Research Topics
Genomes and Genes | Paul Kwong-Hang TamSummaryAffiliation: University of Hong Kong Country: China Publications
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Detail Information
Publications
Live donor liver transplantation for fulminant hepatic failure in childrenChi Leung Liu
Centre for the Study of Liver Disease, University of Hong Kong Medical Centre, Queen Mary Hospital, Hong Kong, China
Liver Transpl 9:1185-90. 2003..051; patient survival, 89%; P =.281). Although survival outcomes are inferior to those in elective situations, LDLT is a timely and lifesaving procedure for children with FHF...- Genome-wide biological response fingerprinting (BioReF) of the Chinese botanical formulation ISF-1 enables the selection of multiple marker genes as a potential metric for quality controlJianhui Rong
Molecular Chinese Medicine Laboratory, Li Ka Shing Faculty of Medicine, The University of Hong Kong, 21 Sassoon Road, Pokfulam, Hong Kong
J Ethnopharmacol 113:35-44. 2007..This approach provides a potential comprehensive and cost-effective quality control metric of the biological activities of botanical drugs... - Molecular genetics of Hirschsprung's diseasePaul K H Tam
Department of Surgery and Genome Research Centre, The University of Hong Kong, Queen Mary Hospital K15, Pokfulam, Hong Kong, P.R. China
Semin Pediatr Surg 13:236-48. 2004 
Towards predictive, preventive, and personalized paediatric surgeryPaul K H Tam
Department of Surgery, University of Hong Kong Medical Centre, Queen Mary Hospital, Hong Kong
J Pediatr Surg 43:267-73. 2008..The next generation paediatric surgeons must seize the opportunities in large-scale biology research to develop the best future treatment for their patients...- Mapping of a Hirschsprung's disease locus in 3p21Maria Mercè Garcia-Barceló
Department of Surgery, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong SAR, China
Eur J Hum Genet 16:833-40. 2008..Ranking markers by proximity to candidate genes or by expected functional consequences could be used in follow-up studies to finally pinpoint this HSCR locus... - Genetic basis of Hirschsprung's diseasePaul K H Tam
Division of Paediatric Surgery, Department of Surgery, Queen Mary Hospital, The University of Hong Kong, Pok Fu Lam Road, Hong Kong, People s Republic of China
Pediatr Surg Int 25:543-58. 2009..This review will focus on the genes known to be involved in HSCR pathology, how they interact, and on how technology advances are being employed to uncover the pathological processes underlying this disease... - Evaluation of the thyroid transcription factor-1 gene (TITF1) as a Hirschsprung's disease locusMaria Mercè Garcia-Barceló
Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine of the University of Hong Kong, Hong Kong SAR, China
Ann Hum Genet 71:746-54. 2007..TITF1 mutations could contribute to HSCR by affecting RET expression through defective interactions with other transcription factors... - Proteomic identification of the Cus system as a major determinant of constitutive Escherichia coli silver resistance of chromosomal originChun Nam Lok
The Open Laboratory of Chemical Biology of the Institute of Molecular Technology for Drug Discovery and Synthesis, Department of Chemistry, Department of Anatomy, and Department of Surgery, The University of Hong Kong, Pokfulam, Hong Kong, China
J Proteome Res 7:2351-6. 2008..These results suggest that the chromosomally encoded Cus system, which naturally controls the periplasmic copper concentrations, is selectable to confer a constitutive silver resistance phenotype... - Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung diseaseMerce Garcia-Barcelo
Division of Paediatric Surgery, Department of Surgery, University of Hong Kong Medical Center, Queen Mary Hospital, Hong Kong SAR, China
Clin Chem 50:93-100. 2004.... - Induction of heme oxygenase-1 by traditional Chinese medicine formulation ISF-1 and its ingredients as a cytoprotective mechanism against oxidative stressJianhui Rong
Molecular Chinese Medicine Laboratory, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, People s Republic of China
