Pubblicazioni

Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species

2022 - HUMAN MOLECULAR GENETICS

Carpentieri, G.; Leoni, C.; Pietraforte, D.; Cecchetti, S.; Iorio, E.; Belardo, A.; Pietrucci, D.; Di Nottia, M.; Pajalunga, D.; Megiorni, F.; Mercurio, L.; Tatti, M.; Camero, S.; Marchese, C.; Rizza, T.; Tirelli, V.; Onesimo, R.; Carrozzo, R.; Rinalducci, S.; Chillemi, G.; Zampino, G.; Tartaglia, M.; Flex, E.

GLI1 inactivation is associated with developmental phenotypes overlapping with Ellis-van Creveld syndrome

2017 - HUMAN MOLECULAR GENETICS

Palencia-Campos, A.; Ullah, A.; Nevado, J.; Yildirim, R.; Unal, E.; Ciorraga, M.; Barruz, P.; Chico, L.; Piceci-Sparascio, F.; Guida, V.; De Luca, A.; Kayserili, H.; Ullah, I.; Burmeister, M.; Lapunzina, P.; Ahmad, W.; Morales, A. V.; Ruiz-Perez, V. L.