(Q41872886)

13 October 2017

Genotype-phenotype correlations of new causative APC gene mutations in patients with familial adenomatous polyposis (English)

1 reference

13 October 2017

Bunyan DJ

1

1 reference

13 October 2017

Shea-Simonds J

2

1 reference

13 October 2017

Reck AC

3

1 reference

13 October 2017

Finnis D

4

1 reference

13 October 2017

Eccles DM

5

1 reference

13 October 2017

language of work or name

English

0 references

publication date

1 September 1995

1 reference

Journal of Medical Genetics

13 October 2017

1 reference

13 October 2017

32

1 reference

13 October 2017

728-731

1 reference

13 October 2017

9

1 reference

The APC gene product in normal and tumor cells

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Dimer formation by an N-terminal coiled coil in the APC protein

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Life expectancy after colectomy and ileorectal anastomosis for familial adenomatous polyposis.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Regionally clustered APC mutations are associated with a severe phenotype and occur at a high frequency in new mutation cases of adenomatous polyposis coli.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Mutations of the APC (adenomatous polyposis coli) gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

APC mutation associated with late onset of familial adenomatous polyposis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Identification of FAP locus genes from chromosome 5q21

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Identification and characterization of the familial adenomatous polyposis coli gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Eight novel inactivating germ line mutations at the APC gene identified by denaturing gradient gel electrophoresis

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Correlation between the location of germ-line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Association between wild type and mutant APC gene products.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Coexistence of somatic and germ-line mutations of APC gene in desmoid tumors from patients with familial adenomatous polyposis.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

Age of onset in familial adenomatous polyposis: heterogeneity within families and among APC mutations.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051675

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

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8544194

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Genotype-phenotype correlation between position of constitutional APC gene mutation and CHRPE expression in familial adenomatous polyposis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8544194

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.32.9.728

1 reference

13 October 2017

1 reference

13 October 2017

1 reference