Pubblicazioni

The pathological Trento variant of alpha-1-antitrypsin (E75V) shows nonclassical behaviour during polymerization

2017 - THE FEBS JOURNAL

MIRANDA BANOS, MARIA ELENA; Ferrarotti, Ilaria; Berardelli, Romina; Laffranchi, Mattia; Cerea, Marta; Gangemi, Fabrizio; Haq, Imran; Ottaviani, Stefania; Lomas, David A.; Irving, James A.; Fra, Annamaria

Treatment in EGFR-mutated non-small cell lung cancer: how to block the receptor and overcome resistance mechanisms

2017 - TUMORI

Proto, Claudia; Lo Russo, Giuseppe; Corrao, Giulia; Ganzinelli, Monica; Facchinetti, Francesco; Minari, Roberta; Tiseo, Marcello; Garassino, Marina Chiara

Ferric uptake regulator Fur is conditionally essential in Pseudomonas aeruginosa

2017 - JOURNAL OF BACTERIOLOGY

Pasqua, Martina; Visaggio, Daniela; Lo Sciuto, Alessandra; Genah, Shirley; Banin, Ehud; Visca, Paolo; Imperi, Francesco

Establishment and long-term culture of human cystic fibrosis endothelial cells

2017 - LABORATORY INVESTIGATION

Plebani, Roberto; Tripaldi, Romina; Lanuti, Paola; Recchiuti, Antonio; Patruno, Sara; Di Silvestre, Sara; Simeone, Pasquale; Anile, Marco; Venuta, Federico; Prioletta, Marco; Mucilli, Felice; Del Porto, Paola; Marchisio, Marco; Pandolfi, Assunta; Romano, Mario

Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers

2017 - JOURNAL OF THE NATIONAL CANCER INSTITUTE

Kuchenbaecker, Karoline B.; Mcguffog, Lesley; Barrowdale, Daniel; Lee, Andrew; Soucy, Penny; Healey, Sue; Dennis, Joe; Lush, Michael; Robson, Mark; Spurdle, Amanda B.; Ramus, Susan J.; Mavaddat, Nasim; Beth Terry, Mary; Neuhausen, Susan L.; Hamann, Ute; Southey, Melissa; John, Esther M.; Chung, Wendy K.; Daly, Mary B.; Buys, Saundra S.; Goldgar, David E.; Dorfling, Cecilia M.; van Rensburg, Elizabeth J.; Chun Ding, Yuan; Ejlertsen, Bent; Gerdes, Anne-Marie; Hansen, Thomas V. O.; Slager, Susan; Hallberg, Emily; Benitez, Javier; Osorio, Ana; Cohen, Nancy; Lawler, William; Weitzel, Jeffrey N.; Peterlongo, Paolo; Pensotti, Valeria; Dolcetti, Riccardo; Barile, Monica; Bonanni, Bernardo; Azzollini, Jacopo; Manoukian, Siranoush; Peissel, Bernard; Radice, Paolo; Savarese, Antonella; Papi, Laura; Giannini, Giuseppe; Fostira, Florentia; Konstantopoulou, Irene; Adlard, Julian; Brewer, Carole; Cook, Jackie; Davidson, Rosemarie; Eccles, Diana; Eeles, Ros; Ellis, Steve; Embrace, ; Frost, Debra; Hodgson, Shirley; Izatt, Louise; Lalloo, Fiona; Ong, Kai-ren; Godwin, Andrew K.; Arnold, Norbert; Dworniczak, Bernd; Engel, Christoph; Gehrig, Andrea; Hahnen, Eric; Hauke, Jan; Kast, Karin; Meindl, Alfons; Niederacher, Dieter; Katharina Schmutzler, Rita; Varon-Mateeva, Raymonda; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Barjhoux, Laure; Collonge-Rame, Marie-Agne`s; Elan, Camille; Study Collaborators, Gemo; Golmard, Lisa; Barouk-Simonet, Emmanuelle; Lesueur, Fabienne; Mazoyer, Sylvie; Sokolowska, Joanna; Stoppa- Lyonnet, Dominique; Isaacs, Claudine; Claes, Kathleen B. M.; Poppe, Bruce; de la Hoya, Miguel; Garcia-Barberan, Vanesa; Aittomâ¬aki, Kristiina; Nevanlinna, Heli; Ausems, Margreet G. E. M.; de Lange, J. L.; Gomez Garcia, Encarna B.; Hebon, ; Hogervorst, Frans B. L.; Kets, Carolien M.; Meijers-Heijboer, Hanne E. J.; Oosterwijk, Jan C.; Rookus, Matti A.; van Asperen, Christi J.; van den Ouweland, Ans M. W.; van Doorn, Helena C.; van Os, Theo A. M.; Kwong, Ava; Olah, Edith; Diez, Orland; Brunet, Joan; Lazaro, Conxi; TeuleÂ´, Alex; Gronwald, Jacek; Jakubowska, Anna; Kaczmarek, Katarzyna; Lubinski, Jan; Sukiennicki, Grzegorz; Barkardottir, Rosa B.; Chiquette, Jocelyne; Agata, Simona; Montagna, Marco; Teixeira, Manuel R.; Investigators, Kconfab; Kyung Park, Sue; Olswold, Curtis; Tischkowitz, Marc; Foretova, Lenka; Gaddam, Pragna; Vijai, Joseph; Pfeiler, Georg; Rappaport-Fuerhauser, Christine; Singer, Christian F.; Tea, Muy-Kheng M.; Greene, Mark H.; Loud, Jennifer T.; Rennert, Gad; Imyanitov, Evgeny N.; Hulick, Peter J.; Hays, John L.; Piedmonte, Marion; Rodriguez, Gustavo C.; Martyn, Julie; Glendon, Gord; Marie Mulligan, Anna; Andrulis, Irene L.; Ewart Toland, Amanda; Birk Jensen, Uffe; Kruse, Torben A.; Sokilde Pedersen, Inge; Thomassen, Mads; Caligo, Maria A.; Teo, Soo-Hwang; Berger, Raanan; Friedman, Eitan; Laitman, Yael; Arver, Brita; Borg, Ake; Ehrencrona, Hans; Rantala, Johanna; Olopade, Olufunmilayo I.; Ganz, Patricia A.; Nussbaum, Robert L.; Bradbury, Angela R.; Domchek, Susan M.; Nathanson, Katherine L.; Arun, Banu K.; James, Paul; Karlan, Beth Y.; Lester, Jenny; Simard, Jacques; Pharoah, Paul D. P.; Offit, Kenneth; Couch, Fergus J.; Chenevix-Trench, Georgia; Easton, Douglas F.; Antoniou, Antonis C.

