Disease: Noonan like syndrome
- 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 > 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
- Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies
- 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>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 > 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
- Hydrops fetalis in a preterm newborn heterozygous for the c.4A>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-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
- Noonan-like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations
- Paternal isodisomy of chromosome 5 in a patient with recessive multiple epiphyseal dysplasia
- Phenotypic variability associated with the invariant SHOC2 c.4A>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 is targeted to late endosomes and required for Erk1/2 activation in EGF-stimulated cells
- 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 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