About: Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer

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About: Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer Goto Sponge NotDistinct Permalink

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scientific article published on 01 December 1996

Attributes	Values
rdf:type	Item
description	wetenschappelijk artikel (nl) наукова стаття, опублікована в грудні 1996 (uk) 1996 ഡിസംബര്‍ 1 നു പ്രസിദ്ധീകരിച്ച ശാസ്ത്ര ലേഖനം (ml) im Dezember 1996 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu n'avientu de 1996 (ast) scientific article published on 01 December 1996 (en)
publication date	wds:Q71909569-861E36E6-2316-406B-89AD-B320B5D46CEB
publication date	1996-12-01 00:00:00Z (xsd:dateTime)
author name string	wds:Q71909569-1D8C2E5E-A194-4704-9A43-3C8DD36C41EF wds:Q71909569-366B3127-D8ED-4EB1-9416-4DE18119D4AB wds:Q71909569-75EF3CF3-F3BE-4F18-B7DF-CFB931368873 wds:Q71909569-783BB9EA-C187-4F37-8170-42BC013F482F wds:Q71909569-83F575A0-27B7-49AA-BCF2-561AD0BA1BAF wds:Q71909569-9F83AC67-8D56-41FA-BC9C-9E5320EBD6A2 wds:Q71909569-B2E6A7E3-98E7-4144-802D-A22C5929ABDA wds:Q71909569-D1012439-34DC-4E15-A73B-648B61ABE0B6 wds:Q71909569-E1C22255-00C6-4685-9569-69886F84566A wds:Q71909569-F2C1DA75-4F73-4AF0-8A66-D33862E230A1 wds:Q71909569-FD67D80B-D4F7-4B82-9B2B-00A416CF9B87
author name string	C Martin P Michel F Charbonnier T Frebourg J M Limacher P Dechelotte V Moreau B Paillot J Metayer J B Latouche J L Mauillon
rdfs:label	Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer (en) Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer (nl)
skos:prefLabel	Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer (en) Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer (nl)
name	Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer (en) Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer (nl)
title	wds:Q71909569-F08D4F61-6404-430A-A1CC-A4FF8A5117B4
title	Identification of novel germline hMLH1 mutations including a 22 kb Alu-mediated deletion in patients with familial colorectal cancer (en)
page(s)	wds:Q71909569-5B1E9BD2-D3FA-4A1E-B143-6E94D74653C7
page(s)	5728-5733
instance of	wds:Q71909569-001F0BF8-A8AB-47E6-89A6-850242E018E2
instance of	scholarly article
main subject	wds:Q71909569-1373C4FA-51A8-4F40-B0E7-E236C5E26DF6 wds:Q71909569-AC58EDC3-8A1E-4342-8BBF-F50E737B3B3C
main subject	colorectal cancer colorectal carcinoma
PubMed ID	wds:Q71909569-394DA55D-DAC1-4280-8BE1-E0834D17C843
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/8971183
PubMed ID	8971183
published in	wds:Q71909569-40AB37DE-E7AA-42DF-8A2A-01CCC85D4E82
published in	Cancer Research
issue	wds:Q71909569-85072845-0DAC-48BF-A9A0-3C9E300F5919
volume	wds:Q71909569-D2C9C1A4-33D4-4F94-BEE6-E031BECE3784
issue	24
volume	56
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q71909569
is cites work of	Mutator phenotypes conferred by MLH1 overexpression and by heterozygosity for mlh1 mutations. Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers Genomic deletions of MSH2 and MLH1 in colorectal cancer families detected by a novel mutation detection approach An alternative approach to medical genetics based on modern evolutionary biology. Part 4: HERVs in cancer. ERK1/2 activation is a therapeutic target in age-related macular degeneration. 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 Interstitial deletions and intrachromosomal amplification initiated from a double-strand break targeted to a mammalian chromosome The contribution of alu elements to mutagenic DNA double-strand break repair Characterization of Alu and recombination-associated motifs mediating a large homozygous SPG7 gene rearrangement causing hereditary spastic paraplegia The germline MLH1 K618A variant and susceptibility to Lynch syndrome-associated tumors Prevalence of pathological germline mutations of hMLH1 and hMSH2 genes in colorectal cancer Identification of intragenic deletions and duplication in the FLCN gene in Birt-Hogg-Dubé syndrome. Analysis of hMLH1 and hMSH2 gene dosage alterations in hereditary nonpolyposis colorectal cancer patients by novel methods BTECH: a platform to integrate genomic, transcriptomic and epigenomic alterations in brain tumors Does the occurrence of certain rare cancers indicate an inherited cancer susceptibility? Non-truncating hMLH1 variants identified in Slovenian gastric cancer patients are not associated with Lynch Syndrome: a functional analysis report
is cites work of	wds:Q30906288-1C96BF86-1204-4BEA-9D69-13FC4D51F94C wds:Q36646164-CB4945B4-1389-46F6-9BAA-757B06F2058F wds:Q35575274-EB7A4878-D3BD-429C-BB0A-A925237DEC1C wds:Q38864485-4BAD7FA7-FBE3-493C-A5B3-D149FCF0AF05 wds:Q30484798-AC41A53D-F256-4C6E-8348-53A320546809 wds:Q35608600-80069034-28B2-4000-ADB4-69A92AFB1D5A wds:Q59159730-3C36E6D2-FBAE-4709-84A8-E16BD9330FE0 wds:Q55638631-50F3270B-F353-405D-B50E-E157B779F2EB wds:Q36187269-EAB29222-C4D4-4F9C-AEE5-5FFCA759F96A wds:Q34785861-F1D258A1-8A86-4FEF-87A5-8AF35EBB1606 wds:Q42636230-15FD6665-BF3D-4BE8-B68B-3FA1DB207597 wds:Q85964898-91ACE9C5-D7C1-4BE7-97ED-8A769C4C771D wds:Q33957827-F3C7EDC5-83F7-46C8-873F-69B5F8172C49 wds:Q34633911-06AA789B-A10B-460A-B69C-8697FE19C2E2 wds:Q42793806-F1C30C7D-ECFE-43CF-B783-57ABEA9F5DBA wds:Q43728888-9C67EB18-1509-46C4-B404-13E0DED18746

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