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

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

Advances in medical sciences - 1 Mar 2018

Tafazoli Alireza, Eshraghi Peyman, Pantaleoni Francesca, Vakili Rahim, Moghaddassian Morteza, Ghahraman Martha, Muto Valentina, Paolacci Stefano, Golyan Fatemeh Fardi, Abbaszadegan Mohammad Reza

Abstract excerpt

PURPOSE: Noonan Syndrome (NS) is an autosomal dominant disorder with many variable and heterogeneous conditions. The genetic basis for 20-30% of cases is still unknown. This study evaluates Iranian Noonan patients both clinically and genetically for the first time. MATERIALS/METHODS: Mutational analysis of PTPN11 gene was performed in 15 Iranian patients, using PCR and Sanger sequencing at phase one. Then, as...

Read the complete abstract on PubMed

Topics

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

Share to SOS1 gene
Share to Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

Share to Models, Molecular

Share to Mutation

Share to Noonan Syndrome

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Source

Identifiers

PMID: 28957739
DOI: 10.1016/j.advms.2017.07.001

Genes

SOS1
CBL
KRAS
PTPN11

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutations and their genotype-phenotype correlations in patients with Noonan syndrome, using next-generation sequencing.PMID 28957739Read ↗

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

New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.Semantic proximity Read ↗

New insights on Noonan syndrome’s clinical phenotype: a single center retrospective studySemantic proximity Read ↗

Spectrum of Mutations in PTPN11 in Russian Cohort.Semantic proximity Read ↗

Variants of the PTPN11 Gene in Mexican Patients with Noonan Syndrome.Semantic proximity Read ↗

Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.Semantic proximity Read ↗

Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.Semantic proximity Read ↗

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

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

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

Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.Semantic proximity Read ↗

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