Condition: Noonan Syndrome


rs121913348 in BRAF gene and Noonan Syndrome PMID 18060073 2007 Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.

PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

PMID 12692057 2003 Mutations of the BRAF gene in cholangiocarcinoma but not in hepatocellular carcinoma.

PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

PMID 19206169 2009 Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.

PMID 16953233 2007 KRAS and BRAF oncogenic mutations in MSS colorectal carcinoma progression.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 23026937 2013 Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma.

PMID 23093928 2012 A structural systems biology approach for quantifying the systemic consequences of missense mutations in proteins.

PMID 22892241 2012 The intermediate-activity (L597V)BRAF mutant acts as an epistatic modifier of oncogenic RAS by enhancing signaling through the RAF/MEK/ERK pathway.

PMID 15035987 2004 Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF.

PMID 20523244 2011 Non-hodgkin lymphoma in a patient with cardiofaciocutaneous syndrome.

PMID 18042262 2008 Mutation and phenotypic spectrum in patients with cardio-facio-cutaneous and Costello syndrome.

PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

PMID 18456719 2008 Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

PMID 18953432 2008 p16INK4a expression and absence of activated B-RAF are independent predictors of chemosensitivity in melanoma tumors.

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

PMID 18039235 2007 Neurological complications of cardio-facio-cutaneous syndrome.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

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

PMID 17366577 2007 Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome.

PMID 19376813 2009 Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors.

PMID 22495831 2012 Prevalence and clinical features of Costello syndrome and cardio-facio-cutaneous syndrome in Japan: findings from a nationwide epidemiological survey.

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

rs397517076 in CBL gene and Noonan Syndrome PMID 19571318 2009 Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.

PMID 25358541 2015 Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations.

PMID 20595524 2010 Long-term survival after nonintensive chemotherapy in some juvenile myelomonocytic leukemia patients with CBL mutations, and the possible presence of healthy persons with the mutations.

PMID 25952305 2015 Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations.

PMID 20694012 2010 Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.

PMID 23823657 2013 In hematopoietic cells with a germline mutation of CBL, loss of heterozygosity is not a signature of juvenile myelo-monocytic leukemia.

PMID 21901340 2012 Gene mutations in the Ras pathway and the prognostic implication in Korean patients with juvenile myelomonocytic leukemia.

PMID 20955399 2010 Genetic typing of CBL, ASXL1, RUNX1, TET2 and JAK2 in juvenile myelomonocytic leukaemia reveals a genetic profile distinct from chronic myelomonocytic leukaemia.

PMID 20619386 2010 Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype.

PMID 19620960 2009 Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms.

PMID 20644105 2010 Next-generation sequencing technology reveals a characteristic pattern of molecular mutations in 72.8% of chronic myelomonocytic leukemia by detecting frequent alterations in TET2, CBL, RAS, and RUNX1.

rs104894359 in KRAS gene and Noonan Syndrome PMID 17056636 2007 Expansion of the genotypic and phenotypic spectrum in patients with KRAS germline mutations.

PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

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

PMID 18456719 2008 Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disorders.

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

PMID 16474405 2006 We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome.

PMID 17875937 2007 We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome.

PMID 17551339 2007 Congenital ulcerating hemangioma in a baby with KRAS mutation and cardio-facio-cutaneous syndrome.

PMID 16921267 2006 Germline mutations in components of the Ras signaling pathway in Noonan syndrome and related disorders.

PMID 18509354 2008 An activating KRAS mutation in imatinib-resistant chronic myeloid leukemia.

PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

PMID 19396835 2009 Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

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

PMID 16474405 2006 We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome.

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

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

PMID 18958496 2009 Noonan syndrome caused by germline KRAS mutation in Taiwan: report of two patients and a review of the literature.

PMID 29493581 2018 ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

PMID 16474405 2006 We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome.

PMID 17875937 2007 We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome.

PMID 8246952 1993 Effector domain mutations dissociate p21ras effector function and GTPase-activating protein interaction.

