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Article

[MYH associated polyposis: severe phenotype in the homozygosity for the 1103delC mutation].

Acta medica portuguesa - 1 Jan 2000

De Ferro Susana Mão, Lage Pedro, Suspiro Alexandra, Fidalgo Paulo, Fragoso Sofia, Baltazar Célia, Vitoriano Inês, Rodrigues Paula, Albuquerque Cristina, Leitão C Nobre

Abstract excerpt

MYH-associated polyposis (MAP) is an autosomal recessive disease associated with multiple colonic adenomas and colorectal cancer. Y165C and G382D MYH missense mutations are involved in more than 80% of cases in Caucasians and the large series published do not include patients homozygous for other...

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PMID: 17868535

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17868535-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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[MYH associated polyposis: severe phenotype in the homozygosity for the 1103delC mutation].PMID 17868535Read ↗

[Hyperplastic polyposis syndrome: phenotypic diversity and association to colorectal cancer].Semantic proximity Read ↗

MYH mutations in patients with attenuated and classic polyposis and with young-onset colorectal cancer without polyps.Semantic proximity Read ↗

Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis.Semantic proximity Read ↗

Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the <i>MYH</i> gene in Italian patients with adenomatous polyposis coli and colorectal adenomasSemantic proximity Read ↗

Germline MYH mutations in a clinic-based series of Canadian multiple colorectal adenoma patients.Semantic proximity Read ↗

Adenoma development in a patient with MUTYH-associated polyposis (MAP): new insights into the natural course of polyp development.Semantic proximity Read ↗

Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients.Semantic proximity Read ↗

Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with <i>MYH</i> associated polyposis coli (MAP)Semantic proximity Read ↗

MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype.Semantic proximity Read ↗

Biallelic germline mutations in MYH predispose to multiple colorectal adenoma and somatic G:C-->T:A mutations.Semantic proximity Read ↗

Colorectal Adenomatous Polyposis: Heterogeneity of Susceptibility Gene Mutations and Phenotypes in a Cohort of Italian Patients.Semantic proximity Read ↗

Colorectal adenomatous polyposis Associated with MYH mutations: genotype and phenotype characteristics.Semantic proximity Read ↗

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