Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult-Onset Acute Myeloid Leukemia.

Hypertrophic Cardiomyopathy as a Key Feature of MRAS-Related Noonan Syndrome: New Case and Comprehensive Literature Review.

Pulmonary Hypertension in Pediatric Patients with Noonan Syndrome Undergoing Cardiac Catheterization.

Largely preserved vestibular function despite severe-to-profound hearing loss in Noonan syndrome spectrum disorders.

De Novo RRAS2 Pathogenic Variant in a Fetus With Bilateral Radial Ray and Multisystem Anomalies.

Novel Variants in PTPN11, NF1, RASA2, and MAP2K1: Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.

Phosphoproteomics elucidates the functional impact of the PTPN11 p.Asn308Ser variant in a Noonan syndrome pedigree.

The 9th International RASopathies Symposium.

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies.

Patient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies.

Natural history of coronary aneurysms associated with Noonan's syndrome.

Clinical phenotypes and cochlear implant outcomes in patients with PTPN11-associated noonan spectrum disorders: Insights from a genetically screened cohort.

PTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants.

Ossification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients.

Once-weekly somapacitan in children with Noonan syndrome: randomized controlled phase 3 trial.

Irreversible blindness induced by vitamin A deficiency in a child with avoidant/restrictive food intake disorder secondary to Noonan syndrome.

Automated bone age assessment in rare pediatric growth disorders: a comparative study using Deeplasia.

Atrial Septal Defect Surgical Closure Following Trametinib Utilization in Noonan Syndrome-Associated Hypertrophic Cardiomyopathy.

Noonan Syndrome With Multiple Lentigines Mimicking Obstructive Hypertrophic Cardiomyopathy Treated by Septal Myectomy.

Development and Treatment of Severe Lordoscoliosis in a Patient With Noonan Syndrome With Multiple Lentigines (NSML): A Case Report.

Genotype-Phenotype Analysis and New Clinical Findings in a Series of 24 Patients Presenting with Noonan Syndrome and Related Disorders.

Paediatric Retinal Detachment in a Patient With Coexistent Stickler and Noonan Syndromes: The Importance of a Multidisciplinary Approach.

Dysregulated TGFβ-ERK Signaling Drives Aberrant Extracellular Matrix Production in Noonan Syndrome-Associated Pulmonary Valve Stenosis.

Incidence and severity of SARS-CoV-2 infection and vaccine BNT162 side effects in children and adolescents with Noonan Syndrome: a national multicentric study.

Unraveling the Impact of KRAS Accessory Proteins on Oncogenic Signaling Pathways.

Advancing Obstetric Care: The Role of Targeted Next-Generation Sequencing in Pregnancies with Structurally Normal Fetuses.

Noonan syndrome spectrum disorders in real life: patient characteristics and response to growth hormone therapy in a genetically defined single-country multicenter cohort.

Neuropathic Pain and Enlarged Nerves in Adult Noonan Syndrome and Noonan Syndrome With Multiple Lentigines: Health-Related Quality of Life and Neurologic Symptoms.

Structure of SHOC2-KRAS-PP1C complex reveals RAS isoform-specific determinants and insights into targeting complex assembly by RAS inhibitors.

Novel characterization of MRAS mutation-associated Noonan syndrome: Mild adult-onset hypertrophic cardiomyopathy combined with infective endocarditis: A case report.

Domain-specific phenotypic profiles in RAF1-related Noonan syndrome.

Molecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature.

Understanding Molecular Basis of PTPN11-Related Diseases.

Ventricular arrhythmia and Noonan syndrome with leucine zipperlike transcription regulator 1 mutations: expanding the phenotype with a case report and review of the literature.

Sirolimus for Recurrent Chylothorax and Edema in an Infant with Noonan Syndrome after Resolved Hydrops Fetalis: A Case Report.

CBL-Mutated Juvenile Myelomonocytic Leukaemia With Loss of Heterozygosity on 11q Detected by Microarray: Not Always Such a Favourable Outcome.

