Condition: NOONAN SYNDROME 3


rs104894359 in KRAS gene and NOONAN SYNDROME 3 PMID 19396835 2009 Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

PMID 16773572 2006 Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

PMID 20876176 2010 Noonan syndrome: clinical features, diagnosis, and management guidelines.

PMID 17056636 2007 Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

PMID 20949621 2011 Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

PMID 16474405 2006 Germline KRAS mutations cause Noonan syndrome.

PMID 17468812 2007 Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene.

PMID 21686179 2011 KRAS mutation detection in paired frozen and Formalin-Fixed Paraffin-Embedded (FFPE) colorectal cancer tissues.

PMID 23885229 2013 Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.

PMID 16987887 2006 Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.

PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 25359213 2014 K-RasV14I recapitulates Noonan syndrome in mice.

PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

rs121913496 in LRRC56;HRAS gene and NOONAN SYNDROME 3 PMID 3510078 1986 Biological and biochemical properties of human rasH genes mutated at codon 61.

PMID 1904555 1991 Differential regulation of rasGAP and neurofibromatosis gene product activities.

rs121918453 in PTPN11 gene and NOONAN SYNDROME 3 PMID 18759865 2009 PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.

PMID 24458522 2014 Behavioral profile in RASopathies.

PMID 15723289 2005 Genotypic and phenotypic characterization of Noonan syndrome: new data and review of the literature.

PMID 16377799 2006 PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.

PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 12717436 2003 Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

PMID 26607044 2016 New Mutations Associated with Rasopathies in a Central European Population and Genotype-Phenotype Correlations.

PMID 25097206 2014 Juvenile myelomonocytic leukaemia and Noonan syndrome.

PMID 17546245 2007 [Phenotype variability in Noonan syndrome patients with and without PTPN11 mutation].

PMID 15956085 2005 PTPN11 (protein tyrosine phosphatase, nonreceptor type 11) mutations and response to growth hormone therapy in children with Noonan syndrome.

PMID 15248152 2004 Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.

PMID 19020799 2008 PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

PMID 17020470 2006 PTPN11 gene analysis in 74 Brazilian patients with Noonan syndrome or Noonan-like phenotype.

PMID 17661820 2007 Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.

PMID 18678287 2009 Clinical and molecular characterization of 40 patients with Noonan syndrome.

PMID 18854871 2009 Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome.

PMID 19077116 2009 Genotype differences in cognitive functioning in Noonan syndrome.

PMID 15985475 2005 PTPN11 mutations are associated with mild growth hormone resistance in individuals with Noonan syndrome.

PMID 15761018 2005 Functional analysis of leukemia-associated PTPN11 mutations in primary hematopoietic cells.

PMID 15996221 2005 Noonan-like syndrome mutations in PTPN11 in patients diagnosed with cherubism.

PMID 15987685 2005 Diverse biochemical properties of Shp2 mutants. Implications for disease phenotypes.

PMID 16498234 2006 A PTPN11 gene mutation (Y63C) causing Noonan syndrome is not associated with short stature in general population.

PMID 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

PMID 12325025 2002 PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13.

PMID 23321623 2013 Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings.

PMID 15389709 2004 Two novel and one recurrent PTPN11 mutations in LEOPARD syndrome.

PMID 22781091 2013 Atrioventricular canal defect in patients with RASopathies.

PMID 16638574 2006 Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

PMID 15690106 2005 Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.

PMID 20308328 2010 Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.

PMID 20578946 2010 PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.

PMID 15520399 2004 PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

PMID 22488759 2012 Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.

PMID 22465605 2012 Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

PMID 12634870 2003 Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome.

PMID 22190897 2011 RASopathies: Clinical Diagnosis in the First Year of Life.

PMID 20954246 2010 Clinical and hematologic findings in Noonan syndrome patients with PTPN11 gene mutations.

PMID 25914815 2015 Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing.

PMID 16990350 2007 The natural history of Noonan syndrome: a long-term follow-up study.

PMID 20186801 2010 Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.

PMID 17972951 2008 Characterization of acute myeloid leukemia with PTPN11 mutation: the mutation is closely associated with NPM1 mutation but inversely related to FLT3/ITD.

PMID 15928039 2005 The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.

PMID 14644997 2004 Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis.

PMID 20931536 2010 [Mutation analysis of PTPN11 gene in Noonan syndrome].

