(Q35594917)

9 August 2017

title

Explaining variation in familial adenomatous polyposis: relationship between genotype and phenotype and evidence for modifier genes (English)

1 reference

familial adenomatous polyposis

9 August 2017

main subject

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2

I P M Tomlinson

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9 August 2017

M D Crabtree

1

1 reference

9 August 2017

S V Hodgson

3

1 reference

9 August 2017

K Neale

4

1 reference

9 August 2017

R K S Phillips

5

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9 August 2017

R S Houlston

6

1 reference

9 August 2017

language of work or name

English

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publication date

1 September 2002

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9 August 2017

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9 August 2017

volume

51

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9 August 2017

issue

3

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9 August 2017

page(s)

420-423

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Variability in the severity of colonic disease in familial adenomatous polyposis results from differences in tumour initiation rather than progression and depends relatively little on patient age.

9 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

The 2588G-->C mutation in the ABCR gene is a mild frequent founder mutation in the Western European population and allows the classification of ABCR mutations in patients with Stargardt disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

Genotype-phenotype correlations in attenuated adenomatous polyposis coli

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

A modifying locus for familial adenomatous polyposis may be present on chromosome 1p35-p36

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

Alleles of the APC gene: an attenuated form of familial polyposis

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

Genetic identification of Mom-1, a major modifier locus affecting Min-induced intestinal neoplasia in the mouse

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

The secretory phospholipase A2 gene is a candidate for the Mom1 locus, a major modifier of ApcMin-induced intestinal neoplasia

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

Alternatively spliced adenomatous polyposis coli (APC) gene transcripts that delete exons mutated in attenuated APC.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

Analysis of family resemblance. 3. Complex segregation of quantitative traits

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

Multiple intestinal neoplasia caused by a mutation in the murine homolog of the APC gene

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

Explaining differences in the severity of familial adenomatous polyposis and the search for modifier genes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

Identification of a modifier gene locus on chromosome 1p35-36 in familial adenomatous polyposis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

Secretory phospholipase A2 does not appear to be associated with phenotypic variation in familial adenomatous polyposis.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

Phenotypic expression in familial adenomatous polyposis: partial prediction by mutation analysis

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773342

Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation

26 September 2018

1 reference

12 December 2020

Absence of secretory phospholipase A2 gene alterations in human colorectal cancer

1 reference

12 December 2020

Attenuated familial adenomatous polyposis due to a mutation in the 3' part of the APC gene. A clue for understanding the function of the APC protein

1 reference

12 December 2020

Variants at the secretory phospholipase A2 (PLA2G2A) locus: analysis of associations with familial adenomatous polyposis and sporadic colorectal tumours

1 reference

12 December 2020

APC genotype, polyp number, and surgical options in familial adenomatous polyposis

1 reference

12 December 2020

Identifiers

DOI

10.1136/GUT.51.3.420

1 reference

9 August 2017

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9 August 2017

1 reference