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Results: 1 to 20 of 815

1.

Functional analysis of HNPCC-related missense mutations in MSH2.

Lützen A, de Wind N, Georgijevic D, Nielsen FC, Rasmussen LJ.

Mutat Res. 2008 Oct 14;645(1-2):44-55. doi: 10.1016/j.mrfmmm.2008.08.015. Epub 2008 Sep 4.

PMID:
18822302
[PubMed - indexed for MEDLINE]
2.

Mechanisms of pathogenicity in human MSH2 missense mutants.

Ollila S, Dermadi Bebek D, Jiricny J, Nyström M.

Hum Mutat. 2008 Nov;29(11):1355-63. doi: 10.1002/humu.20893.

PMID:
18951462
[PubMed - indexed for MEDLINE]
3.

Pathogenicity of MSH2 missense mutations is typically associated with impaired repair capability of the mutated protein.

Ollila S, Sarantaus L, Kariola R, Chan P, Hampel H, Holinski-Feder E, Macrae F, Kohonen-Corish M, Gerdes AM, Peltomäki P, Mangold E, de la Chapelle A, Greenblatt M, Nyström M.

Gastroenterology. 2006 Nov;131(5):1408-17. Epub 2006 Aug 22.

PMID:
17101317
[PubMed - indexed for MEDLINE]
4.

Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?

Kariola R, Otway R, Lönnqvist KE, Raevaara TE, Macrae F, Vos YJ, Kohonen-Corish M, Hofstra RM, Nyström-Lahti M.

Hum Genet. 2003 Feb;112(2):105-9. Epub 2002 Nov 21.

PMID:
12522549
[PubMed - indexed for MEDLINE]
5.

Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome.

Kariola R, Raevaara TE, Lönnqvist KE, Nyström-Lahti M.

Hum Mol Genet. 2002 May 15;11(11):1303-10.

PMID:
12019211
[PubMed - indexed for MEDLINE]
Free Article
6.

Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations.

Pistorius S, Görgens H, Plaschke J, Hoehl R, Krüger S, Engel C, Saeger HD, Schackert HK.

Cancer Lett. 2007 Apr 8;248(1):89-95. Epub 2006 Jul 11.

PMID:
16837128
[PubMed - indexed for MEDLINE]
7.

[Study on the germline mutation of MSH6 gene in Chinese hereditary nonpolyposis colorectal cancer pedigrees using PCR based sequencing].

Yan SY, Zhou XY, Cai SJ, Yu BH, Zhang TM, Li XM, Lu YM, Zhou HH, Mo SJ, Du X, Shi DR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):640-5. Chinese.

PMID:
18067074
[PubMed - indexed for MEDLINE]
8.

MSH2 missense mutations and HNPCC syndrome: pathogenicity assessment in a human expression system.

Belvederesi L, Bianchi F, Galizia E, Loretelli C, Bracci R, Catalani R, Amati M, Cellerino R.

Hum Mutat. 2008 Nov;29(11):E296-309. doi: 10.1002/humu.20875.

PMID:
18781619
[PubMed - indexed for MEDLINE]
9.

Mutation screening of MSH2 and MLH1 mRNA in hereditary non-polyposis colon cancer syndrome.

Froggatt NJ, Brassett C, Koch DJ, Evans DG, Hodgson SV, Ponder BA, Maher ER.

J Med Genet. 1996 Sep;33(9):726-30.

PMID:
8880570
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Msh2 separation of function mutations confer defects in the initiation steps of mismatch repair.

Kijas AW, Studamire B, Alani E.

J Mol Biol. 2003 Aug 1;331(1):123-38.

PMID:
12875840
[PubMed - indexed for MEDLINE]
11.

Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae.

Ellison AR, Lofing J, Bitter GA.

Hum Mol Genet. 2001 Sep 1;10(18):1889-900.

PMID:
11555625
[PubMed - indexed for MEDLINE]
Free Article
12.

Germline MSH2 and MLH1 mutational spectrum including large rearrangements in HNPCC families from Poland (update study).

