Colombo, Roberto

Colombo, Roberto  

ROMA - Dipartimento di Scienze biotecnologiche di base, cliniche intensivologiche e perioperatorie  

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Data di pubblicazione Titolo Autore(i) File
1-gen-2020 Correction to: Psychiatric disorders and SLC6A4 gene variants: possible effects on alcohol dependence and alzheimer's disease Calabrò, Marco; Mandelli, Laura; Crisafulli, Concetta; Porcelli, Stefano; Albani, Diego; Politis, Antonis; Papadimitriou, George N; Di Nicola, Marco; Janiri, Luigi; Colombo, Roberto; Martinotti, Giovanni; Bellomo, Antonello; Vieta, Eduard; Bonassi, Stefano; Frustaci, Alessandra; Ducci, Giuseppe; Landi, Stefano; Boccia, Stefania; Serretti, Alessandro
1-gen-2019 Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease Jolly, A; Bayram, Y; Turan, S; Aycan, Z; Tos, T; Abali, Zy; Hacihamdioglu, B; Akdemir, Zhc; Hijazi, H; Bas, S; Atay, Z; Guran, T; Abali, S; Bas, F; Darendeliler, F; Colombo, R; Barakat, Ts; Rinne, T; White, Jj; Yesil, G; Gezdirici, A; Gulec, Ey; Karaca, E; Pehlivan, D; Jhangiani, Sn; Muzny, Dm; Poyrazoglu, S; Bereket, A; Gibbs, Ra; Posey, Je; Lupski, Jr
1-gen-2019 Expanding the genetic and phenotypic spectrum of branched-chain amino acid transferase 2 deficiency Knerr, Ina; Colombo, Roberto; Urquhart, Jill; Morais, Ana; Merinero, Begona; Oyarzabal, Alfonso; Pérez, Belén; Jones, Simon A; Perveen, Rahat; Preece, Mary A; Rogers, Yvonne; Treacy, Eileen P; Mayne, Philip; Zampino, Giuseppe; MacKinnon, Sabrina; Wassmer, Evangeline; Yue, Wyatt W; Robinson, Ian; Rodríguez-Pombo, Pilar; Olpin, Simon E; Banka, Siddharth
1-gen-2019 Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations Youssefian, L.; Vahidnezhad, H.; Saeidian, A. H.; Pajouhanfar, S.; Sotoudeh, S.; Mansouri, P.; Amirkashani, D.; Zeinali, S.; Levine, M. A.; Peris, K.; Colombo, R.; Uitto, J.
1-gen-2019 MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants Wallace, S. E.; Regalado, E. S.; Gong, L.; Janda, A. L.; Guo, D. -C.; Russo, C. F.; Kulmacz, R. J.; Hanna, N.; Jondeau, G.; Boileau, C.; Arnaud, P.; Lee, K.; Leal, S. M.; Hannuksela, M.; Carlberg, B.; Johnston, T.; Antolik, C.; Hostetler, E. M.; Colombo, R.; Milewicz, D. M.
1-gen-2018 Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation Klammt, J.; Neumann, D.; Gevers, E. F.; Andrew, S. F.; Schwartz, I. D.; Rockstroh, D.; Colombo, R.; Sanchez, M. A.; Vokurkova, D.; Kowalczyk, J.; Metherell, L. A.; Rosenfeld, R. G.; Pfaffle, R.; Dattani, M. T.; Dauber, A.; Hwa, V.
