Pubblicazioni

RAP1-GTPase signaling and platelet function

2018 - JOURNAL OF MOLECULAR MEDICINE

Stefanini, Lucia; Bergmeier, Wolfgang

Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia

2018 - EUROPEAN JOURNAL OF HUMAN GENETICS

DâAndrea, Elvira; Lagerberg, Tyra; de Vito, Corrado; Pitini, Erica; Marzuillo, Carolina; Massimi, Azzurra; Vacchio, Maria Rosaria; Grammatico, Paola; Villari, Paolo

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency

2018 - CLINICAL GENETICS

Dentici, Maria Lisa; Barresi, Sabina; Niceta, Marcello; Pantaleoni, Francesca; Pizzi, Simone; Dallapiccola, Bruno; Tartaglia, Marco; Digilio, Maria Cristina

Whole exome sequencing identifies a germline MET mutation in two siblings with hereditary wild-type RET medullary thyroid cancer

2018 - HUMAN MUTATION

Sponziello, Marialuisa; Benvenuti, Silvia; Gentile, Alessandra; Pecce, Valeria; Rosignolo, Francesca; VirzÃ¬, Anna Rita; Milan, Melissa; Comoglio, Paolo M.; Londin, Eric; Fortina, Paolo; Barnabei, Agnese; Appetecchia, Marialuisa; Marandino, Ferdinando; Russo, Diego; Filetti, Sebastiano; Durante, Cosimo; Verrienti, Antonella

KAT3B-p300 and H3AcK18/H3AcK14 levels are prognostic markers for kidney ccRCC tumor aggressiveness and target of KAT inhibitor CPTH2

2018 - CLINICAL EPIGENETICS

Cocco, Elisa; Leo, Manuela; Canzonetta, Claudia; Di Vito, Serena; Mai, Antonello; Rotili, Dante; Di Napoli, Arianna; Vecchione, Andrea; De Nunzio, Cosimo; Filetici, Patrizia; Stoppacciaro, Antonella

Study of the effects of 0.15 terahertz radiation on genome integrity of adult fibroblasts

2018 - ENVIRONMENTAL AND MOLECULAR MUTAGENESIS

Franchini, Valeria; De Sanctis, Stefania; Marinaccio, Jessica; De Amicis, Andrea; Coluzzi, Elisa; Di Cristofaro, Sara; Lista, Florigio; Regalbuto, Elisa; Doria, Andrea; Giovenale, Emilio; Gallerano, Gian Piero; Bei, Roberto; Benvenuto, Monica; Masuelli, Laura; Udroiu, Ion; Sgura, Antonella

Congenital heart diseases and cardiovascular abnormalities in 22q11.2 deletion syndrome: From well-established knowledge to new frontiers

2018 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Unolt, Marta; Versacci, Paolo; Anaclerio, Silvia; Lambiase, Caterina; Calcagni, Giulio; Trezzi, Matteo; Carotti, Adriano; Crowley, Terrence Blaine; Zackai, Elaine H.; Goldmuntz, Elizabeth; Gaynor, James William; Digilio, Maria Cristina; Mcdonald-Mcginn, Donna M.; Marino, Bruno

Can untreated PKU patients escape from intellectual disability? A systematic review

2018 - ORPHANET JOURNAL OF RARE DISEASES

Van Vliet, Danique; Van Wegberg, Annemiek M. J.; Ahring, Kirsten; Bik-Multanowski, Miroslaw; Blau, Nenad; Bulut, Fatma D.; Casas, Kari; Didycz, Bozena; Djordjevic, Maja; Federico, Antonio; Feillet, FranÃ§ois; Gizewska, Maria; Gramer, Gwendolyn; Hertecant, Jozef L.; Hollak, Carla E. M.; JÃ¸rgensen, Jens V.; Karall, Daniela; Landau, Yuval; Leuzzi, Vincenzo; Mathisen, Per; Moseley, Kathryn; Mungan, Neslihan Ã.; Nardecchia, Francesca; Ãunap, Katrin; Powell, Kimberly K.; Ramachandran, Radha; Rutsch, Frank; Setoodeh, Aria; Stojiljkovic, Maja; Trefz, Fritz K.; Usurelu, Natalia; Wilson, Callum; Van Karnebeek, Clara D.; Hanley, William B.; Van Spronsen, Francjan J.

