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Items: 1 to 20 of 38

1.

Founding mutations and Alu-mediated recombination in hereditary colon cancer.

Nyström-Lahti M, Kristo P, Nicolaides NC, Chang SY, Aaltonen LA, Moisio AL, Järvinen HJ, Mecklin JP, Kinzler KW, Vogelstein B, et al.

Nat Med. 1995 Nov;1(11):1203-6.

PMID:
7584997
2.

A large MSH2 Alu insertion mutation causes HNPCC in a German kindred.

Kloor M, Sutter C, Wentzensen N, Cremer FW, Buckowitz A, Keller M, von Knebel Doeberitz M, Gebert J.

Hum Genet. 2004 Oct;115(5):432-8. Epub 2004 Aug 31.

PMID:
15340835
3.

[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
4.

Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.

Stella A, Surdo NC, Lastella P, Barana D, Oliani C, Tibiletti MG, Viel A, Natale C, Piepoli A, Marra G, Guanti G.

Clin Genet. 2007 Feb;71(2):130-9.

PMID:
17250661
5.

Genomic DNA-based hMSH2 and hMLH1 mutation screening in 32 Eastern United States hereditary nonpolyposis colorectal cancer pedigrees.

Weber TK, Conlon W, Petrelli NJ, Rodriguez-Bigas M, Keitz B, Pazik J, Farrell C, O'Malley L, Oshalim M, Abdo M, Anderson G, Stoler D, Yandell D.

Cancer Res. 1997 Sep 1;57(17):3798-803.

6.

A common MSH2 mutation in English and North American HNPCC families: origin, phenotypic expression, and sex specific differences in colorectal cancer.

Froggatt NJ, Green J, Brassett C, Evans DG, Bishop DT, Kolodner R, Maher ER.

J Med Genet. 1999 Feb;36(2):97-102.

7.

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
8.

Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations.

Kolodner RD, Hall NR, Lipford J, Kane MF, Rao MR, Morrison P, Wirth L, Finan PJ, Burn J, Chapman P.

Genomics. 1994 Dec;24(3):516-26. Erratum in: Genomics 1995 Aug 10;28(3):613.

PMID:
7713503
9.

Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.

Wehner M, Mangold E, Sengteller M, Friedrichs N, Aretz S, Friedl W, Propping P, Pagenstecher C.

Eur J Hum Genet. 2005 Aug;13(8):983-6.

10.

Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC).

Glasl S, Papatheodorou L, Baretton G, Jung C, Gross M.

Hum Mutat. 2000 Jul;16(1):91-2.

PMID:
10874318
11.

Age and origin of two common MLH1 mutations predisposing to hereditary colon cancer.

Moisio AL, Sistonen P, Weissenbach J, de la Chapelle A, Peltomäki P.

Am J Hum Genet. 1996 Dec;59(6):1243-51.

12.

Presymptomatic diagnosis using a deletion of a single codon in families with hereditary non-polyposis colorectal cancer.

Ripa RS, Katballe N, Wikman FP, Jäger AC, Bernstein I, Orntoft T, Schwartz M, Nielsen FC, Bisgaard ML.

Mutat Res. 2005 Feb 15;570(1):89-96.

PMID:
15680406
14.

The 5' region of the MSH2 gene involved in hereditary non-polyposis colorectal cancer contains a high density of recombinogenic sequences.

Charbonnier F, Baert-Desurmont S, Liang P, Di Fiore F, Martin C, Frerot S, Olschwang S, Wang Q, Buisine MP, Gilbert B, Nilbert M, Lindblom A, Frebourg T.

Hum Mutat. 2005 Sep;26(3):255-61.

PMID:
16086322
15.

[Familial and genetic study in a large Chinese kindred with hereditary nonpolyposis colorectal cancer].

Li TG, Liu XP, Zheng D, Sun JC, Li J, Tan ZP, Qin ZQ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Apr;24(2):227-9. Chinese.

PMID:
17407090
16.

Genomic structure of human mismatch repair gene, hMLH1, and its mutation analysis in patients with hereditary non-polyposis colorectal cancer (HNPCC)

Han HJ, Maruyama M, Baba S, Park JG, Nakamura Y.

Hum Mol Genet. 1995 Feb;4(2):237-42. Erratum in: Hum Mol Genet 2000 Jan 22;9(2):321.

PMID:
7757073
17.

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.

Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJ, Morreau H, Hofstra R, Tops C, Bik E, Bröcker-Vriends AH, van Der Meer C, Lindhout D, Vasen HF, Breuning MH, Cornelisse CJ, van Krimpen C, Niermeijer MF, Zwinderman AH, Wijnen J, Fodde R.

J Med Genet. 2001 May;38(5):318-22.

18.

hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds.

Liu B, Parsons RE, Hamilton SR, Petersen GM, Lynch HT, Watson P, Markowitz S, Willson JK, Green J, de la Chapelle A, et al.

Cancer Res. 1994 Sep 1;54(17):4590-4.

19.

Loss or somatic mutations of hMSH2 occur in hereditary nonpolyposis colorectal cancers with hMSH2 germline mutations.

Lu SL, Akiyama Y, Nagasaki H, Nomizu T, Ikeda E, Baba S, Ushio K, Iwama T, Maruyama K, Yuasa Y.

Jpn J Cancer Res. 1996 Mar;87(3):279-87.

PMID:
8613431
20.

[Hereditary colorectal cancer: Molecular analysis of APC and MLH1 genes].

Bellolio R F, Alvarez V K, De la Fuente L M, León G F, Fullerton M DA, Soto D G, Carvallo de S Q P, López-Köstner F.

Rev Med Chil. 2006 Jul;134(7):841-8. Epub 2006 Aug 29. Spanish.

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