1-gen-2017 Ca2+-binding protein 2 inhibits Ca2+-channel inactivation in mouse inner hair cells Picher, Maria Magdalena; Gehrt, Anna; Meese, Sandra; Ivanovic, Aleksandra; Predoehl, Friederike; Jung, Sangyong; Schrauwen, Isabelle; Dragonetti, Alberto Giulio; Colombo, Roberto; Van Camp, Guy; Strenzke, Nicola; Moser, Tobias
1-gen-2017 Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up Zech, Michael; Boesch, Sylvia; Jochim, Angela; Weber, Sandrina; Meindl, Tobias; Schormair, Barbara; Wieland, Thomas; Lunetta, Christian; Sansone, Valeria; Messner, Michael; Mueller, Joerg; Ceballos Baumann, Andres; Strom, Tim M.; Colombo, Roberto; Poewe, Werner; Haslinger, Bernhard; Winkelmann, Juliane
1-gen-2017 Pentraxin 3 in patients with severe sepsis or shock: the ALBIOS trial Caironi, Pietro; Masson, Serge; Mauri, Tommaso; Bottazzi, Barbara; Leone, Roberto; Magnoli, Michela; Barlera, Simona; Mamprin, Filippo; Fedele, Andrea; Mantovani, Alberto; Tognoni, Gianni; Pesenti, Antonio; Gattinoni, Luciano; Latini, Roberto; Bruzzone, Paola; Pagan, Francesca; Russo, Riccarda; Confalonieri, Andrea; Abbruzzese, Chiara; Vergnano, Beatrice; Faenza, Stefano; Siniscalchi, Antonio; Pierucci, Elisabetta; Noto, Andrea; Pezzi, Angelo; Spanu, Paolo; Parrini, Vieri; Oggioni, Roberto; Pasetti, Giovanni Stefano; Casadio, Maria Cinzia; Buontempo, Rosa; Carrer, Sara; Piccoli, Francesca; Rizzi, Tatiana; Caricato, Anselmo; La Sala, Monica; Antonaci, Alessandra; Fassini, Paola; Paganini, Silvia; Porta, Virginia; Moise, Gabriella; Marell, Silvia; Furia, Mirella; Urbano, Maria Cristina; Carobbi, Roberta; Poleni, Simona; Kandil, Hassan; Ballotta, Andrea; Bettini, Fabrizio; Sanseverino, Manlio; Gatta, Alessandro; Cecchini, Francesca; Guatteri, Luca; Ciceri, Gabriella; Raimondi, Ferdinando; Colombo, Roberto; Ferraris, Sandra; Borelli, Massimo; Bellato, Valentina; Cancellieri, Franco; Senni, Silvia; Bertocchi, Ester; Ferri, Paola; Moioli, Gianpietro; Molin, Alexandra; Salati, Giovanni; Salsi, Pierpaolo; Brunori, Emanuela; Elisei, Daniele; Maggio, Giuseppe; Nicola, Federico Guardia; Cavana, Marco; Morelli, Giacomo; Guarino, Arturo; Isetta, Michele; Tulli, Giorgio; Mangani, Valerio; Rossi, Nicola; Ferrari, Marta; Bona, Francesco; Vay, Monica; Bartoli, Teresa; Gallo, Mauro; Vettoretto, Katiuscia; Della Morte, Mauro; Boselli, Enrico; Puscio, Daniela; Bovo, Monia; Galzerano, Antonio; Carli, Manuela; Zagara, Giovanni
1-gen-2017 Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases Maas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Kalkan Ucar, Sema; Alhaddad, Bader; Alsayed, Moeenaldeen; Al-Owain, Mohammed A.; Al-Zaidan, Hamad I.; Balasubramaniam, Shanti; Barić, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hörster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A.; Mcclean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.; Wortmann, Saskia B.
