Gain-of-function SOS1 mutations cause a distinctive form of noonan syndrome (2006)
Tartaglia, Marco, Pennacchio, Len A., Zhao, Chen, Yadav, Kamlesh K., Fodale, Valentina, Sarkozy, Anna, ...
Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart defects and skeletal anomalies1. Increased RAS-mitogenactivated protein kinase...
NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome
De Luca, Alessandro, Bottillo, Irene, Sarkozy, Anna, Carta, Claudio, Neri, Cinzia, Bellacchio, Emanuele, ...
Neurofibromatosis type 1 (NF1) demonstrates phenotypic overlap with Noonan syndrome (NS) in some patients, which results in the so-called neurofibromatosis-Noonan syndrome (NFNS). From a genetic...
Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease
Tartaglia, Marco, Martinelli, Simone, Stella, Lorenzo, Bocchinfuso, Gianfranco, Flex, Elisabetta, Cordeddu, Viviana, ...
Germline mutations in PTPN11, the gene encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome (NS) and the clinically related LEOPARD syndrome (LS), whereas somatic mutations in the...
Tartaglia, Marco, Kalidas, Kamini, Shaw, Adam, Song, Xiaoling, Musat, Dan L., Van der Burgt, Ineke, ...
Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia, short stature, cardiac defects, and skeletal malformations. We recently demonstrated that mutations in PTPN11, the...
Tartaglia, Marco, Cordeddu, Viviana, Chang, Hong, Shaw, Adam, Kalidas, Kamini, Crosby, Andrew, ...
Germline mutations in PTPN11—the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2—represent a major cause of Noonan syndrome (NS), a developmental disorder characterized by short...
NF1 Gene Mutations Represent the Major Molecular Event Underlying Neurofibromatosis-Noonan Syndrome
De Luca, Alessandro, Bottillo, Irene, Sarkozy, Anna, Carta, Claudio, Neri, Cinzia, Bellacchio, Emanuele, ...
Neurofibromatosis type 1 (NF1) demonstrates phenotypic overlap with Noonan syndrome (NS) in some patients, which results in the so-called neurofibromatosis-Noonan syndrome (NFNS). From a genetic...
Diversity and Functional Consequences of Germline and Somatic PTPN11 Mutations in Human Disease
Tartaglia, Marco, Martinelli, Simone, Stella, Lorenzo, Bocchinfuso, Gianfranco, Flex, Elisabetta, Cordeddu, Viviana, ...
Germline mutations in PTPN11, the gene encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome (NS) and the clinically related LEOPARD syndrome (LS), whereas somatic mutations in the...
Carta, Claudio, Pantaleoni, Francesca, Bocchinfuso, Gianfranco, Stella, Lorenzo, Vasta, Isabella, Sarkozy, Anna, ...
Noonan syndrome (NS) is a developmental disorder characterized by short stature, facial dysmorphia, congenital heart disease, and multiple skeletal and hematologic defects. NS is an autosomal...
Fragale, Alessandra, Tartaglia, Marco, Bernardini, Silvia, Di Rocco, Concezio, Velardi, Francesco, ...
Craniosynostoses are a heterogeneous group of disorders characterized by premature fusion of cranial sutures. Mutations in fibroblast growth factor receptors (FGFRs) have been associated with a...
Kratz, Christian P., Niemeyer, Charlotte M., Castleberry, Robert P., Cetin, Mualla, Bergsträsser, Eva, Emanuel, Peter D., ...
Germ line PTPN11 mutations cause 50% of cases of Noonan syndrome (NS). Somatic mutations in PTPN11 occur in 35% of patients with de novo, nonsyndromic juvenile myelomonocytic leukemia (JMML)....
Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia
Flex, Elisabetta, Petrangeli, Valentina, Stella, Lorenzo, Chiaretti, Sabina, Hornakova, Tekla, Knoops, Laurent, ...
Aberrant signal transduction contributes substantially to leukemogenesis. The Janus kinase 1 (JAK1) gene encodes a cytoplasmic tyrosine kinase that noncovalently associates with a variety of cytokine...