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

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

Journal of human genetics - 1 Jan 2008

Ko Jung Min, Kim Jae-Min, Kim Gu-Hwan, Yoo Han-Wook

Abstract excerpt

After 2006, germline mutations in the KRAS, SOS1, and RAF1 genes were reported to cause Noonan syndrome (NS), in addition to the PTPN11 gene, and now we can find the etiology of disease in approximately 60-70% of NS cases. The aim of this study was to assess the correlation between phenotype and...

Read the complete abstract on PubMed

Topics

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

Share to Korea
Share to Noonan Syndrome
Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Proto-Oncogene Proteins

Share to Proto-Oncogene Proteins c-raf

Share to Proto-Oncogene Proteins p21(ras)

Share to ras Proteins

Share to SOS1 Protein

Source

Identifiers

PMID: 19020799
DOI: 10.1007/s10038-008-0343-6

Genes

PTPN11
RAF1
SOS1
KRAS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-19020799-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype-phenotype correlation in Korean patients with Noonan syndrome.PMID 19020799Read ↗

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

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

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

Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.Semantic proximity Read ↗

[SOS1 mutation: a new cause of Noonan syndrome].Semantic proximity Read ↗

Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.Semantic proximity Read ↗

Noonan syndrome associated with both a new Jnk-activating familial SOS1 and a de novo RAF1 mutations.Semantic proximity Read ↗

[Clinical practice guidelines for Noonan syndrome].Semantic proximity Read ↗

Molecular and Clinical Profile of patients referred as Noonan or Noonan-like Syndrome in Greece: a cohort of 86 patientsSemantic proximity Read ↗

Two cases of Noonan syndrome with severe respiratory and gastroenteral involvement and the SOS1 mutation F623I.Semantic proximity Read ↗

Differential allelic expression of SOS1 and hyperexpression of the activating SOS1 c.755C variant in a Noonan syndrome family.Semantic proximity Read ↗

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