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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 | β-cyclodextrin enhanced biological detoxification of industrial wastewaters显示文摘 | Olah J Cserhati T Szejtli J | 1998 | Water Research1998，22，11： | 2 |
| 3 | Interaction of TPPP/p25 pro-tein with glyceraldehyde-3-phosphate dehydrogenase and their co-localization in Lewy bodies显示文摘 | Olah J Tokesi N Vincze O | 2006 | FEBS Lett2006，580，： | 1 |
| 4 | The simultaneous determination of mixtures of drug candidates by liquid chromatography/atmospheric pressure chemical ionization mass spectrometry as an in vivo drug screening procedure显示文摘 | Olah TV McLoughlin DA Gilbert JD | 1997 | Rapid Commua Mass Spectrom1997，11，1： | 1 |
| 5 | Correlation of alcohol consumption and pancreatitis in Hungary 显示文摘 | OLAH A BELAGYI T WELLNER I | 2000 | Magy Seb2000，53，1： | 1 |
| 6 | Esophageal tonsil: a novel gut-associated lymphoid organ显示文摘 | Olah I Nagy N Magyar A | 2003 | Poult Sci2003，82，5： | 1 |
| 7 | Nitration of strongly deactivated aro- matics with superacidic mixed nitric-triflatoboric acid (HNO3aCFaSO3H-B (O3SCF3)3) 显示文摘 | OLAH G A | 1995 | Journal of Organic Chemistry1995，60，22： | 1 |
| 8 | Mechanistic investigation of ionization suppression in electrospray ionization显示文摘 | Richard King Ryan Bonfiglio Carmen Fernandez-Metzler Cynthia Miller-Stein Timothy Olah | 2000 | Journal of the American Society for Mass Spectrometry2000，，11： | 1 |
| 9 | Comparison of the effectiveness of two internationally recommended screening methods for the diagnosis of gestational diabetes显示文摘 | Salamon M Soos Z Olah R | 2013 | Orv Hetil2013，154，20： | 1 |
| 10 | Pancreatic transection from blunt abdominal trauma:early versus delayed diagnosis and surgical management显示文摘 | Olah A Issekutz A Haulik L | 2003 | Dig Surg2003，20，5： | 1 |
| 11 | Anthracycline antibiotics induce acute renal tubular toxicityin children with cancer 显示文摘 | Bardi E Bobok I V Olah A | 2007 | Pathol Oneol Res2007，13，3： | 1 |
| 12 | Elevated expression of matrix metalloptroteinase -9 and fibronectin concentration in recurrent epitheli- al ovarian cancer 显示文摘 | Demeter A Szirmai K Olah J | 2004 | Orv Hetil2004，145，31： | 1 |
| 13 | Acute Pancreatitis in five European countries: etiology and mortality 显示文摘 | Gullo L Migliori M Olah A | 2002 | Pancreas2002，24，3： | 1 |
| 14 | Beyond Qil and Gas: the Methand Economy 显示文摘 | OLAH G A | 2005 | Angew Chem Int Ed2005，44，： | 1 |
| 15 | Structure-activity relationships of 1,4-dihydropyridines that act as enhancers of the vanilloid re- ceptor 1 (TRPV1)显示文摘 | Roh E J Keller J M Olah Z | 2008 | Bioorg Med Chem2008，16，： | 1 |
| 16 | Nucleophilic difluoromethylation and difluoromethylenation using bromodifluoromethyl phenyl sulfone显示文摘 | Prakash G.K.S Wang Y Hu J.-B Olah G A | | 0，，9： | 1 |
| 17 | Value of procalcito- nin quick test in the differentiation between sterile and in- fected forms of acute pancreatitis显示文摘 | Olah A Belfigyi T Issekutz A | 2005 | Hepatogastroenter- ology2005，52，61： | 1 |
| 18 | Sequence alterations can mask eachother's presence during screening with SSCP or heteroduplex analysis: BRCA genes as examples显示文摘 | Orban TI Csokay B Olah E | 2000 | Biotechniques2000，29，1： | 1 |
| 19 | Fluorine-containing reagents in organic synthesis显示文摘 | G A Olah J G Shih G K S Prakash | 1986 | J Fluorine Chem1986，33，14： | 1 |
| 20 | Rfing! RAng 显示文摘 | Kathleen Lewis Christine Olah | 2009 | Ameirica Journal of Nurisng2009，109，11： | 1 |
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