Pubblicazioni

A molecular study of pediatric spindle and sclerosing rhabdomyosarcoma identification of novel and recurrent VGLL2-related fusions in infantile cases

2016 - THE AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Alaggio, Rita; Zhang, Lei; Sung, Yun Shao; Huang, Shih Chiang; Chen, Chun Liang; Bisogno, Gianni; Zin, Angelica; Agaram, Narasimhan P.; Laquaglia, Michael P.; Wexler, Leonard H.; Antonescu, Cristina R.

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

Keppen-lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6

2015 - AMERICAN JOURNAL OF HUMAN GENETICS

Masotti, Andrea; Uva, Paolo; Davis Keppen, Laura; Basel Vanagaite, Lina; Cohen, Lior; Pisaneschi, Elisa; Celluzzi, Antonella; Bencivenga, Paola; Fang, Mingyan; Tian, Mingyu; Xu, Xun; Cappa, Marco; Dallapiccola, Bruno

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