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

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

Wide Ranging Neurobehavioral Phenotype in Individuals With Costello Syndrome.

Current opinions on Noonan syndrome and RASopathies.

Orbital Rhabdomyosarcoma in a Pediatric Patient With Costello Syndrome.

Langerhans Cell Histiocytosis in Cardiofaciocutaneous Syndrome.

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features.

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

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

RASopathies. Part II: Cutaneous and extracutaneous manifestations.

RASopathies. Part I: Genetics and therapeutic considerations.

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

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

Pericapsular hip chemical denervation with phenol: A case report suggesting the interest of this new tool in rehabilitation medicine.

Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen.

Costello Syndrome Complicated by Midventricular Obstruction With an Apical Aneurysm.

An Unusual Presentation of Costello Syndrome in a Boy with Precocious Puberty and Chiari I Malformation: A Case Report.

Impaired MC3T3-E1 osteoblast differentiation triggered by oncogenic HRAS is rescued by the farnesyltransferase inhibitor Tipifarnib.

A Drosophila model for Costello Syndrome caused by Ras mutation K117R.

Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways.

Antenatal diagnosis of lethal Costello syndrome: how fetal exome sequencing using NHS England's R21 pathway accelerated the diagnosis of non-immune hydrops and improved patient experience.

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

Novel use of trametinib for treatment of atrial arrhythmia in absence of cardiomyopathy in a patient with Costello syndrome.

Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.

[Diagnostic and therapeutic perspectives in RASopathies].

RASopathies in Cardiac Disease.

Case report: MEK inhibitor as treatment for multi-lineage mosaic KRAS G12D-associated epidermal nevus syndrome in a pediatric patient.

Facial and anogenital papillomas in Costello syndrome - human papilloma virus or just hyperproliferation?

Biomarker Landscape in RASopathies.

Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies.

Somatic HRAS p.G12S mutation causes mosaic Costello syndrome with special cutaneous manifestations.

Dysplastic Mitral Valve in Costello Syndrome.

The Surgical Management of Severe Scoliosis in Immature Patient with a Very Rare Disease Costello Syndrome-Clinical Example and Brief Literature Review.

Dermoscopic Features of Melanocytic Nevi in Cardiofaciocutaneous and Costello Syndromes.

Human Genetics of Semilunar Valve and Aortic Arch Anomalies.

Human Genetics of Ventricular Septal Defect.

Adult syndromology: challenges, opportunities and perspectives: Illustrated by the description of four adults with Costello syndrome.

RASopathies - what they reveal about RAS/MAPK signaling in skeletal muscle development.

Concurrent rhabdomyosarcoma and neuroblastoma in an infant with Costello syndrome.

RASopathies for Radiologists.

Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.

Autism spectrum disorder profiles in RASopathies: A systematic review.

MEK Inhibition for RASopathy-Associated Hypertrophic Cardiomyopathy: Clinical Application of a Basic Concept.

HRAS-Mutant Cardiomyocyte Model of Multifocal Atrial Tachycardia.

Natural history and outcomes in paediatric RASopathy-associated hypertrophic cardiomyopathy.

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.

Artificial Intelligence Procedure for the Screening of Genetic Syndromes Based on Voice Characteristics.

Torpedo maculopathy in Costello syndrome.

The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy.

RASopathies and spinal deformities for screening of scoliosis.

Diagnosis, treatment planning, and comprehensive restoration of a patient with Costello syndrome: rationale and application of indirect composite resin onlays.

Genotypic Findings in Noonan and Non-Noonan RASopathies and Patient Eligibility for Growth Hormone Treatment.

RASopathies and cardiac manifestations.

Concurrent Presentation of Euryblepharon and Moyamoya Syndrome in Costello Syndrome: A Rare Clinical Case.

Fatal leukodystrophy in Costello syndrome: a case report.

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.

Syndromic forms of congenital hyperinsulinism.

Papillomas of Costello syndrome are not associated with human papillomavirus infection in a small case series.

MEK Inhibition Improves Cardiomyopathy in Costello Syndrome.

Cancer in Costello syndrome: a systematic review and meta-analysis.

An Unusual Presentation of Cardiofaciocutaneous Syndrome Diagnosed Through Whole Genome Sequencing: A Case Report.

Diverse Clinical Manifestations of Cardiofaciocutaneous Syndrome Type 3 in Two Patients from South East Asia.

How common are ear, nose and throat disorders in children with Noonan syndrome and other RASopathies?

Dermatological manifestations, management, and care in RASopathies.

Cancer incidence and surveillance strategies in individuals with RASopathies.

New prospectives on treatment opportunities in RASopathies.

Vascular malformation rupture in a patient affected by Costello syndrome.

Management of nutritional and gastrointestinal issues in RASopathies: A narrative review.

Bone health in RASopathies.

Central nervous system involvement in individuals with RASopathies.

Clinical overview on RASopathies.

The heart in RASopathies.

Increased osteoclastogenesis contributes to bone loss in the Costello syndrome Hras G12V mouse model.