Int J Mol Med 21:405-11. 2008..This study may shed light on the development of mechanism-defined therapies based on traditional herbal remedies... - Transcriptional regulation of RET by Nkx2-1, Phox2b, Sox10, and Pax3Thomas Y Y Leon
Division of Paediatric Surgery, Department of Surgery, The University of Hong Kong, Hong Kong SAR, China
J Pediatr Surg 44:1904-12. 2009..In this study, we further delineated Nkx2-1-mediated RET Transcription... - Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndromeMerce Garcia-Barcelo
Department of Surgery, The University of Hong Kong, Pok Fu Lam, Hong Kong SAR, China
Clin Chem 52:46-52. 2006..The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in HLXB9... - Prokineticin-1 (Prok-1) works coordinately with glial cell line-derived neurotrophic factor (GDNF) to mediate proliferation and differentiation of enteric neural crest cellsElly S W Ngan
Department of Surgery, University of Hong Kong, Pokfulam, Hong Kong
Biochim Biophys Acta 1783:467-78. 2008..Taken together, these findings provide evidence that Prok-1 crosstalks with GDNF/Ret signaling and probably provides an additional layer of signaling refinement to maintain proliferation and differentiation of enteric NCCs... - Association of the CD134/CD134L costimulatory pathway with acute rejection of small bowel allograftLina Tian
Division of Paediatric Surgery, Department of Surgery, University of Hong Kong Medical Center, Queen Mary Hospital, PR China
Transplantation 74:133-8. 2002..The CD134/CD134L pathway has been studied in inflammatory, autoimmune diseases, and graft-versus-host disease, but no information exists on the involvement of CD134/CD134L interactions in solid organ transplantation... - Rosiglitazone suppresses cyclosporin-induced chronic transplant dysfunction and prolongs survival of rat cardiac allograftsYan Chen
Department of Surgery, Faculty of Medicine Building, University of Hong Kong, Pokfulam, Hong Kong, SAR China
Transplantation 83:1602-10. 2007..Peroxisome proliferator-activated receptor ligands can suppress vascular inflammation. The aim of this study was to analyze the effects of rosiglitazone on chronic transplant dysfunction in a rat cardiac transplant model... - Diagnosing acute appendicitis: are we overusing radiologic investigations?Kenneth K Y Wong
Department of Surgery, The University of Hong Kong, Queen Mary Hospital, Hong Kong SAR, China
J Pediatr Surg 43:2239-41. 2008..The aim of this study is to review the trend of diagnosing appendicitis in a single center and discuss the implications... - Prokineticin-1 modulates proliferation and differentiation of enteric neural crest cellsElly S W Ngan
Department of Surgery, University of Hong Kong, Pokfulam, Faculty of Medicine Building, 21 Sassoon Road, Hong Kong, SAR, China
Biochim Biophys Acta 1773:536-45. 2007..Taken together, it is the first report demonstrating that Prok-1 acts as a gut mucosa/mesenchyme-derived factor and maintains proliferation and differentiation of enteric NCCs... - Involvement of visinin-like protein-1 (VSNL-1) in regulating proliferative and invasive properties of neuroblastomaYi Xie
Department of Surgery, The University of Hong Kong, Hong Kong SAR, China
Carcinogenesis 28:2122-30. 2007..These results suggested that distinct roles of proliferative and invasive phenotypes contributed to neuroblastoma progression and strongly demonstrated that VSNL-1 played a very important role in neuroblastoma metastasis... - Perturbation of hoxb5 signaling in vagal neural crests down-regulates ret leading to intestinal hypoganglionosis in miceVincent C H Lui
Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Hong Kong SAR, China
Gastroenterology 134:1104-15. 2008.... - Ubiquitous aberrant RASSF1A promoter methylation in childhood neoplasiaIvy H N Wong
Department of Biochemistry, 3 F Laboratory Block, Faculty of Medicine Building, 21 Sassoon Road, The University of Hong Kong, Hong Kong Special Administrative Region
Clin Cancer Res 10:994-1002. 2004.... - Acceleration of apoptosis in CD4+CD8+ thymocytes by rapamycin accompanied by increased CD4+CD25+ T cells in the peripheryLina Tian
