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

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.

Genes, chromosomes & cancer - 1 Mar 2010

Denayer Ellen, Devriendt Koen, de Ravel Thomy, Van Buggenhout Griet, Smeets Eric, Francois Inge, Sznajer Yves, Craen Margarita, Leventopoulos George, Mutesa Léon, Vandecasseye Willy, Massa Guy, Kayserili Hulya, Sciot Raf, Fryns Jean-Pierre, Legius Eric

Abstract excerpt

Noonan syndrome (NS) is an autosomal dominant disorder caused by mutations in PTPN11, KRAS, SOS1, and RAF1. We performed SOS1, RAF1, BRAF, MEK1, and MEK2 mutation analysis in a cohort of 102 PTPN11- and KRAS-negative NS patients and found pathogenic SOS1 mutations in 10, RAF1 mutations in 4, and...

Read the complete abstract on PubMed

Topics

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

Share to Gene Duplication
Share to Leukocytes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to MAP Kinase Kinase 1

Share to MAP Kinase Kinase 2

Share to Noonan Syndrome

Share to Oligonucleotide Array Sequence Analysis

Share to Proto-Oncogene Proteins c-raf

Share to SOS1 Protein

Source

Identifiers

PMID: 19953625
DOI: 10.1002/gcc.20735

Genes

SOS1
RAF1
BRAF
KRAS
PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19953625-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Tumor spectrum in children with Noonan syndrome and SOS1 or RAF1 mutations.PMID 19953625Read ↗

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

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

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

New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.Semantic proximity Read ↗

<i>SOS1</i> is the second most common Noonan gene but plays no major role in cardio-facio-cutaneous syndromeSemantic proximity Read ↗

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

Variants of SOS2 are a rare cause of Noonan syndrome with particular predisposition for lymphatic complications.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 ↗

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.Semantic proximity Read ↗

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

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

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

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