Gene: PTPN11

Alternate names for this Gene: BPTP3|CFC|JMML|METCDS|NS1|PTP-1D|PTP2C|SH-PTP2|SH-PTP3|SHP2

Gene Summary: The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia.

Gene is located in Chromosome: 12

Location in Chromosome : 12q24.13

Description of this Gene: protein tyrosine phosphatase non-receptor type 11

Type of Gene: protein-coding

rs397507546 in PTPN11 gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs397507520 in PTPN11 gene and Astigmatism PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

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

rs121918464 in PTPN11 gene and Astrocytoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121918455 in PTPN11 gene and Blepharoptosis PMID 19077116 2009 Genotype differences in cognitive functioning in Noonan syndrome.

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

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

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

rs121918453 in PTPN11 gene and Brain Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121918453 in PTPN11 gene and Chronic Lymphocytic Leukemia PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs12229892 in PTPN11 gene and Cleft Palate PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs12229892 in PTPN11 gene and Cleft upper lip PMID 28232668 2017 Genome-wide analyses of non-syndromic cleft lip with palate identify 14 novel loci and genetic heterogeneity.

rs121918464 in PTPN11 gene and Colorectal Neoplasms PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121918459 in PTPN11 gene and Congenital insufficiency of pulmonary valve PMID 22711529 2012 Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.

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

rs397507547 in PTPN11 gene and Congenital ocular coloboma (disorder) PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

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

rs121918459 in PTPN11 gene and Congenital stenosis of pulmonary valve PMID 22711529 2012 Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.

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

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

PMID 17641779 2007 Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome.

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

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 16166557 2005 Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling.

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

rs11066301 in PTPN11 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.

rs121918459 in PTPN11 gene and Cryptorchidism PMID 22711529 2012 Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.

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

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

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

rs397507547 in PTPN11 gene and Curly hair (finding) PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

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

rs28933386 in PTPN11 gene and Developmental delay (disorder) PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

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

rs121918455 in PTPN11 gene and Downward slant of palpebral fissure 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 16124853 2005 Noonan syndrome and related disorders: genetics and pathogenesis.

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

rs28933386 in PTPN11 gene and Dysmorphic features PMID 9222968 1997 Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

PMID 4025385 1985 Noonan syndrome: the changing phenotype.

PMID 19467855 2009 The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

PMID 26297936 2015 Chronic pain in Noonan Syndrome: A previously unreported but common symptom.

PMID 1258892 1976 Multiple lentigines syndrome. Case report and review of the literature.

PMID 21533187 2011 Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

PMID 27619028 2016 Audiological findings in Noonan syndrome.

PMID 8530013 1995 Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3.

PMID 27521173 2016 Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

PMID 4386970 1968 Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.

PMID 26249544 2015 Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

PMID 21500339 2011 Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

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

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

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

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

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

PMID 17222357 2007 Noonan syndrome.

PMID 1543375 1992 A clinical study of Noonan syndrome.

rs121918460 in PTPN11 gene and Dysplastic pulmonary valve PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

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

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

rs117162013 in PTPN11 gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs397507546 in PTPN11 gene and Gastric Adenocarcinoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs397507545 in PTPN11 gene and Gastroesophageal reflux disease PMID 12717436 2003 Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

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

PMID 15001945 2004 Genotype-phenotype correlations in Noonan syndrome.

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

rs121918470 in PTPN11 gene and Global developmental delay PMID 16638574 2006 Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

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

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

PMID 15948193 2005 Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

rs121918460 in PTPN11 gene and Heart Diseases PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

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

PMID 22711529 2012 Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.

rs11066325 in PTPN11 gene and High density lipoprotein measurement PMID 31006500 2020 Protein and fat intake interacts with the haplotype of PTPN11_rs11066325, RPH3A_rs886477, and OAS3_rs2072134 to modulate serum HDL concentrations in middle-aged people.

rs28933386 in PTPN11 gene and Hypertensive disease PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

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

rs121918457 in PTPN11 gene and Hypertrophic Cardiomyopathy PMID 24451042 2014 Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

PMID 22585553 2012 A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

PMID 23317994 2013 Delayed primary diagnosis of LEOPARD syndrome type 1.

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

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

PMID 23457302 2013 Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations.

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

PMID 25884655 2015 PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.

