• A case of splenomegaly in CBL syndrome
• A case report of Noonan syndrome-like disorder with loose anagen hair 2 treated with recombinant human growth hormone
• A Leucine-Rich Repeat Protein Provides a SHOC2 the RAS Circuit: a Structure-Function Perspective
• A Noonan-like pediatric patient with a de novo CBL pathogenic variant and an RNF213 polymorphism p.R4810K presenting with cardiopulmonary arrest due to left main coronary artery ostial atresia
• 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 SHOC2 Variant in Rasopathy
• A very mild phenotype in six individuals of a three-generation family with the novel HRAS variant c.176C &gt; G p.(Ala59Gly): Emergence of a new HRAS-related RASopathy distinct from Costello syndrome
• Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome
• Aplasia cutis congenita in a CDC42-related developmental phenotype
• Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework
• Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2
• Behavioral profile in RASopathies
• Bilateral giant cell central granuloma of the jaws in a Noonan syndrome: About one case with emphasizing on bone giant cell lesions of the jaws
• Case report: A <em>de novo</em> RASopathy-causing <em>SHOC2</em> variant in a Chinese girl with noonan syndrome-like with loose anagen hair
• Case report: Gastroenterological management in a case of cardio-facio-cutaneous syndrome
• Case Report: Molecular autopsy underlie COVID-19-associated sudden, unexplained child mortality
• Case report: Noonan-like multiple central giant cell granuloma syndrome
• Case Report: Safety and Efficacy of Denosumab in Four Children With Noonan Syndrome With Multiple Giant Cell Lesions of the Jaw
• Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1
• Clinical features, genetic detection and therapeutic response to rhGH of children with Noonan syndrome: an analysis of 12 cases
• Clinical Heterogeneity in two patients with Noonan-like Syndrome associated with the same SHOC2 mutation
• Clinical overview on RASopathies
• Co-Occurring Thrombotic Thrombocytopenic Purpura and Autoimmune Hemolytic Anemia in a Child Carrying the Pathogenic SHOC2 c.4A&gt;G (p.Ser2Gly) Variant
• Coarctation of the aorta in Noonan-like syndrome with loose anagen hair
• Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype
• Cutaneous T-cell lymphoma in SHOC2 mutation-associated Noonan-like syndrome with loose anagen hair
• Cutis verticis gyrata and Noonan syndrome: report of two cases with pathogenetic variant in SOS1 gene
• Cytokine profile and brain biopsy in a case of childhood-onset central nervous system vasculitis in Noonan syndrome-like disorder due to a novel CBL variant
• De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy
• Dermatological manifestations, management, and care in RASopathies
• Desmoglein-1/Erbin interaction suppresses ERK activation to support epidermal differentiation
• Diagnosis of Noonan syndrome and related disorders using target next generation sequencing
• Differential Diagnosis of the Short IGF-I-Deficient Child with Apparently Normal Growth Hormone Secretion
• Efficacy and safety of growth hormone therapy in children with Noonan syndrome
• Epilepsy in a cohort of children with Noonan syndrome and related disorders
• Epileptic spasms in PPP1CB-associated Noonan-like syndrome: a case report with clinical and therapeutic implications
• Establishment of an induced pluripotent stem cell line from a Noonan syndrome patient with the heterozygote mutation p.S257L (c.770C &gt; T) in RAF1 gene
• Etiology and Treatment of Growth Delay in Noonan Syndrome
• Floating-Harbor Syndrome in a Korean Patient with Short Stature and Early Puberty: A Case Report
• Generation of a Mouse Model to Study the Noonan Syndrome Gene <em>Lztr1</em> in the Telencephalon
• Genetic Characterization of Short Stature Patients With Overlapping Features of Growth Hormone Insensitivity Syndromes
• Germline CBL mutation associated with a noonan-like syndrome with primary lymphedema and teratoma associated with acquired uniparental isodisomy of chromosome 11q23
• Germline selection of PTPN11 (HGNC:9644) variants make a major contribution to both Noonan syndrome's high birth rate and the transmission of sporadic cancer variants resulting in fetal abnormality
• GH Responsiveness in Children With Noonan Syndrome Compared to Turner Syndrome
• GH Therapy and first final height data in Noonan-like syndrome with loose anagen hair (Mazzanti syndrome)
• Giant osteolytic lesions of the mandible in children
• Growth standards of patients with Noonan and Noonan-like syndromes with mutations in the RAS/MAPK pathway
