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Items: 34

1.

Comprehensive characterization of HNPCC-related colorectal cancers reveals striking molecular features in families with no germline mismatch repair gene mutations.

Abdel-Rahman WM, Ollikainen M, Kariola R, Järvinen HJ, Mecklin JP, Nyström-Lahti M, Knuutila S, Peltomäki P.

Oncogene. 2005 Feb 24;24(9):1542-51.

PMID:
15674332
2.

MSH6 missense mutations are often associated with no or low cancer susceptibility.

Kariola R, Hampel H, Frankel WL, Raevaara TE, de la Chapelle A, Nyström-Lahti M.

Br J Cancer. 2004 Oct 4;91(7):1287-92.

3.

HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1.

Raevaara TE, Gerdes AM, Lönnqvist KE, Tybjaerg-Hansen A, Abdel-Rahman WM, Kariola R, Peltomäki P, Nyström-Lahti M.

Genes Chromosomes Cancer. 2004 Jul;40(3):261-5.

PMID:
15139004
4.

Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein.

Raevaara TE, Vaccaro C, Abdel-Rahman WM, Mocetti E, Bala S, Lönnqvist KE, Kariola R, Lynch HT, Peltomäki P, Nyström-Lahti M.

Gastroenterology. 2003 Aug;125(2):501-9.

PMID:
12891553
5.

Novel MLH1 and MSH2 germline mutations in the first HNPCC families identified in Slovakia.

Bartosova Z, Fridrichova I, Bujalkova M, Wolf B, Ilencikova D, Krizan P, Hlavcak P, Palaj J, Lukac L, Lukacova M, Böör A, Haider R, Jiricny J, Nyström-Lahti M, Marra G.

Hum Mutat. 2003 Apr;21(4):449.

PMID:
12655568
6.

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
7.

Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer.

Raevaara TE, Timoharju T, Lönnqvist KE, Kariola R, Steinhoff M, Hofstra RM, Mangold E, Vos YJ, Nyström-Lahti M.

J Med Genet. 2002 Oct;39(10):747-50. No abstract available.

8.

PTEN mutational spectra, expression levels, and subcellular localization in microsatellite stable and unstable colorectal cancers.

Zhou XP, Loukola A, Salovaara R, Nystrom-Lahti M, Peltomäki P, de la Chapelle A, Aaltonen LA, Eng C.

Am J Pathol. 2002 Aug;161(2):439-47.

9.

Endometrial and colorectal tumors from patients with hereditary nonpolyposis colon cancer display different patterns of microsatellite instability.

Kuismanen SA, Moisio AL, Schweizer P, Truninger K, Salovaara R, Arola J, Butzow R, Jiricny J, Nyström-Lahti M, Peltomäki P.

Am J Pathol. 2002 Jun;160(6):1953-8.

10.

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
11.
12.

Functional analysis of MLH1 mutations linked to hereditary nonpolyposis colon cancer.

Nyström-Lahti M, Perrera C, Räschle M, Panyushkina-Seiler E, Marra G, Curci A, Quaresima B, Costanzo F, D'Urso M, Venuta S, Jiricny J.

Genes Chromosomes Cancer. 2002 Feb;33(2):160-7.

PMID:
11793442
13.

Tolerance of human MSH2+/- lymphoblastoid cells to the methylating agent temozolomide.

Marra G, D'Atri S, Corti C, Bonmassar L, Cattaruzza MS, Schweizer P, Heinimann K, Bartosova Z, Nyström-Lahti M, Jiricny J.

Proc Natl Acad Sci U S A. 2001 Jun 19;98(13):7164-9.

14.

Lack of MSH2 and MSH6 characterizes endometrial but not colon carcinomas in hereditary nonpolyposis colorectal cancer.

Schweizer P, Moisio AL, Kuismanen SA, Truninger K, Vierumäki R, Salovaara R, Arola J, Butzow R, Jiricny J, Peltomäki P, Nyström-Lahti M.

Cancer Res. 2001 Apr 1;61(7):2813-5.

15.

Mismatch repair defects in cancer.

Jiricny J, Nyström-Lahti M.

Curr Opin Genet Dev. 2000 Apr;10(2):157-61. Review.

PMID:
10753784
16.

Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction.

Aktan-Collan K, Mecklin JP, Järvinen H, Nyström-Lahti M, Peltomäki P, Söderling I, Uutela A, de la Chapelle A, Kääriäinen H.

Int J Cancer. 2000 Jan 20;89(1):44-50.

17.

Identification of hMutLbeta, a heterodimer of hMLH1 and hPMS1.

Räschle M, Marra G, Nyström-Lahti M, Schär P, Jiricny J.

J Biol Chem. 1999 Nov 5;274(45):32368-75.

18.

Epigenetic phenotypes distinguish microsatellite-stable and -unstable colorectal cancers.

Kuismanen SA, Holmberg MT, Salovaara R, Schweizer P, Aaltonen LA, de La Chapelle A, Nyström-Lahti M, Peltomäki P.

Proc Natl Acad Sci U S A. 1999 Oct 26;96(22):12661-6.