Genetic insights and diagnostic challenges in inherited bone marrow failure syndromes: a comprehensive study from a low middle-income country.

Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk.

Real-World Evidence of Treatment Patterns and Costs of Turner Syndrome and Noonan Syndrome in the USA.

Protein domain-specific genotype-phenotype correlation study of neurofibromatosis type 1.

Phenotypic Analysis of Embryos in a Noonan Syndrome Model Mouse With the Rit1 A57G Mutation.

Pulmonary hypertension in patients with Noonan syndrome.

Clinical characteristics of 41 children with hypertrophic cardiomyopathy: A single-center retrospective study.

Novel use of placental growth hormone in managing intrauterine growth restriction in Noonan syndrome.

Heterogeneity of Orodental Features in a Family with Noonan Syndrome.

Modified Nuss procedure versus Ravitch in concurrent repair of pectus deformity and open-heart surgery.

Clinical Spectrum of Noonan Syndrome-Associated Myeloproliferative Disorder.

Therapeutic Response to Myosin Inhibitor Therapy in Noonan Syndrome-Associated Obstructive Hypertrophic Cardiomyopathy.

M-Ras distinct activation scenarios: A mechanistic outlook and targeting.

Lupus vorax: A rare case of facial tuberculosis in a patient with Noonan syndrome.

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios.

Targeted fetal NGS panel reveals genetic conditions in sonographically normal fetuses: Insights from a large cohort study.

EndoCompass Project: Research Roadmap for Growth Disorders.

Anesthetic Μanagement of an Emergency Craniotomy in a Patient With Noonan Syndrome: A Case Report.

Prevalence of neurodevelopmental and psychiatric disorders in Noonan syndrome: a systematic review and meta-analysis.

Biventricular Surgical Approach in Noonan Syndrome With Hypertrophic Obstructive Cardiomyopathy.

Long-term effectiveness and safety of daily growth hormone therapy in Japanese children with Noonan syndrome: a post-marketing surveillance study.

Analysis of the clinical features of neurocristopathy-related hearing loss and how these relate to outcomes after cochlear implantation.

Transdiagnostic similarities and distinctions in brain networks associated with autistic social impairments: a prospective cohort study.

Deficiency of anterior pituitary hormones in Noonan syndrome and its impact on response to growth hormone therapy.

Current opinions on Noonan syndrome and RASopathies.

Optic nerve changes in PTPN11-related Noonan syndrome.

Clinical and Genetic Characterization of Noonan Syndrome in a Romanian Cohort from Transylvania: Details on PTPN11 c.922A>G Variant and Phenotypic Spectrum.

Germline Predisposition to Pediatric Lymphoid Malignancies: Genetic Tumor Syndromes Identified in a Single-Center Study.

Homozygous LZTR1 Variant Lacking the Second BTB Domain Associated With Bone Marrow Failure and Multiple Congenital Anomalies Distinct From Those of Noonan Syndrome.

Anesthetic Management During Post-tonsillectomy Hemorrhage in a Child With Noonan Syndrome: A Case Report.

Five Years of Combined Newborn Screening Quantifying TREC and KREC in Switzerland.

Pathogenesis of Noonan syndrome is modulated by NOC2L, a novel interactor of LZTR1 leading to impaired p53 signalling.

Langerhans Cell Histiocytosis in Cardiofaciocutaneous Syndrome.

Heart transplantation in special patient populations.

Ras-related protein 2 limits vascular smooth muscle cell phenotypic switching and abdominal aortic aneurysm development.

Multivessel Cerebral Occlusion in Noonan Syndrome.

Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.

Multidisciplinary Treatment of Patients With Noonan Syndrome: A Consensus Statement.

Out of Sync? Rare Genetic Disease and the Chronopolitics of Care.

Expanding the Genetic Landscape of RASopathies: Significance of Including NF1 in Targeted Panels.

PRKAG2 Syndrome Presenting With Fetal Sinus Bradycardia and Pulmonary Valve Stenosis as Initial Manifestations.

Genotype-phenotype correlations with autism spectrum disorder-related traits in noonan syndrome and noonan syndrome with multiple lentigines: a cross-sectional study.