PMID 16474405 2006 We discovered de novo germline KRAS mutations that introduce V14I, T58I or D153V amino acid substitutions in five individuals with Noonan syndrome and a P34R alteration in a individual with cardio-facio-cutaneous syndrome (MIM 115150), which has overlapping features with Noonan syndrome.

PMID 20526288 2010 Molecular genotyping of papillary thyroid carcinoma follicular variant according to its histological subtypes (encapsulated vs infiltrative) reveals distinct BRAF and RAS mutation patterns.

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

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

PMID 24037001 2013 Tegumentary manifestations of Noonan and Noonan-related syndromes.

PMID 22211815 2012 Multiple, diffuse schwannomas in a RASopathy phenotype patient with germline KRAS mutation: a causal relationship?

PMID 21909114 2011 Frequent pathway mutations of splicing machinery in myelodysplasia.

PMID 17601930 2007 De novo HRAS and KRAS mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features.

PMID 23548132 2013 High resolution melting analysis of KRAS, BRAF and PIK3CA in KRAS exon 2 wild-type metastatic colorectal cancer.

PMID 20926413 2011 The importance of evaluation of DNA amplificability in KRAS mutation testing with dideoxy sequencing using formalin-fixed and paraffin-embedded colorectal cancer tissues.

PMID 8234268 1993 Probing the role of loop 2 in Ras function with unnatural amino acids.

PMID 18628094 2008 High-resolution melting analysis for rapid detection of KRAS, BRAF, and PIK3CA gene mutations in colorectal cancer.

PMID 14982869 2004 Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.

PMID 12110640 2002 Concurrent mutations of K-ras oncogene at codons 12 and 22 in colon cancer.

PMID 22488932 2012 KRAS gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G-domain: report of another family with metopic craniosynostosis.

rs104894228 in LRRC56;HRAS gene and Noonan Syndrome PMID 21438134 2011 Phenotypic analysis of individuals with Costello syndrome due to HRAS p.G13C.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 29493581 2018 ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

rs727504317 in MAP2K1 gene and Noonan Syndrome PMID 22327936 2012 Oncogenic MAP2K1 mutations in human epithelial tumors.

PMID 17704260 2007 Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.

PMID 18060073 2007 Mutation analysis of BRAF, MEK1 and MEK2 in 15 ovarian cancer cell lines: implications for therapy.

PMID 19411838 2009 MEK1 mutations, but not ERK2 mutations, occur in melanomas and colon carcinomas, but none in thyroid carcinomas.

rs727504370 in MAP2K2 gene and Noonan Syndrome PMID 18413255 2008 Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome.

PMID 17981815 2008 Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options.

PMID 18039235 2007 Neurological complications of cardio-facio-cutaneous syndrome.

rs121913237 in NRAS gene and Noonan Syndrome PMID 14982869 2004 Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.

PMID 15831708 2005 Repressible transgenic model of NRAS oncogene-driven mast cell disease in the mouse.

PMID 15046639 2004 Constitutive activation of the Ras-Raf signaling pathway in metastatic melanoma is associated with poor prognosis.

PMID 18952898 2009 RAS oncogene suppression induces apoptosis followed by more differentiated and less myelosuppressive disease upon relapse of acute myeloid leukemia.

PMID 19966803 2010 A restricted spectrum of NRAS mutations causes Noonan syndrome.

PMID 16518851 2006 Mutations of the PTPN11 and RAS genes in rhabdomyosarcoma and pediatric hematological malignancies.

PMID 17384584 2007 Hyperactive Ras in developmental disorders and cancer.

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

PMID 10598665 2000 Juvenile myelomonocytic leukemia and Noonan syndrome.

PMID 21263000 2011 Recently, two mutations in NRAS were reported to be associated with Noonan syndrome, T50I and G60E.

rs121918453 in PTPN11 gene and Noonan Syndrome PMID 12161469 2002 PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome.

PMID 16399795 2006 Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.

PMID 17177198 2007 Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.

