Journal article

Heterozygous Germline Mutations in the CBL Tumor-Suppressor Gene Cause a Noonan Syndrome-like Phenotype

Simone Martinelli, Alessandro De Luca, Emilia Stellacci, Cesare Rossi, Saula Checquolo, Francesca Lepri, Viviana Caputo, Marianna Silvano, Francesco Buscherini, Federica Consoli, Grazia Ferrara, Maria C Digilio, Maria L Cavaliere, Johanna M van Hagen, Giuseppe Zampino, Ineke van der Burgt, Giovanni B Ferrero, Laura Mazzanti, Isabella Screpanti, Helger G Yntema Show all

American Journal of Human Genetics | CELL PRESS | Published : 2010

Grants

Awarded by Telethon-Italy


Awarded by Italian Ministry of Health


Awarded by National Institutes of Health


Awarded by March of Dimes


Awarded by NATIONAL HEART, LUNG, AND BLOOD INSTITUTE


Funding Acknowledgements

We are indebted to the patients and families who participated in the study, the physicians who referred the subjects, Serenella Venanzi (Istituto Superiore di Sanita, Rome, Italy) for experimental support, and Paolo Bazzicalupo and Elia Di Schiavi (Istituto di Genetica e Biofisica "A. Buzzati Traverso," Consiglio Nazionale delle Ricerche, Naples, Italy) for stimulating discussions. This research was funded by grants from Telethon-Italy (GGP10020) and "Associazione Italiana Sindromi di Costello e Cardiofaciocutanea" to M.T., from ERA-Net for research programmes on rare diseases 2009 (European network on Noonan Syndrome and related disorders) to M.T. and M.Z., from the Italian Ministry of Health (RC2010) to F.L., and from the National Institutes of Health (HL71207) and March of Dimes (FY 07-286) to B.D.G.