About: Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC)

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About: Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC) Goto Sponge NotDistinct Permalink

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rdf:type	Item
description	article (en) wetenschappelijk artikel (nl) наукова стаття, опублікована у 2006 (uk) im April 2006 veröffentlichter wissenschaftlicher Artikel (de)
publication date	wds:Q59238416-73197777-3472-40E0-931F-B97A64F72B69
publication date	2006-04-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q59238416-4547DAB4-93F7-469C-A63C-AEB5DE6D19C0 wds:Q59238416-78D0BE85-BD89-4C3F-A696-25EF9B8B457D wds:Q59238416-99ADEAD2-C3C4-4644-9E42-8EA4FE8237E2 wds:Q59238416-ADA486D0-7606-4A3D-AA7C-AD24D530BF0C wds:Q59238416-C4C7B015-05DF-4D34-8CCA-904F455ED8FE wds:Q59238416-D3D965F5-951E-46E7-9459-70D855EC0707 wds:Q59238416-D5040B64-79C8-4E04-8E42-564B323FF216 wds:Q59238416-D8A3ABBE-876E-43AA-90BA-7741710B3BC3 wds:Q59238416-F87A7BDE-B3CD-4190-A85F-FD36D5C18EE2
author name string	Ping Liang Pierre Hutter Lili Li Philip H Gordon Frans B L Hogervorst George Chong Rami Younan Desirée Du Sart Susan McVety
rdfs:label	Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC) (en) Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (nl)
skos:prefLabel	Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC) (en) Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (nl)
name	Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC) (en) Distinct patterns of germ-line deletions inMLH1 andMSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (nl)
author	wds:Q59238416-4EE7D61F-B7C2-4738-9583-79C06A8CA232
author	William David Foulkes
title	wds:Q59238416-B92B48DB-668C-483D-9CBE-120EE8B876DE
title	Distinct patterns of germ-line deletions in MLH1 and MSH2: the implication of Alu repetitive element in the genetic etiology of Lynch syndrome (HNPCC) (en)
page(s)	wds:Q59238416-694CF92F-F68B-4620-9D8C-6A54242B9396
page(s)	388
instance of	wds:Q59238416-3388B9EB-DD3D-4E5E-B132-34FE9400EBD4
instance of	scholarly article
main subject	wds:Q59238416-EFE97EB6-92EB-407C-8B95-A5F3676C386F
main subject	Lynch syndrome
PubMed ID	wds:Q59238416-A7D7E748-4DF3-4AD1-B35C-019A6A2BB127
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/16541406
PubMed ID	16541406
published in	wds:Q59238416-C1625935-7F46-466B-A3B8-7B5A889B6E49
published in	Human Mutation
issue	wds:Q59238416-554CB17C-5150-44F9-824E-16D879D661A9
volume	wds:Q59238416-1BD094E7-5DCA-42C3-958E-81C4EF476675
issue	4
volume	27
DOI	wds:Q59238416-E5263EEE-DED5-445D-8AFC-5A90D6938E6B
DOI	http://dx.doi.org/10.1002/HUMU.9417
DOI	10.1002/HUMU.9417
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q59238416
is cites work of	Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements. Plant mitochondrial recombination surveillance requires unusual RecA and MutS homologs. Repetitive sequence environment distinguishes housekeeping genes A unique MSH2 exon 8 deletion accounts for a major portion of all mismatch repair gene mutations in Lynch syndrome families of Sardinian origin Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer A new variant database for mismatch repair genes associated with Lynch syndrome Identification and characterization of a novel MLH1 genomic rearrangement as the cause of HNPCC in a Tunisian family: evidence for a homologous Alu-mediated recombination Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases The contribution of alu elements to mutagenic DNA double-strand break repair Association between methylation in mismatch repair genes, V600E BRAF mutation and microsatellite instability in colorectal cancer patients. Transposable Elements in Human Cancer: Causes and Consequences of Deregulation Non-Hodgkin lymphoma related to hereditary nonpolyposis colorectal cancer in a patient with a novel heterozygous complex deletion in theMSH2 gene Alu elements and DNA double-strand break repair Mobile elements and viral integrations prompt considerations for bacterial DNA integration as a novel carcinogen A common molecular mechanism underlies two phenotypically distinct 17p13.1 microdeletion syndromes Detection and precise mapping of germline rearrangements in BRCA1, BRCA2, MSH2, and MLH1 using zoom-in array comparative genomic hybridization (aCGH). Contribution of large genomic rearrangements in Italian Lynch syndrome patients: characterization of a novel alu-mediated deletion Correlations between long inverted repeat (LIR) features, deletion size and distance from breakpoint in human gross gene deletions Deletions in the 3' part of the NFIX gene including a recurrent Alu-mediated deletion of exon 6 and 7 account for previously unexplained cases of Marshall-Smith syndrome. Alterations of copy number of methylation pattern in mismatch repair genes by methylation specific-multiplex ligation-dependent probe amplification in cases of colon cancer Mutations in STK11 gene in Czech Peutz-Jeghers patients Frequency and variability of genomic rearrangements on MSH2 in Spanish Lynch Syndrome families. A novel complex mutation in MSH2 contributes to both Muir-Torre and Lynch Syndrome
is cites work of	wds:Q37022111-A2CA01B9-A70E-467E-8383-E495C1DAC922 wds:Q35575274-ED4C3149-6C27-4A79-B5E6-A4E23311778B wds:Q36543031-CE744479-66D8-490C-8861-0BBA0DA30F03 wds:Q34077410-A7F0079A-64B5-4720-AD75-722ED8416330 wds:Q39819910-0F910C7B-C9DB-450F-BEFD-FFBDD347EAD2 wds:Q51449182-ABC05638-0AAE-48B7-8041-0D42B5643CDE wds:Q28298882-CF9F7EAD-11A6-49C5-8C61-0ED286987E88 wds:Q38864485-550C8E26-A32C-49C2-9FBE-361AC9327800 wds:Q79573365-5663E15F-5CE6-485D-9242-982936DD35DC wds:Q33483729-35AA19B1-9582-4937-ACB6-E9C77C8D848A wds:Q34053726-5EBA4AA1-AD49-4A37-9185-F3154B841ED5 wds:Q35762302-46DFF7E7-8043-4555-A443-815D02698A16 wds:Q37385768-DCD63D03-F801-4AD4-9BD7-648D1011E63C wds:Q38498899-6EBEA7A2-3C2F-4D8A-9114-5C6A1A94FD48 wds:Q51987533-CDA835A0-265D-46FA-8639-002ACA7BE17F wds:Q53493348-8D867059-0000-4832-9C67-68FBAEAF88FB wds:Q79909235-07BDD66D-C87F-4A57-A82D-B063D6308B9A wds:Q57742646-237EB735-CC96-45FD-8249-69AC369B79A7 wds:Q36362814-56B53CF0-7665-45D3-8E44-E8D4A889A08E wds:Q44080353-7DC7BE45-7521-4DB0-AB47-C8A59AE50310

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