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

PMID 14974085 2004 Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.

PMID 18759865 2009 PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.

PMID 15001945 2004 Genotype-phenotype correlations in Noonan syndrome.

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

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

PMID 16263833 2006 Noonan syndrome: relationships between genotype, growth, and growth factors.

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

PMID 18562489 2008 Long-term GH treatment improves adult height in children with Noonan syndrome with and without mutations in protein tyrosine phosphatase, non-receptor-type 11.

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

PMID 14961557 2003 A novel PTPN11 mutation in LEOPARD syndrome.

PMID 16631468 2006 Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.

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

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

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

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

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

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

PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

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

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

PMID 20718194 2010 A mother and son with Noonan syndrome resulting from a PTPN11 mutation: first report of molecularly proven cases from Turkey.

PMID 16124853 2005 Noonan syndrome and related disorders: genetics and pathogenesis.

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

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

PMID 12058348 2002 Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

PMID 21339643 2011 Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome-associated PTPN11 mutation.

PMID 18372317 2008 Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.

PMID 15121796 2004 Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

PMID 19768645 2010 LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.

PMID 14634749 2003 [Molecular genetic mutation analysis of the PTPN11 gene in the multiple lentigines (LEOPARD) syndrome].

PMID 19725129 2009 Phenotype-genotype correlation in a patient with co-occurrence of Marfan and LEOPARD syndromes.

PMID 12161596 2002 We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype and that other mutations, such as the Y279C mutation reported here, are associated with both the Noonan syndrome phenotype and with skin pigmentation anomalies, such as multiple lentigines or café au lait spots.

PMID 18849586 2009 Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.

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 21747628 2011 LEOPARD Syndrome with PTPN11 Gene Mutation Showing Six Cardinal Symptoms of LEOPARD.

PMID 16679933 2006 Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).

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

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

PMID 15240615 2004 Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.

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

PMID 12739139 2003 Noonan syndrome with leukaemoid reaction and overproduction of catecholamines: a case report.

PMID 16115145 2005 Differences in the prevalence of PTPN11 mutations in FAB M5 paediatric acute myeloid leukaemia.

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

PMID 17910045 2008 Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia.

PMID 23832011 2013 Exome sequencing identifies secondary mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia.

PMID 22711529 2012 Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome.

PMID 16498234 2006 We herein report a large family demonstrating NS caused by one of the common PTPN11 mutations, c.188 A > G (Y63C).

PMID 17497712 2007 Early fetal death associated with compound heterozygosity for Noonan syndrome-causative PTPN11 mutations.

PMID 22420426 2013 Clinical and molecular analysis of RASopathies in a group of Turkish patients.

PMID 24219368 2013 MAPK activation in mature cataract associated with Noonan syndrome.

PMID 21407260 2011 Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation.

PMID 19352411 2009 SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

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

PMID 22711529 2012 Here, we characterized functionally all possible amino acid substitutions arising from single-base changes affecting codons 62 and 63 to explore the molecular mechanisms lying behind the largely invariant occurrence of the Y62D and Y63C substitutions recurring in Noonan syndrome.

PMID 24718990 2014 Noonan and LEOPARD syndrome Shp2 variants induce heart displacement defects in zebrafish.

PMID 19835954 2010 A suggested role for mitochondria in Noonan syndrome.

PMID 20651068 2010 A germline gain-of-function mutation in Ptpn11 (Shp-2) phosphatase induces myeloproliferative disease by aberrant activation of hematopoietic stem cells.

PMID 25383899 2014 In addition, viral overexpression of an NS-associated allele PTPN11(D61G) in adult mouse hippocampus results in increased baseline excitatory synaptic function and deficits in LTP and spatial learning, which can be reversed by a mitogen-activated protein kinase kinase (MEK) inhibitor.

PMID 21365683 2011 Structural mechanism associated with domain opening in gain-of-function mutations in SHP2 phosphatase.

PMID 24628801 2014 Structural insights into Noonan/LEOPARD syndrome-related mutants of protein-tyrosine phosphatase SHP2 (PTPN11).

