Literature DB >> 12362047

Germline MSH2 and MLH1 mutational spectrum in HNPCC families from Poland and the Baltic States.

G Kurzawski1, J Suchy, J Kładny, K Safranow, A Jakubowska, P Elsakov, V Kucinskas, J Gardovski, A Irmejs, H Sibul, T Huzarski, T Byrski, T Debniak, C Cybulski, J Gronwald, O Oszurek, J Clark, S Góźdź, S Niepsuj, R Słomski, A Pławski, A Łacka-Wojciechowska, A Rozmiarek, Ł Fiszer-Maliszewska, M Bebenek, D Sorokin, M Stawicka, D Godlewski, P Richter, I Brozek, B Wysocka, A Jawień, Z Banaszkiewicz, J Kowalczyk, D Czudowska, P E Goretzki, G Moeslein, J Lubiński.   

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Year:  2002        PMID： 12362047      PMCID： PMC1734972          DOI： 10.1136/jmg.39.10.e65

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


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  15 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.  A novel and rapid method of determining the effect of unclassified MLH1 genetic variants on differential allelic expression.

Authors:  Sheron Perera; Brian Li; Soultana Tsitsikotas; Lily Ramyar; Aaron Pollett; Kara Semotiuk; Bharati Bapat
Journal:  J Mol Diagn       Date:  2010-09-23       Impact factor: 5.568

3.  Two germline alterations in mismatch repair genes found in a HNPCC patient with poor family history.

Authors:  Enikô Kámory; Miklós Tanyi; Orsolya Kolacsek; Judit Olasz; László Tóth; László Damjanovich; Orsolya Csuka
Journal:  Pathol Oncol Res       Date:  2006-12-25       Impact factor: 3.201

4.  Combined iPLEX and TaqMan assays to screen for 45 common mutations in Lynch syndrome and FAP patients.

Authors:  Dagmara Dymerska; Pablo Serrano-Fernández; Janina Suchy; Andrzej Pławski; Ryszard Słomski; Krzysztof Kaklewski; Rodney J Scott; Jacek Gronwald; Józef Kładny; Tomasz Byrski; Tomasz Huzarski; Jan Lubiński; Grzegorz Kurzawski
Journal:  J Mol Diagn       Date:  2009-12-10       Impact factor: 5.568

5.  The 3020insC Allele of NOD2 Predisposes to Cancers of Multiple Organs.

Authors:  Jan Lubiński; Tomasz Huzarski; Grzegorz Kurzawski; Janina Suchy; Bartłomiej Masojć; Marek Mierzejewski; Marcin Lener; Wenancjusz Domagała; Maria Chosia; Urszula Teodorczyk; Krzysztof Medrek; Tadeusz Debniak; Elzbieta Złowocka; Jacek Gronwald; Tomasz Byrski; Ewa Grabowska; Katarzyna Nej; Anna Szymańska; Jolanta Szymańska; Joanna Matyjasik; Cezary Cybulski; Anna Jakubowska; Bohdan Górski; Steven A Narod
Journal:  Hered Cancer Clin Pract       Date:  2005-03-15       Impact factor: 2.857

6.  Some aspects of molecular diagnostics in Lynch syndrome.

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

7.  Human MutL homolog (MLH1) function in DNA mismatch repair: a prospective screen for missense mutations in the ATPase domain.

Authors:  Aaron R Ellison; Joan Lofing; Grant A Bitter
Journal:  Nucleic Acids Res       Date:  2004-10-08       Impact factor: 16.971

8.  MLH1 promoter hypermethylation: are you absolutely sure about the absence of MLH1 germline mutation? About a new case.

Authors:  Caroline Kientz; Fabienne Prieur; Alix Clemenson; Marie-Odile Joly; Marie-Laure Stachowicz; Jessie Auclair; Valéry Attignon; Renaud Schiappa; Qing Wang
Journal:  Fam Cancer       Date:  2019-11-19       Impact factor: 2.375

9.  Recurrent APC gene mutations in Polish FAP families.

Authors:  Andrzej Pławski; Marta Podralska; Ryszard Słomski
Journal:  Hered Cancer Clin Pract       Date:  2007-12-15       Impact factor: 2.857

10.  DNA and RNA analyses in detection of genetic predisposition to cancer.

Authors:  Joanna Matyjasik; Bartlomiej Masojc; Grzegorz Kurzawski
Journal:  Hered Cancer Clin Pract       Date:  2008-06-15       Impact factor: 2.857
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