Central Conducting Lymphatic Abnormalities in Noonan Syndrome Identified Using SPECT/CT Lymphoscintigraphy.

Cavitary Lung Abscess Secondary to a Tracheal Bronchus: A Pediatric Patient With Noonan Syndrome.

Noonan syndrome and autoimmune hepatitis: patient report and literature review.

T1w/T2w ratio suggests reduced intracortical myelin content in youth with RASopathies.

Transdiagnostic similarities and distinctions in brain networks associated with ASD symptoms: A prospective cohort study.

Anesthetic implications of elective cesarean section in a parturient with Noonan syndrome and complex cardiomyopathy: A case report.

Noonan Syndrome With Complex Pulmonary Stenosis at High Altitude: Impact of Delayed Diagnosis.

Noonan syndrome with PTPN11 gene variant presenting as isolated short stature: a case report.

Clinical and molecular analysis of seventy-one fetal cases with RASopathies.

Prenatal diagnosis of a familial heterozygous pathogenic variant in the PTPN11 gene (c.1510A>G, p.M504V) in a fetus with increased nuchal translucency and pleural effusion and a mother carrier with atypical Noonan syndrome.

First Transcatheter Pulmonary Valve Replacement in Tanzania: Feasibility of Advanced Cardiac Interventions in Resource-Limited Settings.

Executive and Social Functioning in Children and Adolescents With Noonan Syndromes: Cognition and Behavior.

Percutaneous Thoracic Duct Externalization and Autotransfusion in Patients With Lymphatic Failure Due to Elevated Central Venous Pressure.

Noonan Syndrome and Rett Syndrome in An 8-Year-Old Girl With A Tectal Neoplasm.

Imatinib For Treatment of Multifocal Maxillofacial Giant Cell Lesions: A Case Series.

SHP2 genetic variants in NSML-associated RASopathies disrupt the PZR-IRX transcription factor signaling axis.

Case Report: Chylopericardium after Heart Transplantation due to Lymphatic Malformation in a Patient With Noonan Syndrome.

Mirror syndrome and placental ectopic liver in association with de novo SOS1 variant.

A child with tuberous sclerosis having Novel NRAS gene mutation.

Everolimus therapy in an infant with Noonan syndrome with multiple lentigines.

PZR: Advances in research from cellular signaling Hub to emerging therapeutic targets.

Subcortical shape alterations in children with Noonan syndrome spectrum: insights into genotype-phenotype associations.

Oral Health and Dental Management Strategies in Noonan Syndrome: A Case Report.

Encephalocraniocutaneous lipomatosis-a neuroradiological perspective.

A Noonan Syndrome Mimicking Acute Coronary Syndrome.

Non-Immune Hydrops Fetalis, Multifocal Chorangiomatosis, and Noonan Syndrome 8.

Increased Prevalence of Psychiatric Disorders in Children with RASopathies: Comparing NF1, Noonan Syndrome Spectrum Disorder, and the General Population.

Expanding the Phenotypic Spectrum Associated with DPH5-Related Diphthamide Deficiency.

[Hypertrophy of the lumbosacral nerve roots in Noonan syndrome with multiple lentigines: a case report].

Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients.

Cochlear Implantation in a Patient With Noonan Syndrome and Enlarged Cochlear Apertures.

Targeted Therapy for Complex Lymphatic Anomalies in Patients with Noonan Syndrome and Related Disorders.

Abernethy malformation (Type II) presenting in a 6-day-old boy with Noonan syndrome: a case report.

RIT1 Drives Oncogenic Transformation and Is an Actionable Target in Lung Adenocarcinoma.

SFX-01 is therapeutic against myeloproliferative disorders caused by activating mutations in Shp2.

Multiplexed single-cell transcriptomics reveals diverse phenotypic outcomes for pathogenic SHP2 variants.

Advancing edge-based clustering and graph embedding for biological network analysis: a case study in RASopathies.

Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.

Complete commissural agenesis in a child with Noonan-like syndrome with loose anagen hair 2.