PMID 24767283 2014 LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

PMID 25917897 2015 Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.

PMID 14961557 2003 A novel PTPN11 mutation in LEOPARD syndrome.

PMID 26337637 2016 Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

PMID 27484170 2016 Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.

PMID 22555271 2012 Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

PMID 27238887 2016 Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.

PMID 24935154 2014 Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.

PMID 22411627 2012 Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization.

PMID 28681392 2017 Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor.

PMID 25544017 2015 LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.

PMID 20493809 2010 Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis.

PMID 19133693 2009 Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

PMID 21365175 2011 LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.

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

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

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

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

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

PMID 19825837 2010 The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies--the clinical phenotype of Leber congenital amaurosis.

PMID 23813970 2013 Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.

PMID 20535210 2010 Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.

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

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 20883402 2010 Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome).

PMID 21910245 2011 Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.

PMID 17935252 2007 LEOPARD syndrome with partly normal skin and sex chromosome mosaicism.

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

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.

rs121918466 in PTPN11 gene and Hypertrophic cardiomyopathy without obstruction PMID 15834506 2005 Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

PMID 17641779 2007 Mediating ERK 1/2 signaling rescues congenital heart defects in a mouse model of Noonan syndrome.

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

PMID 16166557 2005 Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells via extracellular signal-regulated kinase 1/2 signaling.

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

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

rs11066320 in PTPN11 gene and Hypothyroidism PMID 22493691 2012 Novel associations for hypothyroidism include known autoimmune risk loci.

rs121918455 in PTPN11 gene and Increased tendency to bruise PMID 19077116 2009 Genotype differences in cognitive functioning in Noonan syndrome.

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

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

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

rs121918453 in PTPN11 gene and Juvenile Myelomonocytic Leukemia PMID 19047918 2009 Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia.

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

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

PMID 26742426 2016 Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

PMID 24493721 2014 American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.

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

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

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

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

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

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

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

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 Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.

PMID 25097206 2014 Juvenile myelomonocytic leukaemia and Noonan syndrome.

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

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

PMID 25383899 2014 Mechanism and treatment for learning and memory deficits in mouse models of Noonan syndrome.

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

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

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

PMID 22371576 2012 Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature.

PMID 19251646 2009 Noonan syndrome cardiac defects are caused by PTPN11 acting in endocardium to enhance endocardial-mesenchymal transformation.

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

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

PMID 15273746 2004 Mouse model of Noonan syndrome reveals cell type- and gene dosage-dependent effects of Ptpn11 mutation.

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

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

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

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

PMID 17177198 2007 Structural and functional effects of disease-causing amino acid substitutions affecting residues Ala72 and Glu76 of the protein tyrosine phosphatase SHP-2.

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

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

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

PMID 15644411 2005 Human somatic PTPN11 mutations induce hematopoietic-cell hypersensitivity to granulocyte-macrophage colony-stimulating factor.

PMID 21555152 2011 Genetic disruption of the scaffolding protein, Kinase Suppressor of Ras 1 (KSR1), differentially regulates GM-CSF-stimulated hyperproliferation in hematopoietic progenitors expressing activating PTPN11 mutants D61Y and E76K.

PMID 18925961 2008 Genome profiling of chronic myelomonocytic leukemia: frequent alterations of RAS and RUNX1 genes.

PMID 19773259 2009 Genome wide molecular analysis of minimally differentiated acute myeloid leukemia.

PMID 19179468 2009 To model JMML pathogenesis, we generated knockin mice that conditionally express the leukemia-associated mutant Ptpn11(D61Y).

PMID 23334666 2013 The genetic landscape of high-risk neuroblastoma.

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

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

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

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

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

PMID 22315187 2012 Molecular genetic analysis of lymphoblastic blasts at the time of the ALL diagnosis revealed the germline mutation in a heterozygous state, while in the myelomonocytic blasts occurring with JMML diagnosis, the mutation p.E139D was found in a homozygous state due to a uniparental disomy (UPD).

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

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

PMID 21407260 2011 Cancer risk in patients with Noonan syndrome carrying a 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 18678287 2009 Clinical and molecular characterization of 40 patients with Noonan syndrome.

PMID 23513489 2012 [Clinical and molecular study of the Noonan syndrome].

