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| 1 | Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families:Implications for genetic testing显示文摘AIM: To analyze the prevalence of germline MLH1 and MSH2 gene mutations and evaluate the clinical characteristics of Hungarian hereditary non-polyposis colorectal cancer (HNPCC) families. METHODS: Thirty-six kindreds were tested for mutations using conformation sensitive gel electrophoreses, direct sequencing and also screening for genomic rearrangements applying multiplex ligation-dependent probe amplifi cation (MLPA). RESULTS: Eighteen germline mutations (50%) were identifi ed, 9 in MLH1 and 9 in MSH2. Sixteen of these sequence alterations were considered pathogenic, the remaining two were non-conservative missense alterations occurring at highly conserved functional motifs. The majority of the defi nite pathogenic mutations (81%, 13/16) were found in families fulfilling the stringent Amsterdam Ⅰ/Ⅱ criteria, including three rearrangements revealed by MLPA (two in MSH2 and one in MLH1). However, in three out of sixteen HNPCC-suspected families (19%), a disease-causing alteration could be revealed. Furthermore, nine mutations described here are novel, and none of the sequence changes were found in more than one family.CONCLUSION: Our study describes for the f irst time the prevalence and spectrum of germline mismatch repair gene mutations in Hungarian HNPCC and suspected-HNPCC families. The results presented here suggest that clinical selection criteria should be relaxed and detection of genomic rearrangements should be included in genetic screening in this population. | Janos Papp Marietta E Kovacs Edith Olah | 2007 | World Journal of Gastroenterology2007，13，19： | 9 |
| 2 | Determination of aliatoxins in food by overpressured-layer chromatographic显示文摘 | Otta K H Papp E Bagocsi B | 2000 | Journal of Chromatography A2000，882，： | 1 |
| 3 | Evidence for calreticulinattenuation of cardiac hypertrophy induced by pressure overloadand soluble agonists显示文摘 | Papp S Dziak E Kabir G | 2010 | Am J Pathol2010，176，3： | 1 |
| 4 | Determination of aflatoxins in food by overpressured-layer Chromatography显示文摘 | Otta K H Papp E Bagoesi B | 2000 | Journal of Chromatography A2000，882，： | 1 |
| 5 | Aspirin Resistance 显示文摘 | Feher G Kohai K Papp E | 2006 | DrugsAging2006，23，7： | 1 |
| 6 | Biomechanical evaluation of open suture anchor fixation versus interference screw for biceps tenodesis 显示文摘 | Papp D F Skelley N W Sutter E G | 2011 | Orthopedics2011，34，7： | 1 |
| 7 | Microchemical Journal显示文摘 | Papp E H-Otta K Zaray G Mincsovics E | 2002 | 73 : 392002，73，： | 1 |
| 8 | Increased microRNA-146a/b, TRAF6 gene and decreased IRAK1 gene expressions in the peripheral mononuelear cells of patients with Sjogren's syndrome显示文摘 | Zilahi E Tart T Papp G | 2012 | Immunol Lett2012，141，2： | 1 |
| 9 | Liquid chromato- graphic determination of aflatoxins显示文摘 | Papp E H-Otta K Zdray G | 2002 | Microchemical Journal2002，73，12： | 1 |
| 10 | Hypogastric artery ligation for intractable pelvic hemorrhage 显示文摘 | Papp Z Toth-pol E | 2006 | Obstet Gynecol Survey2006，61，4： | 1 |
| 11 | Catalytic Decomposition and Oxidation of CH3Cl on Cr2O3-Doped SnO2显示文摘 | Solymosi F Raskó J Papp E | 1995 | Applied Catalysis A1995，131，1： | 1 |
| 12 | Does glycoprotein IUa gene (P1A) polymorphism influence clopidogrel resistance? a study in older patients显示文摘 | PAPP E HAVASI V BENE J | 2007 | Drugs Aging2007，24，4： | 1 |
| 13 | Increased microRNA-146a/b,TRAF6 gene and decreased IRAK1 gene expressions in the peripheral mononuclear cells of patients with Sj(o)gren's syndrome显示文摘 | Zilahi E Tarr T Papp G | | 0，，： | 1 |
| 14 | Localization of chronic Chlamydia psittaci infection in the reproductive tract of sheep显示文摘 | Papp J R Shewen P E | 1996 | J Infect Dis1996，174，6： | 1 |
| 15 | Liquid chromatographic determination of aflatoxins显示文摘 | PAPP E H - OTFA K ZARAY G MINCSOVICS E | 2002 | Microchem J2002，73，12： | 1 |
| 16 | Evidence for nuclear processing of plant micro RNA and short interfering RNA precursors显示文摘 | Papp I Mette M F Aufsatz W Daxinger L Schauer S E | 2003 | Plant Physiol2003，132，： | 1 |
| 17 | Comparison of pa- ramyxovirus isolates from snakes, lizards and a tortoise 显示文摘 | MARSCHANG R E PAPP T FROST J W | 2009 | Virus Res2009，144，12： | 1 |
| 18 | The effects of levosimendan on the left ventricular function and protein phosphorylation in postischemic guinea pig -heart显示文摘 | Kristof E Szigeti G Papp Z | 1999 | Basic Res Cardiol1999，94，4： | 1 |
| 19 | A method for the direct analysis of drug compounds in plasma using a single restricted access mate- rial (RAM) column 显示文摘 | Papp R Mullett WM Kwong E | 2004 | J Pharm BiomedAnal2004，36，3： | 1 |
| 20 | Trisomies and other chromosome abnormalities detected after positive sonographic findings 显示文摘 | Beke A Papp C Toth-Pal E | 2005 | J Reprod Med2005，50，9： | 1 |
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