Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). (Q54441823)

29 May 2018

title

Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP). (English)

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29 May 2018

familial adenomatous polyposis

main subject

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7

Peter Propping

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29 May 2018

author name string

Stefan Aretz

1

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29 May 2018

Dietlinde Stienen

2

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29 May 2018

Nicolaus Friedrichs

3

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29 May 2018

Susanne Stemmler

4

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29 May 2018

Siegfried Uhlhaas

5

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29 May 2018

Nils Rahner

6

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29 May 2018

Waltraut Friedl

8

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29 May 2018

publication date

1 October 2007

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29 May 2018

published in

Human Mutation

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29 May 2018

volume

28

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29 May 2018

issue

10

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29 May 2018

page(s)

985-992

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29 May 2018

Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients

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Frequency and parental origin of de novo APC mutations in familial adenomatous polyposis

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Large submicroscopic genomic APC deletions are a common cause of typical familial adenomatous polyposis

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7 January 2021

MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotype

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Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis.

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Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate

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7 January 2021

Genetic testing and phenotype in a large kindred with attenuated familial adenomatous polyposis.

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

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

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Clonal analysis of human colorectal tumors

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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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7 January 2021

Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families

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7 January 2021

Single nucleotide extension technology for quantitative site-specific evaluation of metC/C in GC-rich regions

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Attenuated familial adenomatous polyposis (AFAP). A review of the literature

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Analysis of masked mutations in familial adenomatous polyposis

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Somatic mosaicism in hemophilia A: a fairly common event.

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Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma

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Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).

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7 January 2021

Polyclonal origin of colonic adenomas in an XO/XY patient with FAP.

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7 January 2021

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

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7 January 2021

Monoallelic mutation analysis (MAMA) for identifying germline mutations

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7 January 2021

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7 January 2021

Adenomatous Polyposis Families That ScreenAPCMutation–Negative by Conventional Methods Are Genetically Heterogeneous

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7 January 2021

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Autosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYH

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7 January 2021

Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents

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7 January 2021

Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.

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7 January 2021

Genotype-phenotype correlations in attenuated adenomatous polyposis coli

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7 January 2021

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

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7 January 2021

Molecular screening of potential HNPCC patients using a multiplex microsatellite PCR system

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7 January 2021

Evaluation of a potential epigenetic biomarker by quantitative methyl-single nucleotide polymorphism analysis

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7 January 2021

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

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7 January 2021

High rate of mosaicism in tuberous sclerosis complex

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7 January 2021

Female germline mosaicism in tuberous sclerosis confirmed by molecular genetic analysis

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7 January 2021

Mechanisms and consequences of somatic mosaicism in humans

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7 January 2021

Identifiers

DOI

10.1002/HUMU.20549

1 reference

29 May 2018

1 reference

29 May 2018