Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.

The Journal of pediatrics - 1 Dec 2011

Lee Beom Hee, Kim Jae-Min, Jin Hye Young, Kim Gu-Hwan, Choi Jin-Ho, Yoo Han-Wook

Abstract excerpt

OBJECTIVES: To investigate mutation spectrums and their correlations to phenotypes in Noonan syndrome (NS) and NS-related disorders that share functional alterations of the Ras-mitogen-activated protein kinase pathway. STUDY DESIGN: Clinical characteristics and genotypes of 10 previously known and 2 candidate genes, SPRY1-4 and SPRED1, were investigated in 59 patients with NS, 17 with cardiofaciocutaneous...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diagnosis, Differential

Share to Infant

Share to Molecular Diagnostic Techniques

Share to Noonan Syndrome

Share to Young Adult

Source

Identifiers

PMID: 21784453
DOI: 10.1016/j.jpeds.2011.05.024

Genes

RAF1
BRAF
SOS1
PTPN11
HRAS
KRAS
SPRED1
SPRY1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Spectrum of mutations in Noonan syndrome and their correlation with phenotypes.PMID 21784453Read ↗

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.Semantic proximity Read ↗

Ras/MAPK syndromes and childhood hemato-oncological diseases.Semantic proximity Read ↗

Co-occurring SHOC2 and PTPN11 mutations in a patient with severe/complex Noonan syndrome-like phenotype.Semantic proximity Read ↗

Mutation analysis of the genes involved in the Ras-mitogen-activated protein kinase (MAPK) pathway in Korean patients with Noonan syndrome.Semantic proximity Read ↗

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: molecular diversity and associated phenotypic spectrum.Semantic proximity Read ↗

PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes.Semantic proximity Read ↗

Non-RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome.Semantic proximity Read ↗

Noonan and cardio-facio-cutaneous syndromes: two clinically and genetically overlapping disordersSemantic proximity Read ↗

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.Semantic proximity Read ↗

Co-occurring PTPN11 and SOS1 gene mutations in Noonan syndrome: does this predict a more severe phenotype?Semantic proximity Read ↗

Genetic and pathogenetic aspects of Noonan syndrome and related disorders.Semantic proximity Read ↗

Mutation and Phenotypic Spectrum of Patients With RASopathies.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.