Zampino, Giuseppe

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease

Tartaglia, M., Martinelli, S., Stella, L., Bocchinfuso, G., Flex, E., Cordeddu, V., Zampino, G., van der Burgt, I., Palleschi, A., Petrucci, T. C., et al. (2006) · The American Journal of Human Genetics

Protein Tyrosine PhosphatasesProtein Kinase Regulation and GTPase Signaling

Cited by 415

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum

Sarkozy, A., Carta, C., Moretti, S., Zampino, G., Digilio, M. C., Pantaleoni, F., Scioletti, A. P., Esposito, G., Cordeddu, V., Lepri, F., et al. (2009) · Human Mutation

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 303

Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype

Martinelli, S., De Luca, A., Stellacci, E., Rossi, C., Checquolo, S., Lepri, F., Caputo, V., Silvano, M., Buscherini, F., Consoli, F., et al. (2010) · The American Journal of Human Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 259

Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade

Cesarini, L., Alfieri, P., Pantaleoni, F., Vasta, I., Cerutti, M., Petrangeli, V., Mariotti, P., Leoni, C., Ricci, D., Vicari, S., et al. (2009) · American Journal of Medical Genetics Part A

Protein Tyrosine PhosphatasesGenetics and Neurodevelopmental Disorders

Cited by 98

Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome

Vissers, L. E., Bonetti, M., Paardekooper Overman, J., Nillesen, W. M., Frints, S. G. M., de Ligt, J., Zampino, G., Justino, A., Machado, J. C., Schepens, M., et al. (2015) · European Journal of Human Genetics

Protein Tyrosine PhosphatasesGenomics and Rare Diseases

Cited by 75

A randomized, double-blind, placebo-controlled phase II trial to explore the effects of a GABAA-α5 NAM (basmisanil) on intellectual disability associated with Down syndrome

Goeldner, C., Kishnani, P. S., Skotko, B. G., Casero, J. L., Hipp, J. F., Derks, M., Hernandez, M.-C., Khwaja, O., Lennon-Chrimes, S., Noeldeke, J., et al. (2022) · Journal of Neurodevelopmental Disorders

Down syndrome and intellectual disability researchAlzheimer's disease research and treatments

Cited by 48

Endocrinologic Dysfunctions and Neuropsychiatric Sequelae in Pediatric Patients with a History of Central Nervous System Infection (ENDLESS): A Prospective Monocentric Study

Sodero, G., Cipolla, C., Camporesi, A., Martino, L., Costa, S., Cannioto, Z., Frassanito, P., Tamburrini, G., Veredice, C., Maggio, L., et al. (2025) · Pediatric Infectious Disease Journal

Infectious Encephalopathies and EncephalitisBacterial Infections and Vaccines

Cited by 11