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Items: 1 to 20 of 34

1.

Heterozygous mutations in PMS2 cause hereditary nonpolyposis colorectal carcinoma (Lynch syndrome).

Hendriks YM, Jagmohan-Changur S, van der Klift HM, Morreau H, van Puijenbroek M, Tops C, van Os T, Wagner A, Ausems MG, Gomez E, Breuning MH, Bröcker-Vriends AH, Vasen HF, Wijnen JT.

Gastroenterology. 2006 Feb;130(2):312-22.

PMID:
16472587
2.
3.

Mutations predisposing to hereditary nonpolyposis colorectal cancer.

Peltomäki P, de la Chapelle A.

Adv Cancer Res. 1997;71:93-119. Review.

PMID:
9111864
4.

Phenotype associated with recessively inherited mutations in DNA mismatch repair (MMR) genes.

de Vos M, Hayward B, Bonthron DT, Sheridan E.

Biochem Soc Trans. 2005 Aug;33(Pt 4):718-20. Review.

PMID:
16042583
5.

A review of mismatch repair gene transcripts: issues for interpretation of mRNA splicing assays.

Thompson BA, Martins A, Spurdle AB.

Clin Genet. 2015 Feb;87(2):100-8. doi: 10.1111/cge.12450. Epub 2014 Jul 26. Review.

PMID:
24989436
6.

Mismatch repair gene deficiency and genetic anticipation in Lynch syndrome: myth or reality?

Ponti G, Ruini C, Tomasi A.

Dis Colon Rectum. 2015 Jan;58(1):141-2. doi: 10.1097/DCR.0000000000000275. Review. No abstract available.

PMID:
25489705
7.

Constitutional (germline) MLH1 epimutation as an aetiological mechanism for hereditary non-polyposis colorectal cancer.

Hitchins MP, Ward RL.

J Med Genet. 2009 Dec;46(12):793-802. doi: 10.1136/jmg.2009.068122. Epub 2009 Jun 29. Review.

PMID:
19564652
8.

Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge.

Ponti G, Manfredini M, Tomasi A, Pellacani G.

Gene. 2016 Sep 10;589(2):127-32. doi: 10.1016/j.gene.2015.06.078. Epub 2015 Jul 2. Review.

PMID:
26143115
9.

Hereditary nonpolyposis colorectal cancer and related conditions.

Lucci-Cordisco E, Zito I, Gensini F, Genuardi M.

Am J Med Genet A. 2003 Nov 1;122A(4):325-34. Review.

PMID:
14518071
10.

Anticipating phenotypic differences from genetic mutations.

You YN.

Dis Colon Rectum. 2015 Jan;58(1):143-4. doi: 10.1097/DCR.0000000000000271. Review. No abstract available.

PMID:
25489706
11.

Evaluation and management of Lynch syndrome.

Boland CR.

Clin Adv Hematol Oncol. 2007 Nov;5(11):851,873. Review. No abstract available.

PMID:
18185481
12.

PMS2 monoallelic mutation carriers: the known unknown.

Goodenberger ML, Thomas BC, Riegert-Johnson D, Boland CR, Plon SE, Clendenning M, Win AK, Senter L, Lipkin SM, Stadler ZK, Macrae FA, Lynch HT, Weitzel JN, de la Chapelle A, Syngal S, Lynch P, Parry S, Jenkins MA, Gallinger S, Holter S, Aronson M, Newcomb PA, Burnett T, Le Marchand L, Pichurin P, Hampel H, Terdiman JP, Lu KH, Thibodeau S, Lindor NM.

Genet Med. 2016 Jan;18(1):13-9. doi: 10.1038/gim.2015.27. Epub 2015 Apr 9. Review.

13.

Constitutive deficiency in DNA mismatch repair.

Felton KE, Gilchrist DM, Andrew SE.

Clin Genet. 2007 Jun;71(6):483-98. Review.

PMID:
17539897
14.

Genetics of hereditary nonpolyposis colorectal cancer.

Akrami SM.

Arch Iran Med. 2006 Oct;9(4):381-9. Review.

PMID:
17061614
15.
16.

Interpretation of genetic testing for lynch syndrome in patients with putative familial colorectal cancer.

Rybak C, Hall MJ.

J Natl Compr Canc Netw. 2011 Nov;9(11):1311-20. Review.

PMID:
22056658
17.

Constitutional mismatch repair-deficiency syndrome: have we so far seen only the tip of an iceberg?

Wimmer K, Etzler J.

Hum Genet. 2008 Sep;124(2):105-22. doi: 10.1007/s00439-008-0542-4. Epub 2008 Aug 18. Review.

PMID:
18709565
18.

Establishing a clinical and molecular diagnosis for hereditary colorectal cancer syndromes: Present tense, future perfect?

Jansen M, Menko FH, Brosens LA, Giardiello FM, Offerhaus GJ.

Gastrointest Endosc. 2014 Dec;80(6):1145-55. doi: 10.1016/j.gie.2014.07.049. Review. No abstract available.

PMID:
25434663
19.

Inheritance of epigenetic aberrations (constitutional epimutations) in cancer susceptibility.

Hitchins MP.

Adv Genet. 2010;70:201-43. doi: 10.1016/B978-0-12-380866-0.60008-3. Review.

PMID:
20920750
20.

Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: case series, review and follow-up guidelines.

Herkert JC, Niessen RC, Olderode-Berends MJ, Veenstra-Knol HE, Vos YJ, van der Klift HM, Scheenstra R, Tops CM, Karrenbeld A, Peters FT, Hofstra RM, Kleibeuker JH, Sijmons RH.

Eur J Cancer. 2011 May;47(7):965-82. doi: 10.1016/j.ejca.2011.01.013. Epub 2011 Mar 4. Review.

PMID:
21376568

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