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

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

PMID 18758896 2008 Hodgkin's lymphoma in a patient with Noonan syndrome with germ-line PTPN11 mutations.

PMID 15001945 2004 Genotype-phenotype correlations in Noonan syndrome.

rs121918456 in PTPN11 gene and LEOPARD Syndrome PMID 21339643 2011 Ptpn11(Y279C/+) (LS/+) mice recapitulated the human disorder, with short stature, craniofacial dysmorphia, and morphologic, histologic, echocardiographic, and molecular evidence of hypertrophic cardiomyopathy (HCM).

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 19768645 2010 We describe two unrelated LS cases with a common PTPN11 mutation Y279C and with completely different clinical features including distinct changes in skin pigmentation.

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

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

PMID 12161596 2002 All three cases of LEOPARD syndrome reported here have a Y279C mutation in the PTPN11 gene.

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

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

PMID 16358218 2006 Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations.

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

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

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

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 16679933 2006 A missense mutation (836-->G; Tyr279Cys) in exon 7 of PTPN11 gene was identified in this patient and his mother with LEOPARD syndrome.

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

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

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

PMID 19174044 2009 [LEOPARD syndrome].

PMID 16358218 2006 Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender loss of SHP-2 catalytic activity, identifying a previously unrecognized behavior for this class of missense PTPN11 mutations.

PMID 20883402 2010 Direct sequencing of the patients' genomic DNA revealed that all three had a consistent missense mutation [c.1403C > T (p.T468M)] in the PTPN11 gene, confirming LEOPARD syndrome with an atypical phenotype.

PMID 19054014 2009 Multiple granular cell tumors are an associated feature of LEOPARD syndrome caused by mutation in PTPN11.

PMID 22555271 2012 Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

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

PMID 17935252 2007 We report on a family with LEOPARD syndrome which was molecularly proven (p.Thr468Met in PTPN11) in a father and his adult son.

PMID 22585553 2012 Here we present a patient with severe, progressive neonatal HCM, elevated urinary catecholamine metabolites, and dysmorphic features in whom we identified a known LEOPARD syndrome-associated PTPN11 mutation (c.1403 C > T; p.T468M) and a novel, potentially pathogenic missense SOS1 variant (c.1018 C > T; p.P340S) replacing a rigid nonpolar imino acid with a polar amino acid at a highly conserved position.

PMID 24767283 2014 A new examination of the patient and his similarly affected father, who was initially referred as healthy, led us to suspect LEOPARD syndrome, The diagnosis was then confirmed by the occurrence in both patients of a heterozygous mutation c.1403 C > T, p.(Thr468Met), of PTPN11.

PMID 19133693 2009 Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

PMID 25884655 2015 PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.

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 23813970 2013 Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.

PMID 24935154 2014 Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.

PMID 19864201 2009 PTPN11 mutations in LEOPARD syndrome: report of four cases in Taiwan.

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

PMID 15470362 2004 A novel PTPN11 gene mutation bridges Noonan syndrome, multiple lentigines/LEOPARD syndrome and Noonan-like/multiple giant cell lesion syndrome.

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

PMID 20493809 2010 Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis.

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

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

PMID 23799168 2013 Syndromic Hearing Loss in Association with PTPN11-Related Disorder: The Experience of Cochlear Implantation in a Child with LEOPARD Syndrome.

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

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

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

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

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

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

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

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

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

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

PMID 15001945 2004 Genotype-phenotype correlations in Noonan syndrome.

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 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 19077116 2009 Genotype differences in cognitive functioning in Noonan syndrome.

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

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

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

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

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

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

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

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

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

PMID 22528600 2012 Extensive abdominal lipomatosis in a patient with Noonan/LEOPARD syndrome (Noonan syndrome-Multiple Lentigines).

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

PMID 14961557 2003 A novel PTPN11 mutation in LEOPARD syndrome.

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

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

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

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

PMID 21910226 2011 Comparing our patient to the literature suggests that specific mutations at codon 510 in PTPN11 (Gln510Glu, Gln510His, but not Gln510Pro) might be a predictor of fatal cardiac events in LS.

PMID 21803945 2011 However, expression of cardiac-specific transcriptional factors (Gata4, Tbx5, and Nkx2.5) did not differ significantly between the LS-type SHP2-Q510E mutants and the other mutants and controls.