Division of Paediatric Surgery, Department of Surgery, University of Hong Kong Medical Centre, Queen Mary Hospital, Hong Kong SAR, People s Republic of China
Transplantation 77:183-9. 2004..Its mechanisms of action are not fully understood. In this article, the authors have investigated the effects of therapeutic doses of Rapa on both thymic and peripheral T-cell populations in the adult rat... - Implications of endocrine gland-derived vascular endothelial growth factor/prokineticin-1 signaling in human neuroblastoma progressionElly S W Ngan
Department of Surgery, University of Hong Kong, Pokfulam, Hong Kong, SAR, China, and Department of Pediatric Surgery, The Second Affiliated Hospital of China Medical University, Shenyang, China
Clin Cancer Res 13:868-75. 2007..In this report, we further elucidate its role in neuroblastoma progression... - Should open Kasai portoenterostomy be performed for biliary atresia in the era of laparoscopy?Kenneth K Y Wong
Department of Surgery, University of Hong Kong Medical Center, Queen Mary Hospital, Pokfulam Road, Hong Kong SAR, China
Pediatr Surg Int 24:931-3. 2008..Laparoscopic Kasai portoenterostomy seems to be associated with more post-operative complications and worse early clinical outcome. As a result, we remain guarded about the present-day technique of laparoscopy for biliary atresia... - Double intestinal atresia in imperforate anus: a diagnostic conundrum for paediatric surgeonsChen-Lung Steve Lin
Department of Surgery, University of Hong Kong Medical Center, Queen Mary Hospital, Hong Kong
Asian J Surg 27:52-3. 2004 - Triptolide, a component of Chinese herbal medicine, modulates the functional phenotype of dendritic cellsYan Liu
Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong, PR China
Transplantation 84:1517-26. 2007..Since dendritic cells (DCs) play a critical role in the initiation of alloimmune responses to foreign grafts, the aim of the present study was to evaluate the effects of TPT in the functional phenotype of bone marrow (BM)-derived DCs... - Combined treatment with triptolide and rapamycin prolongs graft survival in a mouse model of cardiac transplantationYan Liu
Department of Surgery, University of Hong Kong Medical Centre, Queen Mary Hospital, Hong Kong, China
Transpl Int 21:483-94. 2008..This effect is accompanied by inhibition of DCs maturation, conditioning DCs to adopt tolerogenic phenotype, and the expansion of Tr cells. These results add weight to the application of combination therapy in transplantation... - TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's diseaseMerce Garcia-Barcelo
Department of Surgery, The University of Hong Kong, Hong Kong SAR, China
Hum Mol Genet 14:191-204. 2005..We also present a detailed profile of the RET gene in our population, which provides an insight into the higher incidence of the disease in China... - Prokineticin-signaling pathwayElly S W Ngan
Department of Surgery, University of Hong Kong, Pokfulam, Hong Kong, China
Int J Biochem Cell Biol 40:1679-84. 2008..The physiological and patho-physiological roles of prokineticin signaling are just beginning to be revealed and a better understanding of the system should lead to the development of useful therapies for various diseases... - Sonic hedgehog promotes CD4+ T lymphocyte proliferation and modulates the expression of a subset of CD28-targeted genesVera S F Chan
Department of Surgery, University of Hong Kong Medical Centre, K 15 Queen Mary Hospital, Pokfulam Road, Hong Kong SAR, China
Int Immunol 18:1627-36. 2006..Furthermore, Shh co-stimulation modulates the expression of a subset of CD28-responsive genes, including cyclin A and B cell translocation gene 2... - Increased iNOS-expressing macrophage in long-term surviving rat small-bowel graftsXiaosong Li
Division of Pediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, PRC
Am J Surg 194:248-54. 2007.... - A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinomaElly S W Ngan
Department of Surgery, University of Hong Kong, Pokfulam, Faculty of Medicine Building, 21 Sassoon Rd, Hong Kong, SAR, China
