Singapore Human Mutation/Polymorphism Database: a country-specific database for mutations and polymorphisms in inherited disorders and candidate gene association studiesEne Choo Tan
Defense Medical and Environmental Research Institute, DSO National Laboratories, Republic of Singapore
Hum Mutat 27:232-5. 2006
..It will be useful not only for researchers in Singapore, but also for those in countries with similar ethnic backgrounds, such as China, Taiwan, Hong Kong, Indonesia, and Malaysia...
Identification of IRF6 gene variants in three families with Van der Woude syndromeEne Choo Tan
KK Research Centre, KK Women s and Children s Hospital, Singapore 229899, Singapore
Int J Mol Med 21:747-51. 2008
..This case of haploinsufficiency caused disruption of orofacial development but not other organ systems as the child has no other medical or developmental abnormalities despite the deletion of at least five other genes...
Ethnic differences in pain perception and patient-controlled analgesia usage for postoperative painEne Choo Tan
KK Research Centre, KK Women s and Children s Hospital, and the Department of Psychological Medicine, Yong Loo Lin School of Medicine, National University of Singapore, Singapore
J Pain 9:849-55. 2008
..Inadequate management of pain after cesarian deliveries might affect the emotional well-being and physical recovery of patients and affect mother-child bonding...
Ethnicity and OPRM variant independently predict pain perception and patient-controlled analgesia usage for post-operative painEne Choo Tan
KK Research Centre, KK Women s and Children s Hospital, Singapore
Mol Pain 5:32. 2009
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Alcohol and aldehyde dehydrogenase polymorphisms in Chinese and Indian populationsEne Choo Tan
KK Research Centre, KK Women s and Children s Hospital, Singapore
Subst Use Misuse 45:1-14. 2010
..None of the eight Chinese who were homozygous for both protective alleles was alcohol dependent. The higher frequencies of the protective alleles could explain the lower rate of alcohol dependence in Chinese...
A118G single nucleotide polymorphism of human mu-opioid receptor gene influences pain perception and patient-controlled intravenous morphine consumption after intrathecal morphine for postcesarean analgesiaAlex T Sia
Department of Women s Anaesthesia, KK Women s and Children s Hospital, 100 Bukit Timah Road, Singapore
Anesthesiology 109:520-6. 2008
..The purpose of this study was to investigate whether this polymorphism contributes to the variability in response to morphine for postcesarean analgesia...
Tumor necrosis factor-alpha gene promoter polymorphisms in chronic schizophreniaEne Choo Tan
Defense Medical Research Institute, Defense Science and Technology Agency, Republic of, Singapore, Singapore
Biol Psychiatry 54:1205-11. 2003
..The aim of this study was to investigate four biallelic polymorphisms in the tumor necrosis factor-alpha (TNFalpha) gene promoter in relation to susceptibility to schizophrenia...
Gender-specific association of insertion/deletion polymorphisms in the nogo gene and chronic schizophreniaEne Choo Tan
Defence Medical and Environmental Research Institute, DSO National Laboratories, 27 Medical Drive, Kent Ridge, 117510, Singapore
Brain Res Mol Brain Res 139:212-6. 2005
..Odds ratio is 0.63 (95% CI 0.42-0.93) for the protective wildtype haplotype CAA-TATCTATC. Further study of these two polymorphisms to investigate functional significance and confirm gender-specific association should be carried out...
Functional polymorphisms of the cytochrome P450 1A2 (CYP1A2) gene and prolonged QTc interval in schizophreniaJoshua K X Tay
Yong Loo Lin School of Medicine, National University of Singapore, Singapore
Prog Neuropsychopharmacol Biol Psychiatry 31:1297-302. 2007
..The results of this study suggest that the CYP1A2(*)1F polymorphism may contribute to the risk of developing prolonged QT-interval in patients who are treated with higher doses of antipsychotics...
Characterization of frequencies and distribution of single nucleotide insertions/deletions in the human genomeEne Choo Tan
KK Research Centre, KK Women s and Children s Hospital, 100 Bukit Timah Road, Singapore 229899, Singapore
Gene 376:268-80. 2006
..Density of validated SNindels is 0.007/10 kb overall and 90% are found within or near genes. Among all chromosomes, Y has the lowest numbers and densities for all SNindels, validated SNindels, and SNindels not within repeats...
A submicroscopic deletion involving part of the CREBBP gene detected by array-CGH in a patient with Rubinstein-Taybi syndromeAngeline H M Lai
Genetics Service, KK Women s and Children s Hospital, Republic of Singapore
Gene 499:182-5. 2012
..We report the junction sequence across the breakpoint region for a microdeletion in RSTS. The sequencing results also showed that the deletion was 81.4kb involving three genes DNASE 1, TRAP 1, and CREBBP...