The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations

2017 - EPILEPSY & BEHAVIOR

Michelucci, Roberto; Pulitano, Patrizia; Di Bonaventura, Carlo; Binelli, Simona; Luisi, Concetta; Pasini, Elena; Striano, Salvatore; Striano, Pasquale; Coppola, Giangennaro; La Neve, Angela; Giallonardo, Anna Teresa; Mecarelli, Oriano; Serioli, Elena; Dazzo, Emanuela; Fanciulli, Manuela; Nobile, Carlo

Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease

2017 - INFLAMMATORY BOWEL DISEASES

Conrad, MÃ¡ire A; Dawany, Noor; Sullivan, Kathleen E.; Devoto, Marcella; Kelsen, Judith R.

Establishment of an orthotopic patient-derived xenograft mouse model using uveal melanoma hepatic metastasis

2017 - JOURNAL OF TRANSLATIONAL MEDICINE

Kageyama, K; Ohara, M; Saito, K; Ozaki, S; Terai, M; Mastrangelo, Mj; Fortina, P; Aplin, Ae; Sato, T

Detection of activating estrogen receptor gene (ESR1) mutations in single circulating tumor cells

2017 - CLINICAL CANCER RESEARCH

Paolillo, C; Mu, Z; Rossi, G; Schiewer, Mj; Nguyen, T; Austin, L; Capoluongo, E; Knudsen, K; Cristofanilli, M; Fortina, P.

Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

2017 - EUROPEAN JOURNAL OF HUMAN GENETICS

Youssefian, L; Vahidnezhad, H; Saeidian, Ah; Sotoudeh, S; Mahmoudi, H; Daneshpazhooh, M; Aghazadeh, N; Adams, R; Ghanadan, A; Zeinali, S; Fortina, P; Uitto, J.

Familial diabetes of adulthood: A bin of ignorance that needs to be addressed

2017 - NMCD. NUTRITION METABOLISM AND CARDIOVASCULAR DISEASES

Prudente, S.; Ludovico, O.; Trischitta, V.

Spinal motor neuron protein supersaturation patterns are associated with inclusion body formation in ALS

2017 - PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ciryam, Prajwal; Lambert-Smith, Isabella A.; Bean, Daniel M.; Freer, Rosie; Cid, Fernando; Tartaglia, Gian Gaetano; Saunders, Darren N.; Wilson, Mark R.; Oliver, Stephen G.; Morimoto, Richard I.; Dobson, Christopher M.; Vendruscolo, Michele; Favrin, Giorgio; Yerbury, Justin J.

