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Results: 1 to 20 of 121

Similar articles for PubMed (Select 20533529)

1.

Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair.

Kosinski J, Hinrichsen I, Bujnicki JM, Friedhoff P, Plotz G.

Hum Mutat. 2010 Aug;31(8):975-82. doi: 10.1002/humu.21301.

2.

Multivariate analysis of MLH1 c.1664T>C (p.Leu555Pro) mismatch repair gene variant demonstrates its pathogenicity.

Farrell MP, Hughes DJ, Drost M, Wallace AJ, Cummins RJ, Fletcher TA, Meany MA, Kay EW, de Wind N, Power DG, Andrews EJ, Green AJ, Gallagher DJ.

Fam Cancer. 2013 Dec;12(4):741-7. doi: 10.1007/s10689-013-9652-9.

PMID:
23712482
3.

Screening for germline mutations of MLH1, MSH2, MSH6 and PMS2 genes in Slovenian colorectal cancer patients: implications for a population specific detection strategy of Lynch syndrome.

Berginc G, Bracko M, Ravnik-Glavac M, Glavac D.

Fam Cancer. 2009;8(4):421-9. doi: 10.1007/s10689-009-9258-4. Epub 2009 Jun 13.

PMID:
19526325
4.

PMS2 involvement in patients suspected of Lynch syndrome.

Niessen RC, Kleibeuker JH, Westers H, Jager PO, Rozeveld D, Bos KK, Boersma-van Ek W, Hollema H, Sijmons RH, Hofstra RM.

Genes Chromosomes Cancer. 2009 Apr;48(4):322-9. doi: 10.1002/gcc.20642.

PMID:
19132747
5.

Conservation of functional asymmetry in the mammalian MutLα ATPase.

Johnson JR, Erdeniz N, Nguyen M, Dudley S, Liskay RM.

DNA Repair (Amst). 2010 Nov 10;9(11):1209-13. doi: 10.1016/j.dnarep.2010.08.006.

6.

Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome.

Zighelboim I, Powell MA, Babb SA, Whelan AJ, Schmidt AP, Clendenning M, Senter L, Thibodeau SN, de la Chapelle A, Goodfellow PJ.

Fam Cancer. 2009;8(4):501-4. doi: 10.1007/s10689-009-9276-2. Epub 2009 Aug 12.

7.

Four novel germline mutations in the MLH1 and PMS2 mismatch repair genes in patients with hereditary nonpolyposis colorectal cancer.

Montazer Haghighi M, Radpour R, Aghajani K, Zali N, Molaei M, Zali MR.

Int J Colorectal Dis. 2009 Aug;24(8):885-93. doi: 10.1007/s00384-009-0731-1. Epub 2009 May 29.

PMID:
19479271
8.

Preoperative diagnosis of Lynch syndrome with DNA mismatch repair immunohistochemistry on a diagnostic biopsy.

Warrier SK, Trainer AH, Lynch AC, Mitchell C, Hiscock R, Sawyer S, Boussioutas A, Heriot AG.

Dis Colon Rectum. 2011 Dec;54(12):1480-7. doi: 10.1097/DCR.0b013e318231db1f.

PMID:
22067175
9.

Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.

Mueller J, Gazzoli I, Bandipalliam P, Garber JE, Syngal S, Kolodner RD.

Cancer Res. 2009 Sep 1;69(17):7053-61. doi: 10.1158/0008-5472.CAN-09-0358. Epub 2009 Aug 18.

10.

Influence of eight unclassified missense variants of the MLH1 gene on Lynch syndrome susceptibility.

Fan Y, Chen J, Wang W, Wu P, Zhi W, Xue B, Zhang W, Wang Y.

Biochem Genet. 2012 Feb;50(1-2):84-93. doi: 10.1007/s10528-011-9467-z. Epub 2011 Sep 28.

PMID:
21952876
11.

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
12.

Comprehensive functional assessment of MLH1 variants of unknown significance.

Borràs E, Pineda M, Brieger A, Hinrichsen I, Gómez C, Navarro M, Balmaña J, Ramón y Cajal T, Torres A, Brunet J, Blanco I, Plotz G, Lázaro C, Capellá G.

Hum Mutat. 2012 Nov;33(11):1576-88. doi: 10.1002/humu.22142. Epub 2012 Jul 12. Erratum in: Hum Mutat. 2013 Jan;34(1):274.

PMID:
22736432
13.

Immunohistochemistry as first-line screening for detecting colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome: a 2-antibody panel may be as predictive as a 4-antibody panel.

Shia J, Tang LH, Vakiani E, Guillem JG, Stadler ZK, Soslow RA, Katabi N, Weiser MR, Paty PB, Temple LK, Nash GM, Wong WD, Offit K, Klimstra DS.

Am J Surg Pathol. 2009 Nov;33(11):1639-45. doi: 10.1097/PAS.0b013e3181b15aa2. Erratum in: Am J Surg Pathol. 2010 Mar;34(3):432.

PMID:
19701074
14.

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Buchanan DD, Tan YY, Walsh MD, Clendenning M, Metcalf AM, Ferguson K, Arnold ST, Thompson BA, Lose FA, Parsons MT, Walters RJ, Pearson SA, Cummings M, Oehler MK, Blomfield PB, Quinn MA, Kirk JA, Stewart CJ, Obermair A, Young JP, Webb PM, Spurdle AB.

J Clin Oncol. 2014 Jan 10;32(2):90-100. doi: 10.1200/JCO.2013.51.2129. Epub 2013 Dec 9.

15.
16.

Integrated analysis of unclassified variants in mismatch repair genes.

Pastrello C, Pin E, Marroni F, Bedin C, Fornasarig M, Tibiletti MG, Oliani C, Ponz de Leon M, Urso ED, Della Puppa L, Agostini M, Viel A.

Genet Med. 2011 Feb;13(2):115-24. doi: 10.1097/GIM.0b013e3182011489.

PMID:
21239990
17.

Assessing pathogenicity of MLH1 variants by co-expression of human MLH1 and PMS2 genes in yeast.

Vogelsang M, Comino A, Zupanec N, Hudler P, Komel R.

BMC Cancer. 2009 Oct 28;9:382. doi: 10.1186/1471-2407-9-382.

18.

Nuclear import of human MLH1, PMS2, and MutLalpha: redundancy is the key.

Leong V, Lorenowicz J, Kozij N, Guarné A.

Mol Carcinog. 2009 Aug;48(8):742-50. doi: 10.1002/mc.20514.

PMID:
19148896
19.

Assessing the pathogenicity of MLH1 missense mutations in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with clinical, genetic and functional features.

Belvederesi L, Bianchi F, Loretelli C, Gagliardini D, Galizia E, Bracci R, Rosati S, Bearzi I, Viel A, Cellerino R, Porfiri E.

Eur J Hum Genet. 2006 Jul;14(7):853-9. Epub 2006 May 17.

20.

Functional testing strategy for coding genetic variants of unclear significance in MLH1 in Lynch syndrome diagnosis.

Hinrichsen I, Schäfer D, Langer D, Köger N, Wittmann M, Aretz S, Steinke V, Holzapfel S, Trojan J, König R, Zeuzem S, Brieger A, Plotz G.

Carcinogenesis. 2015 Feb;36(2):202-11. doi: 10.1093/carcin/bgu239. Epub 2014 Dec 4.

PMID:
25477341
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