavaliere, Pietro Chiurazzi, Matteo Della Monica, Gioacchino Scarano, Francesca Faravelli, Paola Ferrari, Laura Mazzanti, Alba Pilotta, Maria Grazia Patricelli, Maria Francesca Bedeschi, Francesco Benedicenti, Paolo Prontera, Benedetta Toschi, Leonardo Salviati, Daniela Melis, E. Di Battista, Alessandra Vancini, Livia Garavelli, Leopoldo Zelante, Giuseppe Merla
Έκδοση 2014Artigo -
13
Mutation spectrum of MLL2 in a cohort of kabuki syndrome patients από Lucia Micale, Bartolomeo Augello, Carmela Fusco, Angelo Selicorni, Maria Nicla Loviglio, Margherita Silengo, Alexandre Reymond, Barbara Gumiero, Federica Zucchetti, Ester Valentina D’Addetta, Elga Fabia Belligni, Alessia Calcagnì, M. Cristina Digilio, Bruno Dallapiccola, Francesca Faravelli, Francesca Forzano, Maria Accadia, Aldo Bonfante, Maurizio Clementi, Cecilia Daolio, Sofia Douzgou, Paola Ferrari, Rita Fischetto, Livia Garavelli, Elisabetta Lapi, Teresa Mattina, Daniela Melis, Maria Grazia Patricelli, Manuela Priolo, Paolo Prontera, Alessandra Renieri, Maria Antonietta Mencarelli, Gioacchino Scarano, Matteo Della Monica, Benedetta Toschi, Licia Turolla, Alessandra Vancini, Adriana Zatterale, Orazio Gabrielli, Leopoldo Zelante, Giuseppe Merla
Έκδοση 2011Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
Biology
Gene
Genetics
Haploinsufficiency
Phenotype
Medicine
Apoptosis
Cell biology
Autophagy
Cognition
Frameshift mutation
Internal medicine
Kabuki syndrome
Missense mutation
Mutation
Neuroscience
Stenosis
Supravalvular aortic stenosis
Ubiquitin
Ubiquitin ligase
Williams syndrome
Allele
Biochemistry
Cancer research
Cell
Chemistry
Elastin
Exon
Gene silencing
Glioma