Results 91 to 100 of about 264 (130)

COMPREHENSIVE CHARACTERIZATION OF SOMATIC PTPN11-MUTATED JMML

EJC Paediatric Oncology
Edoardo Muratore, Valérie de Haas, Dorine Bresters, Christian Flotho, Pierre Goncalves, Mattias Hofmans, Marko Kavcic, Tim Lammens, Daniel B. Lipka, Loizos Petrikkos, Charlotte M. Niemeyer, Peter Nöllke for the EWOG-MDS JMML Working Group, Senthilkumar Ramamoorthy, Dirk Lebrecht, Riccardo Masetti, Maximilian Schönung   +15 more
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SETBP-1 mutations favor transformation to AML in PTPN-11 positive JMML

Pediatric Hematology Oncology Journal
Ravi Kumar Majhi, Aditya Kumar Gupta, Jagdish Prasad Meena, Harshita Makkar, Lata Singh, Pranay Tanwar, Anita Chopra, Sameer Bakhshi, Rachna Seth   +8 more
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Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations

Indian Journal of Pediatrics, 2016
To evaluate the spectrum of PTPN11 gene mutations in Noonan syndrome patients and to study the genotype-phenotype associations.In this study, twenty Noonan syndrome patients with PTPN11 mutations were included. The patients underwent a detailed clinical and physical evaluation. To identify inherited cases, parents of all mutation positive patients were
Damla Goksen, Ajlan Tukun, Ferda Özkınay   +2 more
exaly   +4 more sources

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: A boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations

Birth Defects Research Part A: Clinical and Molecular Teratology, 2004
AbstractBACKGROUNDNonsyndromic hypertrophic cardiomyopathy (HCM) is a primary cardiac disease transmitted as an autosomal dominant trait. Multiple chromosomal loci have been found to be involved in the etiology of this defect. LEOPARD syndrome is a genetic condition characteristically associated with HCM.
Giuseppe Pacileo, , Bruno Dallapiccola
exaly   +4 more sources

Childhood Myeloid Neoplasms With PTPN11 Mutations in Brazil

Clinical Lymphoma Myeloma and Leukemia, 2020
Abstract The diagnostic variables to distinguish myeloproliferative disorders (MPD) and acute myeloid leukemia (AML) is still a challenge in developing countries. We aimed to explore the prevalence of RAS pathways mutations with a focus on PTPN11 mutation in MPD and AML affecting pediatric patients.
Filipe Vicente dos Santos-Bueno, Francianne Gomes Andrade, Ingrid Sardou-Cezar, Daniela Palheiro Mendes-de-Almeida, Alython Araujo Chung-Filho, Gisele Dallapicola Brisson, Eugênia Terra-Granado, Elda Pereira Noronha, Luiz Claudio Santos Thuler, Maria S. Pombo-de-Oliveira, Marcelo dos Santos Souza, Eda Manzo, Carolina Iracema de Oliveira Rego Patricia Carneiro de Brito, Jose Carlos Cordoba, Regiana Quinto de Souza, Juliana Teixeira Costa, Ana Maria Marinho, Eloisa Cartaxo Eloy Fialho, Renato de Paula Guedes Oliveira, Gustavo Ribeiro Neves, Alayde Vieira Wanderley, Everaldo Ruiz Junior, Imaruí Costa   +22 more
openaire   +2 more sources

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy

European Journal of Medical Genetics, 2006
Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disease and a major cause of sudden death. It is an autosomal dominant disorder predominantly caused by mutations in genes encoding for sarcomeric proteins. Only 50-60% of HCM probands have mutations in known genes suggesting the presence of additional disease genes.
LIMONGELLI, Giuseppe, Hawkes L, Calabro’ R, McKenna WJ, Syrris P.   +4 more
openaire   +2 more sources

Noonan syndrome: Severe phenotype and PTPN11 mutations

Medicina Clínica (English Edition), 2019
Noonan syndrome (NS) is a genetic disorder characterized by a wide range of distinctive features and health problems. It caused in 50% of cases by missense mutations in PTPN11 gene. It has been postulated that it is possible to predict the disease course based into the impact of mutations on the protein.We report two cases of severe NS phenotype ...
Pilar, Carrasco Salas, Gertrudis, Gómez-Molina, Páxedes, Carreto-Alba, Reyes, Granell-Escobar, Ignacio, Vázquez-Rico, Antonio, León-Justel   +5 more
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Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation

American Journal of Medical Genetics Part A, 2013
ABSTRACTMedulloblastoma is the commonest brain tumor in childhood and in a minority of patients is associated with an underlying genetic disorder such as Gorlin syndrome or familial adenomatous polyposis. Increased susceptibility to certain tumors, including neuroblastoma and some hematological malignancies, is recognized in disorders caused by ...
Julia, Rankin, John, Short, Peter, Turnpenny, Bruce, Castle, C Oliver, Hanemann   +4 more
openaire   +2 more sources

PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

European Journal of Pediatrics, 2006
We describe the "LEOPARD syndrome (LS) phenotype" associated with the Gln510Glu mutation of the PTPN11 gene in two patients presenting with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy and structural abnormalities of the mitral valve, facial anomalies, café-au-lait spots and multiple lentigines.
Digilio M. C., Sarkozy A., Pacileo G., Limongelli G., Marino B., Dallapiccola B.   +5 more
openaire   +3 more sources

Response to trametinib of histiocytosis with an activating PTPN11 mutation

Leukemia & Lymphoma, 2019
Histiocytoses are disorders characterized by the accumulation of cells with the morphology and phenotype of dendritic cells or macrophages.
Farnault, L, Helias-Rodzewicz, Z., Venton, G, Fanciullino, R., Gabriel, Sophie, Mescam, L., Haroche, J., Donadieu, J, Emile, Jf.   +8 more
openaire   +4 more sources