PMID 15842656 2005 Somatic PTPN11 mutations in childhood acute myeloid leukaemia.

PMID 15001945 2004 Genotype-phenotype correlations in Noonan syndrome.

PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

PMID 15385933 2004 PTPN11 mutations in pediatric patients with acute myeloid leukemia: results from the Children's Cancer Group.

PMID 20112233 2010 Prenatal detection of Noonan syndrome by mutation analysis of the PTPN11 and the KRAS genes.

PMID 19047918 2009 Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.

PMID 15710330 2005 Prognostic, therapeutic, and mechanistic implications of a mouse model of leukemia evoked by Shp2 (PTPN11) mutations.

PMID 16804314 2006 Does the rare A172G mutation of PTPN11 gene convey a mild Noonan syndrome phenotype?

PMID 15834506 2005 Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

PMID 19179468 2009 Leukemogenic Ptpn11 causes fatal myeloproliferative disorder via cell-autonomous effects on multiple stages of hematopoiesis.

PMID 27276561 2016 Genomic Classification and Prognosis in Acute Myeloid Leukemia.

PMID 21744363 2011 Prenatal features of Noonan syndrome: prevalence and prognostic value.

PMID 25395418 2015 Subclonal mutations in SETBP1 confer a poor prognosis in juvenile myelomonocytic leukemia.

PMID 23756559 2013 Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.

PMID 25253770 2014 Ras pathway mutations are prevalent in relapsed childhood acute lymphoblastic leukemia and confer sensitivity to MEK inhibition.

PMID 27069254 2016 The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia.

PMID 19737548 2009 High resolution melting analysis for mutation detection for PTPN11 gene: applications of this method for diagnosis of Noonan syndrome.

PMID 16467864 2006 Hyperactivation of the RAS signaling pathway in myelodysplastic syndrome with AML1/RUNX1 point mutations.

PMID 22681964 2011 PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?

PMID 24931631 2014 The spectrum of somatic mutations in high-risk acute myeloid leukaemia with -7/del(7q).

PMID 27683039 2016 Clonal and microclonal mutational heterogeneity in high hyperdiploid acute lymphoblastic leukemia.

PMID 21680795 2011 Key pathways are frequently mutated in high-risk childhood acute lymphoblastic leukemia: a report from the Children's Oncology Group.

PMID 24150203 2014 Molecular characterization of Chilean patients with a clinical diagnosis of Noonan syndrome.

PMID 24451042 2014 Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

PMID 15689434 2005 Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome.

PMID 19120036 2009 A severe form of Noonan syndrome and autosomal dominant café-au-lait spots - evidence for different genetic origins.

PMID 17339163 2007 Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.

PMID 25708222 2015 Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.

PMID 21677813 2011 LEOPARD syndrome in an infant with severe hypertrophic cardiomyopathy and PTPN11 mutation.

PMID 22058153 2012 The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling.

PMID 18505544 2008 Leopard syndrome.

PMID 18241070 2008 Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome.

PMID 24821303 2014 Pectus excavatum and carinatum.

PMID 15604238 2004 Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia.

PMID 24030381 2013 Clinical and biological implications of driver mutations in myelodysplastic syndromes.

PMID 18470943 2008 The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders.

rs397516830 in RAF1 gene and NOONAN SYNDROME 3 PMID 22821648 2012 Prenatal diagnosis of hypoplastic left heart syndrome associated with Noonan Syndrome and de novo RAF1 mutation.

rs267607048 in SHOC2 gene and NOONAN SYNDROME 3 PMID 23786871 2013 Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.

PMID 22528146 2012 Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.

PMID 20882035 2010 Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies.

PMID 21548061 2011 Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.

PMID 23885229 2013 Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients.

PMID 22253195 2012 Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.

PMID 22995099 2012 Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 19684605 2009 Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

PMID 22419608 2012 Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations.

PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 23756559 2013 Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome.

rs397517154 in SOS1 gene and NOONAN SYNDROME 3 PMID 17143282 2007 Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

PMID 21784453 2011 Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

PMID 17586837 2007 SOS1 is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndrome.

PMID 21387466 2011 SOS1 mutations in Noonan syndrome: molecular spectrum, structural insights on pathogenic effects, and genotype-phenotype correlations.

PMID 20186801 2010 Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome.

PMID 23487764 2013 NMR-based functional profiling of RASopathies and oncogenic RAS mutations.