תוצאות חיפוש - Massimo Carella
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High-confidence assessment of functional impact of human mitochondrial non-synonymous genome variations by APOGEE מאת Stefano Castellana, Caterina Fusilli, Gianluigi Mazzoccoli, Tommaso Biagini, Daniele Capocefalo, Massimo Carella, Angelo L. Vescovi, Tommaso Mazza
יצא לאור 2017Artigo -
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Emery‐Dreifuss muscular dystrophy type 4: A new SYNE1 mutation associated with hypertrophic cardiomyopathy masked by a perinatal distress‐related spastic diplegia מאת Sandra, Mastroianno, Maria Pia, Leone, Stefano, Castellana, Pietro, Palumbo, Crociani, Paola, Aldo, Russo, Giuseppe, Di Stolfo, Massimo, Carella
יצא לאור 2019Text -
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The Common −866G/A Polymorphism in the Promoter Region of the UCP-2 Gene Is Associated with Reduced Risk of Type 2 Diabetes in Caucasians from Italy מאת Angela Bulotta, Ornella Ludovico, Angelo Coco, Rosa Di Paola, Alessandro Quattrone, Massimo Carella, Fabio Pellegrini, Sabrina Prudente, Vincenzo Trischitta
יצא לאור 2005Artigo -
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Mitochondrial dysregulation and oxidative stress in patients with chronic kidney disease מאת Simona Granata, Gianluigi Zaza, Simona Simone, Gaetano Villani, Dominga Latorre, Paola Pontrelli, Massimo Carella, Francesco Paolo Schena, Giuseppe Grandaliano, Giovanni Pertosa
יצא לאור 2009Artigo -
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BEAT: Bioinformatics Exon Array Tool to store, analyze and visualize Affymetrix GeneChip Human Exon Array data from disease experiments מאת Arianna Consiglio, Massimo Carella, De Giorgio, Gianfranco Delle Foglie, Candida Giovannelli, Giorgio Grillo, Massimo Ianigro, Flavio Licciulli, Orazio Palumbo, Ada Piepoli, Elena Ranieri, Sabino Liuni
יצא לאור 2012Artigo -
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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 מאת 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
יצא לאור 2013Artigo -
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Pathogenetic role of the deafness-related M34T mutation of Cx26 מאת Massimiliano Bicego, Martina Beltramello, Salvatore Melchionda, Massimo Carella, Valeria Piazza, Leopoldo Zelante, Feliksas F. Bukauskas, Edoardo Arslan, Elona Cama, Sergio Pantano, Roberto Bruzzone, Paola D’Andrea, Fabio Mammano
יצא לאור 2006Artigo -
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Decreased free d-aspartate levels are linked to enhanced d-aspartate oxidase activity in the dorsolateral prefrontal cortex of schizophrenia patients מאת Tommaso Nuzzo, Silvia Sacchi, Francesco Errico, Simona Keller, Orazio Palumbo, Ermanno Florio, Daniela Punzo, Francesco Napolitano, Massimiliano Copetti, Massimo Carella, Lorenzo Chiariotti, Alessandro Bertolino, Loredano Pollegioni, Alessandro Usiello
יצא לאור 2017Artigo -
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Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports מאת Laura Bernardini, Stefania Gimelli, Cristina Gervasini, Massimo Carella, Anwar Baban, Giada Frontino, Giancarlo Barbano, Maria Teresa Divizia, Luigi Fedele, Antonio Novelli, Frédérique Béna, Faustina Lalatta, Monica Miozzo, Bruno Dallapiccola
יצא לאור 2009Artigo -
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Good survival outcome of metastatic SDH-deficient gastrointestinal stromal tumors harboring SDHA mutations מאת Ilaria Gandin, Flavio Faletra, Francesca Faletra, Massimo Carella, Vanna Pecile, Giovanni Battista Ferrero, Elisa Biamino, Pietro Palumbo, Orazio Palumbo, Paolo Bosco, Corrado Romano, Chiara Belcaro, Diego Vozzi, Pio D’Adamo
יצא לאור 2014Artigo -
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Wnt5a Drives an Invasive Phenotype in Human Glioblastoma Stem-like Cells מאת Elena Binda, Alberto Visioli, Fabrizio Giani, Nadia Trivieri, Orazio Palumbo, Silvia Restelli, Fabio Dezi, Tommaso Mazza, Caterina Fusilli, Federico Legnani, Massimo Carella, Francesco Di Meco, Rohit Duggal, Angelo L. Vescovi
יצא לאור 2016Artigo -
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MYO6, the Human Homologue of the Gene Responsible for Deafness in Snell’s Waltzer Mice, Is Mutated in Autosomal Dominant Nonsyndromic Hearing Loss מאת Salvatore Melchionda, Nadav Ahituv, Luigi Bisceglia, Tama Sobe, Fabian Glaser, Raquel Rabionet, María L. Arbonés, Angelo Notarangelo, Enzo Di Iorio, Massimo Carella, Leopoldo Zelante, Xavier Estivill, Karen B. Avraham, Paolo Gasparini
יצא לאור 2001Artigo -
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A novel CISD2 intragenic deletion, optic neuropathy and platelet aggregation defect in Wolfram syndrome type 2 מאת Enza Mozzillo, Maurizio Delvecchio, Massimo Carella, Elvira Grandone, Pietro Palumbo, Alessandro Salina, Concetta Aloi, Pietro Buono, Antonella Izzo, Giuseppe d’Annunzio, Gennaro Vecchione, Ada Orrico, Rita Genesio, Francesca Simonelli, Adriana Franzese
יצא לאור 2014Artigo -
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Differences in Gene Expression and Cytokine Release Profiles Highlight the Heterogeneity of Distinct Subsets of Adipose Tissue-Derived Stem Cells in the Subcutaneous and Visceral A... מאת Sebastio Perrini, Romina Ficarella, Ernesto Picardi, Angelo Cignarelli, Maria Pia Foschino Barbaro, Pasquale Nigro, Alessandro Peschechera, Orazio Palumbo, Massimo Carella, Michele De Fazio, Annalisa Natalicchio, Luigi Laviola, Graziano Pesole, Francesco Giorgino
יצא לאור 2013Artigo -
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APOGEE 2: multi-layer machine-learning model for the interpretable prediction of mitochondrial missense variants מאת Salvatore Daniele Bianco, Luca Parca, Francesco Petrizzelli, Tommaso Biagini, Agnese Giovannetti, Niccolò Liorni, Alessandro Napoli, Massimo Carella, Vincent Procaccio, Marie T. Lott, Shiping Zhang, Angelo L. Vescovi, Douglas C. Wallace, Viviana Caputo, Tommaso Mazza
יצא לאור 2023Artigo -
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Mitochondrial DNA mutations in patients with postlingual, nonsyndromic hearing impairment מאת Howard T. Jacobs, Timothy Hutchin, Timo Käppi, Greta Gillies, Kia Minkkinen, John Walker, Karen Thompson, Anja T. Rovio, Massimo Carella, Salvatore Melchionda, Leopoldo Zelante, Paolo Gasparini, Ilmari Pyykkö, Zahid H. Shah, Massimo Zeviani, Robert F. Mueller
יצא לאור 2004Artigo
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