J Natl Cancer Inst 101:162-75. 2009..Because thyroid transcription factor-1 (TTF-1) is important to thyroid development, we evaluated whether the gene that encodes it, TITF-1/NKX2.1, is a genetic determinant of MNG/PTC predisposition... - Silver nanoparticles mediate differential responses in keratinocytes and fibroblasts during skin wound healingXuelai Liu
Department of Surgery, LKS Faculty of Medicine, The University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong SAR, China
ChemMedChem 5:468-75. 2010..These findings further extend our current knowledge of AgNPs in biological and cellular events and also have significant implications for the treatment of wounds in the clinical setting... - Inhibition of sonic hedgehog signaling reduces chronic rejection and prolongs allograft survival in a rat orthotopic small bowel transplantation modelYan Chen
Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, PR China
Transplantation 83:1351-7. 2007..Sonic hedgehog (Shh), a morphogen critical in embryogenesis, also promotes peripheral immunity, which prompted us to investigate if inhibition of Shh signaling could reduce CR and thereby enhance allograft survival... - Comparative study of allograft survival of heterotopic and orthotopic small bowel transplantation in ratWei Hong Guo
Division of Paediatric Surgery, Department of Surgery, University of Hong Kong Medical Centre, Queen Mary Hospital, Hong Kong SAR, P.R. China
Transplantation 75:1895-7. 2003..The indefinite survival of O-SBT is not due to of the removal of host intestine carrying a heavy load of gut-associated lymphoid tissue... - Novel RET mutation produces a truncated RET receptor lacking the intracellular signaling domain in a 3-generation family with Hirschsprung diseaseVincent C H Lui
Department of Surgery and Genome Research Centre, The University of Hong Kong Pokfulam, Hong Kong SAR, China
Clin Chem 51:1552-4. 2005 - Silver nanoparticles: partial oxidation and antibacterial activitiesChun Nam Lok
The Open Laboratory of Chemical Biology of the Institute of Molecular Technology for Drug Discovery and Synthesis, The University of Hong Kong, Pokfulam Road, Hong Kong, China
J Biol Inorg Chem 12:527-34. 2007..The antibacterial activities of silver nanoparticles are dependent on optimally displayed oxidized surfaces, which are present in well-dispersed suspensions... - 3' Splicing variants of ret receptor tyrosine kinase are differentially expressed in mouse embryos and in adult miceKing Yiu Lee
Department of Surgery, The University of Hong Kong, Pokfulam Road, Pokfulam, SAR, Hong Kong, China
Biochim Biophys Acta 1627:26-38. 2003..In adult mice, ret 9 expression was relatively widespread in many organs while that of ret 51 was rather restricted. Our data indicated that ret isoforms are temporally and spatially regulated in mouse embryos and adult mouse... - Analytical application of acetate anion in negative electrospray ionization mass spectrometry for the analysis of triterpenoid saponins--ginsenosidesKwan Ming Ng
Department of Chemistry and Open Laboratory of Chemical Biology of the Institute of Molecular Technology for Drug Discovery and Synthesis, The University of Hong Kong, Hong Kong
Rapid Commun Mass Spectrom 20:1545-50. 2006..Additionally, NH4OAc was found to enhance the sensitivity of detection of ginsenosides in the form of [M-H]- down to the femtomole level... - Mammary gland-specific secretion of biologically active immunosuppressive agent cytotoxic-T-lymphocyte antigen 4 human immunoglobulin fusion protein (CTLA4Ig) in milk by transgenesisVincent C H Lui
Division of Paediatric Surgery, Department of Surgery, The University of Hong Kong Medical Centre, Queen Mary Hospital, SAR, Hong Kong, China
J Immunol Methods 277:171-83. 2003..The findings suggest that the approach to produce CTLA4Ig in milk by transgenesis is feasible; further studies involving farm animals are warranted... - Application of HapMap data to the evaluation of 8 candidate genes for pediatric slow transit constipationMerce Garcia-Barcelo
Division of Paediatric Surgery, Department of Surgery, The University of Hong Kong, Hong Kong SAR, China
J Pediatr Surg 42:666-71. 2007..We conducted a pilot study to investigate whether genes encoding neurotransmitters (TAC1, TAC3, VIP, NOS1) and receptors (TACR1, TACR2, TACR3, KIT) could be responsible for STC... - Effective antibiotic regime for postoperative acute cholangitis in biliary atresia--an evolving sceneKenneth K Y Wong