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?

rs121918470 in PTPN11 gene and Large head (disorder) PMID 15520399 2004 PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

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

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

PMID 15948193 2005 Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

rs121918456 in PTPN11 gene and Leopard Syndrome 1 PMID 16679933 2006 Acute myelomonocytic leukemia in a boy with LEOPARD syndrome (PTPN11 gene mutation positive).

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

PMID 24891296 2014 A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

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

PMID 26742426 2016 Determination of the catalytic activity of LEOPARD syndrome-associated SHP2 mutants toward parafibromin, a bona fide SHP2 substrate involved in Wnt signaling.

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

PMID 14961557 2003 A novel PTPN11 mutation in LEOPARD syndrome.

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

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

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

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

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

PMID 21567923 2011 Lethal presentation of neurofibromatosis and Noonan syndrome.

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

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

PMID 19509418 2009 Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.

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

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

PMID 18253957 2008 Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

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

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 28650561 2017 Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

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

PMID 27521173 2016 Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

PMID 28483241 2017 Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

PMID 23726368 2013 Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.

PMID 28957739 2018 Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.

PMID 25912702 2015 [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

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

rs121918453 in PTPN11 gene and Leukemia, Myelocytic, Acute PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs121918455 in PTPN11 gene and Low set ears 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 12960218 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes.

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

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

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

rs11066301 in PTPN11 gene and Lupus Erythematosus, Systemic PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

rs11066301 in PTPN11 gene and Mean blood pressure PMID 27618448 2016 Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.

rs28933386 in PTPN11 gene and Metachondromatosis PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

PMID 21567923 2011 Lethal presentation of neurofibromatosis and Noonan syndrome.

PMID 25912702 2015 [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

PMID 28650561 2017 Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

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 28957739 2018 Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.

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

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

PMID 18253957 2008 Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

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

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

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

PMID 23726368 2013 Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.

PMID 19509418 2009 Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.

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

PMID 27521173 2016 Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

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

PMID 28483241 2017 Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

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

PMID 21533187 2011 Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

PMID 20577567 2010 Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease gene.

rs121918464 in PTPN11 gene and Multiple Myeloma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs28933386 in PTPN11 gene and Multiple congenital anomalies PMID 8530013 1995 Protein-tyrosine phosphatase SH-PTP2 (PTPN11) is localized to 12q24.1-24.3.

PMID 21396583 2011 Noonan syndrome and clinically related disorders.

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

PMID 4386970 1968 Hypertelorism with Turner phenotype. A new syndrome with associated congenital heart disease.

PMID 17222357 2007 Noonan syndrome.

PMID 27619028 2016 Audiological findings in Noonan syndrome.

PMID 4025385 1985 Noonan syndrome: the changing phenotype.

PMID 26249544 2015 Craniosynostosis and Noonan syndrome with KRAS mutations: Expanding the phenotype with a case report and review of the literature.

PMID 19467855 2009 The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.

PMID 21533187 2011 Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.

PMID 26297936 2015 Chronic pain in Noonan Syndrome: A previously unreported but common symptom.

PMID 27521173 2016 Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

PMID 21500339 2011 Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes.

PMID 9222968 1997 Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis).

PMID 1543375 1992 A clinical study of Noonan syndrome.

PMID 16523510 2006 LEOPARD syndrome: clinical diagnosis in the first year of life.

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

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

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

PMID 1258892 1976 Multiple lentigines syndrome. Case report and review of the literature.

rs397507547 in PTPN11 gene and Multiple nevi PMID 15834506 2005 Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia.

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

rs11066301 in PTPN11 gene and Myositis PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

rs121918453 in PTPN11 gene and NEUROBLASTOMA, SUSCEPTIBILITY TO PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

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.

rs121918459 in PTPN11 gene and Narrow forehead PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

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

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

PMID 22711529 2012 Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.

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.

rs121918453 in PTPN11 gene and Noonan Syndrome 1 PMID 15384080 2004 Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.

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

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

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

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

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

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

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

PMID 24891296 2014 A PTPN11 allele encoding a catalytically impaired SHP2 protein in a patient with a Noonan syndrome phenotype.

PMID 25173338 2014 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

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

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

PMID 15948193 2005 Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

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

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

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

PMID 28681392 2017 Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor.

