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Article

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy.

European journal of medical genetics - 1 Jan 2000

Limongelli Giuseppe, Hawkes Lorraine, Calabro Raffaele, McKenna William J, Syrris Petros

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disease and a major cause of sudden death. It is an autosomal dominant disorder predominantly caused by mutations in genes encoding for sarcomeric proteins. Only 50-60% of HCM probands have mutations in known genes suggesting the pre...

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Share to Cardiomyopathy, Hypertrophic, Familial
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Share to DNA Mutational Analysis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Intracellular Signaling Peptides and Proteins

Share to Polymorphism, Genetic

Share to Protein Tyrosine Phosphatase, Non-Receptor Type 11

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Source

Identifiers

PMID: 16488201
DOI: 10.1016/j.ejmg.2006.01.003

Genes

PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16488201-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

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Research trail→

Click a neighbor to travelStep 1 · 11 closest

Mutation screening of the PTPN11 gene in hypertrophic cardiomyopathy.PMID 16488201Read ↗

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

Combined PTPN11 and MYBPC3 Gene Mutations in an Adult Patient with Noonan Syndrome and Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations.Semantic proximity Read ↗

PTPN11 mutations play a minor role in isolated congenital heart disease.Semantic proximity Read ↗

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

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

The PTPN11 loss-of-function mutation Q510E-Shp2 causes hypertrophic cardiomyopathy by dysregulating mTOR signaling.Semantic proximity Read ↗

PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome.Semantic proximity Read ↗

PTPN11 gene mutation and severe neonatal hypertrophic cardiomyopathy: what is the link?Semantic proximity Read ↗

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome.Semantic proximity Read ↗

Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11.Semantic proximity Read ↗

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