PMID 19927903 2009 We report on a fetus with Noonan syndrome and a missense mutation c.182A > C (p.Asp61Ala) of PTPN11 who responded poorly to antenatal pleurodesis by OK-432.

PMID 25097206 2014 Juvenile myelomonocytic leukaemia and Noonan syndrome.

PMID 19251646 2009 We showed previously that knock-in mice bearing the NS mutant Ptpn11(D61G) on a mixed 129S4/SvJae X C57BL6/J background exhibit all major NS features, including a variety of cardiac defects, with variable penetrance.

PMID 16533526 2006 PTPN11, RAS and FLT3 mutations in childhood acute lymphoblastic leukemia.

PMID 22371576 2012 We report here that early postnatal growth delay is associated with low levels of insulin-like growth factor 1 (IGF-1) in a mouse model of NS expressing the D61G mutant of SHP2.

PMID 16461457 2006 Gain-of-function/Noonan syndrome SHP-2/Ptpn11 mutants enhance calcium oscillations and impair NFAT signaling.

PMID 15273746 2004 Surviving Ptpn11(D61G/+) embryos ( approximately 50%) have short stature, craniofacial abnormalities similar to those in Noonan syndrome, and myeloproliferative disease.

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

PMID 19008228 2009 Noonan syndrome/leukemia-associated gain-of-function mutations in SHP-2 phosphatase (PTPN11) enhance cell migration and angiogenesis.

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

PMID 18378677 2008 Noonan syndrome-associated SHP-2/Ptpn11 mutants enhance SIRPalpha and PZR tyrosyl phosphorylation and promote adhesion-mediated ERK activation.

PMID 15009076 2004 Mutations in PTPN11 are uncommon in adult myelodysplastic syndromes and acute myeloid leukaemia.

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 18331608 2008 Analysis of the PTPN11 gene in idiopathic short stature children and Noonan syndrome patients.

PMID 15928039 2005 Eight of 19 patients with NS/MPD carried the Thr73Ile substitution.

PMID 20237506 2010 Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations.

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

PMID 15723289 2005 In one patient with NS and mild juvenile myelomonocytic leukemia (JMML) the mutation 218C --> T (Thr73Ile) was found.

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

PMID 20383758 2010 We report a patient with classical cardinal features of NS, including short stature, mild ptosis, hypertelorism, down-slating palpebral fissures, low-set and posteriorly angulated ears, short neck, pectus excavatum, widely spaced nipples and cryptochidism, which were associated with bilateral central giant cell lesions in the mandible and germ-line mutation (C218T, Thr73Ile) in the exon 3 of the PTPN11 gene.

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

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

PMID 17641779 2007 Our data establish the developmental stage-specific effects of Q79R cardiac expression in NS; show that ablation of subsequent ERK1/2 activation prevents the development of cardiac abnormalities; and suggest that ERK1/2 modulation could have important implications for developing therapeutic strategies in CHD.

PMID 16166557 2005 The Q79R mutation of PTPN11 previously identified in Noonan syndrome families results in a gain-of-function of the encoded protein tyrosine phosphatase Shp2.

PMID 19017799 2008 We created a NS mouse model with selective overexpression of mutant Shp2 (Q79R-Shp2) in the developing endocardial cushions.

PMID 19706403 2009 Previously, we found that expression of the mutated protein SHP2 Q79R in the heart led to a phenotypic presentation that mimicked some aspects of NS and that this was dependent upon activation of the ERK1/2 pathway.

PMID 12529711 2003 PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning.

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

PMID 17453145 2007 How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms?

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

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

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

PMID 21590266 2012 Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.

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

PMID 21567923 2011 Lethal presentation of neurofibromatosis and Noonan syndrome.

PMID 21340158 2010 Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

PMID 20979190 2010 Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.

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 28074573 2017 Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.

PMID 29493581 2018 ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

PMID 22781091 2013 Atrioventricular canal defect in patients with RASopathies.

