| scholarly article | Q13442814 |
| review article | Q7318358 |
| P50 | author | Marco Tartaglia | Q30170252 |
| Bruce D. Gelb | Q64462269 | ||
| Judith Allanson | Q114165901 | ||
| P2093 | author name string | Amy E Roberts | |
| Bruce D Gelb | |||
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| P433 | issue | 9863 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | Noonan syndrome | Q1543446 |
| P304 | page(s) | 333-42 | |
| P577 | publication date | 2013-01-26 | |
| P1433 | published in | The Lancet | Q939416 |
| P1476 | title | Noonan syndrome | |
| P478 | volume | 381 |
| Q53317070 | A Novel Mutation on RAF1 in Association with Fetal Findings Suggestive of Noonan Syndrome. |
| Q89699472 | A PTPN11 mutation in a woman with Noonan syndrome and protein-losing enteropathy |
| Q90437744 | A genome-wide analysis of colorectal cancer in a child with Noonan syndrome |
| Q100316335 | A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations |
| Q50709731 | A new mutation in the C-SH2 domain of PTPN11 causes Noonan syndrome with multiple giant cell lesions. |
| Q64069611 | A novel RIT1 mutation causes deterioration of Noonan syndrome-associated cardiac hypertrophy |
| Q52132468 | A novel rasopathy caused by recurrent de novo missense mutations in PPP1CB closely resembles Noonan syndrome with loose anagen hair. |
| Q35568132 | Aberrant lymphatic endothelial progenitors in lymphatic malformation development |
| Q36157128 | Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome |
| Q92303053 | Activating Mutations of RRAS2 Are a Rare Cause of Noonan Syndrome |
| Q24294030 | Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis |
| Q52663753 | Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes. |
| Q57191695 | An Association of and Mutations in a Male Presenting With Syndromic Growth Failure |
| Q52647257 | Array Comparative Genomic Hybridization as the First-line Investigation for Neonates with Congenital Heart Disease: Experience in a Single Tertiary Center. |
| Q57455562 | Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework |
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| Q38768357 | Biochemical Classification of Disease-associated Mutants of RAS-like Protein Expressed in Many Tissues (RIT1). |
| Q51818284 | CCL3 is a key mediator for the leukemogenic effect of Ptpn11-activating mutations in the stem-cell microenvironment. |
| Q30829917 | CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes |
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| Q61798041 | Clinical and mutation profile of pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: results from a Chinese cohort |
| Q58376287 | Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome |
| Q53374749 | Co-occurrence of hypertrophic cardiomyopathy and myeloproliferative disorder in a neonate with Noonan syndrome carrying Thr73Ile mutation in PTPN11. |
| Q45867860 | Coagulation abnormalities and haemostatic surgical outcomes in 142 patients with Noonan syndrome. |
| Q89121481 | Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions |
| Q90254897 | Comparison of effectiveness of growth hormone therapy according to disease-causing genes in children with Noonan syndrome |
| Q35079992 | Comprehensive massive parallel DNA sequencing strategy for the genetic diagnosis of the neuro-cardio-facio-cutaneous syndromes. |
| Q38359194 | Compromised MAPK signaling in human diseases: an update |
| Q47932289 | Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome |
| Q89542910 | Congenital heart defects in Noonan syndrome: Diagnosis, management, and treatment |
| Q51835990 | Congenital heart disease and genetic syndromes: new insights into molecular mechanisms. |
| Q91995250 | Correlation between genetic heterogeneity and variability for response to growth hormone in Noonan syndrome |
| Q55517431 | Co‐occurrence of hypertrophic cardiomyopathy and juvenile myelomonocytic leukemia in a neonate with Noonan syndrome, leading to premature death. |
| Q64042709 | Craniofacial and cutaneous findings in Noonan, Costello and LEOPARD syndromes |
| Q99405895 | Cubital tunnel syndrome in Noonan syndrome secondary to hypoplasia of the humeral trochlea |
| Q92550947 | De Novo Missense Variants in FBXW11 Cause Diverse Developmental Phenotypes Including Brain, Eye, and Digit Anomalies |
| Q96230851 | Digenic inheritance of subclinical variants in Noonan Syndrome patients: an alternative pathogenic model? |
| Q89800940 | Double-chambered right ventricle complicated by hypertrophic obstructive cardiomyopathy diagnosed as Noonan syndrome |
| Q48451148 | ERKquake in Noonan syndrome: one step closer to personalized medicine |
| Q26852542 | Evaluation and diagnosis of the dysmorphic infant |
| Q59126209 | Evaluation of bleeding disorders in patients with Noonan syndrome: a systematic review |
