Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity (Q35363250)

7 August 2017

title

Familial adenomatous polyposis: more evidence for disease diversity and genetic heterogeneity (English)

1 reference

familial adenomatous polyposis

7 August 2017

main subject

1 reference

R J Scott

1

1 reference

7 August 2017

C Meldrum

2

1 reference

7 August 2017

R Crooks

3

1 reference

7 August 2017

A D Spigelman

4

1 reference

7 August 2017

J Kirk

5

1 reference

7 August 2017

K Tucker

6

1 reference

7 August 2017

D Koorey

7

1 reference

7 August 2017

Hunter Family Cancer Service

8

1 reference

7 August 2017

language of work or name

English

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publication date

1 April 2001

1 reference

7 August 2017

1 reference

7 August 2017

volume

48

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7 August 2017

issue

4

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7 August 2017

page(s)

508-514

1 reference

Apc1638T: a mouse model delineating critical domains of the adenomatous polyposis coli protein involved in tumorigenesis and development

7 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=1728257

Hyperplastic-adenomatous polyposis syndrome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

The APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Genotype-phenotype correlations in attenuated adenomatous polyposis coli

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Familial infiltrative fibromatosis (desmoid tumours) (MIM135290) caused by a recurrent 3' APC gene mutation.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Hereditary desmoid disease due to a frameshift mutation at codon 1924 of the APC gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Binding of APC to the human homolog of the Drosophila discs large tumor suppressor protein.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Mutation detection by denaturing gradient gel electrophoresis (DGGE).

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Mutations of the APC (adenomatous polyposis coli) gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Mutations in the APC gene and their implications for protein structure and function

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Familial polyposis: recent advances

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

APC binds to the novel protein EB1

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Gardner syndrome in a man with an interstitial deletion of 5q.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

The F-type 5' motif of mouse L1 elements: a major class of L1 termini similar to the A-type in organization but unrelated in sequence

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Localization of the gene for familial adenomatous polyposis on chromosome 5.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Identification of deletion mutations and three new genes at the familial polyposis locus

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Identification of FAP locus genes from chromosome 5q21

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Identification and characterization of the familial adenomatous polyposis coli gene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Colorectal cancer genetics. Closing the gap between genotype and phenotype.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Molecular diagnosis of 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=1728257

Mutational analysis of the first 14 exons of the adenomatous polyposis coli (APC) gene.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Familial adenomatous polyposis: desmoid tumours and lack of ophthalmic lesions (CHRPE) associated with APC mutations beyond codon 1444.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728257

Risk estimates for screening adenomatous polyposis coli

26 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11247895

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Upper gastrointestinal manifestations in families with hereditary flat adenoma syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11247895

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Non-allelic heterogeneity of familial adenomatous polyposis.

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/11247895

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/GUT.48.4.508

1 reference

7 August 2017

1 reference

7 August 2017

1 reference