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Items: 1 to 20 of 124

1.

Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome.

Takahashi M, Furukawa Y, Shimodaira H, Sakayori M, Moriya T, Moriya Y, Nakamura Y, Ishioka C.

Fam Cancer. 2012 Dec;11(4):559-64. doi: 10.1007/s10689-012-9547-1.

PMID:
22766992
2.

A novel deletion in the splice donor site of MLH1 exon 6 in a Japanese colon cancer patient with Lynch syndrome.

Yamaguchi J, Sato Y, Kita M, Nomura S, Yamamoto N, Kato Y, Ishikawa Y, Arai M.

Jpn J Clin Oncol. 2015 Oct;45(10):993-7. doi: 10.1093/jjco/hyv103. Epub 2015 Jul 16.

PMID:
26185136
3.

Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay.

Naruse H, Ikawa N, Yamaguchi K, Nakamura Y, Arai M, Ishioka C, Sugano K, Tamura K, Tomita N, Matsubara N, Yoshida T, Moriya Y, Furukawa Y.

Fam Cancer. 2009;8(4):509-17. doi: 10.1007/s10689-009-9280-6. Epub 2009 Aug 15.

PMID:
19685281
4.

Germline MLH1 and MSH2 mutations in Italian pancreatic cancer patients with suspected Lynch syndrome.

Gargiulo S, Torrini M, Ollila S, Nasti S, Pastorino L, Cusano R, Bonelli L, Battistuzzi L, Mastracci L, Bruno W, Savarino V, Sciallero S, Borgonovo G, Nyström M, Bianchi-Scarrà G, Mareni C, Ghiorzo P.

Fam Cancer. 2009;8(4):547-53. doi: 10.1007/s10689-009-9285-1.

PMID:
19728162
5.

De novo constitutional MLH1 epimutations confer early-onset colorectal cancer in two new sporadic Lynch syndrome cases, with derivation of the epimutation on the paternal allele in one.

Goel A, Nguyen TP, Leung HC, Nagasaka T, Rhees J, Hotchkiss E, Arnold M, Banerji P, Koi M, Kwok CT, Packham D, Lipton L, Boland CR, Ward RL, Hitchins MP.

Int J Cancer. 2011 Feb 15;128(4):869-78. doi: 10.1002/ijc.25422.

6.

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
7.

An intronic mutation in MLH1 associated with familial colon and breast cancer.

Bianchi F, Raponi M, Piva F, Viel A, Bearzi I, Galizia E, Bracci R, Belvederesi L, Loretelli C, Brugiati C, Corradini F, Baralle D, Cellerino R.

Fam Cancer. 2011 Mar;10(1):27-35. doi: 10.1007/s10689-010-9371-4.

8.

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.

Petersen SM, Dandanell M, Rasmussen LJ, Gerdes AM, Krogh LN, Bernstein I, Okkels H, Wikman F, Nielsen FC, Hansen TV.

BMC Med Genet. 2013 Oct 3;14:103. doi: 10.1186/1471-2350-14-103.

9.

Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients.

Zahary MN, Kaur G, Abu Hassan MR, Singh H, Naik VR, Ankathil R.

World J Gastroenterol. 2012 Feb 28;18(8):814-20. doi: 10.3748/wjg.v18.i8.814.

10.

MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer families.

Zhou HH, Yan SY, Zhou XY, Du X, Zhang TM, Cai X, Lu YM, Cai SJ, Shi DR.

World J Gastroenterol. 2008 Dec 28;14(48):7329-34.

11.

Confirmed pathogenic effect of a splice site variation in the MLH1 gene causing Lynch syndrome.

Ruiz JL, Alvarez-Cubero MJ, Rosado FF, Espín EM, Bernal CE.

Int J Colorectal Dis. 2014 Aug;29(8):1019-20. doi: 10.1007/s00384-014-1890-2. Epub 2014 May 9. No abstract available.