RAF1 mutation expands the cardiac phenotypic spectrum of Noonan syndrome: A case report.

Role of Histopathology of Skin Lesions in Diagnosing MAP2K1-Positive Cardiofaciocutaneous Syndrome.

Serum Markers of Bone Turnover and Bone Remodeling in Children with Noonan Syndrome: Genotype-Phenotype Correlation.

Broad Electrocardiogram Syndromes Spectrum: From Common Emergencies to Particular Electrical Heart Disorders-Part II.

Experience with etilefrine in refractory non-traumatic chylothorax: a case report.

[Analysis of clinical characteristics and NF1 gene variants in a child with Neurofibroma-Noonan syndrome].

Review of 40 genes causing congenital myasthenic syndromes.

RASopathies. Part II: Cutaneous and extracutaneous manifestations.

Protein-losing enteropathy and multiple vasculature dysplasia in LZTR1-related Noonan syndrome: A case report and review of literature.

RASopathies. Part I: Genetics and therapeutic considerations.

Eosinophilic gastroenteritis in a 14-year-old patient with Noonan syndrome with a PTPN11 variation: a case report.

Second Trimester Ultrasound Diagnosis of External Hydrocephalus in Two Fetuses with Noonan Syndrome-Case Report Series.

Urethral Polyp: A Rare Cause of Urethral Obstruction in Newborns and Children with Special Needs-A Case Series.

Biallelic SH2B3 germline variants are associated with a neonatal myeloproliferative disease and multisystemic involvement.

Severe Nerve Enlargement in SOS2-Related Noonan Syndrome.

Recurrent cellulitis associated with lymphoedema in Noonan syndrome: case reports with RIT1 variants and literature review.

Rapamycin treatment for progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines.

Targeting cardiomyopathies associated with RASopathies: the role of mitogen-activated protein kinase inhibitors and therapeutic challenges.

Irritability in children with RASopathies, insights into emotional dysregulation and social impairment.

ACTC1 Variants Result in Isolated and Syndromic Cardiac Phenotypes.

Truncating Variants in RREB1 Cause a Novel RASopathy Syndrome of Congenital Heart Disease, Genitourinary Malformations, and Developmental Delay.

An Efficient Protocol to Assess ERK Activity Modulation in Early Zebrafish Noonan Syndrome Models via Live FRET Microscopy and Immunofluorescence.

Co-Occurrence of Dysembryoplastic Neuroepithelial Tumor and Hodgkin Lymphoma in a Patient with Noonan Syndrome and Mutation in the PTPN11 Gene.

Deciphering the structural and dynamic effects of SHP2-E76 mutations: mechanistic insights into oncogenic activation.

Molecular Dynamics Simulations of the SPRED2Leu100Pro EVH-1 Domain Complexed with the GAP-Related Domain of Neurofibromin.

Noonan Syndrome and Heart Failure in a Postpartum Patient.

Chiari 1 malformation in patient with Noonan syndrome: A case report and review of literature.

Expanding the genetic spectrum of short rib polydactyly syndrome: Novel DYNC2H1 variants and functional insights.

Osteosarcoma Arising in Noonan Syndrome/RASopathy Complex: First Case Report.

Update on the Clinical and Molecular Characterization of Noonan Syndrome and Other RASopathies: A Retrospective Study and Systematic Review.

Quantitative T1 Mapping Indicates Elevated White Matter Myelin in Children With RASopathies.

Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis.

Rare missense variants in FNDC1 are associated with severe adolescent idiopathic scoliosis.

Infant with Known Dandy-Walker Malformation and Poor Feeding Found to Have Additional Diagnosis.

Neurofibromatosis-Noonan syndrome: a prospective monocentric study of 26 patients and literature review.

Efficacy of Sirolimus in Treating Refractory Lymphatic Malformation in Noonan Syndrome: A Case Study.

Modified "Posterior Cervical Lift" Correction of Webbed Neck Deformity.

[A rare placental lesion: Intraparenchymal hepatic heterotopia].

