Pubblicazioni

Oxidative signature of cerebrospinal fluid from mild cognitive impairment and Alzheimer disease patients

2016 - FREE RADICAL BIOLOGY & MEDICINE
Di Domenico, Fabio; Pupo, Gilda; Giraldo, Esther; Badìa, Mari-Carmen; Monllor, Paloma; Lloret, Ana; Eugenia Schininà, Maria; Giorgi, Alessandra; Cini, Chiara; Tramutola, Antonella; Butterfield, D. Allan; Viña, José; Perluigi, Marzia

Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16

2016 - BIRTH DEFECTS RESEARCH. PART A, CLINICAL AND MOLECULAR TERATOLOGY
CASTORI, MARCO; BOTTILLO, IRENE; Morlino, Silvia; BARONE, CHIARA; Cascone, Piero; Grammatico, Paola; Laino, Luigi; Polimeni, Antonella; Pizzuti, Antonio; Silvestri, Alessandro; Roggini, Mario; Tarani, Luigi; Papoff, Paola; Giancotti, Antonella; Manganaro, Lucia; Lenzi, Jacopo; Sforzolini, Giovanna Scassellati

Molecular characterization of 7 patients affected by dys- or hypo-dysfibrinogenemia: Identification of a novel mutation in the fibrinogen Bbeta chain causing a gain of glycosylation

2015 - THROMBOSIS RESEARCH
Asselta, Rosanna; Robusto, Michela; Platé, Manuela; Santoro, Cristina; Peyvandi, Flora; Duga, Stefano

Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1

2015 - JOURNAL OF CELLULAR AND MOLECULAR MEDICINE
Circelli, Luisa; Ramundo, Valeria; Marotta, Vincenzo; Sciammarella, Concetta; Marciello, Francesca; Del Prete, Michela; Sabatino, Lina; Pasquali, Daniela; Izzo, Francesco; Scala, Stefania; Colao, Annamaria; Faggiano, Antongiulio; Colantuoni, Vittorio

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