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; BadÃÂ¬a, Mari-Carmen; Monllor, Paloma; Lloret, Ana; Eugenia SchininÃ , Maria; Giorgi, Alessandra; Cini, Chiara; Tramutola, Antonella; Butterfield, D. Allan; ViÃÂ±a, JosÃÂ©; Perluigi, Marzia

Variability in a three-generation family with pierre robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel â¼1 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

Role of CGH array in the diagnosis of autosomal recessive disease: A case of Ellis-van Creveld syndrome

2015 - PRENATAL DIAGNOSIS

D'Ambrosio, Valentina; Votino, Carmela; Cos, Teresa; Boulanger, Sebastien; Dheedene, Annelies; Jani, Jacques; Keymolen, Kathelijn

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

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