A Novel Description of Immunodeficiency and Immune Dysregulation in a 14-Year-Old Girl with Noonan Syndrome 13.

RVOT Stenting and Trametinib in an Infant With Noonan Syndrome, Pulmonary Stenosis, and Hypertrophic Cardiomyopathy.

First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case.

Incidental Discovery of Complications of Cryptorchidism During Laparoscopic Inguinal Hernia Surgery.

Cardiovascular aspects of Noonan syndrome and related disorders.

Gene signatures and genotype-phenotype correlations of sensorineural hearing loss in Noonan syndrome and related RASopathies.

Long-Term Efficacy and Safety of Growth Hormone in Children Suffering from Short Stature in China (CGLS): An Open-Label, Multicenter, Prospective and Retrospective, Observational Study.

Signaling scaffold Shoc2 regulates lymphangiogenesis by suppressing mTORC1-mediated IFN responses.

Assessment of Fetal Posterior Fossa Anomalies at 11-13+6 Gestational Weeks in the Midsagittal Cranial Plane by Three-Dimensional Multiplanar Sonography: A Prospective Study.

Plastic Bronchitis in Noonan Syndrome: Further Evidence Suggesting a Higher Risk of Lymphatic Abnormalities in Individuals Harboring Variants in PTPN11 Residue p.Phe285.

RASopathies and Cardiac Complications: Insights into Mechanisms, Diagnosis, and Innovative Treatments.

Cardiac MRI Characteristics of Noonan Syndrome Associated With Hypertrophic Cardiomyopathy and Congenital Heart Disease.

Etiologies of Early-Onset Hearing Impairment in Rwanda.

Impact of MEK Inhibition on Childhood RASopathy-Associated Hypertrophic Cardiomyopathy.

A familial modeling framework for advancing precision medicine for children with neuropsychiatric disorders.

Noonan Syndrome Associated with a Patent Foramen Ovale.

[Clinical characteristics analysis of children with Noonan-like syndrome with loose anagen hair].

Genetic Insights Into Recurrent Granular Cell Tumours in an Adolescent: The Role of Cytology and Next-Generation Sequencing in the Diagnosis of RASopathies.

Evaluation of information flows in the RAS-MAPK system using transfer entropy measurements.

Trametinib as a targeted treatment in cardiac and lymphatic presentations of Noonan syndrome.

[Perioperative management of cochlear implantation and analysis on the influencing factors of efficacy in patients diagnosed as hereditary syndromic hearing loss].

Heart Transplantation Outcomes in Pediatric Patients with Noonan Syndrome: An Institutional Case Series.

Noonan syndrome and parasternal pericardiocentesis.

Noonan Syndrome, Cancer Risk, and Growth Hormone Treatment.

Aberrant ERK signaling in astrocytes impairs learning and memory in RASopathy-associated BRAF mutant mouse models.

Health outcomes and drug utilisation in children with Noonan syndrome: a European cohort study.

Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways.

Hypertrophic cardiomyopathy combined with renal and adrenal aplasia in a male with Noonan syndrome from RAF1 variant.

Hypertrophic cardiomyopathy: prevalence of disease-specific red flags.

Case Report: A rare case of Noonan syndrome with multiple lentigines manifesting as cardiac enlargement.

Impact of pubertal timing on growth progression and final height in subjects affected by RASopathies.

Beyond the postmortem diagnosis of hypertrophic cardiomyopathy: a genetic approach guided by clinical and morphological features in Noonan syndrome.

Endoscopic Mitral Surgery in Noonan Syndrome-Case Report and Considerations.

GH Therapy in Non-Growth Hormone-Deficient Children.

[Growth and development patterns of Noonan syndrome and advances in the treatment of short stature].

Long-acting growth hormones: innovations in treatment and guidance on patient selection in pediatric growth hormone deficiency.

Longitudinal outcomes in Noonan syndrome.

Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.

Severe coronary artery ectesia in a paediatric patient with Noonan syndrome presenting for transcatheter pulmonary valve placement.

Irritability in Children with Rasopathies, Insights into Emotional Dysregulation and Social Skills Impairments.