Risultati ricerca pubblicazioni

Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

pubblicato su: AMERICAN JOURNAL OF HUMAN GENETICS - 2018

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

LTBP2-related “Marfan-like” phenotype in two Roma/Gypsy subjects with the LTBP2 homozygous p.R299X variant

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2019

Morlino Silvia, Alesi Viola, Calì Federica, Lepri Francesca Romana, Secinaro Aurelio, Grammatico Paola, Novelli Antonio, Drago Fabrizio, Castori Marco, Baban Anwar

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

pubblicato su: EUROPEAN JOURNAL OF HUMAN GENETICS - 2018

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

Exploring relationships between joint hypermobility and neurodevelopment in children (4–13 years) with hereditary connective tissue disorders and developmental coordination disorder

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

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

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

pubblicato su: CLINICAL EPIGENETICS - 2018

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

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

pubblicato su: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A - 2018

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

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

pubblicato su: EUROPEAN JOURNAL OF MEDICAL GENETICS - 2018

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.

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

pubblicato su: GENES - 2018

Fiscon Giulia, Conte Federica, Farina Lorenzo, Paci Paola