The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
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PMS2 monoallelic mutation carriers: the known unknownThe genetic basis of Lynch syndrome and its implications for clinical practice and risk management.Agenesis of the corpus callosum and gray matter heterotopia in three patients with constitutional mismatch repair deficiency syndrome.Colorectal adenocarcinoma: a pediatric case review with a focus on mismatch repair gene mutations and E-cadherin expression.Follow-up recommendations and risk-reduction initiatives for Lynch syndrome.Lynch syndrome-associated neoplasms: a discussion on histopathology and immunohistochemistry.A 30-Year-Old Man with Three Primary Malignancies: A Case of Constitutional Mismatch Repair Deficiency.Lynch syndrome in the 21st century: clinical perspectives.Pathology and Genetics of Syndromic Gastric Polyps.Syndromic Gastric Polyps: At the Crossroads of Genetic and Environmental Cancer Predisposition.Multiple pilomatricomas with somatic CTNNB1 mutations in children with constitutive mismatch repair deficiency.Predictive genetic testing in children: constitutional mismatch repair deficiency cancer predisposing syndrome.Colorectal cancer in a 9-year-old due to combined EPCAM and MSH2 germline mutations: case report of a unique genotype and immunophenotype.The gastrointestinal manifestation of constitutional mismatch repair deficiency syndrome: from a single adenoma to polyposis-like phenotype and early onset cancer.Syndromes predisposing to pediatric central nervous system tumors: lessons learned and new promises.Oncologic surveillance for subjects with biallelic mismatch repair gene mutations: 10 year follow-up of a kindred.Constitutional mismatch repair deficiency and Lynch syndrome among consecutive Arab Bedouins with colorectal cancer in Israel.Guidelines on genetic evaluation and management of Lynch syndrome: a consensus statement by the US Multi-society Task Force on colorectal cancer.Constitutional Mismatch Repair Deficiency in Israel: High Proportion of Founder Mutations in MMR Genes and Consanguinity.Biallelic Mismatch Repair Deficiency in an Adolescent FemaleRole of video capsule endoscopy in patients with constitutional mismatch repair deficiency (CMMRD) syndrome: report from the International CMMRD Consortium
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The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 08 June 2010
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
@en
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
@nl
type
label
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
@en
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
@nl
prefLabel
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
@en
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
@nl
P2860
P356
P1476
The gastrointestinal phenotype of germline biallelic mismatch repair gene mutations.
@en
P2093
Carol A Durno
Spring Holter
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P304
P356
10.1038/AJG.2010.215
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P577
2010-06-08T00:00:00Z