Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists. (Q54363765)

28 May 2018

title

Unexplained polyposis: a challenge for geneticists, pathologists and gastroenterologists. (English)

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author name string

C Mongin

1

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28 May 2018

F Coulet

2

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C Colas

4

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M Svrcek

5

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M Eyries

6

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Y Lahely

7

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J-F Fléjou

8

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F Soubrier

9

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Y Parc

10

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publication date

4 May 2011

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28 May 2018

published in

Clinical Genetics

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28 May 2018

volume

81

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page(s)

38-46

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issue

1

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Familial adenomatous polyposis

cites work

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21 January 2018

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Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate

21 January 2018

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Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

21 January 2018

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A somatic mutation in the adenomatous polyposis coli (APC) gene in peripheral blood cells--implications for predictive diagnosis.

21 January 2018

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Mosaicism and sporadic familial adenomatous polyposis

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01676.X

Somatic APC mosaicism: an underestimated cause of polyposis coli.

21 January 2018

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https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01676.X

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01676.X

Inherited variants of MYH associated with somatic G:C-->T:A mutations in colorectal tumors

21 January 2018

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APC, MYH, and the correlation genotype-phenotype in colorectal polyposis

21 January 2018

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Implication of MYH in colorectal polyposis.

21 January 2018

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Hamartomatous polyposis syndromes.

21 January 2018

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Germline mutations in the TGF-beta and Wnt signalling pathways are a rare cause of the "multiple" adenoma phenotype

21 January 2018

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Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study

21 January 2018

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Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function

21 January 2018

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Hereditary mixed polyposis syndrome due to a BMPR1A mutation.

21 January 2018

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Germline bone morphogenesis protein receptor 1A mutation causes colorectal tumorigenesis in hereditary mixed polyposis syndrome.

21 January 2018

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Large intron 14 rearrangement in APC results in splice defect and attenuated FAP.

21 January 2018

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Intron 4 mutation in APC gene results in splice defect and attenuated FAP phenotype

21 January 2018

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Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death

21 January 2018

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An in-frame exon-skipping MUTYH mutation is associated with early-onset colorectal cancer

21 January 2018

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High-resolution melting analysis (HRMA): more than just sequence variant screening.

21 January 2018

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Increased frequency of disease-causing MYH mutations in colon cancer families.

21 January 2018

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Novel findings in Swedish patients with MYH-associated polyposis: mutation detection and clinical characterization.

21 January 2018

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Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis

21 January 2018

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Mutations in AXIN2 cause familial tooth agenesis and predispose to colorectal cancer

21 January 2018

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Mutated in colorectal cancer, a putative tumor suppressor for serrated colorectal cancer, selectively represses beta-catenin-dependent transcription

21 January 2018

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Germline epimutation of MLH1 in individuals with multiple cancers.

21 January 2018

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MicroRNA-122a functions as a novel tumor suppressor downstream of adenomatous polyposis coli in gastrointestinal cancers.

21 January 2018

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Multiple rare variants in different genes account for multifactorial inherited susceptibility to colorectal adenomas

21 January 2018

1 reference

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Polymorphisms in the adenomatous polyposis coli (APC) gene and advanced colorectal adenoma risk

21 January 2018

1 reference

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Molecular Classification of Patients With Unexplained Hamartomatous and Hyperplastic Polyposis

21 January 2018

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Adenomatous Polyposis Families That ScreenAPCMutation–Negative by Conventional Methods Are Genetically Heterogeneous

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2011.01676.X

10.1111/J.1399-0004.2011.01676.X

21 January 2018

Identifiers

DOI

1 reference

28 May 2018

release_57xndltnrbaahm6cprwrzpgqwq

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/57xndltnrbaahm6cprwrzpgqwq

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

21476993

1 reference

28 May 2018