RASopathy Cohort of Patients Enrolled in a Brazilian Reference Center for Rare Diseases: A Novel Familial LZTR1 Variant and Recurrent Mutations.

Costello syndrome-associated orthopaedic manifestations focussed on kyphoscoliosis: a case series describing the natural course.

Cutaneous manifestations in Costello syndrome: HRAS p.Gly12Ser affects RIN1-mediated integrin trafficking in immortalized epidermal keratinocytes.

Prevalence of gastrointestinal disorders in individuals with RASopathies: May RAS/MAP/ERK pathway dysfunctions be a model of neuropathic pain and visceral hypersensitivity?

Refining nosology by modelling variation among facial phenotypes: the RASopathies.

A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome.

Rapid Weight Loss and Severe Failure to Thrive Mimicking Lipodystrophy Syndrome in a 1-Year-Old Taiwanese Girl with Costello Syndrome.

Surgical techniques for infectious endocarditis of the mitral valve with hypertrophic cardiomyopathy in Costello syndrome.

Multidisciplinary Management of Costello Syndrome: Current Perspectives.

The Clinical Landscape of NRAS- mutated Juvenile Myelomonocytic Leukemia-like Myeloproliferation Includes Children With Costello Syndrome.

Mitochondria and the future of RASopathies: the emergence of bioenergetics.

Diagnostic yield using whole-genome sequencing and in-silico panel of 281 genes associated with non-immune hydrops fetalis in clinical setting.

The seventh international RASopathies symposium: Pathways to a cure-expanding knowledge, enhancing research, and therapeutic discovery.

A case of Costello syndrome diagnosed by trio whole exome sequencing.

HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models.

Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.

Severe hyponatremia in a neonate with Costello syndrome and CoA during PGE1 infusion.

The RASopathies: from pathogenetics to therapeutics.

An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.

RASopathies: Dermatologists' viewpoints.

Metabolic profiling of Costello syndrome: Insights from a single-center cohort.

The RASopathies: Biology, genetics and therapeutic options.

[A case of Costello syndrome diagnosed by extremely rapid whole genome sequencing].

Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision-making.

Social behavior in RASopathies and idiopathic autism.

Craniosynostosis is a feature of Costello syndrome.

Eyelash trichomegaly: a systematic review of acquired and congenital aetiologies of lengthened lashes.

Bone tissue homeostasis and risk of fractures in Costello syndrome: A 4-year follow-up study.

Clinical and molecular characterization of Costello syndrome in unrelated Mexican patients.

Idiopathic polyhydramnios and foetal macrosomia in the absence of maternal diabetes: clinical vigilance for costello syndrome.

Duplications in the G3 domain or switch II region in HRAS identified in patients with Costello syndrome.

Ophthalmic manifestations in Costello syndrome caused by Ras pathway dysregulation during development.

Woolly hair nevus caused by somatic mutation and Costello syndrome caused by germline mutation in HRAS: Consider parental mosaicism in prenatal counseling.

MEK-inhibitor-mediated rescue of skeletal myopathy caused by activating Hras mutation in a Costello syndrome mouse model.

Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.

Molecules linked to Ras signaling as therapeutic targets in cardiac pathologies.

Dysregulated ECM remodeling proteins lead to aberrant osteogenesis of Costello syndrome iPSCs.

Expanding the clinical phenotype of RASopathies in 38 Turkish patients, including the rare LZTR1, RAF1, RIT1 variants, and large deletion in NF1.

RASopathies: The musculoskeletal consequences and their etiology and pathogenesis.

Anterior lenticular opacities in Costello Syndrome.

Studying Metabolic Abnormalities in the Costello Syndrome HRAS G12V Mouse Model: Isolation of Mouse Embryonic Fibroblasts and Their In Vitro Adipocyte Differentiation.

Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review.

A Patient with Noonan Syndrome with a KRAS Mutation Who Presented Severe Nerve Root Hypertrophy.

Myriad of pigmented lesions in a patient with Costello syndrome.

Musculo-skeletal phenotype of Costello syndrome and cardio-facio-cutaneous syndrome: insights on the functional assessment status.

Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group.

Senescence in RASopathies, a possible novel contributor to a complex pathophenoype.

Hyperinsulinemic Hypoglycemia in a Patient with Costello Syndrome: An Etiology to Consider in Hypoglycemia.

Germline predisposition to genitourinary rhabdomyosarcoma.

RASopathies: A significant cause of polyhydramnios?

Recombinant GH treatment in a case of Costello syndrome with a 5-year follow-up.

Impact of Costello syndrome on growth patterns.

Costello syndrome model mice with a HrasG12S/+ mutation are susceptible to develop house dust mite-induced atopic dermatitis.

Stress and Coping in Caregivers of Children with RASopathies: Assessment of the Impact of Caregiver Conferences.

Development of Noonan syndrome by deregulation of allosteric SOS autoactivation.

De novo HRAS gene mutation associated with Costello syndrome identified by non-invasive cell-free fetal DNA screening.

Treatment of Dystonia Using Trihexyphenidyl in Costello Syndrome.

The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects.

