Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation
about
Colorectal cancer: molecules and populations.Gardner syndrome: skin manifestations, differential diagnosis and management.Review article: genetic testing and counselling for hereditary colorectal cancer.The genetic basis of colonic adenomatous polyposis syndromesACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromesRestorative proctocolectomy and ileal pouch-anal anastomosis for familial adenomatous polyposis revisited.Racial variation in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testingThe importance of a large sample cohort for studies on modifier genes influencing disease severity in FAP patients.Multiple primary cancers as a guide to heritability.Aberrant expression of lysophosphatidic acid (LPA) receptors in human colorectal cancer.Differences in neuropsychological and behavioral parameters and brain structure in patients with familial adenomatous polyposis: a sibling-paired study.The Min mouse: a genetic model for intestinal carcinogenesis.Two different nucleotide substitutions of APC gene in a family with familial adenomatous polyposis.APC, MYH, and the correlation genotype-phenotype in colorectal polyposis.Recurrent desmoids determine outcome in patients with Gardner syndrome: a cohort study of three generations of an APC mutation-positive family across 30 years.Two Chinese pedigrees for adenomatous polyposis coli: new mutations at codon 1309 and predisposition to phenotypic variations.Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families.Genetic dissection of the Mom5 modifier locus and evaluation of Mom5 candidate genes.Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis.Somatic APC mosaicism: a frequent cause of familial adenomatous polyposis (FAP).Congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis. Novel criteria of assessment and correlations with constitutional adenomatous polyposis coli gene mutations.Attenuated familial adenomatous polyposis (AFAP). A phenotypically and genotypically distinctive variant of FAP.Colorectal cancer genetics. Closing the gap between genotype and phenotype.
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P2860
Phenotypic variability of familial adenomatous polyposis in 11 unrelated families with identical APC gene mutation
description
article
@en
im Juni 1994 veröffentlichter wissenschaftlicher Artikel
@de
wetenschappelijk artikel
@nl
наукова стаття, опублікована в червні 1994
@uk
ലേഖനം
@ml
name
Phenotypic variability of fami ...... th identical APC gene mutation
@en
Phenotypic variability of fami ...... th identical APC gene mutation
@nl
type
label
Phenotypic variability of fami ...... th identical APC gene mutation
@en
Phenotypic variability of fami ...... th identical APC gene mutation
@nl
prefLabel
Phenotypic variability of fami ...... th identical APC gene mutation
@en
Phenotypic variability of fami ...... th identical APC gene mutation
@nl
P2093
P1433
P1476
Phenotypic variability of fami ...... th identical APC gene mutation
@en
P2093
F M Giardiello
G M Petersen
S R Hamilton
S V Booker
P304
P356
10.1016/0016-5085(94)90408-1
P407
P577
1994-06-01T00:00:00Z