Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli (Q74604772)

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12 November 2019

title

Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10077047%20AND%20SRC:MED&resulttype=core&format=json

familial adenomatous polyposis

12 November 2019

main subject

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J F Gebert

1

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12 November 2019

C Dupon

2

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12 November 2019

M Kadmon

3

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12 November 2019

M Hahn

4

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12 November 2019

C Herfarth

5

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12 November 2019

M von Knebel Doeberitz

6

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12 November 2019

H K Schackert

7

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12 November 2019

language of work or name

English

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publication date

1 March 1999

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12 November 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10077047%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

volume

229

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12 November 2019

issue

3

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12 November 2019

page(s)

350-361

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

12 November 2019

cites work

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12 December 2020

Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis

1 reference

12 December 2020

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

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

p53 and APC gene mutations: software and databases

1 reference

12 December 2020

Apc gene mutation is associated with a dominant-negative effect upon intestinal cell migration

1 reference

12 December 2020

Identifying the right stop: determining how the surveillance complex recognizes and degrades an aberrant mRNA.

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12 December 2020

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

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12 December 2020

Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis.

1 reference

12 December 2020

Direct solid phase sequencing of genomic and plasmid DNA using magnetic beads as solid support.

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12 December 2020

Diagnosis of familial adenomatous polyposis

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12 December 2020

Association of the APC tumor suppressor protein with catenins

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12 December 2020

Protein truncation test (PTT) for rapid detection of translation-terminating mutations

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12 December 2020

Predictive diagnosis in familial adenomatous polyposis: evaluation of molecular genetic and ophthalmologic methods

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12 December 2020

The role of the adenomatous polyposis coli (APC) gene in human cancers.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Wild-type but not mutant APC associates with the microtubule cytoskeleton.

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12 December 2020

The APC gene product associates with microtubules in vivo and promotes their assembly in vitro.

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12 December 2020

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

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12 December 2020

Identification of a novel germline mutation in a FAP family.

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12 December 2020

Familial adenomatous polyposis

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12 December 2020

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

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12 December 2020

Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene.

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12 December 2020

The molecular basis of Turcot's syndrome

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Evidence against dominant negative mechanisms of intestinal polyp formation by Apc gene mutations.

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12 December 2020

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

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12 December 2020

A single residue in DNA polymerases of the Escherichia coli DNA polymerase I family is critical for distinguishing between deoxy- and dideoxyribonucleotides

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12 December 2020

[Restorative proctocolectomy with ileoanal J-pouch in symptomatic children with familial adenomatous polyposis coli (FAP). Indications and results]

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12 December 2020

Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene.

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12 December 2020

Absence of secretory phospholipase A2 gene alterations in human colorectal cancer

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12 December 2020

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

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12 December 2020

[Desmoid tumors in patients with familial adenomatous polyposis (FAP). Clinical and therapeutic observations from the Heidelberg polyposis register]

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12 December 2020

APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis.

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

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12 December 2020

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

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12 December 2020

Identification and characterization of the familial adenomatous polyposis coli gene

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12 December 2020

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

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12 December 2020

Identification of FAP locus genes from chromosome 5q21

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Germ-line mutations in the first 14 exons of the adenomatous polyposis coli (APC) gene.

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12 December 2020

Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis.

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12 December 2020

Screening for germ-line mutations in familial adenomatous polyposis patients: 61 new patients and a summary of 150 unrelated patients

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12 December 2020

Identical APC exon 15 mutations result in a variable phenotype in familial adenomatous polyposis.

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12 December 2020

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

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12 December 2020

Molecular diagnosis of familial adenomatous polyposis.

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Association of the APC gene product with beta-catenin

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12 December 2020

10.1097/00000658-199903000-00008

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10077047%20AND%20SRC:MED&resulttype=core&format=json

12 November 2019

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