Department of Surgery, University of Hong Kong Medical Centre, Queen Mary Hospital, Hong Kong SAR, People's Republic of China
J Pediatr Surg 39:1800-2. 2004..This suggests a need for a more effective first-line empirical antibiotic. From this review, meropenem seems to be a suitable candidate, and a future prospective clinical trial is warranted... - Homozygous L-SIGN (CLEC4M) plays a protective role in SARS coronavirus infectionVera S F Chan
Department of Surgery, Hong Kong Jockey Club Clinical Research Center, The University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong, SAR, China
Nat Genet 38:38-46. 2006..Thus, homozygosity for L-SIGN plays a protective role during SARS infection... - Portoenterostomy for biliary atresia: Long-term survival and prognosis after esophageal variceal bleedingL W Ernest van Heurn
Department of Surgery, University of Hong Kong Medical Centre, Queen Mary Hospital, Hong Kong, SAR, People's Republic of China
J Pediatr Surg 39:6-9. 2004..Esophageal hemorrhage is not an absolute indication for urgent liver transplantation in patients with good bile drainage... - Cholangitis after hepatic portoenterostomy for biliary atresia: a multivariate analysis of risk factorsL W Ernest van Heurn
Division of Paediatric Surgery, Department of Surgery, University of Hong Kong Medical Center, Queen Mary Hospital, China
J Pediatr 142:566-71. 2003..72; 95% CI, 2.89-11.3) or poor (odds ratio, 3.29; 95% CI, 1.89-5.7) bile drainage. Cholangitis was not an independent risk factor for death or liver transplantation... - Distribution of carbon monoxide-producing neurons in human colon and in Hirschsprung's disease patientsYan Chen
Division of Paediatric Surgery, Department of Surgery, University of Hong Kong Medical Centre, Queen Mary Hospital, and University of Hong Kong, Pokfulam, Hong Kong SAR, China
Hum Pathol 33:1030-6. 2002..HO-2 and NO synthase were selectively absent in the myenteric and submucosal regions and in the muscle of the aganglionic colon. Our findings suggest involvement of both CO and NO in the pathophysiology of HSCR... - Apoptotic cells protect mice against lipopolysaccharide-induced shockYi Ren
Department of Surgery, University of Hong Kong, Hong Kong, China
J Immunol 180:4978-85. 2008..Apoptotic cells may therefore have therapeutic potential for the treatment of septic shock... - A safe laparoscopic technique for the repair of inguinal hernias in boysKwong L Chan
Division of Pediatric Surgery, Department of Surgery, University of Hong Kong Medical Centre, Queen Mary Hospital, China
J Am Coll Surg 196:987-9. 2003 
Mitochondrial dysfunction contributes to the increased vulnerabilities of adiponectin knockout mice to liver injuryMingyan Zhou
Department of Pharmacology, Institute of Molecular Technology for Drug Discovery and Synthesis, University of Hong Kong, Hong Kong, China
Hepatology 48:1087-96. 2008..CONCLUSION: These results suggest that the hepatoprotective properties of adiponectin are mediated at least in part by an enhancement of the activities of MRC complexes through a mechanism involving UCP2...- Further evidence of the anti-inflammatory effects of silver nanoparticlesKenneth K Y Wong
Department of Surgery, The University of Hong Kong, Queen Mary Hospital, Pokfulam Road, Hong Kong SAR, China
ChemMedChem 4:1129-35. 2009..This study thus provides further evidence for and contributes to the understanding of the anti-inflammatory properties of nAg and may also give a novel therapeutic direction for the prevention of postoperative adhesions... - A novel function for dendritic cell: clearance of VEGF via VEGF receptor-1Yi Xie
Department of Surgery, The University of Hong Kong, Hong Kong SAR, China
Biochem Biophys Res Commun 380:243-8. 2009..This study highlights a novel function of DCs and allows a better understanding of the DC-VEGF interaction... - Well-differentiated thyroid carcinoma in Hong Kong Chinese patients under 21 years of age: a 35-year experienceYee-Man Lee
