Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status (Q35352952)

7 August 2017

title

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

1 reference

familial adenomatous polyposis

7 August 2017

main subject

1 reference

Heinimann K

1

1 reference

7 August 2017

Müllhaupt B

2

1 reference

7 August 2017

Weber W

3

1 reference

7 August 2017

Attenhofer M

4

1 reference

7 August 2017

Scott RJ

5

1 reference

7 August 2017

Fried M

6

1 reference

7 August 2017

Martinoli S

7

1 reference

7 August 2017

Müller H

8

1 reference

7 August 2017

Dobbie Z

9

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 November 1998

1 reference

7 August 2017

1 reference

7 August 2017

volume

43

1 reference

7 August 2017

issue

5

1 reference

7 August 2017

page(s)

675-679

1 reference

Severe upper gastrointestinal polyposis associated with sparse colonic polyposis in a familial adenomatous polyposis family with an APC mutation at codon 1520.

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=1727303

APC mutations in familial adenomatous polyposis families in the Northwest of England.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727303

APC gene mutations and extraintestinal phenotype of familial adenomatous 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=1727303

Phenotypic expression of disease in families that have mutations in the 5' region of the 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=1727303

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=1727303

Gastric epithelial polyps: a retrospective endoscopic study of 12974 symptomatic 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=1727303

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=1727303

Mutational analysis of patients with adenomatous polyposis: identical inactivating mutations in unrelated individuals.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727303

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=1727303

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727303

Exclusion of the APC gene as the cause of a variant form of familial adenomatous polyposis (FAP)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727303

Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of 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=1727303

Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous 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=1727303

Mortality in young first-degree relatives of patients with familial adenomatous 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=1727303

Desmoid tumours in familial adenomatous 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=1727303

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=1727303

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=1727303

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727303

Genetic counselling and gene mutation analysis in familial adenomatous polyposis in Western Australia.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727303

Desmoid tumors in patients with familial adenomatous 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=1727303

Severe Gardner syndrome in families with mutations restricted to a specific region 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=1727303

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=1727303

Gastroduodenal polyps in familial 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=1727303

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=1727303

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=1727303

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=1727303

Germ-line mutations of the APC gene in 53 familial adenomatous polyposis 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=1727303

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727303

Colorectal polyp counts and cancer risk 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=1727303

Epithelial proliferation and differentiation in flat duodenal mucosa of patients with 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=1727303

Screening practice for familial adenomatous polyposis: the potential for regional registers.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727303

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=1727303

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=1727303

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=1727303

Clinical and biologic features of adenomatosis coli in Northern Italy.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727303

The Danish Polyposis Register. Description of the methods of detection and evaluation of completeness.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727303

The gene for familial polyposis coli maps to the long arm of chromosome 5.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727303

Upper gastrointestinal manifestations in families with hereditary flat adenoma syndrome

26 September 2018

1 reference

12 December 2020

APC gene mutations in Italian familial polyposis coli patients

1 reference

12 December 2020

Non-allelic heterogeneity of familial adenomatous polyposis.

1 reference

12 December 2020

Familial adenomatous polyposis

1 reference

12 December 2020

Identification of germ line mutation of APC gene in possible carriers of familial adenomatous polyposis (FAP)

1 reference

12 December 2020

Frequency, location, and age and sex distribution of various types of gastric polyp

1 reference

12 December 2020

Duodenal adenomatosis in familial adenomatous polyposis

1 reference

12 December 2020

Upper intestinal surveillance in familial adenomatous polyposis

1 reference

12 December 2020

Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and southern analysis

1 reference

12 December 2020

Identifiers

DOI

10.1136/GUT.43.5.675

1 reference

7 August 2017

1 reference

7 August 2017

1 reference