PMID 16892325 2006 Additional evidence that PTPN11 mutations play only a minor role in the pathogenesis of non-syndromic atrioventricular canal defect.

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 26817465 2016 Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.

PMID 21248739 2011 ALK2 mutation in a patient with Down's syndrome and a congenital heart defect.

PMID 23624134 2013 IGF-I generation test in prepubertal children with Noonan syndrome due to mutations in the PTPN11 gene.

PMID 19125092 2009 Primary mixed glioneuronal tumor of the central nervous system in a patient with noonan syndrome: a case report and review of the literature.

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

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

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

PMID 20030748 2010 Comprehensive genetic analysis of overlapping syndromes of RAS/RAF/MEK/ERK pathway.

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

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

PMID 18328949 2008 The association of this p.G60A PTPN11 mutation with neuroblastoma provides new evidence that gain of function PTPN11 mutations may play an important role in the pathogenesis of solid tumors associated with Noonan syndrome.

PMID 17053061 2007 PTPN11 is the first identified proto-oncogene that encodes a tyrosine phosphatase.

PMID 24039098 2014 Pulmonary interstitial glycogenosis in a patient ultimately diagnosed with Noonan syndrome.

PMID 16643459 2006 Acute lymphoblastic leukaemia in Noonan syndrome.

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

PMID 18286234 2008 The tyrosine phosphatase Shp2 (PTPN11) in cancer.

PMID 17177198 2007 Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys and Ala72Val) or causing NS (Glu76Asp and Ala72Ser), with affected residues located in the PTP-interacting region of the N-SH2 domain, were analyzed by molecular dynamics simulations and in vitro biochemical assays.

PMID 16830086 2007 Aortic root dilatation is a rare complication of Noonan syndrome.

PMID 21204800 2011 Bone resorption in syndromes of the Ras/MAPK pathway.

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

PMID 17361219 2007 Clonal duplication of a germline PTPN11 mutation due to acquired uniparental disomy in acute lymphoblastic leukemia blasts from a patient with Noonan syndrome.

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

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

PMID 22315187 2012 Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with Noonan syndrome carrying the germline PTPN11 mutation p.E139D.

PMID 23584145 2013 Protein tyrosine phosphatase SHP2/PTPN11 mistargeting as a consequence of SH2-domain point mutations associated with Noonan Syndrome and leukemia.

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

PMID 22494877 2012 Health and quality of life in adults with Noonan syndrome.

PMID 23917401 2013 The integrated landscape of driver genomic alterations in glioblastoma.

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

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

PMID 14982869 2004 Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.

PMID 15712196 2005 High incidence of malformation syndromes in a series of 1,073 children with cancer.

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

PMID 16369799 2006 Lethal proliferation of erythroid precursors in a neonate with a germline PTPN11 mutation.

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

PMID 17875892 2007 A novel PTPN11 gene mutation in a patient with LEOPARD Syndrome.

PMID 19795160 2010 PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome.

PMID 28628100 2017 Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains.

PMID 23513489 2012 We report the case of a 18 month-old boy, evaluated in a multidisciplinary way, with clinic and molecular diagnosis of Noonan syndrome, with the missense mutation in PTPN11 gene, G503R (c.1507 G>A).

PMID 18758896 2008 We describe the previously unreported condition of Hodgkin's lymphoma in a patient with Noonan syndrome caused by germ-line mutations (1507G > C, Gly503Arg) in exon 13 of the PTPN11 gene.

PMID 21910226 2011 Implantable cardioverter defibrillator for progressive hypertrophic cardiomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His.

PMID 21803945 2011 LEOPARD-type SHP2 mutant Gln510Glu attenuates cardiomyocyte differentiation and promotes cardiac hypertrophy via dysregulation of Akt/GSK-3β/β-catenin signaling.

PMID 15889278 2005 A novel mutation in the PTPN11 gene in a patient with Noonan syndrome and rapidly progressive hypertrophic cardiomyopathy.

