• [[Translated articler]]Noonan Syndrome With Multiple Lentigines
• [Translated article] Noonan Syndrome With Multiple Lentigines
• <em>PTPN11</em> and <em>FLNA</em> variants in a boy with ambiguous genitalia, short stature, and non-specific dysmorphic features
• A Case of Noonan Syndrome and Kyrle Disease: Casualty or Causality?
• A Case of Noonan Syndrome and Kyrle's Disease: Coincidence or Causality?
• A case of systemic lupus erythematosus in a patient with Noonan syndrome with recurrent severe hypoglycemia
• A case report of myelodysplastic syndrome in a patient with PTPN11-related Noonan syndrome
• A Novel Homozygous Loss-of-Function Variant in <em>SPRED2</em> Causes Autosomal Recessive Noonan-like Syndrome
• A Novel Homozygous Loss-of-Function Variant in SPRED2 Causes Autosomal Recessive Noonan-like Syndrome
• A novel variant in the PTPN11 gene c.1277A>G p.(His426Arg) in a patient with Noonan Syndrome with Multiple Lentigines
• A Rare Neurological Presentation of Noonan Syndrome and Its Management-A Case Report
• Age-related retinal degeneration resulting from the deletion of Shp2 tyrosine phosphatase in photoreceptor neurons
• Anti-Müllerian hormone, testicular descent and cryptorchidism
• Approximating facial expression effects on diagnostic accuracy via generative AI in medical genetics
• Assessment of the FRET-based Teen sensor to monitor ERK activation changes preceding morphological defects in a RASopathy zebrafish model and phenotypic rescue by MEK inhibitor
• Atypical left-ventricular hypertrophy with apical aneurysm in leopard syndrome
• Autism spectrum disorder profiles in RASopathies: A systematic review
• Bioluminescence Resonance Energy Transfer (BRET)-based Assay for Measuring Interactions of CRAF with 14-3-3 Proteins in Live Cells
• Biventricular outflow tract obstruction due to hypertrophy related to compound heterozygous variants in LZTR1
• Cardiac screening in pediatric patients with neurofibromatosis type 1: similarities with Noonan syndrome?
• Cephalometric Evaluation of Children with Short Stature of Genetic Etiology: A Review
• Chromosomal abnormalities associated with fetal pleural effusion (I): General overview
• Chromosomal abnormalities associated with fetal pleural effusion (II): Specific and non-specific chromosome aberrations
• Coexisting PTPN11 and TNNT2 mutations in noonan syndrome with multiple lentigines
• Cognitive and psychiatric symptom trajectories 2-3 years after hospital admission for COVID-19: a longitudinal, prospective cohort study in the UK
• Computer-based facial recognition as an assisting diagnostic tool to identify children with Noonan syndrome
• Congenital ectropion in Noonan syndrome
• Coronary arteriopathy in a patient with Noonan phenotype: Case report
• Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant
• Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients
• Development of Calvarial Bone Osteomyelitis in a Noonan Syndrome Patient Following Fronto-Orbital Advancement of Craniosynostosis: A Novel Technique of Treatment Using Povidone and Hydrogen Peroxide Solutions
• Developmental effect of RASopathy mutations on neuronal network activity on a chip
• Diagnosis challenges in CHARGE syndrome: A novel variant and clinical description
• Electrocardiographic Changes with Age in Japanese Patients with Noonan Syndrome
• Erratum: Cochlear Implantation in Noonan Syndrome With and Without Multiple Lentigines: A Case Report and Systematic Review: Erratum
• Evaluating Procedural Performance: A Composite Outcome for Aortic and Pulmonary Valvuloplasty in Congenital Cardiac Catheterization
• Experience-dependent MAPK/ERK signaling in glia regulates critical period remodeling of synaptic glomeruli
• Facial recognition models for identifying genetic syndromes associated with pulmonary stenosis in children
• Feasibility of epicardial implantation of medtronic 3830 lead in a pediatric patient : case report
• Functional analysis of RRAS2 pathogenic variants with a Noonan-like phenotype
• Functional Classification and Interaction Selectivity Landscape of the Human SH3 Domain Superfamily
• Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome
• Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome
• Gonadal dysfunction in a man with Noonan syndrome from the LZTR1 variant: case report and review of literature
• Hashimoto's Thyroiditis in Noonan Syndrome: A Case Report
• Health Care Personnel Workdays Lost and Direct Health Care Salary Costs Incurred due to COVID-19 Infection in the Age of Widespread Vaccine Availability
• Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
• Human Genetics of Atrial Septal Defect
• Human Genetics of Hypoplastic Left Heart Syndrome