19.

Missense and nonsense mutations in codon 659 of MLH1 cause aberrant splicing of messenger RNA in HNPCC kindreds.

Nyström-Lahti M, Holmberg M, Fidalgo P, Salovaara R, de la Chapelle A, Jiricny J, Peltomäki P.

Genes Chromosomes Cancer. 1999 Dec;26(4):372-5.

PMID:
10534773
20.

Mutation sharing, predominant involvement of the MLH1 gene and description of four novel mutations in hereditary nonpolyposis colorectal cancer. Mutations in brief no. 144. Online.

Holmberg M, Kristo P, Chadwicks RB, Mecklin JP, Järvinen H, de la Chapelle A, Nyström-Lahti M, Peltomäki P.

Hum Mutat. 1998;11(6):482.

PMID:
10200055
21.

MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis.

Wu Y, Nyström-Lahti M, Osinga J, Looman MW, Peltomäki P, Aaltonen LA, de la Chapelle A, Hofstra RM, Buys CH.

Genes Chromosomes Cancer. 1997 Apr;18(4):269-78.

PMID:
9087566
22.

Low frequency of hMSH2 mutations in Swedish HNPCC families.

Wahlberg SS, Nyström-Lahti M, Kane MF, Kolodner RD, Peltomäki P, Lindblom A.

Int J Cancer. 1997 Feb 20;74(1):134-7. No abstract available.

23.

DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer.

Nyström-Lahti M, Wu Y, Moisio AL, Hofstra RM, Osinga J, Mecklin JP, Järvinen HJ, Leisti J, Buys CH, de la Chapelle A, Peltomäki P.

Hum Mol Genet. 1996 Jun;5(6):763-9.

PMID:
8776590
24.

Life-time risk of different cancers in hereditary non-polyposis colorectal cancer (HNPCC) syndrome.

Aarnio M, Mecklin JP, Aaltonen LA, Nyström-Lahti M, Järvinen HJ.

Int J Cancer. 1995 Dec 20;64(6):430-3.

PMID:
8550246
25.

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
26.

Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer.

Hemminki A, Peltomäki P, Mecklin JP, Järvinen H, Salovaara R, Nyström-Lahti M, de la Chapelle A, Aaltonen LA.

Nat Genet. 1994 Dec;8(4):405-10.

PMID:
7894494
27.

Mismatch repair genes on chromosomes 2p and 3p account for a major share of hereditary nonpolyposis colorectal cancer families evaluable by linkage.

Nyström-Lahti M, Parsons R, Sistonen P, Pylkkänen L, Aaltonen LA, Leach FS, Hamilton SR, Watson P, Bronson E, Fusaro R, et al.

Am J Hum Genet. 1994 Oct;55(4):659-65.

28.

Mutation of an mutL homologue in a Navajo family with hereditary nonpolyposis colorectal cancer.

Lynch HT, Drouhard T, Lanspa S, Smyrk T, Lynch P, Lynch J, Vogelstein B, Nyström-Lahti M, Sistonen P, Peltomäki P, et al.

J Natl Cancer Inst. 1994 Sep 21;86(18):1417-9. No abstract available.

PMID:
8072036
29.

Close linkage to chromosome 3p and conservation of ancestral founding haplotype in hereditary nonpolyposis colorectal cancer families.

Nyström-Lahti M, Sistonen P, Mecklin JP, Pylkkänen L, Aaltonen LA, Järvinen H, Weissenbach J, de la Chapelle A, Peltomäki P.

Proc Natl Acad Sci U S A. 1994 Jun 21;91(13):6054-8.

30.

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer.

Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomäki P, Sistonen P, Aaltonen LA, Nyström-Lahti M, et al.

Cell. 1993 Dec 17;75(6):1215-25.

PMID:
8261515
31.

Microsatellite instability is associated with tumors that characterize the hereditary non-polyposis colorectal carcinoma syndrome.

Peltomäki P, Lothe RA, Aaltonen LA, Pylkkänen L, Nyström-Lahti M, Seruca R, David L, Holm R, Ryberg D, Haugen A, et al.

Cancer Res. 1993 Dec 15;53(24):5853-5.

PMID:
8261393
32.

Genomic instability in colorectal cancer: relationship to clinicopathological variables and family history.

Lothe RA, Peltomäki P, Meling GI, Aaltonen LA, Nyström-Lahti M, Pylkkänen L, Heimdal K, Andersen TI, Møller P, Rognum TO, et al.

Cancer Res. 1993 Dec 15;53(24):5849-52.

PMID:
8261392
33.

Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes.

Page DC, Bieker K, Brown LG, Hinton S, Leppert M, Lalouel JM, Lathrop M, Nystrom-Lahti M, de la Chapelle A, White R.

Genomics. 1987 Nov;1(3):243-56.

PMID:
2895727
34.

Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes.

Simmler MC, Rouyer F, Vergnaud G, Nyström-Lahti M, Ngo KY, de la Chapelle A, Weissenbach J.

Nature. 1985 Oct 24-30;317(6039):692-7.

PMID:
2997620

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