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

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

Indian journal of pediatrics - 1 Jun 2016

Atik Tahir, Aykut Ayca, Hazan Filiz, Onay Huseyin, Goksen Damla, Darcan Sukran, Tukun Ajlan, Ozkinay Ferda

Abstract excerpt

OBJECTIVES: To evaluate the spectrum of PTPN11 gene mutations in Noonan syndrome patients and to study the genotype-phenotype associations. METHODS: In this study, twenty Noonan syndrome patients with PTPN11 mutations were included. The patients underwent a detailed clinical and physical evaluation. To identify inherited cases, parents of all mutation positive patients were analyzed. RESULTS: Thirteen different...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to PTPN11 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Genotype

Share to Mutation

Share to Noonan Syndrome

Share to Phenotype

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

Source

Identifiers

PMID: 26817465
DOI: 10.1007/s12098-015-1998-6

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation Spectrum and Phenotypic Features in Noonan Syndrome with PTPN11 Mutations: Definition of Two Novel Mutations.PMID 26817465Read ↗

Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype.Semantic proximity Read ↗

Phenotypic spectrum of 80 Greek patients referred as Noonan syndrome and PTPN11 mutation analysis: the value of initial clinical assessment.Semantic proximity Read ↗

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

PTPN11 mutations in Noonan syndrome: molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity.Semantic proximity Read ↗

Mutational analysis of the PTPN11 gene in Egyptian patients with Noonan syndrome.Semantic proximity Read ↗

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

Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two IndividualsSemantic proximity Read ↗

PTPN11 mutations and genotype-phenotype correlations in Noonan and LEOPARD syndromes.Semantic proximity Read ↗

Mutational analysis of PTPN11 gene in Taiwanese children with Noonan syndrome.Semantic proximity Read ↗

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

Genotype-phenotype correlations in Noonan syndrome.Semantic proximity Read ↗

Protein-tyrosine phosphatase, nonreceptor type 11 mutation analysis and clinical assessment in 45 patients with Noonan syndrome.Semantic proximity Read ↗

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