PMID 24767283 2014 LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

PMID 27659786 2016 Lentiginous phenotypes caused by diverse pathogenic genes (SASH1 and PTPN11): clinical and molecular discrimination.

PMID 27238887 2016 Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.

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

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

PMID 18454468 2008 Use of human androgen receptor gene analysis to aid the diagnosis of JMML in female noonan syndrome patients.

PMID 14676626 2004 SHP-2 and myeloid malignancies.

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

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

PMID 19063751 2008 Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway.

PMID 15725481 2005 Acquired PTPN11 mutations occur rarely in adult patients with myelodysplastic syndromes and chronic myelomonocytic leukemia.

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

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

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

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

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 15539800 2004 Genetics and variation in phenotype in Noonan syndrome.

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

PMID 17227708 2007 The role of Shp2 (PTPN11) in cancer.

PMID 17222357 2007 Noonan syndrome.

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

PMID 28483241 2017 Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

PMID 27521173 2016 Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

PMID 21567923 2011 Lethal presentation of neurofibromatosis and Noonan syndrome.

PMID 28650561 2017 Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

PMID 19509418 2009 Negative regulation of Stat3 by activating PTPN11 mutants contributes to the pathogenesis of Noonan syndrome and juvenile myelomonocytic leukemia.

PMID 26785492 2015 De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.

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 28957739 2018 Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.

PMID 25912702 2015 [Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

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

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

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

PMID 18253957 2008 Hepatoblastoma in a Noonan syndrome patient with a PTPN11 mutation.

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

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

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

PMID 23726368 2013 Age-dependent germline mosaicism of the most common noonan syndrome mutation shows the signature of germline selection.

PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

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

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

rs28933386 in PTPN11 gene and Orbital separation excessive PMID 11704759 2001 Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.

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

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

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

rs121918460 in PTPN11 gene and Ostium secundum atrial septal defect PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

rs121918460 in PTPN11 gene and Patent ductus arteriosus PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

rs121918460 in PTPN11 gene and Pediatric failure to thrive PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

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

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

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

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

PMID 15001945 2004 Genotype-phenotype correlations in Noonan syndrome.

rs11066301 in PTPN11 gene and Peripheral Arterial Diseases PMID 31285632 2019 Genome-wide association study of peripheral artery disease in the Million Veteran Program.

rs11066301 in PTPN11 gene and Platelet Count measurement PMID 19820697 2009 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

rs11066301 in PTPN11 gene and Platelet mean volume determination (procedure) PMID 22423221 2012 A meta-analysis and genome-wide association study of platelet count and mean platelet volume in african americans.

rs121918459 in PTPN11 gene and Pulmonary Stenosis PMID 11992261 2002 PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.

PMID 22711529 2012 Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.

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

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

rs11066301 in PTPN11 gene and Red Blood Cell Count measurement PMID 19862010 2009 Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

rs397507520 in PTPN11 gene and Refractive amblyopia 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 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

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

rs11066301 in PTPN11 gene and Rheumatoid Arthritis PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

rs121918460 in PTPN11 gene and Right Ventricular Hypertrophy PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

rs121918455 in PTPN11 gene and Septal hypertrophy PMID 19077116 2009 Genotype differences in cognitive functioning in Noonan syndrome.

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

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

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

rs28933386 in PTPN11 gene and Short stature PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

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

rs121918464 in PTPN11 gene and Squamous cell carcinoma of lung PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs11066301 in PTPN11 gene and Systemic Scleroderma PMID 30573655 2019 Genome-wide meta-analysis reveals shared new loci in systemic seropositive rheumatic diseases.

rs11066320 in PTPN11 gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs11066320 in PTPN11 gene and Tetralogy of Fallot PMID 23297363 2013 Genome-wide association study identifies loci on 12q24 and 13q32 associated with tetralogy of Fallot.

rs121918460 in PTPN11 gene and Tricuspid Valve Insufficiency PMID 29555671 2018 A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.

rs11066301 in PTPN11 gene and White Blood Cell Count procedure PMID 19820697 2009 A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.

rs143894582 in PTPN11 gene and response to alcohol PMID 29460428 2018 Genomewide Association Study of Alcohol Dependence and Related Traits in a Thai Population.