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Items: 1 to 20 of 40

1.

Constitutive deficiency in DNA mismatch repair: is it time for Lynch III?

Felton KE, Gilchrist DM, Andrew SE.

Clin Genet. 2007 Jun;71(6):499-500.

PMID:
17539898
2.

Constitutive deficiency in DNA mismatch repair.

Felton KE, Gilchrist DM, Andrew SE.

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

PMID:
17539897
3.

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
4.

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
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.
7.

Epigenetic mechanisms in the pathogenesis of Lynch syndrome.

Peltomäki P.

Clin Genet. 2014 May;85(5):403-12. doi: 10.1111/cge.12349. Epub 2014 Feb 17. Review.

PMID:
24443998
8.

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
9.

Evaluation and management of Lynch syndrome.

Boland CR.

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

PMID:
18185481
10.

Molecular basis of HNPCC: mutations of MMR genes.

Papadopoulos N, Lindblom A.

Hum Mutat. 1997;10(2):89-99. Review.

PMID:
9259192
11.
12.

Mismatch repair genes founder mutations and cancer susceptibility in Lynch syndrome.

Ponti G, Castellsagué E, Ruini C, Percesepe A, Tomasi A.

Clin Genet. 2015 Jun;87(6):507-16. doi: 10.1111/cge.12529. Epub 2014 Dec 9. Review.

PMID:
25345868
13.

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
14.

Update on Lynch syndrome genomics.

Peltomäki P.

Fam Cancer. 2016 Jul;15(3):385-93. doi: 10.1007/s10689-016-9882-8. Review.

15.

Constitutional mismatch repair deficiency syndrome: clinical description in a French cohort.

Lavoine N, Colas C, Muleris M, Bodo S, Duval A, Entz-Werle N, Coulet F, Cabaret O, Andreiuolo F, Charpy C, Sebille G, Wang Q, Lejeune S, Buisine MP, Leroux D, Couillault G, Leverger G, Fricker JP, Guimbaud R, Mathieu-Dramard M, Jedraszak G, Cohen-Hagenauer O, Guerrini-Rousseau L, Bourdeaut F, Grill J, Caron O, Baert-Dusermont S, Tinat J, Bougeard G, Frébourg T, Brugières L.

J Med Genet. 2015 Nov;52(11):770-8. doi: 10.1136/jmedgenet-2015-103299. Epub 2015 Aug 28. Review.

PMID:
26318770
16.

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
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.

Mutations predisposing to hereditary nonpolyposis colorectal cancer.

Peltomäki P, de la Chapelle A.

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

PMID:
9111864
19.

[Lynch syndrome-related endometrial carcinoma].

Pang SJ, Guo DH.

Zhonghua Bing Li Xue Za Zhi. 2012 Jul;41(7):494-7. doi: 10.3760/cma.j.issn.0529-5807.2012.07.018. Review. Chinese. No abstract available.

PMID:
22932468
20.

Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch Syndrome.

Liu Q, Thompson BA, Ward RL, Hesson LB, Sloane MA.

Hum Mutat. 2016 May;37(5):417-26. doi: 10.1002/humu.22971. Epub 2016 Mar 18. Review.

PMID:
26888055

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