Exploring relationships between joint hypermobility and neurodevelopment in children (4â13 years) with hereditary connective tissue disorders and developmental coordination disorder

2018 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART B, NEUROPSYCHIATRIC GENETICS

Piedimonte, Caterina; Penge, Roberta; Morlino, Silvia; Sperduti, Isabella; Terzani, Andrea; Giannini, Maria Teresa; Colombi, Marina; Grammatico, Paola; Cardona, Francesco; Castori, Marco

Network-based approaches to explore complex biological systems towards network medicine

2018 - GENES

Fiscon, Giulia; Conte, Federica; Farina, Lorenzo; Paci, Paola

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

2018 - ORPHANET JOURNAL OF RARE DISEASES

Callea, F; Giovannoni, I; Francalanci, P; Boldrini, R; Faa, G; Medicina, D; Nobili, V; Desmet, Vj; Ishak, K; Seyama, K; Bellacchio, E.

First case of nonalcoholic steatohepatitis in a child with del(1p36) and dup (Xp22): Review of the literature

2018 - CLINICAL DYSMORPHOLOGY

Nobili, V; Mosca, A; Francalanci, P; D'Ercole, MARIA CRISTINA; Dallapiccola, B.

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

2018 - AMERICAN JOURNAL OF HUMAN GENETICS

Bauer, Christiane K.; Calligari, Paolo; Radio, Francesca Clementina; Caputo, Viviana; Dentici, Maria Lisa; Falah, Nadia; High, Frances; Pantaleoni, Francesca; Barresi, Sabina; Ciolfi, Andrea; Pizzi, Simone; Bruselles, Alessandro; Person, Richard; Richards, Sarah; Cho, Megan T.; Claps Sepulveda, Daniela J.; Pro, Stefano; Battini, Roberta; Zampino, Giuseppe; Digilio, Maria Cristina; Bocchinfuso, Gianfranco; Dallapiccola, Bruno; Stella, Lorenzo; Tartaglia, Marco

A synonymous RET substitution enhances the oncogenic effect of an in-cis missense mutation by increasing constitutive splicing efficiency

2018 - PLOS GENETICS

Pecce, Valeria; Sponziello, Marialuisa; Damante, Giuseppe; Rosignolo, Francesca; Durante, Cosimo; Lamartina, Livia; Grani, Giorgio; Russo, Diego; di Gioia, Cira Rosaria; Filetti, Sebastiano; Verrienti, Antonella

Commentary: The histone demethylase Phf2 acts as a molecular checkpoint to prevent NAFLD progression during obesity

2018 - FRONTIERS IN GENETICS

Barbaro, Barbara; Romito, Ilaria; Alisi, Anna

Primary lymphedema and other lymphatic anomalies are associated with 22q11.2 deletion syndrome

2018 - EUROPEAN JOURNAL OF MEDICAL GENETICS

Unolt, Marta; Barry, Jessica; Digilio, Maria Cristina; Marino, Bruno; Bassett, Anne; Oechslin, Erwin; Low, David W.; Belasco, Jean B.; Kallish, Staci; Sullivan, Kathleen; Zackai, Elaine H.; McDonald-McGinn, Donna M.

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

2018 - EUROPEAN JOURNAL OF HUMAN GENETICS

Brancati, Francesco; Camerota, Letizia; Colao, Emma; Vega-Warner, Virginia; Zhao, Xiangzhong; Zhang, Ruixiao; Bottillo, Irene; Castori, Marco; Caglioti, Alfredo; Sangiuolo, Federica; Novelli, Giuseppe; Perrotti, Nicola; Otto, Edgar A.; Taruscio, Domenica; Salvatore, Marco; De Stefano, Maria Chiara; Censi, Federica; Floridia, Giovanna; Brancati, Francesco; Daina, Erica; Iatropoulos, Paraskevas; Ferlini, Alessandra; Roccatello, Dario; Baldovino, Simone; Menegatti, Elisa; Bembi, Bruno