Literature DB >> 14729822

Screening for genomic rearrangements of the MMR genes must be included in the routine diagnosis of HNPCC.

F Di Fiore, F Charbonnier, C Martin, S Frerot, S Olschwang, Q Wang, C Boisson, M-P Buisine, M Nilbert, A Lindblom, T Frebourg.   

Abstract

Mesh：

Substances：

Year:  2004        PMID： 14729822      PMCID： PMC1757274          DOI： 10.1136/jmg.2003.012062

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


× No keyword cloud information.
  17 in total

1.  Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families: implications for genetic testing.

Authors:  Janos Papp; Marietta E Kovacs; Edith Olah
Journal:  World J Gastroenterol       Date:  2007-05-21       Impact factor: 5.742

2.  The three nucleotide deletion within the 3'untranslated region of MLH1 resulting in gene expression reduction is not a causal alteration in Lynch syndrome.

Authors:  J Tinat; S Baert-Desurmont; J B Latouche; S Vasseur; C Martin; E Bouvignies; T Frébourg
Journal:  Fam Cancer       Date:  2008-05-22       Impact factor: 2.375

Review 3.  Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population.

Authors:  Fawz S AlHarthi; Alya Qari; Alaa Edress; Malak Abedalthagafi
Journal:  NPJ Genom Med       Date:  2020-02-03       Impact factor: 8.617

4.  Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study.

Authors:  David C Kochan; Erin Winkler; Noralane Lindor; Gabriel Q Shaibi; Janet Olson; Pedro J Caraballo; Robert Freimuth; Joel E Pacyna; Carmen Radecki Breitkopf; Richard R Sharp; Iftikhar J Kullo
Journal:  NPJ Genom Med       Date:  2020-05-04       Impact factor: 8.617

5.  Some aspects of molecular diagnostics in Lynch syndrome.

Authors:  Grzegorz Kurzawski
Journal:  Hered Cancer Clin Pract       Date:  2006-12-15       Impact factor: 2.857

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

Authors:  Mikio Shiozawa; Yasuyuki Miyakura; Makiko Tahara; Kazue Morishima; Hidetoshi Kumano; Koji Koinuma; Hisanaga Horie; Alan T Lefor; Naohiro Sata; Yoshikazu Yasuda; Kenji Gonda; Seiichi Takenoshita; Akihiko Tamura; Noriyoshi Fukushima; Kokichi Sugano
Journal:  J Gastroenterol       Date:  2013-04-18       Impact factor: 7.527

7.  BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing.

Authors:  E Domingo; P Laiho; M Ollikainen; M Pinto; L Wang; A J French; J Westra; T Frebourg; E Espín; M Armengol; R Hamelin; H Yamamoto; R M W Hofstra; R Seruca; A Lindblom; P Peltomäki; S N Thibodeau; L A Aaltonen; S Schwartz
Journal:  J Med Genet       Date:  2004-09       Impact factor: 6.318

8.  Identification and characterization of a novel MLH1 genomic rearrangement as the cause of HNPCC in a Tunisian family: evidence for a homologous Alu-mediated recombination.

Authors:  Sana Aissi-Ben Moussa; Amel Moussa; Tonio Lovecchio; Nadia Kourda; Taoufik Najjar; Sarra Ben Jilani; Amel El Gaaied; Nicole Porchet; Mohamed Manai; Marie-Pierre Buisine
Journal:  Fam Cancer       Date:  2008-09-16       Impact factor: 2.375

9.  Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers.

Authors:  Katarina Zavodna; Tomas Krivulcik; Maria Gerykova Bujalkova; Tomas Slamka; David Martinicky; Denisa Ilencikova; Zdena Bartosova
Journal:  BMC Cancer       Date:  2009-11-20       Impact factor: 4.430

10.  Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification.

Authors:  D J Bunyan; D M Eccles; J Sillibourne; E Wilkins; N Simon Thomas; J Shea-Simonds; P J Duncan; C E Curtis; D O Robinson; J F Harvey; N C P Cross
Journal:  Br J Cancer       Date:  2004-09-13       Impact factor: 7.640
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.