PMID:
24811117
12.

Spectrum of MLH1 and MSH2 mutations in Chilean families with suspected Lynch syndrome.

Alvarez K, Hurtado C, Hevia MA, Wielandt AM, de la Fuente M, Church J, Carvallo P, López-Köstner F.

Dis Colon Rectum. 2010 Apr;53(4):450-9. doi: 10.1007/DCR.0b013e3181d0c114.

PMID:
20305446
13.

Microsatellite instability and novel mismatch repair gene mutations in northern Chinese population with hereditary non-polyposis colorectal cancer.

Sheng JQ, Chan TL, Chan YW, Huang JS, Chen JG, Zhang MZ, Guo XL, Mu H, Chan AS, Li SR, Yuen ST, Leung SY.

Chin J Dig Dis. 2006;7(4):197-205.

PMID:
17054581
14.

Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation.

Bouzourene H, Hutter P, Losi L, Martin P, Benhattar J.

Fam Cancer. 2010 Jun;9(2):167-72. doi: 10.1007/s10689-009-9302-4.

PMID:
19949877
15.

Detection of allelic imbalance in MLH1 expression by pyrosequencing serves as a tool for the identification of germline defects in Lynch syndrome.

Kwok CT, Ward RL, Hawkins NJ, Hitchins MP.

Fam Cancer. 2010 Sep;9(3):345-56. doi: 10.1007/s10689-009-9314-0.

PMID:
20063070
16.

Lynch syndrome (hereditary nonpolyposis colorectal cancer) diagnostics.

Lagerstedt Robinson K, Liu T, Vandrovcova J, Halvarsson B, Clendenning M, Frebourg T, Papadopoulos N, Kinzler KW, Vogelstein B, Peltomäki P, Kolodner RD, Nilbert M, Lindblom A.

J Natl Cancer Inst. 2007 Feb 21;99(4):291-9.

PMID:
17312306
17.

Cancer risks associated with germline mutations in MLH1, MSH2, and MSH6 genes in Lynch syndrome.

Bonadona V, Bonaïti B, Olschwang S, Grandjouan S, Huiart L, Longy M, Guimbaud R, Buecher B, Bignon YJ, Caron O, Colas C, Noguès C, Lejeune-Dumoulin S, Olivier-Faivre L, Polycarpe-Osaer F, Nguyen TD, Desseigne F, Saurin JC, Berthet P, Leroux D, Duffour J, Manouvrier S, Frébourg T, Sobol H, Lasset C, Bonaïti-Pellié C; French Cancer Genetics Network..

JAMA. 2011 Jun 8;305(22):2304-10. doi: 10.1001/jama.2011.743.

PMID:
21642682
18.

Prevalence of mismatch repair-deficient crypt foci in Lynch syndrome: a pathological study.

Kloor M, Huth C, Voigt AY, Benner A, Schirmacher P, von Knebel Doeberitz M, Bläker H.

Lancet Oncol. 2012 Jun;13(6):598-606. doi: 10.1016/S1470-2045(12)70109-2. Epub 2012 May 1.

PMID:
22552011
19.

Detection of mismatch repair gene germline mutation carrier among Chinese population with colorectal cancer.

Jin HY, Liu X, Li VK, Ding Y, Yang B, Geng J, Lai R, Ding S, Ni M, Zhao R.

BMC Cancer. 2008 Feb 7;8:44. doi: 10.1186/1471-2407-8-44.

20.

Germline hypermethylation of MLH1 and EPCAM deletions are a frequent cause of Lynch syndrome.

Niessen RC, Hofstra RM, Westers H, Ligtenberg MJ, Kooi K, Jager PO, de Groote ML, Dijkhuizen T, Olderode-Berends MJ, Hollema H, Kleibeuker JH, Sijmons RH.

Genes Chromosomes Cancer. 2009 Aug;48(8):737-44. doi: 10.1002/gcc.20678.

PMID:
19455606

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