• Human Genetics of Semilunar Valve and Aortic Arch Anomalies
• Human Genetics of Ventricular Septal Defect
• Hyperbaric oxygen treatment in bilateral orchiopexy and post-circumcision haematoma in a thrombocytopenic patient with Noonan syndrome
• Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant
• Indocyanine green lymphography in the congenital chylothorax and chylous ascites
• Kartagener's Syndrome: A Case Series
• Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease
• Left ventricular posterior wall hypertrophy leads to poor prognosis of hypertrophic obstructive cardiomyopathy in children - a cohort study
• LEOPARD syndrome with PTPN11 gene mutation in monozygotic twins: A case description and literature review
• Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis
• Low protein expression of LZTR1 in hepatocellular carcinoma triggers tumorigenesis <em>via</em> activating the RAS/RAF/MEK/ERK signaling
• Maxillary Odontoma Associated With Noonan Syndrome: A Case Report
• MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept
• Multiple central giant cell granuloma of the jaws: diagnostic signposts of Noonan syndrome and RASopathy
• Mutation-induced LZTR1 polymerization provokes cardiac pathology in recessive Noonan syndrome
• Near adult height and BMI changes in growth hormone treated short children with Noonan syndrome: the Belgian experience
• Nerve enlargement in patients with Noonan syndrome: A retrospective cohort study
• Neural Crest
• Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up
• Noonan syndrome and type 1 Chiari malformation: Possible association
• Noonan Syndrome Growth Charts and Genotypes: 15-Year Longitudinal Single-Centre Study
• Noonan syndrome-like disorder: Case report and review of the literature
• Noonan syndrome-like phenotype associated with an ERF frameshift variant
• Observation and Management of Juvenile Myelomonocytic Leukemia and Noonan Syndrome-Associated Myeloproliferative Disorder: A Real-World Experience
• Orbital and Lumbosacral Plexiform Neurofibroma with PTPN11 Mutation: A Form of the RASopathy
• Orbital, Mandible, and Jaw Enlargement in Noonan Syndrome
• Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review
• Phenotypic and genotypic spectrum of noonan syndrome: A retrospective analysis of 46 consecutive pediatric patients presented at a regional cardiac center in China
• Phenotypic Expansion of Autosomal Dominant <em>LZTR1</em>-Related Disorders with Special Emphasis on Adult-Onset Features
• Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic <em>LZTR1</em> variants
• Preclinical evaluation of CRISPR-based therapies for Noonan syndrome caused by deep-intronic LZTR1 variants
• Primary surgical repair of tetralogy of fallot at the Uganda Heart Institute: a ten-year review of 30day mortality and morbidity
• PTPN11/Corkscrew activates local presynaptic MAPK signaling to regulate Synapsin, synaptic vesicle pools, and neurotransmission strength, with a dual requirement in neurons and glia
• Rare Congenital Dissecting Thoracic Aortic Aneurysm in a Child with Noonan Syndrome: A Case Report
• RASopathies for Radiologists
• RASopathies influences on neuroanatomical variation in children
• Recent advances in mechanisms ensuring the pairing, synapsis and segregation of XY chromosomes in mice and humans
• Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence
• Restraining of glycoprotein VI- and integrin α2β1-dependent thrombus formation by platelet PECAM1
• SHP2 as a primordial epigenetic enzyme expunges histone H3 pTyr-54 to amend androgen receptor homeostasis
• Small molecule inhibition for RASopathy-associated hypertrophic cardiomyopathy: Clinical application of a basic concept
• Spectrum of Mutations in <em>PTPN11</em> in Russian Cohort
• Syndromic and single gene disorders associated with fetal pleural effusion (I): Noonan syndrome, RASopathy and congenital lymphatic anomalies
• The expression of congenital Shoc2 variants induces AKT-dependent crosstalk activation of the ERK1/2 pathway
• The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy
• The pathogenic T42A mutation in SHP2 rewires the interaction specificity of its N-terminal regulatory domain
• The Raf/LIN-45 C-terminal distal tail segment negatively regulates signaling in <em>Caenorhabditis elegans</em>
• Thoracic aortic aneurysm in an adolescent with intraoperative discovery of contained rupture: a case report
• Trametinib restores the central conducting lymphatic flow in a premature infant with Noonan syndrome
• Treatment of RAF1-Related Obstructive Hypertrophic Cardiomyopathy by MEK Inhibition Using Trametinib
• Updates on germline predisposition in pediatric hematologic malignancies: What is the role of flow cytometry?