| Q28649688 | Evolutionary signatures amongst disease genes permit novel methods for gene prioritization and construction of informative gene-based networks |
| Q56770882 | Expanding the SHOC2 mutation associated phenotype of Noonan syndrome with loose anagen hair: structural brain anomalies and myelofibrosis |
| Q90248572 | Fatal heart failure caused by severe pulmonary regurgitation, tricuspid regurgitation and late-onset mitral stenosis in an adult patient with Noonan syndrome: a case report |
| Q36127065 | Five-year response to growth hormone in children with Noonan syndrome and growth hormone deficiency |
| Q37626329 | Frequency of aortic dilation in Noonan syndrome |
| Q50210065 | Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes |
| Q91737749 | Gain-Of-Function E76K-Mutant SHP2 Promotes Cell Proliferation, Metastasis, And Tumor Growth In Glioblastoma Through Activation Of The ERK/CREB Pathway |
| Q52646137 | Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner. |
| Q90669133 | Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association |
| Q26786025 | Genetic Syndromes associated with Congenital Heart Disease |
| Q37073895 | Genetic predispositions to childhood leukemia. |
| Q39286284 | Genetics of Short Stature |
| Q98178342 | Genomic Diagnosis for Pediatric Disorders: Revolution and Evolution |
| Q40180317 | Genotype and phenotype spectrum of NRAS germline variants |
| Q88923067 | Giant cell lesion of the jaw as a presenting feature of Noonan syndrome |
| Q60923377 | Growth hormone therapy in patients with Noonan syndrome |
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| Q40229273 | Growth references for Japanese individuals with Noonan syndrome. |
| Q36490084 | HSF1: Guardian of Proteostasis in Cancer |
| Q99557277 | Haploinsufficiency of RREB1 causes a Noonan-like RASopathy via epigenetic reprogramming of RAS-MAPK pathway genes |
| Q37525603 | Hashimoto thyroiditis with an unusual presentation of cardiac tamponade in Noonan syndrome |
| Q38166123 | Heart failure in congenital heart disease: a confluence of acquired and congenital |
| Q38161524 | Heart transplantation in pediatric cardiomyopathies |
| Q34425369 | Heterozygous germline mutations in A2ML1 are associated with a disorder clinically related to Noonan syndrome. |
| Q58493369 | Hydrops fetalis in a preterm newborn heterozygous for the c.4A>GSHOC2mutation |
| Q55058644 | Hydrops, fetal pleural effusions and chylothorax in three patients with CBL mutations. |
| Q89494701 | Hypogonadism and Cryptorchidism |
| Q37599060 | In vivo severity ranking of Ras pathway mutations associated with developmental disorders |
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| Q41430370 | Intellectual development in Noonan syndrome: a longitudinal study. |
| Q39401415 | Intestinal lymphatic vasculature: structure, mechanisms and functions |
| Q47214688 | Juvenile myelomonocytic leukaemia and Noonan syndrome. |
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| Q34581270 | K-RasV14I recapitulates Noonan syndrome in mice |
| Q30439033 | LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies |
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| Q27005981 | Lymphatic fate specification: an ERK-controlled transcriptional program |
| Q35039329 | MAPK activation in mature cataract associated with Noonan syndrome |
| Q28506602 | MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus |
| Q38218950 | Malformation syndromes associated with disorders of sex development |
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| Q51735033 | Management of Cardiovascular Disorders in Patients with Noonan Syndrome: A Case Report. |
| Q88688209 | Masses of developmental and genetic origin affecting the paediatric craniofacial skeleton |
| Q39306963 | Modeling Cancer with Pluripotent Stem Cells |
| Q39031139 | Modeling RASopathies with Genetically Modified Mouse Models. |
| Q50587974 | Molecular Diversity and Associated Phenotypic Spectrum of Germline CBL Mutations. |
| Q30380389 | Morphological spectrum of peripheral nerve sheath tumors: An insight into World Health Organization 2013 classification. |
| Q53212182 | Motor performance in children with Noonan syndrome. |
| Q52822076 | Multifocal tenosynovial giant cell tumors in a child with Noonan syndrome. |
| Q26783023 | Mutation in NRAS in familial Noonan syndrome--case report and review of the literature |
| Q42620938 | Mutation-Specific Mechanisms of Hyperactivation of Noonan Syndrome SOS Molecules Detected with Single-molecule Imaging in Living Cells |
| Q52562181 | NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes. |
| Q31150423 | Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review |
| Q64079255 | New Noonan syndrome model mice with RIT1 mutation exhibit cardiac hypertrophy and susceptibility to β-adrenergic stimulation-induced cardiac fibrosis |