Department of Surgery, University of Hong Kong Medical Center, Queen Mary Hospital, Hong Kong
J Am Coll Surg 194:711-6. 2002..CONCLUSIONS: Well-differentiated thyroid carcinoma is a relatively indolent tumor associated with good prognosis in young patients. Although death from this condition is rare, recurrence is frequent and longterm followup is necessary... - Spontaneous pneumoperitoneum after pneumonia in a childDaniel T I Chan
Department of Surgery, University of Hong Kong Medical Centre, Queen Mary Hospital, Hong Kong SAR, China
J Paediatr Child Health 43:85-6. 2007..Here we report a rare case of a previously healthy boy with pneumoperitoneum associated with pneumonia and perform a review of the literature to explore the etiological mechanisms and the pathophysiology of non-surgical pneumoperitoneum... - Selective upper endoscopy for foreign body ingestion in children: an evaluation of management protocol after 282 casesKenneth K Y Wong
Department of Surgery, University of Hong Kong Medical Center, Queen Mary Hospital, Hong Kong, SAR, China
J Pediatr Surg 41:2016-8. 2006..There were no readmissions for those who did not undergo endoscopic examination. CONCLUSION: It is safe to selectively perform upper endoscopy depending on symptoms when managing children with foreign body ingestion... - Suppression of lung tumor growth and metastasis in mice by adeno-associated virus-mediated expression of vasostatinKe Xia Cai
Department of Biochemistry, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong, China
Clin Cancer Res 14:939-49. 2008..In this study, we determined the effectiveness of vasostatin delivered by recombinant pseudotype adeno-associated virus 2/5 (rAAV2/5-VAS) as a gene therapy approach for lung cancer treatment... - LPS-induced up-regulation of TGF-beta receptor 1 is associated with TNF-alpha expression in human monocyte-derived macrophagesYan Chen
Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, China
J Leukoc Biol 83:1165-73. 2008..Our data demonstrate a direct effect of TGF-beta signaling via ALK5 on the regulation of TNF-alpha synthesis... - Hypoxia modulates lipopolysaccharide induced TNF-alpha expression in murine macrophagesFeng Qin Liu
Division of Paediatric Surgery, Department of Surgery, Li Ka Shing Faculty of Medicine, The University of Hong Kong, Pokfulam, Hong Kong SAR, PR China
Exp Cell Res 314:1327-36. 2008..These findings provide new insights on the pathophysiological effects of hypoxia in sepsis and septic shock... - Altered expression of aquaporin-2 in human explants with chronic renal allograft dysfunctionKossen M T Ho
Department of Surgery, Queen Mary Hospital, University of Hong Kong, Hong Kong SAR, China
BJU Int 95:1104-8. 2005..To investigate the distribution of aquaporins, a recently discovered family of transmembrane water channels, in human renal explants, with specific reference to chronic renal allograft dysfunction (CRAD)... - Serological protein profiling of neuroblastoma by ProteinChip SELDI-TOF technologyQing Yu He
Department of Chemistry, University of Hong Kong, Pokfulam, Hong Kong, China
J Cell Biochem 95:165-72. 2005..These results demonstrated the potential of serological biomarker identification for neuroblastoma by ProteinChip-SELDI technology... - Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese populationBelinda K Cornes
Paediatric Surgery Division, Department of Surgery, Li Ka Shing Faculty of Medicine, University of Hong Kong, Pokfulam, Hong Kong, Special Administrative Region, People s Republic of China
PLoS ONE 5:e10918. 2010..Due to the high frequency of RET(R114H) in this population, we sought to investigate whether this mutation may be a founder HSCR mutation in the Chinese population... - Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese populationXiaoping Miao
Gut 56:736. 2007 - Human Genome Variation 2006: emerging views on structural variation and large-scale SNP analysisGoncalo Abecasis
Department of Biostatistics, University of Michigan, Ann Arbor, Michigan, USA
Nat Genet 39:153-5. 2007..The meeting highlighted recent advances in characterization of genetic variation, including genome-wide association studies and structural variation...