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Items: 1 to 20 of 92

1.

Partial duplication of MSH2 spanning exons 7 through 14 in Lynch syndrome.

Shiozawa M, Miyakura Y, Tahara M, Morishima K, Kumano H, Koinuma K, Horie H, Lefor AT, Sata N, Yasuda Y, Gonda K, Takenoshita S, Tamura A, Fukushima N, Sugano K.

J Gastroenterol. 2013 Jun;48(6):770-6. doi: 10.1007/s00535-013-0804-3. Epub 2013 Apr 18.

PMID:
23595612
2.

Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype.

Pérez-Cabornero L, Borrás Flores E, Infante Sanz M, Velasco Sampedro E, Acedo Becares A, Lastra Aras E, Cuevas González J, Pineda Riu M, Ramón y Cajal Asensio T, Capellá Munar G, Miner Pino C, Durán Domínguez M.

Cancer Prev Res (Phila). 2011 Oct;4(10):1546-55. doi: 10.1158/1940-6207.CAPR-11-0227. Epub 2011 Jul 21.

3.

Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.

Pérez-Cabornero L, Infante Sanz M, Velasco Sampedro E, Lastra Aras E, Acedo Becares A, Miner Pino C, Durán Domínguez M.

Cancer Prev Res (Phila). 2011 Oct;4(10):1556-62. doi: 10.1158/1940-6207.CAPR-11-0080. Epub 2011 Jul 26.

4.

Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer.

Baert-Desurmont S, Buisine MP, Bessenay E, Frerot S, Lovecchio T, Martin C, Olschwang S, Wang Q, Frebourg T.

Eur J Hum Genet. 2007 Mar;15(3):383-6. Epub 2007 Jan 17.

5.

High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country.

Martínez-Bouzas C, Ojembarrena E, Beristain E, Errasti J, Viguera N, Tejada Minguéz MI.

Cancer Lett. 2007 Oct 8;255(2):295-9. Epub 2007 Jun 19.

PMID:
17582678
6.

Deletions removing the last exon of TACSTD1 constitute a distinct class of mutations predisposing to Lynch syndrome.

Kovacs ME, Papp J, Szentirmay Z, Otto S, Olah E.

Hum Mutat. 2009 Feb;30(2):197-203. doi: 10.1002/humu.20942.

PMID:
19177550
7.

Novel MLH1 duplication identified in Colombian families with Lynch syndrome.

Alonso-Espinaco V, Giráldez MD, Trujillo C, van der Klift H, Muñoz J, Balaguer F, Ocaña T, Madrigal I, Jones AM, Echeverry MM, Velez A, Tomlinson I, Milà M, Wijnen J, Carvajal-Carmona L, Castells A, Castellví-Bel S.

Genet Med. 2011 Feb;13(2):155-60. doi: 10.1097/GIM.0b013e318202e10b.

PMID:
21233718
8.

Hereditary nonpolyposis colorectal cancer: pitfalls in deletion screening in MSH2 and MLH1 genes.

Wehner M, Mangold E, Sengteller M, Friedrichs N, Aretz S, Friedl W, Propping P, Pagenstecher C.

Eur J Hum Genet. 2005 Aug;13(8):983-6.

9.

Confirmation of single exon deletions in MLH1 and MSH2 using quantitative polymerase chain reaction.

Vaughn CP, Lyon E, Samowitz WS.

J Mol Diagn. 2008 Jul;10(4):355-60. doi: 10.2353/jmoldx.2008.080021. Epub 2008 Jun 13.

10.
11.

[Familial and genetic study in a large Chinese kindred with hereditary nonpolyposis colorectal cancer].

Li TG, Liu XP, Zheng D, Sun JC, Li J, Tan ZP, Qin ZQ.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Apr;24(2):227-9. Chinese.

PMID:
17407090
12.

Genomic rearrangements in MSH2 and MLH1 are rare mutational events in Spanish patients with hereditary nonpolyposis colorectal cancer.

Castellví-Bel S, Castells A, Strunk M, Ferrández A, Piazuelo E, Milà M, Piñol V, Rodríguez-Moranta F, Andreu M, Lanas A, Piqué JM; Gastrointestinal Oncology Group of the Spanish Gastroenterological Association.

Cancer Lett. 2005 Jul 8;225(1):93-8.

PMID:
16003840
13.

Novel germline MLH1 and MSH2 mutations in Latvian Lynch syndrome families.

Bērziņa D, Irmejs A, Kalniete D, Borošenko V, Nakazawa-Miklaševiča M, Rībenieks K, Trofimovičs G, Gardovskis J, Miklaševičs E.

Exp Oncol. 2012;34(1):49-52.

PMID:
22453149
14.

Genomic rearrangements in MSH2, MLH1 or MSH6 are rare in HNPCC patients carrying point mutations.

Pistorius S, Görgens H, Plaschke J, Hoehl R, Krüger S, Engel C, Saeger HD, Schackert HK.

Cancer Lett. 2007 Apr 8;248(1):89-95. Epub 2006 Jul 11.

PMID:
16837128
15.

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
16.

A missense germline mutation in exon 7 of the MSH2 gene in a HNPCC family from center-Italy.

Bianchi F, Galizia E, Porfiri E, Belvederesi L, Catalani R, Loretelli C, Bracci R, Bearzi I, Turchi C, Viel A, Cellerino R.

Fam Cancer. 2007;6(1):97-102.

PMID:
17165155
17.

Epitope-positive truncating MLH1 mutation and loss of PMS2: implications for IHC-directed genetic testing for Lynch syndrome.

Zighelboim I, Powell MA, Babb SA, Whelan AJ, Schmidt AP, Clendenning M, Senter L, Thibodeau SN, de la Chapelle A, Goodfellow PJ.

Fam Cancer. 2009;8(4):501-4. doi: 10.1007/s10689-009-9276-2. Epub 2009 Aug 12.

18.

Germline novel MSH2 deletions and a founder MSH2 deletion associated with anticipation effects in HNPCC.

Stella A, Surdo NC, Lastella P, Barana D, Oliani C, Tibiletti MG, Viel A, Natale C, Piepoli A, Marra G, Guanti G.

Clin Genet. 2007 Feb;71(2):130-9.

PMID:
17250661
19.

A novel MSH2 mutation in a Chinese family with hereditary non-polyposis colorectal cancer.

Zheng D, Li T, Liu X, Hu W, Chen H, Yang Y.

Int J Colorectal Dis. 2007 Aug;22(8):875-9. Epub 2007 Mar 1.

PMID:
17333219
20.

[The first molecular analysis of a Hungarian HNPCC family: a novel MSH2 germline mutation].

Czakó L, Tiszlavicz L, Takács R, Baradnay G, Lonovics J, Cserni G, Závodná K, Bartosova Z.

Orv Hetil. 2005 May 15;146(20):1009-16. Hungarian.

PMID:
15945244
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