Disease: Noonan syndrome
- [[Translated articler]]Noonan Syndrome With Multiple Lentigines
- [Translated article] Noonan Syndrome With Multiple Lentigines
- <em>De novo</em> variants of dominant monogenic disorders in Vietnam detected by a noninvasive prenatal test: a case series
- A bicarotid trunk with associated right retroesophageal subclavian artery in a child with neurofibromatosis type 1 complicated by a left hemispheric stroke
- A Case of Noonan Syndrome and Kyrle Disease: Casualty 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 association of a high grade glioblastoma, cerebral abscess and acute lymphoblastic leukemia in a child with Noonan syndrome
- Anterior Uveitis and Coats Disease in a 16-Year-Old Girl with Noonan Syndrome-A Case Report
- Anti-Müllerian hormone, testicular descent and cryptorchidism
- Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics
- 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
- 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
- Bleeding phenotype and hemostatic evaluation by thrombin generation in children with Noonan syndrome: A prospective study
- Case report: Noonan syndrome with protein-losing enteropathy
- Chromosomal abnormalities associated with fetal pleural effusion (I): General overview
- Chromosomal abnormalities associated with fetal pleural effusion (II): Specific and non-specific chromosome aberrations
- Chylothorax related to acute SARS-CoV-2 infection in a patient with Noonan syndrome with prior uncomplicated cardiac surgeries
- Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals
- Clinical Variability in a Noonan Syndrome Family with a Homozygous <em>PTPN11</em> Gene Variant in Two Individuals
- Clinical Variability in a Noonan Syndrome Family with a Homozygous PTPN11 Gene Variant in Two Individuals
- Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A>G (p.Ser2Gly) Variant
- Cochlear Implantation in Noonan Syndrome With and Without Multiple Lentigines: A Case Report and Systematic Review
- Coexisting PTPN11 and TNNT2 mutations in noonan syndrome with multiple lentigines
- Congenital ectropion in Noonan syndrome
- 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
- 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
- Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A 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
- Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation
- Generation of human induced pluripotent stem cell lines derived from three Noonan syndrome patients from a single family carrying the heterozygous PTPN11 c.188 A > G (p.Y63C) mutation
- 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
- Heat illness presentations to emergency departments in Western Sydney: surveillance for environmental, personal and behavioural risk factors
- High frequency of hotspot mutation in PTPN11 gene among Moroccan patients with Noonan syndrome
- Hypertrophic Cardiomyopathy Secondary to <em>RAF1</em> Cysteine-Rich Domain Variants
- Immunological and hematological findings as major features in a patient with a new germline pathogenic CBL variant
- Impaired communication ability in SOX11 syndrome
- Indocyanine green lymphography in the congenital chylothorax and chylous ascites
- Keratosis Pilaris
- Language profiles in Noonan Syndrome - A multiple case study
- Large-scale phenotyping of patients with long COVID post-hospitalization reveals mechanistic subtypes of disease
- Long COVID research: an update from the PHOSP-COVID Scientific Summit
- Long-term outcomes of surgery for obstructive hypertrophic cardiomyopathy in a pediatric cohort
- Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic <em>CBL</em> Variant
- Mastocytosis in a Case of Noonan Syndrome Caused by a De Novo Pathogenic CBL Variant
- Maxillary Odontoma Associated With Noonan Syndrome: A Case Report
- MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept
- Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review
- Multiple central giant cell granuloma of the jaws: diagnostic signposts of Noonan syndrome and RASopathy
- Mutations in PTPN11 could lead to a congenital myasthenic syndrome phenotype: a Noonan syndrome case series
- Myeloproliferative disorder in a patient with RIT1-associated Noonan syndrome: Case report and literature review
- Myocardial hypertrophy with aortic dysplasia: a rare case of Noonan syndrome
- Myxomatous degeneration of cardiac valves in a fetus with 6q25.1 (TAB2) deletion
- Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy
- Near adult height and BMI changes in growth hormone treated short children with Noonan syndrome: the Belgian experience
- Non-Contrast MR Lymphography and Intranodal Dynamic Contrast MR Lymphangiography in Children with Congenital Heart Disease-Imaging Findings as well as Impact on Patient Management and Outcome
- Noonan Syndrome-related Myeloproliferative Disorder Occurring in the Neonatal Period: Case Report and Literature Review
- Novel therapeutic perspectives in Noonan syndrome and RASopathies
- Orbital, Mandible, and Jaw Enlargement in Noonan Syndrome
- Overlap between ophthalmology and psychiatry - A narrative review focused on congenital and inherited conditions
- 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
- Post-acute COVID-19 neuropsychiatric symptoms are not associated with ongoing nervous system injury
- 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
- Prenatal diagnosis of autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants presented with thick nuchal translucency and cardiac abnormalities
- Proteomic analysis of salivary inflammatory biomarkers of developmental gingival enlargements in patients with West and Noonan syndromes: a preliminary pilot single-center retrospective study
- 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
- Recognition of Genetic Conditions After Learning With Images Created Using Generative Artificial Intelligence
- Recurrent cellulitis and bacteremia in a patient with Noonan syndrome: A case report
- Research on the Pathogenesis of Cognitive and Neurofunctional Impairments in Patients with Noonan Syndrome: The Role of Rat Sarcoma-Mitogen Activated Protein Kinase Signaling Pathway Gene Disturbances
- Restraining of glycoprotein VI- and integrin α2β1-dependent thrombus formation by platelet PECAM1
- Role of genetic investigation in the diagnosis of short stature in a cohort of Italian children
- SAM domain variants of EPHB4 associated with aberrant signaling are linked to lymphatic-related fetal hydrops and facial dysmorphology
- SHP2 clinical phenotype, cancer, or RASopathies, can be predicted by mutant conformational propensities
- Signal Abnormalities in Noonan Syndrome are Probably Consistent with Focal Areas of Signal Intensity (FASI)
- Skeletal defects and bone metabolism in Noonan, Costello and cardio-facio-cutaneous syndromes
- 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 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy
- The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications
- The expression of congenital Shoc2 variants induces AKT-dependent feedback activation of the ERK1/2 pathway
- The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy
- The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma
- The RRAS2 pathogenic variant (c.67G>T; p. Gly23Cys) produces Noonan syndrome with embryonal rhabdomyosarcoma