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Items: 1 to 20 of 83

1.

Anaplastic oligodendroglioma in an adolescent with Lynch syndrome.

Heath JA, Ng J, Beshay V, Coleman L, Lo P, Amor DJ.

Pediatr Blood Cancer. 2013 Jun;60(6):E13-5. doi: 10.1002/pbc.24424. Epub 2012 Dec 19.

PMID:
23255519
2.

Atypical HNPCC owing to MSH6 germline mutations: analysis of a large Dutch pedigree.

Wagner A, Hendriks Y, Meijers-Heijboer EJ, de Leeuw WJ, Morreau H, Hofstra R, Tops C, Bik E, Bröcker-Vriends AH, van Der Meer C, Lindhout D, Vasen HF, Breuning MH, Cornelisse CJ, van Krimpen C, Niermeijer MF, Zwinderman AH, Wijnen J, Fodde R.

J Med Genet. 2001 May;38(5):318-22.

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.

Functional analysis of MSH6 mutations linked to kindreds with putative hereditary non-polyposis colorectal cancer syndrome.

Kariola R, Raevaara TE, Lönnqvist KE, Nyström-Lahti M.

Hum Mol Genet. 2002 May 15;11(11):1303-10.

PMID:
12019211
5.

Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosus.

Rahner N, Höefler G, Högenauer C, Lackner C, Steinke V, Sengteller M, Friedl W, Aretz S, Propping P, Mangold E, Walldorf C.

Am J Med Genet A. 2008 May 15;146A(10):1314-9. doi: 10.1002/ajmg.a.32210. Review.

PMID:
18409202
6.

A homozygous MSH6 mutation in a child with café-au-lait spots, oligodendroglioma and rectal cancer.

Menko FH, Kaspers GL, Meijer GA, Claes K, van Hagen JM, Gille JJ.

Fam Cancer. 2004;3(2):123-7.

PMID:
15340263
7.

Two mismatch repair gene mutations found in a colon cancer patient--which one is pathogenic?

Kariola R, Otway R, Lönnqvist KE, Raevaara TE, Macrae F, Vos YJ, Kohonen-Corish M, Hofstra RM, Nyström-Lahti M.

Hum Genet. 2003 Feb;112(2):105-9. Epub 2002 Nov 21.

PMID:
12522549
8.

Mismatch repair genes in Lynch syndrome: a review.

Silva FC, Valentin MD, Ferreira Fde O, Carraro DM, Rossi BM.

Sao Paulo Med J. 2009 Jan;127(1):46-51. Review.

9.

Novel germline mutation (300-305delAGTTGA) in the human MSH2 gene in hereditary non-polyposis colorectal cancer (HNPCC).

Glasl S, Papatheodorou L, Baretton G, Jung C, Gross M.

Hum Mutat. 2000 Jul;16(1):91-2.

PMID:
10874318
10.

Compound heterozygosity for two MSH6 mutations in a patient with early onset of HNPCC-associated cancers, but without hematological malignancy and brain tumor.

Plaschke J, Linnebacher M, Kloor M, Gebert J, Cremer FW, Tinschert S, Aust DE, von Knebel Doeberitz M, Schackert HK.

Eur J Hum Genet. 2006 May;14(5):561-6.

11.

[Study on the germline mutation of MSH6 gene in Chinese hereditary nonpolyposis colorectal cancer pedigrees using PCR based sequencing].

Yan SY, Zhou XY, Cai SJ, Yu BH, Zhang TM, Li XM, Lu YM, Zhou HH, Mo SJ, Du X, Shi DR.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):640-5. Chinese.

PMID:
18067074
12.

Lynch syndrome in a 15-year-old boy.

Bodas A, Pérez-Segura P, Maluenda C, Caldés T, Olivera E, Díaz-Rubio E.

Eur J Pediatr. 2008 Oct;167(10):1213-5. doi: 10.1007/s00431-007-0650-5. Epub 2008 Jan 4.

PMID:
18183421
13.
14.

Eight novel MSH6 germline mutations in patients with familial and nonfamilial colorectal cancer selected by loss of protein expression in tumor tissue.

Plaschke J, Krüger S, Dietmaier W, Gebert J, Sutter C, Mangold E, Pagenstecher C, Holinski-Feder E, Schulmann K, Möslein G, Rüschoff J, Engel C, Evans G, Schackert HK; German HNPCC Consortium.

Hum Mutat. 2004 Mar;23(3):285.

PMID:
14974087
15.

Two Swedish founder MSH6 mutations, one nonsense and one missense, conferring high cumulative risk of Lynch syndrome.

Cederquist K, Emanuelsson M, Wiklund F, Golovleva I, Palmqvist R, Grönberg H.

Clin Genet. 2005 Dec;68(6):533-41.

PMID:
16283884
16.

A rare MSH2 mutation causes defective binding to hMSH6, normal hMSH2 staining, and loss of hMSH6 at advanced cancer stage.

Loconte DC, Patruno M, Lastella P, Di Gregorio C, Grossi V, Forte G, Ingravallo G, Varvara D, Bagnulo R, Simone C, Resta N, Stella A.

Hum Pathol. 2014 Oct;45(10):2162-7. doi: 10.1016/j.humpath.2014.05.019. Epub 2014 Jun 30.

PMID:
25106712
17.

Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.

Wielders EA, Houlleberghs H, Isik G, te Riele H.

PLoS One. 2013 Sep 10;8(9):e74766. doi: 10.1371/journal.pone.0074766. eCollection 2013.

18.

Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1.

Krüger S, Kinzel M, Walldorf C, Gottschling S, Bier A, Tinschert S, von Stackelberg A, Henn W, Görgens H, Boue S, Kölble K, Büttner R, Schackert HK.

Eur J Hum Genet. 2008 Jan;16(1):62-72. Epub 2007 Sep 12.

19.

A putative Lynch syndrome family carrying MSH2 and MSH6 variants of uncertain significance-functional analysis reveals the pathogenic one.

Kantelinen J, Hansen TV, Kansikas M, Krogh LN, Korhonen MK, Ollila S, Nyström M, Gerdes AM, Kariola R.

Fam Cancer. 2011 Sep;10(3):515-20. doi: 10.1007/s10689-011-9436-z.

PMID:
21431882
20.

Association of low-risk MSH3 and MSH2 variant alleles with Lynch syndrome: probability of synergistic effects.

Duraturo F, Liccardo R, Cavallo A, De Rosa M, Grosso M, Izzo P.

Int J Cancer. 2011 Oct 1;129(7):1643-50. doi: 10.1002/ijc.25824. Epub 2011 Apr 25.

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