[Noonan syndrome: genetic and clinical update and treatment options].

Syndromes with gingival fibromatosis: A systematic review.

Germline and sporadic cancers driven by the RAS pathway: parallels and contrasts.

RAS pathway influences the number of melanocytic nevi in cardiofaciocutaneous and Costello syndromes.

Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.

Cardiac manifestations and gene mutations of patients with RASopathies in Taiwan.

The sixth international RASopathies symposium: Precision medicine-From promise to practice.

miRNA Genetic Variants Alter Their Secondary Structure and Expression in Patients With RASopathies Syndromes.

[A pathogenic variation of HRAS gene causing Costello syndrome: a Ras/MAPK pathway syndrome].

The impact of RASopathy-associated mutations on CNS development in mice and humans.

Comparison of hair manifestations in cardio-facio-cutaneous and Costello syndromes highlights the influence of the RAS pathway on hair growth.

NRAS associated RASopathy and embryonal rhabdomyosarcoma.

Medically actionable comorbidities in adults with Costello syndrome.

Precocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome.

Clinical and molecular characterization of children with Noonan syndrome and other RASopathies in Argentina.

Phenotypic and Genetic Characteristics of Five Korean Patients with Costello Syndrome.

Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.

Neurodevelopmental Aspects of RASopathies.

Costello syndrome: Clinical phenotype, genotype, and management guidelines.

RASopathy in Patients With Isolated Sagittal Synostosis.

Severe Noonan syndrome phenotype associated with a germline Q71R MRAS variant: a recurrent substitution in RAS homologs in various cancers.

Pathogenesis of Growth Failure in Rasopathies.

Clinical Manifestations of Noonan Syndrome and Related Disorders.

Functional robustness of adult spermatogonial stem cells after induction of hyperactive Hras.

Melorheostosis and Osteopoikilosis: A Review of Clinical Features and Pathogenesis.

Fetal Costello syndrome: description of phenotype of HRAS exon 1 mutations.

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

Genetic landscape of RASopathies in Chinese: Three decades' experience in Hong Kong.

Use of whole exome sequencing in the NICU: Case of an extremely low birth weight infant with syndromic features.

Pain in individuals with RASopathies: Prevalence and clinical characterization in a sample of 80 affected patients.

Anesthetic Management in an Adult Patient With Costello Syndrome: A Case Report.

Fetal edema, not overgrowth, is associated with neonatal lethal Costello syndrome due to the HRAS p.Gly12Val mutation.

[New insight of craniofacial and oral findings of the RASopathies].

Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

Assessing the gene-disease association of 19 genes with the RASopathies using the ClinGen gene curation framework.

Proceedings of the fifth international RASopathies symposium: When development and cancer intersect.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation-positive patients.

Nonreentrant atrial tachycardia occurs independently of hypertrophic cardiomyopathy in RASopathy patients.

Concurrent somatic KRAS mutation and germline 10q22.3-q23.2 deletion in a patient with juvenile myelomonocytic leukemia, developmental delay, and multiple malformations: a case report.

Deep Palmar and Plantar Creases in Costello Syndrome.

The RASopathy Family: Consequences of Germline Activation of the RAS/MAPK Pathway.

When and why is surgical revascularization indicated for the treatment of moyamoya syndrome in patients with RASopathies? A systematic review of the literature and a single institute experience.

RAS signalling in energy metabolism and rare human diseases.

Encephalocraniocutaneous Lipomatosis.

RASopathies are associated with a distinct personality profile.

Age and ASD symptoms in Costello syndrome.

Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results.

Clinical Presentation and Natural History of Hypertrophic Cardiomyopathy in RASopathies.

Integrating Functional Analysis in the Next-Generation Sequencing Diagnostic Pipeline of RASopathies.

Mice with an Oncogenic HRAS Mutation are Resistant to High-Fat Diet-Induced Obesity and Exhibit Impaired Hepatic Energy Homeostasis.

Costello Syndrome: The Challenge of Hypoglycemia and Failure to Thrive.

FOXI2: a possible gene contributing to ectodermal dysplasia.

Oligodendrocyte RasG12V expressed in its endogenous locus disrupts myelin structure through increased MAPK, nitric oxide, and notch signaling.

Craniosynostosis in patients with RASopathies: Accumulating clinical evidence for expanding the phenotype.

A review of craniofacial and dental findings of the RASopathies.

Recommendations for Cancer Surveillance in Individuals with RASopathies and Other Rare Genetic Conditions with Increased Cancer Risk.

Genotype and phenotype spectrum of NRAS germline variants.

[Update on the treatment of RASopathies].

A comparison of the functional health of children with Costello syndrome in 1999 and in 2015.

Mechanisms underlying cognitive deficits in a mouse model for Costello Syndrome are distinct from other RASopathy mouse models.

Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.

Cytotoxicity of Zardaverine in Embryonal Rhabdomyosarcoma from a Costello Syndrome Patient.

A case of splenomegaly in CBL syndrome.

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome.

Phenotypic spectrum of Costello syndrome individuals harboring the rare HRAS mutation p.Gly13Asp.