Kurzawski G, Suchy J, Lener M, Kłujszo-Grabowska E, Kładny J, Safranow K, Jakubowska K, Jakubowska A, Huzarski T, Byrski T, Debniak T, Cybulski C, Gronwald J, Oszurek O, Oszutowska D, Kowalska E, Góźdź S, Niepsuj S, Słomski R, Pławski A, Łacka-Wojciechowska A, Rozmiarek A, Fiszer-Maliszewska Ł, Bebenek M, Sorokin D, Sasiadek MM, Stembalska A, Grzebieniak Z, Kilar E, Stawicka M, Godlewski D, Richter P, Brozek I, Wysocka B, Limon J, Jawień A, Banaszkiewicz Z, Janiszewska H, Kowalczyk J, Czudowska D, Scott RJ, Lubiński J.

Clin Genet. 2006 Jan;69(1):40-7.

PMID:
16451135
[PubMed - indexed for MEDLINE]
13.

Mismatch repair gene mutations in Chinese HNPCC patients.

Sheng JQ, Fu L, Sun ZQ, Huang JS, Han M, Mu H, Zhang H, Zhang YZ, Zhang MZ, Li AQ, Wu ZT, Han Y, Li SR.

Cytogenet Genome Res. 2008;122(1):22-7. doi: 10.1159/000151312. Epub 2008 Oct 14.

PMID:
18931482
[PubMed - indexed for MEDLINE]
14.

HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions.

de Wind N, Dekker M, Claij N, Jansen L, van Klink Y, Radman M, Riggins G, van der Valk M, van't Wout K, te Riele H.

Nat Genet. 1999 Nov;23(3):359-62.

PMID:
10545954
[PubMed - indexed for MEDLINE]
15.

The importance of functional testing in the genetic assessment of Muir-Torre syndrome, a clinical subphenotype of HNPCC.

Ollila S, Fitzpatrick R, Sarantaus L, Kariola R, Ambus I, Velsher L, Hsieh E, Andersen MK, Raevaara TE, Gerdes AM, Mangold E, Peltomäki P, Lynch HT, Nyström M.

Int J Oncol. 2006 Jan;28(1):149-53.

PMID:
16327991
[PubMed - indexed for MEDLINE]
16.

Contribution of Msh2 and Msh6 subunits to the asymmetric ATPase and DNA mismatch binding activities of Saccharomyces cerevisiae Msh2-Msh6 mismatch repair protein.

Antony E, Khubchandani S, Chen S, Hingorani MM.

DNA Repair (Amst). 2006 Feb 3;5(2):153-62. Epub 2005 Oct 7.

PMID:
16214425
[PubMed - indexed for MEDLINE]
17.

Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer.

Jin HY, Liu X, Li VK, Ding Y, Yang B, Geng J, Lai R, Ding S, Ni M, Zhao R.

BMC Cancer. 2008 Feb 7;8:44. doi: 10.1186/1471-2407-8-44.

PMID:
18257912
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Functional characterization of MLH1 missense variants identified in Lynch syndrome patients.

Andersen SD, Liberti SE, Lützen A, Drost M, Bernstein I, Nilbert M, Dominguez M, Nyström M, Hansen TV, Christoffersen JW, Jäger AC, de Wind N, Nielsen FC, Tørring PM, Rasmussen LJ.

Hum Mutat. 2012 Dec;33(12):1647-55. doi: 10.1002/humu.22153. Epub 2012 Jul 23.

PMID:
22753075
[PubMed - indexed for MEDLINE]
19.

Gene-related cancer spectrum in families with hereditary non-polyposis colorectal cancer (HNPCC).

Geary J, Sasieni P, Houlston R, Izatt L, Eeles R, Payne SJ, Fisher S, Hodgson SV.

Fam Cancer. 2008;7(2):163-72. Epub 2007 Oct 16.

PMID:
17939062
[PubMed - indexed for MEDLINE]
20.

Multiplex SNaPshot genotyping for detecting loss of heterozygosity in the mismatch-repair genes MLH1 and MSH2 in microsatellite-unstable tumors.

Bujalkova M, Zavodna K, Krivulcik T, Ilencikova D, Wolf B, Kovac M, Karner-Hanusch J, Heinimann K, Marra G, Jiricny J, Bartosova Z.

Clin Chem. 2008 Nov;54(11):1844-54. doi: 10.1373/clinchem.2008.108902. Epub 2008 Sep 4.

PMID:
18772310
[PubMed - indexed for MEDLINE]
Free Article

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