PMID 19273734 2009 IMAGE CARDIO MED. A patient with LEOPARD syndrome and PTPN11 mutation.

PMID 16733669 2006 "PTPN11 gene mutations: linking the Gln510Glu mutation to the ""LEOPARD syndrome phenotype""."

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

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

PMID 19582499 2009 PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?

PMID 29084544 2017 Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

PMID 22848035 2012 Case report: Noonan syndrome with multiple giant cell lesions and review of the literature.

PMID 27460089 2016 Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease.

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

PMID 27884971 2017 Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations.

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

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

PMID 24225993 2014 A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions.

rs121434594 in RAF1 gene and Noonan Syndrome PMID 17603487 2007 Selective loading of high-affinity peptides onto major histocompatibility complex class I molecules by the tapasin-ERp57 heterodimer.

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

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

PMID 17603486 2007 Mast cell lineage diversion of T lineage precursors by the essential T cell transcription factor GATA-3.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

PMID 20683980 2010 Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

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

PMID 24732797 2014 RASSF1A inactivation unleashes a tumor suppressor/oncogene cascade with context-dependent consequences on cell cycle progression.

PMID 20052757 2010 Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.

PMID 12675918 2003 Protein kinase and protein phosphatase expression in the central nervous system of G93A mSOD over-expressing mice.

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

PMID 17603484 2007 Common variants in WFS1 confer risk of type 2 diabetes.

PMID 17603485 2007 Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes.

PMID 25862627 2015 External ear anomalies and hearing impairment in Noonan Syndrome.

PMID 26266034 2015 A Novel Noonan Syndrome RAF1 Mutation: Lethal Course in a Preterm Infant.

PMID 11933072 2002 Mutations in conserved regions 1, 2, and 3 of Raf-1 that activate transforming activity.

PMID 17603488 2007 Redox regulation of peptide receptivity of major histocompatibility complex class I molecules by ERp57 and tapasin.

PMID 12077328 2002 14-3-3 antagonizes Ras-mediated Raf-1 recruitment to the plasma membrane to maintain signaling fidelity.

PMID 1760348 1992 Downgrading of arts-centered education in state schools.

PMID 29084544 2017 Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

PMID 23877478 2014 Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.

PMID 29493581 2018 ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

PMID 25706034 2015 We present two infants with Noonan syndrome and an identical RAF1 mutation, p.Ser257Leu (c.770C>T), who developed severe pulmonary arterial hypertension (PAH) that proved to be fatal.

PMID 22389993 2012 Two cases of LEOPARD syndrome--RAF1 mutations firstly described in children.

PMID 24775816 2013 LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.

PMID 17603489 2007 A GaN bulk crystal with improved structural quality grown by the ammonothermal method.

PMID 19933846 2010 Impact of feedback phosphorylation and Raf heterodimerization on normal and mutant B-Raf signaling.

PMID 19953625 2010 Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

PMID 22826437 2012 Increased BRAF heterodimerization is the common pathogenic mechanism for noonan syndrome-associated RAF1 mutants.

rs483352822 in RIT1 gene and Noonan Syndrome PMID 24803665 2014 Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

PMID 23791108 2013 Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.

PMID 26757980 2016 Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia.

PMID 25959749 2016 Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype.

PMID 24469055 2014 Oncogenic RIT1 mutations in lung adenocarcinoma.

PMID 26714497 2016 Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations.

PMID 24939608 2014 Contribution of RIT1 mutations to the pathogenesis of Noonan syndrome: four new cases and further evidence of heterogeneity.

PMID 25124994 2014 Further evidence of the importance of RIT1 in Noonan syndrome.

PMID 25049390 2014 Next-generation sequencing identifies rare variants associated with Noonan syndrome.

PMID 24901346 2014 The usefulness of whole-exome sequencing in routine clinical practice.

rs267606990 in RPL6;PTPN11 gene and Noonan Syndrome PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

PMID 19449407 2009 Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome.