An additional case of the recurrent 15q24.1 microdeletion syndrome and review of the literatureIvy S L Ng
Genetics Service, KK Women s and Children s Hospital, Singapore
Twin Res Hum Genet 14:333-9. 2011
..3. The minimum overlapping deleted region is less than 0.5 Mb from 72.3 Mb to 72.7 Mb. The functions of the nine annotated genes within the region and how they might contribute to the microdeletion phenotype are discussed...
Combined analysis of 635 patients confirms an age-related association of the serotonin 2A receptor gene with tardive dyskinesia and specificity for the non-orofacial subtypeBernard Lerer
Biological Psychiatry Laboratory, Department of Psychiatry, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Int J Neuropsychopharmacol 8:411-25. 2005
..Together with other genetic variants associated with TD the findings could be used to assess risk in patients who are candidates for treatment with typical antipsychotic medications...
Polymorphisms of dopamine receptors and tardive dyskinesia among Chinese patients with schizophreniaSiow Ann Chong
Woodbridge Hospital Institute of Mental Health, Singapore
Am J Med Genet B Neuropsychiatr Genet 116:51-4. 2003
..The association of TD with the serine/serine genotype of the DRD3 may be an epiphenomenon of patients with a subtype of schizophrenia who had more exposure to neuroleptics...
Mu opioid receptor gene polymorphisms and heroin dependence in Asian populationsEne Choo Tan
Defence Medical Research Institute, Defence Science and Technology Agency, 04 07 Clinical Research Centre, 10 Medical Drive, Singapore 117597
Neuroreport 14:569-72. 2003
..Molecular haplotyping revealed complete linkage dis-equilibrium between the A118G and C17 T polymorphisms. Linkage disequilibrium between the A118G and C1031G polymorphisms was found to be almost complete in all four ethnic groups...
Case-control and linkage disequilibrium studies of the tryptophan hydroxylase gene polymorphisms and major depressive disorderEne Choo Tan
Defence Medical Research Institute, Defence Science and Technology Agency, Clinical Research Centre 04 07, 10 Medical Drive, Singapore 117597, Republic of Singapore
Psychiatr Genet 13:151-4. 2003
..We investigated the association of tryptophan hydroxylase gene polymorphisms and unipolar depression in a case-control study design...
Mu opioid receptor gene polymorphism and neuroleptic-induced tardive dyskinesia in patients with schizophreniaEne-Choo Tan
Schizophr Res 65:61-3. 2003
Genetic analysis of the thermolabile methylenetetrahydrofolate reductase variant in schizophrenia and mood disordersEne Choo Tan
Defence Medical Research Institute, Defence Science and Technology Agency, Republic of Singapore
Psychiatr Genet 14:227-31. 2004
..We investigated the frequency of the common C667 T variant of the enzyme methylenetetrahydrofolate reductase in controls and patients of Chinese descent...
Heterozygosities and allelic frequencies of a set of microsatellite markers used for genome-wide scans in a Chinese populationEne-Choo Tan
Defence Medical Research Institute, Defence Science and Technology Agency Clinical Research Centre, 10 Medical Drive, Singapore 117597, Republic of Singapore
J Hum Genet 47:623-31. 2002
..The significant difference in heterozygosity and allelic frequencies between populations suggests that markers should be optimally selected for each study population to maximize information content and power...
Epidemiology of completed suicides in Singapore for 2001 and 2002Marie Loh
Bioinformatics Institute, National University of Singapore
Crisis 28:148-55. 2007
..Although the overall rate of elderly suicides had gone down since the 1990s, prevention strategy should focus on the elderly as this rate is still about 3-4 times the national average...
No evidence of molecular heterosis at the dopamine D2 receptor gene locus for smoking in schizophreniaEne-Choo Tan
Am J Med Genet B Neuropsychiatr Genet 120:40-1. 2003
Smoking and tardive dyskinesia: lack of involvement of the CYP1A2 geneSiow Ann Chong
Woodbridge Hospital and Institute of Mental Health, Singapore
J Psychiatry Neurosci 28:185-9. 2003
..To establish if there is an association between cigarette smoking and tardive dyskinesia (TD) in patients with schizophrenia and to evaluate the role of the CYP1A2 polymorphism in TD in patients of Chinese descent...
Identification of human Clock gene variants by denaturing high-performance liquid chromatographyYing Chen
Population Genetics Programme, Defence Medical and Environmental Research Institute, DSO National Laboratories, 27 Medical Drive, Kent Ridge, Singapore 117510, Singapore
J Hum Genet 49:209-14. 2004
..Our results would also be useful for better planning in the selection of polymorphisms for future genetic association studies involving the hClock gene...
Congenital long QT syndromes: clinical features, molecular genetics and genetic testingChi-Keong Ching
National Heart Centre, Department of Cardiology, National Heart Centre, Mistri Wing 17 Third Hospital Avenue, Singapore 168752, Republic of Singapore
Expert Rev Mol Diagn 6:365-74. 2006
..Identification of the mutation will lead to better management of symptoms and more targeted treatment, depending on the underlying genetic defect, resulting in a reduction of mortality and cardiac events...