| Q34025431 | Next-generation sequencing identifies rare variants associated with Noonan syndrome |
| Q91259903 | Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA |
| Q91846314 | Nonclassical GH Insensitivity: Characterization of Mild Abnormalities of GH Action |
| Q64108107 | Noonan Syndrome in South Africa: Clinical and Molecular Profiles |
| Q37549407 | Noonan syndrome - a new survey |
| Q53724067 | Noonan syndrome in diverse populations. |
| Q52101515 | Noonan syndrome, PTPN11 mutations, and brain tumors. A clinical report and review of the literature. |
| Q88371226 | Noonan syndrome-causing SHP2 mutants impair ERK-dependent chondrocyte differentiation during endochondral bone growth |
| Q52149150 | Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy. |
| Q89284057 | Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients |
| Q58804985 | Off-target inhibition by active site-targeting SHP2 inhibitors |
| Q47961939 | PRKAG2 mutations presenting in infancy |
| Q89951249 | Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation |
| Q60045343 | Pathogenic gene screening in 91 Chinese patients with short stature of unknown etiology with a targeted next-generation sequencing panel |
| Q35921878 | Peripheral blood cells from children with RASopathies show enhanced spontaneous colonies growth in vitro and hyperactive RAS signaling |
| Q90325715 | Personality and Psychopathology in Adults with Noonan Syndrome |
| Q38711139 | Perspectives in Pediatric Pathology, Chapter 17. Other Hypergonadotropic Hypogonadisms |
| Q58881420 | Phenotypic variability associated with the invariantSHOC2c.4A>G (p.Ser2Gly) missense mutation |
| Q38384754 | Pilocytic astrocytoma: pathology, molecular mechanisms and markers. |
| Q37517053 | Postsurgical pneumoencephaly in a patient with Klippel-Feil syndrome |
| Q37494794 | Pragmatic language impairment in children with Noonan syndrome |
| Q52536295 | Prenatal findings in cardio-facio-cutaneous syndrome. |
| Q93127413 | Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease |
| Q52579005 | Pulmonary Vasculitis and a Horseshoe Kidney in Noonan Syndrome. |
| Q28252058 | RAS diseases in children |
| Q26800379 | RASopathies: unraveling mechanisms with animal models |
| Q54973644 | RIT1 controls actin dynamics via complex formation with RAC1/CDC42 and PAK1. |
| Q92370778 | RIT1 oncoproteins escape LZTR1-mediated proteolysis |
| Q36839960 | RSK3 is required for concentric myocyte hypertrophy in an activated Raf1 model for Noonan syndrome |
| Q33653565 | Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11. |
| Q26778080 | Regulation of Endothelial Adherens Junctions by Tyrosine Phosphorylation |
| Q38136655 | Regulation of ras exchange factors and cellular localization of ras activation by lipid messengers in T cells |
| Q38343713 | Role of multimodality cardiac imaging in the management of patients with hypertrophic cardiomyopathy: an expert consensus of the European Association of Cardiovascular Imaging Endorsed by the Saudi Heart Association |
| Q38755297 | SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling |
| Q55059495 | SOS1 frameshift mutations cause pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B. |
| Q38903937 | Separate origins of the left internal and external carotid arteries from the aortic arch and cervical internal carotid artery aneurysm in a patient with Noonan syndrome |
| Q26781983 | Short and tall stature: a new paradigm emerges |
| Q90848336 | Shp2 in myocytes is essential for cardiovascular and neointima development |
| Q57300555 | Sleep-disordered breathing in paediatric setting: existing and upcoming of the genetic disorders |
| Q64102408 | Social cognitive training for adults with Noonan syndrome: a feasibility study |
| Q89908075 | Some of the Factors Involved in Male Infertility: A Prospective Review |
| Q42816100 | Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations. |
| Q41432541 | Sticking It to Cancer with Molecular Glue for SHP2 |
| Q29147386 | Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome |
| Q89892430 | Suckling, Feeding, and Swallowing: Behaviors, Circuits, and Targets for Neurodevelopmental Pathology |
| Q92393717 | Sudden cardiac arrest in the field in an 18-year-old male athlete with Noonan syndrome: case presentation and 5-year follow-up |
| Q26849438 | Syndromic disorders with short stature |
| Q48234311 | Taking It Off: New Insights into the Role of Tyrosine Phosphorylation-dependent Pathways in the Pathogenesis of Pulmonary Fibrosis |
| Q27026323 | Targeting RAF kinases for cancer therapy: BRAF-mutated melanoma and beyond |
| Q37395130 | The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study |
| Q41531872 | The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras(V14I). |
| Q37058507 | The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome |
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