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

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.

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

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

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

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

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

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

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

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

RASopathies. Part II: Cutaneous and extracutaneous manifestations.

RASopathies. Part I: Genetics and therapeutic considerations.

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

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

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

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

Orbital and Lumbosacral Plexiform Neurofibroma with PTPN11 Mutation: A Form of the RASopathy.

Atypical left-ventricular hypertrophy with apical aneurysm in leopard syndrome.

SHP2 as a primordial epigenetic enzyme expunges histone H3 pTyr-54 to amend androgen receptor homeostasis.

Paternally Inherited Noonan Syndrome Caused by a PTPN11 Variant May Exhibit Mild Symptoms: A Case Report and Literature Review.

A novel variant in PTPN11, c.1277A>G p.(His426Arg), in a patient with Noonan syndrome with multiple lentigines.

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

Coexisting PTPN11 and TNNT2 mutations in noonan syndrome with multiple lentigines.

[Translated article] Noonan Syndrome With Multiple Lentigines.

Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family.

Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines.

Lessons From a Genotype-Phenotype Study About the Clinical Spectrum of Hypertrophic Cardiomyopathy Associated With Noonan Syndrome With Multiple Lentigines and PTPN11-Mutations.

A rare mutation in a patient with Noonan syndrome with multiple lentigines.

Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines.

Dermatological manifestations, management, and care in RASopathies.

New prospectives on treatment opportunities in RASopathies.

Clinical overview on RASopathies.

The heart in RASopathies.

Modeling (not so) rare developmental disorders associated with mutations in the protein-tyrosine phosphatase SHP2.

Effects of Noonan Syndrome-Germline Mutations on Mitochondria and Energy Metabolism.

Cognitive Phenotype and Psychopathology in Noonan Syndrome Spectrum Disorders through Various Ras/MAPK Pathway Associated Gene Variants.

Epilepsy in a cohort of children with Noonan syndrome and related disorders.

Targeting SHP2 phosphatase in hematological malignancies.

Cochlear Implantation in Noonan Syndrome With and Without Multiple Lentigines: A Case Report and Systematic Review.

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

RASopathies: Dermatologists' viewpoints.

The RASopathies: Biology, genetics and therapeutic options.

Natural history of left ventricular hypertrophy in infants of diabetic mothers.

Discriminating between competing models for the allosteric regulation of oncogenic phosphatase SHP2 by characterizing its active state.

Dermatologic manifestations of pediatric cardiovascular diseases: Skin as a reflection of the heart.

OPTIC DISK COLOBOMA AND CONTRALATERAL OPTIC DISK PIT MACULOPATHY TREATED BY VITRECTOMY IN A PATIENT WITH NOONAN SYNDROME WITH MULTIPLE LENTIGINES.

Noonan Syndrome with Multiple Lentigines and PTPN11 Mutation: A Case with Intracerebral Hemorrhage.

Low-dose Dasatinib Ameliorates Hypertrophic Cardiomyopathy in Noonan Syndrome with Multiple Lentigines.

Noonan Syndrome With Multiple Lentigines: Subtle Key Skin Clues to the Diagnosis.

Compound heterozygosity for PTPN11 variants in a subject with Noonan syndrome provides insights into the mechanism of SHP2-related disorders.

Genotype-phenotype association by echocardiography offers incremental value in patients with Noonan Syndrome with Multiple Lentigines.

Phase Separation of Disease-Associated SHP2 Mutants Underlies MAPK Hyperactivation.

Targeting a Pathogenic Cysteine Mutation: Discovery of a Specific Inhibitor of Y279C SHP2.

Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms.

Tyrosyl phosphorylation of PZR promotes hypertrophic cardiomyopathy in PTPN11-associated Noonan syndrome with multiple lentigines.

Melanoma in Noonan Syndrome With Multiple Lentigines (Leopard Syndrome): A New Case.

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

Legius Syndrome and its Relationship with Neurofibromatosis Type 1.

Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.

Café au Lait Macules and Associated Genetic Syndromes.

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

[Case report and diagnosis of Noonan syndrome with multiple lentigines with deafness as its main clinical feature].

Pediatric patients with RASopathy-associated hypertrophic cardiomyopathy: the multifaceted consequences of PTPN11 mutations.

Investigating the reason for loss-of-function of Src homology 2 domain-containing protein tyrosine phosphatase 2 (SHP2) caused by Y279C mutation through molecular dynamics simulation.

Noonan syndrome with multiple lentigines and prominent keratosis pilaris.

Out-of-hospital cardiac arrest and survival in a patient with Noonan syndrome and multiple lentigines: a case report.

RAF1 variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis.

Pathogenesis of Growth Failure in Rasopathies.

Clinical Manifestations of Noonan Syndrome and Related Disorders.

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.

Generation of an induced pluripotent stem cell line (TRNDi003-A) from a Noonan syndrome with multiple lentigines (NSML) patient carrying a p.Q510P mutation in the PTPN11 gene.

Widespread keratosis pilaris in a patient with Noonan syndrome with multiple lentigines.

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

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

RAS signalling in energy metabolism and rare human diseases.

Gain-of-function mutations in the gene encoding the tyrosine phosphatase SHP2 induce hydrocephalus in a catalytically dependent manner.

Patient with confirmed LEOPARD syndrome developing multiple melanoma.

Neurocutaneous Disorders.

Noonan syndrome with multiple lentigines and associated craniosynostosis.

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.

Heterozygous deletion of AKT1 rescues cardiac contractility, but not hypertrophy, in a mouse model of Noonan Syndrome with Multiple Lentigines.

Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor.

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

A review of craniofacial and dental findings of the RASopathies.

In vivo efficacy of the AKT inhibitor ARQ 092 in Noonan Syndrome with multiple lentigines-associated hypertrophic cardiomyopathy.

Cochlear implantation and clinical features in patients with Noonan syndrome and Noonan syndrome with multiple lentigines caused by a mutation in PTPN11.

Multiple spinal nerve enlargement and SOS1 mutation: Further evidence of overlap between neurofibromatosis type 1 and Noonan phenotype.

Modeling RASopathies with Genetically Modified Mouse Models.

Molecular screening strategies for NF1-like syndromes with café-au-lait macules (Review).

Choroidal abnormalities in café-au-lait syndromes: a new differential diagnostic tool?

Cardiac Manifestations and Associations with Gene Mutations in Patients Diagnosed with RASopathies.

RASopathies: Presentation at the Genome, Interactome, and Phenome Levels.

Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines.

Cell type-specific roles of RAS-MAPK signaling in learning and memory: Implications in neurodevelopmental disorders.

Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.

The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway.

Hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

Recent advances in RASopathies.

Cardiomyopathies in Noonan syndrome and the other RASopathies.

Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy.

SHP2 sails from physiology to pathology.

Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

Elevated Ca2+ transients and increased myofibrillar power generation cause cardiac hypercontractility in a model of Noonan syndrome with multiple lentigines.

Rapidly progressive hypertrophic cardiomyopathy in an infant with Noonan syndrome with multiple lentigines: palliative treatment with a rapamycin analog.

Malignancy in Noonan syndrome and related disorders.