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| 1 | Germline mutation analysis of MLH1 and MSH2 in Malaysian Lynch syndrome patients显示文摘AIM: To investigate the protein expression profi le of mismatch repair (MMR) genes in suspected cases of Lynch syndrome and to characterize the associated germline mutations. METHODS: Immunohistochemical analysis of tumor samples was performed to determine the protein expression profile of MMR protein. Germline mutation screening was carried out on peripheral blood samples. The entire exon regions of MLH1 and MSH2 geneswere amplifi ed by polymerase chain reaction, screened by denaturing high performance liquid chromatography (dHPLC) and analyzed by DNA sequencing to characterize the germline mutations. RESULTS: Three out of 34 tissue samples (8.8%) and four out of 34 tissue samples (11.8%) showed loss of nuclear staining by immunohistochemistry, indicating the absence of MLH1 and MSH2 protein expression in carcinoma cells, respectively. dHPLC analysis followed by DNA sequencing showed these samples to have germline mutations of MSH2 gene. However, no deleterious mutations were identifi ed in any of the 19 exons or coding regions of MLH1 gene, but we were able to identify MLH1 promoter polymorphism, -93G > A (rs1800734), in 21 out of 34 patients (61.8%). We identified one novel mutation, transversion mutation c.2005G > C, which resulted in a missense mutation (Gly669Arg), a transversion mutation in exon 1, c.142G > T, which resulted in a nonsense mutation (Glu48Stop) and splice-site mutation, c.2006-6T > C, which was adjacent to exon 13 of MSH2 gene. CONCLUSION: Germline mutations were identified in four Malaysian Lynch syndrome patients. Immunohistochemical analysis of tumor tissue proved to be a good pre-screening test before proceeding to germline mutation analysis of DNA MMR genes. | Mohd Nizam Zahary Ravindran Ankathi Human Genome Centre Gurjeet Kaur Muhammad Radzi Abu Hassan Harjinder Singh Venkatesh R Naik | 2012 | World Journal of Gastroenterology2012，18，8： | 3 |
| 2 | Speciation of heavy metals by modified BCR sequential extraction procedure in different depths of sediments from Sungai Buloh, Selangor, Malaysia显示文摘 | Keivan Nemati Nor Kartini Abu Bakar Mhd. Radzi Abas Elham Sobhanzadeh | 2011 | Journal of Hazardous Materials2011，，1： | 2 |
| 3 | A simple and efficient multi-residue method based on QuEChERS for pesticides determination in palm oil by liquid chromatography time-of-flight mass spectrometry显示文摘 | Elham Sobhanzadeh Nor Kartini Abu Bakar Mhd Radzi Bin Abas et al | 2012 | Environmental Monitoring and Assessment2012，184，9： | 1 |
| 4 | Multi-Objective Optimization of a Stand-alone Hybrid Renewable Energy System by Using Evolutionary Algorithms: A Review显示文摘 | FADAEE M RADZI M A M | 2012 | Renewable & Sustainable Energy Reviews2012，16，05： | 1 |
| 5 | The facial Soft tissuesimulation of orthognathic surgery using biomechanical model显示文摘 | Obaidellah U Radzi Z Yahya N | 2008 | Biomed2008，21，： | 1 |
| 6 | Intelligent dynamic bandwidth allocation algorithm in upstream EPONs 显示文摘 | RADZI N A M DIN N M Al - MANSOORI M H | 2010 | IEEE/OSA Journal of Optical Communications and Networking2010，2，3： | 1 |
