Genetic and clinical characterisation of familial adenomatous polyposis: a population based study
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Rare mutations predisposing to familial adenomatous polyposis in Greek FAP patientsNovel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects.Clinical characterization and the mutation spectrum in Swedish adenomatous polyposis families.Inactivation of promoter 1B of APC causes partial gene silencing: evidence for a significant role of the promoter in regulation and causative of familial adenomatous polyposis.Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis?Hepatocelluar carcinoma associated with attenuated familial adenomatous polyposis: a case report and review of the literature.Proportion and phenotype of MYH-associated colorectal neoplasia in a population-based series of Finnish colorectal cancer patients.Molecular basis and diagnostics of hereditary colorectal cancers.A De Novo Germline APC Mutation (3927del5) in a Patient with Familial Adenomatous Polyposis: Case Report and Literature Review.The Role of Chromosomal Instability and Epigenetics in Colorectal Cancers Lacking β-Catenin/TCF Regulated TranscriptionAlternative splicing and tumor progression.Risk of ileal pouch neoplasms in patients with familial adenomatous polyposisAnalysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.Tumor suppressor genes in familial adenomatous polyposisColorectal cancer in the very young: a comparative study of tumor markers, pathology and survival in early onset and adult onset patients.Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families.Intraductal papillary mucinous neoplasm of the pancreas in a patient with attenuated familial adenomatous polyposis.Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.Attenuated adenomatous polyposis of the large bowel: Present and future.Barrett esophagus with progression to adenocarcinoma in multiple family members with attenuated familial polyposis.Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype.Prevalence and risk factors for adenomas in the ileal pouch and the afferent loop after restorative proctocolectomy for patients with familial adenomatous polyposis.Attenuated familial adenomatous polyposis: results from an international collaborative study.Familial adenomatous polyposis: analysis of genetic instability of microsatellites Loci and genetic alternations of tumor suppressor genes.Nine primary malignant neoplasms-involving the esophagus, stomach, colon, rectum, prostate, and external ear canal-without microsatellite instability: a case report.Germline mutations in patients with multiple colorectal polyps in China.Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.Relative role of APC and MUTYH mutations in the pathogenesis of familial adenomatous polyposis.Singapore familial adenomatous polyposis (FAP) patients with classical adenomatous polyposis but undetectable APC mutations have accelerated cancer progression.APC haploinsufficiency, but not CTNNB1 or CDH1 gene mutations, accounts for a fraction of familial adenomatous polyposis patients without APC truncating mutations.
P2860
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P2860
Genetic and clinical characterisation of familial adenomatous polyposis: a population based study
description
2002 nî lūn-bûn
@nan
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
2002年论文
@zh
2002年论文
@zh-cn
name
Genetic and clinical character ...... osis: a population based study
@ast
Genetic and clinical character ...... osis: a population based study
@en
type
label
Genetic and clinical character ...... osis: a population based study
@ast
Genetic and clinical character ...... osis: a population based study
@en
prefLabel
Genetic and clinical character ...... osis: a population based study
@ast
Genetic and clinical character ...... osis: a population based study
@en
P2093
P2860
P356
P1433
P1476
Genetic and clinical character ...... osis: a population based study
@en
P2093
A-L Moisio
H Järvinen
P Peltomäki
P2860
P304
P356
10.1136/GUT.50.6.845
P407
P577
2002-06-01T00:00:00Z