about
A systematic review and economic evaluation of diagnostic strategies for Lynch syndromeAutosomal recessive colorectal adenomatous polyposis due to inherited mutations of MYHGermline PTEN mutations in Cowden syndrome-like families.Identification of two novel SMCHD1 sequence variants in families with FSHD-like muscular dystrophy.Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.The spectrum of p53 mutations in colorectal adenomas differs from that in colorectal carcinomas.A model-based assessment of the cost-utility of strategies to identify Lynch syndrome in early-onset colorectal cancer patients.Disease severity and genetic pathways in attenuated familial adenomatous polyposis vary greatly but depend on the site of the germline mutation.A prospective study of neurofibromatosis type 1 cancer incidence in the UK.Evidence for the simultaneous expression of alternatively spliced alkylpurine N-glycosylase transcripts in human tissues and cells.Guidelines for the clinical management of Lynch syndrome (hereditary non-polyposis cancer).Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European expertsUnusual presentation of Lynch Syndrome.High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype CorrelationThe APC variants I1307K and E1317Q are associated with colorectal tumors, but not always with a family history.DNA mismatch repair deficiency in sporadic colorectal cancer and Lynch syndrome.Use of SSCP analysis to identify germline mutations in HNPCC families fulfilling the Amsterdam criteria.Multilocus Inherited Neoplasia Alleles Syndrome: A Case Series and Review.Gastric tumours in FAP.Molecular testing for somatic mutations in common cancers: the views of UK oncologists.Cancer risk and survival in path_MMR carriers by gene and gender up to 75 years of age: a report from the Prospective Lynch Syndrome Database.Molecular testing for somatic cancer mutations: a survey of current and future testing in UK laboratories.Molecular diagnosis of neurofibromatosis type 1: 2 years experience.Incidence of and survival after subsequent cancers in carriers of pathogenic MMR variants with previous cancer: a report from the prospective Lynch syndrome databaseUniversal consent form might help.The type of somatic mutation at APC in familial adenomatous polyposis is determined by the site of the germline mutation: a new facet to Knudson's 'two-hit' hypothesis.Recommendations to improve identification of hereditary and familial colorectal cancer in Europe.Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3.A systematic review of test accuracy studies evaluating molecular micro-satellite instability testing for the detection of individuals with lynch syndrome.Cerebral primitive neuroectodermal tumor in an adult with a heterozygous MSH2 mutation.Beta-catenin expression and allelic loss at APC in sporadic colorectal carcinogenesis.High-resolution DNA copy number profiling of malignant peripheral nerve sheath tumors using targeted microarray-based comparative genomic hybridization.Guidelines for the clinical management of familial adenomatous polyposis (FAP).Allele loss in colorectal cancer at the Cowden disease/juvenile polyposis locus on 10q.APC mutations in familial adenomatous polyposis families in the Northwest of England.Molecular classification and genetic pathways in hyperplastic polyposis syndromeGenetic counselling and consent for tumour testing in HNPCCAppearances can be deceptive: an APC 1893del4 mutation with unusual properities. Mutations in brief no. 171. OnlineIntron splice acceptor site sequence variation in the hereditary non-polyposis colorectal cancer gene hMSH2Screening for exonic copy number mutations at MSH2 and MLH1 by MAPH
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description
hulumtues
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հետազոտող
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Ian M Frayling
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Ian M Frayling
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Ian M Frayling
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Ian M Frayling
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Ian M Frayling
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Ian M Frayling
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Ian M Frayling
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Ian M Frayling
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Ian M Frayling
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Ian M Frayling
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I Frayling
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Ian Frayling
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Ian M Frayling
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Ian M Frayling
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Ian M Frayling
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Ian M Frayling
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Ian M Frayling
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P21
P31
P496
0000-0002-3420-0794