| 7 | An assessment of the concentrations of particulate polycyclic aromatic hydrocarbons (PAHs) in the aftermath of a chemical store fire incident显示文摘PM 10 airborne particles and soot deposit collected after a fire incident at a chemical store were analyzed in order to determine the concentrations of polycyclic aromatic hydrocarbons(PAHs). The samples were extracted with 1∶1 hexane-dichloromethane by ultrasonic agitation. The extracts were then subjected to gas chromatography-mass spectrometric(GC-MS) analysis. The total PAHs concentrations in airborne particles and soot deposit were found to be 3.27±1.55 ng/m 3 and 12.81±24.37 μg/g, respectively. Based on the molecular distributions of PAHs and the interpretation of their diagnostic ratios such as PHEN/(PHEN + ANTH), FLT/(FLT + PYR) and BeP/(BeP + BaP), PAHs in both airborne particles and soot deposit may be inferred to be from the same source. The difference in the value of IP/(IP + BgP) for these samples indicated that benzo[g,h,i]perylene and coronene tend to be attached to finer particles and reside in the air for longer periods. Comparison between the molecular distributions of PAHs and their diagnostic ratios observed in the current study with those reported for urban atmospheric and roadside soil particles revealed that they are of different sources. | M. Radzi Bin Abas Nasr Yousef M. J. Omar M. Jamil Maah | 2004 | Journal of Environmental Sciences2004，16，5： | 1 |
| 8 | Trmascutaneous electrical stimulation of urinary bladder in patients with spinal cord injuries显示文摘 | Radziszewski K Zidinski H Radzis P | 2009 | Int Urol Nephrol2009，41，3： | 1 |
| 9 | Intelligent Dynamic Bandwidth Allocation Algorithm in Upstream EPONs显示文摘 | Radzi N A M Din N M AI-Mansoori N M | 2010 | IEEE/OSA Journal o{ Optical Communications and Networking2010，2，3： | 1 |
| 10 | Intelligent dynamic bandwidth allocation algorithm in upstream EPONs 显示文摘 | RADZI N A NORASHIDAH M D | 2010 | Optical Communication Network2010，3，2： | 1 |
| 11 | Biomass burning as the main source of organic aerosol particulate matter in Malaysia during haze episodes显示文摘 | Radzi bin Abas M Daniel Oros R Simoneit B R T | 2004 | Chemosphere2004，55，8： | 1 |
| 12 | DSP-hased flexible digital hysteresis in switched capacitor active power filter显示文摘 | Rahim Nasrudin Abd Radzi Mohd Amran Mohd | 2010 | IEICE Electronics Express2010，7，9： | 1 |
| 13 | Intelligent dynamic bandwidth allocation algorithm in upstream EPONs显示文摘 | Radzi N A M Din N M Al-Mansoori M H | 2010 | Journal of Optical Communications and Networking2010，2，3： | 1 |
| 14 | Large Colorectal Polyps - Endoscopic Polypectomy as an Alternative to Surgery显示文摘 | Micha? Spychalski Jaros?aw Buczyński Jaros?aw Cywiński ?ukasz Dziki Ewa Langner Andrzej Sygut Radzis?aw Trzciński Adam Dziki | 2011 | Polish Journal of Surgery2011，，10： | 1 |
| 15 | Composition of higher molecular weight organic matter in smoke aerosol from biomass combustion in Amazonia 显示文摘 | Abas Mohammed Radzi bin Simoneit Bemd R T Elias Vladimir | 1995 | Chemosphere1995，30，5： | 1 |
| 16 | Neural network and bandless hys- teresis approach to control switched capacitor active power filter for reduction of harmonics显示文摘 | Radzi M A M Rahim N A | 2009 | IEEE Transactions on Industrial Electronics2009，56，5： | 1 |
| 17 | Concomitant stenting of the patent ductus arteriosus and radiofrequency valvotomy in pulmonary atresia with intact ventricular septum and intermediate right ventricle:early inhospital and medium-term outcomes显示文摘 | Alwi M Choo KK Radzi NA | | 0，，06： | 1 |
| 18 | Comparative study on open system digestion and microwave assisted digestion methods for metal determination in shrimp sludge compost 显示文摘 | Keivan N Kartini A B Mhd Radzi B A | 2010 | Journal of Hazardo- us Materials2010，182，3： | 1 |
| 19 | Trmascutaneous e lec- trical stimulation of urinary bladder in patients with spinal cord injuries 显示文摘 | Radziszewski K Zidinski H Radzis P | 2009 | Int Urol Nephrol2009，41，3： | 1 |
| 20 | Pathogenesis and treatment of dialysis hypotension显示文摘 | W Sulowicz A Radzi szewski | 2006 | kidney Int2006，70，： | 1 |
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