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Neurofibromatosis and early onset of cancers in hMLH1-deficient children.

Wang Q, Lasset C, Desseigne F, Frappaz D, Bergeron C, Navarro C, Ruano E, Puisieux A.

Cancer Res. 1999 Jan 15;59(2):294-7.


Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type.

Wang Q, Montmain G, Ruano E, Upadhyaya M, Dudley S, Liskay RM, Thibodeau SN, Puisieux A.

Hum Genet. 2003 Feb;112(2):117-23. Epub 2002 Nov 21.


[HNPCC syndrome, microsatellite instability and NF1 gene alteration].

Puisieux A.

Bull Cancer. 1999 Oct;86(10):812-4. Review. French.


[Clinical features and hMSH2/hMLH1 germline mutation screening of Chinese hereditary nonpolyposis colorectal cancer patients].

Liu SR, Wang ZJ, Zhao B, Wan YL, Huang YT.

Zhonghua Yi Xue Za Zhi. 2004 May 2;84(9):714-7. Chinese.


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.


Prevalence of germline mutations of hMLH1, hMSH2, hPMS1, hPMS2, and hMSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer.

Wang Q, Lasset C, Desseigne F, Saurin JC, Maugard C, Navarro C, Ruano E, Descos L, Trillet-Lenoir V, Bosset JF, Puisieux A.

Hum Genet. 1999 Jul-Aug;105(1-2):79-85.


Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer.

Southey MC, Jenkins MA, Mead L, Whitty J, Trivett M, Tesoriero AA, Smith LD, Jennings K, Grubb G, Royce SG, Walsh MD, Barker MA, Young JP, Jass JR, St John DJ, Macrae FA, Giles GG, Hopper JL.

J Clin Oncol. 2005 Sep 20;23(27):6524-32. Epub 2005 Aug 22.


Human MLH1 deficiency predisposes to hematological malignancy and neurofibromatosis type 1.

Ricciardone MD, Ozçelik T, Cevher B, Ozdağ H, Tuncer M, Gürgey A, Uzunalimoğlu O, Cetinkaya H, Tanyeli A, Erken E, Oztürk M.

Cancer Res. 1999 Jan 15;59(2):290-3.


Mutations of hMLH1 and hMSH2 in patients with suspected hereditary nonpolyposis colorectal cancer: correlation with microsatellite instability and abnormalities of mismatch repair protein expression.

Scartozzi M, Bianchi F, Rosati S, Galizia E, Antolini A, Loretelli C, Piga A, Bearzi I, Cellerino R, Porfiri E.

J Clin Oncol. 2002 Mar 1;20(5):1203-8.


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.


Characterization of mutator phenotype in familial colorectal cancer patients not fulfilling amsterdam criteria.

Kim JC, Lee KH, Ka IH, Koo KH, Roh SA, Kim HC, Yu CS, Kim TW, Chang HM, Gong GY, Kim JS.

Clin Cancer Res. 2004 Sep 15;10(18 Pt 1):6159-68.


Mismatch repair gene defects contribute to the genetic basis of double primary cancers of the colorectum and endometrium.

Millar AL, Pal T, Madlensky L, Sherman C, Temple L, Mitri A, Cheng H, Marcus V, Gallinger S, Redston M, Bapat B, Narod S.

Hum Mol Genet. 1999 May;8(5):823-9.


Association between family history and mismatch repair in colorectal cancer.

Coggins RP, Cawkwell L, Bell SM, Crockford GP, Quirke P, Finan PJ, Bishop DT.

Gut. 2005 May;54(5):636-42.


Unbalanced germ-line expression of hMLH1 and hMSH2 alleles in hereditary nonpolyposis colorectal cancer.

Curia MC, Palmirotta R, Aceto G, Messerini L, Verì MC, Crognale S, Valanzano R, Ficari F, Fracasso P, Stigliano V, Tonelli F, Casale V, Guadagni F, Battista P, Mariani-Costantini R, Cama A.

Cancer Res. 1999 Aug 1;59(15):3570-5.


Germline, somatic and epigenetic events underlying mismatch repair deficiency in colorectal and HNPCC-related cancers.

Yuen ST, Chan TL, Ho JW, Chan AS, Chung LP, Lam PW, Tse CW, Wyllie AH, Leung SY.

Oncogene. 2002 Oct 24;21(49):7585-92.


Immunoassay for wild-type protein in lymphocytes predicts germline mutations in patients at risk for hereditary colorectal cancer.

Fields JZ, Gao Z, Gao Z, Lewis M, Maimonis P, Harvey J, Lynch HT, Boman BM.

J Lab Clin Med. 2004 Jan;143(1):59-66.


Gastrointestinal cancers and neurofibromatosis type 1 features in children with a germline homozygous MLH1 mutation.

Gallinger S, Aronson M, Shayan K, Ratcliffe EM, Gerstle JT, Parkin PC, Rothenmund H, Croitoru M, Baumann E, Durie PR, Weksberg R, Pollett A, Riddell RH, Ngan BY, Cutz E, Lagarde AE, Chan HS.

Gastroenterology. 2004 Feb;126(2):576-85.


Clinical impact of molecular genetic diagnosis, genetic counseling, and management of hereditary cancer. Part II: Hereditary nonpolyposis colorectal carcinoma as a model.

Lynch HT, Watson P, Shaw TG, Lynch JF, Harty AE, Franklin BA, Kapler CR, Tinley ST, Liu B, Lerman C.

Cancer. 1999 Dec 1;86(11 Suppl):2457-63.

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