Monascus purpureus for statin and ezetimibe intolerant heterozygous familial hypercholesterolaemia patients: A clinical study

2017 - ATHEROSCLEROSIS SUPPLEMENTS

Stefanutti, C.; Mazza, F.; Mesce, D.; Morozzi, C.; Di Giacomo, S.; Vitale, M.; Pergolini, M.

Targeted Next Generation Sequencing in patients with Myotonia Congenita

2017 - CLINICA CHIMICA ACTA

Ferradini, V.; Cassone, M.; Nuovo, S.; Bagni, I.; D'Apice, M. R.; Botta, A.; Novelli, G.; Sangiuolo, F.

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

2017 - EUROPEAN RADIOLOGY

Romaniello, R.; Arrigoni, F.; Panzeri, E.; Poretti, A.; Micalizzi, A.; Citterio, A.; Bedeschi, M. F.; Berardinelli, A.; Cusmai, R.; D'Arrigo, S.; Ferraris, A.; Hackenberg, A.; Kuechler, A.; Mancardi, M.; Nuovo, S.; Oehl-Jaschkowitz, B.; Rossi, A.; Signorini, S.; Tuttelmann, F.; Wahl, D.; Hehr, U.; Boltshauser, E.; Bassi, M. T.; Valente, E. M.; Borgatti, R.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

2017 - AMERICAN JOURNAL OF HUMAN GENETICS

Hamdan, Fadi F.; Myers, Candace T.; Cossette, Patrick; Lemay, Philippe; Spiegelman, Dan; Laporte, Alexandre Dionne; Nassif, Christina; Diallo, Ousmane; Monlong, Jean; Cadieux-Dion, Maxime; Dobrzeniecka, Sylvia; Meloche, Caroline; Retterer, Kyle; Cho, Megan T.; Rosenfeld, Jill A.; Bi, Weimin; Massicotte, Christine; Miguet, Marguerite; Brunga, Ledia; Regan, Brigid M.; Mo, Kelly; Tam, Cory; Schneider, Amy; Hollingsworth, Georgie; FitzPatrick, David R.; Donaldson, Alan; Canham, Natalie; Blair, Edward; Kerr, Bronwyn; Fry, Andrew E.; Thomas, Rhys H.; Shelagh, Joss; Hurst, Jane A.; Brittain, Helen; Blyth, Moira; Lebel, Robert Roger; Gerkes, Erica H.; Davis-Keppen, Laura; Stein, Quinn; Chung, Wendy K.; Dorison, Sara J.; Benke, Paul J.; Fassi, Emily; Corsten-Janssen, Nicole; Kamsteeg, Erik-Jan; Mau-Them, Frederic T.; Bruel, Ange-Line; Verloes, Alain; Ãâ¢unap, Katrin; Wojcik, Monica H.; Albert, Dara V. F; Venkateswaran, Sunita; Ware, Tyson; Jones, Dean; Liu, Yu-Chi; Mohammad, Shekeeb S.; Bizargity, Peyman; Bacino, Carlos A.; Leuzzi, Vincenzo; Martinelli, Simone; Dallapiccola, Bruno; Tartaglia, Marco; Blumkin, Lubov; Wierenga, Klaas J.; Purcarin, Gabriela; O'Byrne, James J.; Stockler, Sylvia; Lehman, Anna; Keren, Boris; Nougues, Marie-Christine; Mignot, Cyril; Auvin, StÃÂ©phane; Nava, Caroline; Hiatt, Susan M.; Bebin, Martina; Shao, Yunru; Scaglia, Fernando; Lalani, Seema R.; Frye, Richard E.; Jarjour, Imad T.; Jacques, StÃÂ©phanie; Boucher, Renee-Myriam; Riou, Emilie; Srour, Myriam; Carmant, Lionel; Lortie, Anne; Major, Philippe; Diadori, Paola; Dubeau, FranÃÂ§ois; D'Anjou, Guy; Bourque, Guillaume; Berkovic, Samuel F.; Sadleir, Lynette G.; Campeau, Philippe M.; Kibar, Zoha; LafreniÃre, Ronald G.; Girard, Simon L.; Mercimek-Mahmutoglu, Saadet; Boelman, Cyrus; Rouleau, Guy A.; Scheffer, Ingrid E.; Mefford, Heather C.; Andrade, Danielle M.; Rossignol, Elsa; Minassian, Berge A.; Michaud, Jacques L.

The Met80Ala and Tyr67His/Met80Ala mutants of human cytochrome c shed light on the reciprocal role of Met80 and Tyr67 in regulating ligand access into the heme pocket

2017 - JOURNAL OF INORGANIC BIOCHEMISTRY

Cervelli, Manuela; Mariottini, Paolo; Smulevich, Giulietta; Coletta, Massimo; Fiorucci, Laura; Battista, Theo

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