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.