1-gen-2016 Whole-exome sequencing of familial cases of multiple morphological abnormalities of the sperm flagella (MMAF) reveals new DNAH1 mutations Amiri Yekta, A; Coutton, C; Kherraf, Ze; Karaouzène, T; Le Tanno, P; Sanati, Mh; Sabbaghian, M; Almadani, N; Sadighi Gilani, Ma; Hosseini, Sh; Bahrami, S; Daneshipour, A; Bini, M; Arnoult, C; Colombo, Roberto; Gourabi, H; Ray, Pf
1-gen-2012 Bipolar disorder: "pure" versus mixed depression over a 1-year follow-up Mazza, Marianna; Mandelli, L; Zaninotto, Leonardo; Di Nicola, Marco; Martinotti, Giovanni; Harnic, Desiree; Bruschi, Angelo; Catalano, Valeria; Tedeschi, Daniela; Colombo, Roberto; Bria, Pietro; Serretti, A; Janiri, Luigi
1-gen-2012 Bipolar disorder: "pure" versus mixed depression over a 1-year follow-up Mazza, Marianna; Mandelli, L; Zaninotto, Leonardo; Nicola, Md; Martinotti, Giovanni; Harnic, Desiree; Bruschi, Angelo; Catalano, Valeria; Tedeschi, Daniela; Colombo, Roberto; Bria, Pietro; Serretti, A; Janiri, Luigi
1-gen-2011 Bipolar disorder: "pure" versus mixed depression over a 1-year follow-up. Mazza, Marianna; Mandelli, L; Zaninotto, Leonardo; Di Nicola, Marco; Martinotti, Giovanni; Harnic, Desiree; Bruschi, Angelo; Catalano, Valeria; Tedeschi, Daniela; Colombo, Roberto; Bria, Pietro; Serretti, Sara; Janiri, Luigi
1-gen-2011 Factors associated with the course of symptoms in bipolar disorder during a 1-year follow-up: depression vs. sub-threshold mixed state Mazza, Marianna; Mandelli, L; Zaninotto, Leonardo; Nicola, Md; Martinotti, Giovanni; Harnic, Desiree; Bruschi, Angelo; Catalano, Valeria; Tedeschi, Daniela; Colombo, Roberto; Bria, Pietro; Serretti, A; Janiri, Luigi
1-gen-2011 PRELIMINARY ANALYSIS OF GENES INVOLVED IN INFLAMMATORY, OXIDATIVE PROCESSES AND CA2+SIGNALING IN BIPOLAR DISORDER AND COMORBIDITY FOR SUBSTANCE USE DISORDER Mandelli, L; Mazza, Marianna; Marangoni, C; Di Nicola, Marco; Martinotti, Giovanni; Tavian, Daniela; Colombo, Elisa; Missaglia, Sara; Negri, Gloria; De Ronchi, D; Colombo, Roberto; Janiri, Luigi; Serretti, A.
1-gen-2011 Serotoninergic and dopaminergic genes in bipolar disorder and response to treatments in bipolar depression. Investigation on a well-characterized naturalistic sample Mandelli, L; Mazza, Marianna; Di Nicola, Marco; Martinotti, Giovanni; Tavian, Daniela; Colombo, Elisa; Missaglia, Sara; Negri, Gloria; De Ronchi, D; Colombo, Roberto; Janiri, Luigi; Serretti, A.
1-gen-2010 Clinical and genetic characterization of Chanarin-Dorfman Syndrome patients: first report of large deletions in the ABHD5 Redaelli, Chiara; Coleman, Rosalind A.; Moro, Laura; Dacou Voutetakis, Catherine; Elsayed, Sm; Prati, Daniele; Colli, Alessandro; Mela, Donatella; Colombo, Roberto; Tavian, Daniela
1-gen-2010 Further evidence supporting the association between 5HTR2C gene and bipolar disorder Mazza, Marianna; Mandelli, L; Martinotti, Giovanni; Di Nicola, Marco; Tavian, Daniela; Negri, Gloria; Colombo, Elisa; Missaglia, Sara; De Ronchi, D; Colombo, Roberto; Janiri, Luigi; Serretti, A.
1-gen-2010 Further evidence supporting the influence of brain-derived neurotrophic factor on the outcome of bipolar depression: independent effect of brain-derived neurotrophic factor and harm avoidance Mandelli, L; Mazza, Marianna; Martinotti, Giovanni; Tavian, Daniela; Colombo, Elisa; Missaglia, Sara; Di Nicola, Marco; De Ronchi, D; Negri, Gloria; Colombo, Roberto; Janiri, Luigi; Serretti, A.