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

PMID 25337068 2014 Clinical and Molecular Findings of Tunisian Patients with RASopathies.

rs267607048 in SHOC2 gene and Noonan Syndrome PMID 22528146 2012 Clinical testing of genes causative of Noonan syndrome and related disorders detected the previously reported, pathogenic, de novo SHOC2 missense mutation predicting p.Ser2Gly.

PMID 24458587 2014 Hydrops fetalis in a preterm newborn heterozygous for the c.4A>G SHOC2 mutation.

PMID 23918763 2013 The recently identified SHOC2 mutation (p.Ser2Gly) causes Noonan syndrome with loose anagen hair.

PMID 24458596 2014 Coarctation of the aorta in Noonan-like syndrome with loose anagen hair.

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

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

rs137852812 in SOS1 gene and Noonan Syndrome PMID 19020799 2008 PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.

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

PMID 19953625 2010 Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

PMID 17143285 2007 Germline gain-of-function mutations in SOS1 cause Noonan syndrome.

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

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

PMID 17143282 2007 Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

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

PMID 20683980 2010 Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.

PMID 21340158 2010 Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?

PMID 24522193 2014 Intriguingly, CIIA failed to inhibit the Ras-specific GEF activity of Noonan-syndrome-associated SOS1 mutants (M269R, R552G, W729L and E846K).

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

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

PMID 19352411 2009 SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

PMID 20305546 2010 Noonan-like/multiple giant cell lesion syndrome in two adult patients with SOS1 gene mutations.

PMID 19438935 2009 SOS1: a new player in the Noonan-like/multiple giant cell lesion syndrome.

PMID 20133692 2010 Role of the histone domain in the autoinhibition and activation of the Ras activator Son of Sevenless.

PMID 18772396 2008 An integrated genomic analysis of human glioblastoma multiforme.

PMID 18456719 2008 The SOS1 E433K mutation, identified in a patient diagnosed with CFC, has previously been reported in patients with NS.

PMID 29493581 2018 ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.

PMID 29037749 2018 Psychopathological features in Noonan syndrome.

PMID 26214590 2015 Exome sequencing identifies recurrent mutations in NF1 and RASopathy genes in sun-exposed melanomas.

PMID 30266093 2018 Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.

PMID 28378436 2017 Visual perception skills: a comparison between patients with Noonan syndrome and 22q11.2 deletion syndrome.

PMID 27236105 2016 RASopathy Gene Mutations in Melanoma.

PMID 26918529 2016 Retrospective study of prenatal ultrasound findings in newborns with a Noonan spectrum disorder.

PMID 25337068 2014 Clinical and Molecular Findings of Tunisian Patients with RASopathies.

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

PMID 26686981 2016 Coronary artery ectasia in Noonan syndrome: Report of an individual with SOS1 mutation and literature review.

PMID 21274610 2011 Long term memory profile of disorders associated with dysregulation of the RAS-MAPK signaling cascade.

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

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 20461756 2010 Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma.

PMID 21041952 2010 Activation of multiple signaling pathways causes developmental defects in mice with a Noonan syndrome–associated Sos1 mutation.

PMID 23673306 2013 Ulerythema ophryogenes, a rarely reported cutaneous manifestation of noonan syndrome: case report and review of the literature.

PMID 24270602 2014 A quantitative liposome microarray to systematically characterize protein-lipid interactions.

PMID 23452850 2013 Interaction domains of Sos1/Grb2 are finely tuned for cooperative control of embryonic stem cell fate.

PMID 20133694 2010 Allosteric gating of Son of sevenless activity by the histone domain.

PMID 1758637 1991 [Observations on cancer metastasis from an unknown primary location].

PMID 18651097 2008 Clinical manifestations in patients with SOS1 mutations range from Noonan syndrome to CFC syndrome.

PMID 20673819 2011 Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.

PMID 11333268 2001 Structure-based mutagenesis reveals distinct functions for Ras switch 1 and switch 2 in Sos-catalyzed guanine nucleotide exchange.

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