• Helsmoortel-Van der Aa Syndrome-Cardiothoracic and Ectodermal Manifestations in Two Patients as Further Support of a Previous Observation on Phenotypic Overlap with RASopathies
• Hematopoietic and neural crest defects in zebrafish shoc2 mutants: a novel vertebrate model for Noonan-like syndrome
• High energy expenditure in a patient with feeding problems and Noonan syndrome spectrum disorder
• Human Genetics of Ventricular Septal Defect
• Hydrops fetalis in a preterm newborn heterozygous for the c.4A&gt;G SHOC2 mutation
• Immune-Mediated Mechanisms in Patients Testing Positive for SARS-CoV-2: Protocol for a Multianalysis Study
• Improved growth velocity of a patient with Noonan-like syndrome with loose anagen hair (NS/LAH) without growth hormone deficiency by low-dose growth hormone therapy
• Improvement of synaptic plasticity and cognitive function in RASopathies-a monocentre, randomized, double-blind, parallel-group, placebo-controlled, cross-over clinical trial (SynCoRAS)
• Inflammatory response in hematopoietic stem and progenitor cells triggered by activating SHP2 mutations evokes blood defects
• Inside the Noonan "universe": Literature review on growth, GH/IGF axis and rhGH treatment: Facts and concerns
• Late moyamoya-like angiopathy syndrome revealing MAP2K1 Noonan syndrome
• Low bone mass in Noonan syndrome children correlates with decreased muscle mass and low IGF-1 levels
• LZTR1: A promising adaptor of the CUL3 family
• M-type phospholipase A2 receptor-associated membranous nephropathy in a patient with Noonan-like syndrome with loose anagen hair
• Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients
• Molecules linked to Ras signaling as therapeutic targets in cardiac pathologies
• Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review
• Moyamoya disease in two patients with Noonan-like syndrome with loose anagen hair
• Moyamoya syndrome in a patient with Noonan-like syndrome with loose anagen hair
• Multifocal Central Giant Cell Granuloma - A Case Report
• Mutation and Phenotypic Spectrum of Patients With RASopathies
• Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy
• Noonan syndrome - a new survey
• Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up
• Noonan syndrome-like disorder with loose anagen hair: a second case with neuroblastoma
• Noonan syndrome-like phenotype in a patient with heterozygous ERF truncating variant
• Noonan syndrome: comparing mutation-positive with mutation-negative dutch patients
• Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia
• Phenotypic variability associated with the invariant SHOC2 c.4A&gt;G (p.Ser2Gly) missense mutation
• Prenatal choline, cannabis, and infection, and their association with offspring development of attention and social problems through 4 years of age
• Primary Pleomorphic Omental Rhabdomyosarcoma in an Adult: A Report of a Unique Case
• PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain
• Rare copy number variations containing genes involved in RASopathies: deletion of SHOC2 and duplication of PTPN11
• Ras/MAPK syndromes and childhood hemato-oncological diseases
• Recent advances in RASopathies
• Selectivity Determinants of RHO GTPase Binding to IQGAPs
• Shoc2 controls ERK1/2-driven neural crest development by balancing components of the extracellular matrix
• SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling
• Short Stature Syndromes: Case Series from India
• Somatic variation as an incidental finding in the pediatric next-generation sequencing era
• SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
• Success and Pitfalls of Genetic Testing in Undiagnosed Diseases: Whole Exome Sequencing and Beyond
• Sudden cardiac death in childhood hypertrophic cardiomyopathy is best predicted by a combination of electrocardiogram risk-score and HCMRisk-Kids score
• The expression of congenital Shoc2 variants induces AKT-dependent crosstalk activation of the ERK1/2 pathway
• The most important problems and needs of rasopathy patients with a noonan syndrome spectrum disorder
• The RASopathies: Biology, genetics and therapeutic options
• The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway
• The recurrent PPP1CB mutation p.Pro49Arg in an additional Noonan-like syndrome individual: Broadening the clinical phenotype
• The role of USP7 in the Shoc2-ERK1/2 signaling axis and Noonan-like syndrome with loose anagen hair
• Two Japanese patients with Noonan syndrome-like disorder with loose anagen hair 2
• Unilateral giant cell lesion of the jaw in Noonan syndrome
• Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar