Pubblicazioni

When to test fetuses for RASopathies? Proposition from a systematic analysis of 352 multicenter cases and a postnatal cohort

2021 - GENETICS IN MEDICINE

Scott, A.; Di Giosaffatte, N.; Pinna, V.; Daniele, P.; Corno, S.; D'Ambrosio, V.; Andreucci, E.; Marozza, A.; Sirchia, F.; Tortora, G.; Mangiameli, D.; Di Marco, C.; Romagnoli, M.; Donati, I.; Zonta, A.; Grosso, E.; Naretto, V. G.; Mastromoro, G.; Versacci, P.; Pantaleoni, F.; Radio, F. C.; Mazza, T.; Damante, G.; Papi, L.; Mattina, T.; Giancotti, A.; Pizzuti, A.; Laberge, A. -M.; Tartaglia, M.; Delrue, M. -A.; De Luca, A.

ERÎ± PvuII and XbaI polymorphisms in postmenopausal women with posterior tibial tendon dysfunction: a case control study

2018 - JOURNAL OF ORTHOPAEDIC SURGERY AND RESEARCH

Pontin, P A; Nogara, P R B; Fonseca, F C P; Cesar Netto, C; Carvalho, K C; Soares Junior, J M; Baracat, E C; Fernandes, T D; Maffulli, N; Santos, M C L; Godoy-Santos, A L

The role of tau in the pathological process and clinical expression of Huntington's disease

2015 - BRAIN

Vuono, Romina; Winder Rhodes, Sophie; De Silva, Rohan; Cisbani, Giulia; Drouin Ouellet, Janelle; Registry, Investigators of the European Huntingtonâs Disease Network; Romano, Silvia; Spillantini, Maria G.; Cicchetti, Francesca; Barker, Roger A.

Hypoplastic left heart syndrome and 21q22.3 deletion

2015 - AMERICAN JOURNAL OF MEDICAL GENETICS. PART A

Ciocca, Laura; Digilio, M. Cristina; Lombardo, Antonietta; D'Elia, Gemma; Baban, Anwar; Capolino, Rossella; Petrocchi, Stefano; Russo, Serena; Sirleto, Pietro; Roberti, M. Cristina; Marino, Bruno; Angioni, Adriano; Dallapiccola, Bruno

A meta-analysis of somatic KCNJ5 K<sup>+</sup> channel mutations in 1636 patients with an aldosterone-producing adenoma

2015 - THE JOURNAL OF CLINICAL ENDOCRINOLOGY AND METABOLISM

Lenzini, Livia; Rossitto, Giacomo; Maiolino, Giuseppe; Letizia, Claudio; Funder, John W.; Rossi, Gian Paolo