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Results: 1 to 20 of 57

PubMed (OMIM) for MedGen (Select 232603)


Molecular characterization of the spectrum of genomic deletions in the mismatch repair genes MSH2, MLH1, MSH6, and PMS2 responsible for hereditary nonpolyposis colorectal cancer (HNPCC).

van der Klift H, Wijnen J, Wagner A, Verkuilen P, Tops C, Otway R, Kohonen-Corish M, Vasen H, Oliani C, Barana D, Moller P, Delozier-Blanchet C, Hutter P, Foulkes W, Lynch H, Burn J, Möslein G, Fodde R.

Genes Chromosomes Cancer. 2005 Oct;44(2):123-38.


Molecular screening for the Lynch syndrome--better than family history?

Lynch HT, Lynch PM.

N Engl J Med. 2005 May 5;352(18):1920-2. No abstract available.


Screening for the Lynch syndrome (hereditary nonpolyposis colorectal cancer).

Hampel H, Frankel WL, Martin E, Arnold M, Khanduja K, Kuebler P, Nakagawa H, Sotamaa K, Prior TW, Westman J, Panescu J, Fix D, Lockman J, Comeras I, de la Chapelle A.

N Engl J Med. 2005 May 5;352(18):1851-60.


Lower cancer incidence in Amsterdam-I criteria families without mismatch repair deficiency: familial colorectal cancer type X.

Lindor NM, Rabe K, Petersen GM, Haile R, Casey G, Baron J, Gallinger S, Bapat B, Aronson M, Hopper J, Jass J, LeMarchand L, Grove J, Potter J, Newcomb P, Terdiman JP, Conrad P, Moslein G, Goldberg R, Ziogas A, Anton-Culver H, de Andrade M, Siegmund K, Thibodeau SN, Boardman LA, Seminara D.

JAMA. 2005 Apr 27;293(16):1979-85.


Carrier risk status changes resulting from mutation testing in hereditary non-polyposis colorectal cancer and hereditary breast-ovarian cancer.

Watson P, Narod SA, Fodde R, Wagner A, Lynch JF, Tinley ST, Snyder CL, Coronel SA, Riley B, Kinarsky Y, Lynch HT.

J Med Genet. 2003 Aug;40(8):591-6.


Molecular analysis of hereditary nonpolyposis colorectal cancer in the United States: high mutation detection rate among clinically selected families and characterization of an American founder genomic deletion of the MSH2 gene.

Wagner A, Barrows A, Wijnen JT, van der Klift H, Franken PF, Verkuijlen P, Nakagawa H, Geugien M, Jaghmohan-Changur S, Breukel C, Meijers-Heijboer H, Morreau H, van Puijenbroek M, Burn J, Coronel S, Kinarski Y, Okimoto R, Watson P, Lynch JF, de la Chapelle A, Lynch HT, Fodde R.

Am J Hum Genet. 2003 May;72(5):1088-100. Epub 2003 Mar 25.


Cancer risk in 348 French MSH2 or MLH1 gene carriers.

Parc Y, Boisson C, Thomas G, Olschwang S.

J Med Genet. 2003 Mar;40(3):208-13. No abstract available.


A modified multiplex PCR assay for detection of large deletions in MSH2 and MLH1.

Wang Y, Friedl W, Sengteller M, Jungck M, Filges I, Propping P, Mangold E.

Hum Mutat. 2002 Mar;19(3):279-86.


Pathogenicity of missense and splice site mutations in hMSH2 and hMLH1 mismatch repair genes: implications for genetic testing.

Cravo M, Afonso AJ, Lage P, Albuquerque C, Maia L, Lacerda C, Fidalgo P, Chaves P, Cruz C, Nobre-Leitão C.

Gut. 2002 Mar;50(3):405-12.


Frequency of hereditary non-polyposis colorectal cancer in Danish colorectal cancer patients.

Katballe N, Christensen M, Wikman FP, Ørntoft TF, Laurberg S.

Gut. 2002 Jan;50(1):43-51.


The frequency of hereditary defective mismatch repair in a prospective series of unselected colorectal carcinomas.

Cunningham JM, Kim CY, Christensen ER, Tester DJ, Parc Y, Burgart LJ, Halling KC, McDonnell SK, Schaid DJ, Walsh Vockley C, Kubly V, Nelson H, Michels VV, Thibodeau SN.

Am J Hum Genet. 2001 Oct;69(4):780-90. Epub 2001 Aug 24. Erratum in: Am J Hum Genet 2001 Nov;69(5):1160.


Deficient DNA mismatch repair: a common etiologic factor for colon cancer.

Peltomäki P.

Hum Mol Genet. 2001 Apr;10(7):735-40. Review.


Hereditary nonpolyposis colorectal cancer in 95 families: differences and similarities between mutation-positive and mutation-negative kindreds.

Scott RJ, McPhillips M, Meldrum CJ, Fitzgerald PE, Adams K, Spigelman AD, du Sart D, Tucker K, Kirk J.

Am J Hum Genet. 2001 Jan;68(1):118-127. Epub 2000 Dec 7. Erratum in: Am J Hum Genet 2001 Feb;68(2):557.


Conversion of diploidy to haploidy.

Yan H, Papadopoulos N, Marra G, Perrera C, Jiricny J, Boland CR, Lynch HT, Chadwick RB, de la Chapelle A, Berg K, Eshleman JR, Yuan W, Markowitz S, Laken SJ, Lengauer C, Kinzler KW, Vogelstein B.

Nature. 2000 Feb 17;403(6771):723-4. No abstract available.


A proven de novo germline mutation in HNPCC.

Kraus C, Kastl S, Günther K, Klessinger S, Hohenberger W, Ballhausen WG.

J Med Genet. 1999 Dec;36(12):919-21.


Strategies for screening for hereditary non-polyposis colorectal cancer.

Loukola A, de la Chapelle A, Aaltonen LA.

J Med Genet. 1999 Nov;36(11):819-22. Erratum in: J Med Genet 2000 Jun;37(6):479-80.

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