Results 1 to 20 of 47
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TypeTitleAuthor(s)YearViews
De novo mutations associated with sporadic cases of Caudal regression syndrome
Proceedings/Conference:
European Conference of Human Genetics, Milan, Italy, 31 May - 3 June 2014
PORSCH, RM; Merello, E; De Marco, P; So, MT; Sham, PC; Tam, PKH; Cherny, SS; Capra, V; Garcia-Barcelo, MM; Campbell, DD20149
 
Targeted next-generation sequencing on Hirschsprung disease: a pilot study exploits DNA pooling
Journal:
Annals of Human Genetics
Gui, H; Bao, Y; Tang, SM; So, MT; Ngo, DN; Tran, AQ; Bui, DH; Pham, DH; Nguyen, TL; Tong, AHY; Lok, S; Sham, PC; Tam, PKH; Cherny, SS; Garcia-Barcelo, MM201414
 
Common Variants on Xq28 Conferring Risk of Schizophrenia in Han Chinese
Journal:
Schizophrenia Bulletin
Wong, HME; SO, HC; Li, M; Wang, Q; Butler, WL; BASIL, P; WU, HM; Hui, TCK; CHOI, SC; So, MT; Garcia-Barcelo, MM; McAlonan, GM; Chen, EYH; Cheung, EFC; Chan, RCK; Purcell, SM; Cherny, SS; Chen, RYL; Li, T; Sham, PC201494
 
Gene network analysis of candidate loci for human anorectal malformations.
Journal:
PLoS One
WONG, HME; NG, CL; Lui, VCH; So, MT; Cherny, SS; Sham, PC; Tam, PKH; Garcia-Barcelo, MM201381
 
RET and NRG1 interplay in Hirschsprung disease
Journal:
Human Genetics
Gui, H; Tang, WKE; So, MT; Proitsi, P; Sham, PC; Tam, PKH; Ngan, ESW; Cherny, SS; Garcia-Barcelo, MM201382
 
Genetic analyses of a three generation family segregating Hirschsprung disease and iris heterochromia.
Journal:
PLoS One
CUI, L; WONG, HME; CHENG, G; Firmato de Almeida, M; So, MT; Sham, PC; Cherny, SS; Tam, PKH; Garcia-Barcelo, MM201360
 
Genome-wide copy number variation study in anorectal malformations
Journal:
Human Molecular Genetics
Publisher:
Oxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Wong, EHM; Cui, L; Ng, CL; Tang, CSM; Liu, X; So, MT; Yip, BHK; Cheng, G; Zhang, R; Tang, WK; Yang, W; Lau, YL; Baum, L; Kwan, P; Sun, LD; Zuo, XB; Ren, YQ; Yin, XY; Miao, X; Liu, JJ; Lui, VCH; Ngan, ESW; Yuan, ZW; Zhang, SW; Xia, JL; Wang, HL; Sun, XB; Wang, RY; Chang, T; Chan, IHY; Chung, HY; Zhang, XJ; Wong, KKY; Cherny, SS; Sham, PC; Tam, PKH; Garcia-Barcelo, MM2013223
 
Allele-specific expression at the RET locus in blood and gut tissue of individuals carrying risk alleles for Hirschsprung disease
Journal:
Human Mutation
Matera, I; Musso, M; Griseri, P; Rusmini, M; Duca, MD; So, MT; Mavilio, D; Miao, X; Tam, PKH; Ravazzolo, R; Ceccherini, I; Garcia-Barcelo, MM2013107
 
Common genetic variants regulating ADD3 gene expression alter biliary atresia risk.
Journal:
Journal of Hepatology
Cheng, G; Tang, SM; Wong, HME; Cheng, WC; So, MT; Miao, X; Zhang, R; Liu, X; CUI, L; Ngan, ESW2013124
 
Gene network analysis of candidate loci for human anorectal malformations
Proceedings/Conference:
63rd ASHG Annual Meeting Poster Abstracts 2013
Publisher:
American Society of Human Genetics (ASHG).
Garcia-Barcelo, MM; Wong, HEM; Ng, CL; Lui, VCH; So, MT; Cherny, SS; Sham, PC; Tam, PK201334
 
Functional analyses of RET mutations in Chinese hirschsprung disease patients
Journal:
Birth Defects Research Part A: Clinical and Molecular Teratology
Publisher:
John Wiley & Sons, Inc. The Journal's web site is located at http://www3.interscience.wiley.com/cgi-bin/jhome/102526943
Leon, TYY; So, MT; Lui, VCH; Hofstra, RMW; Tam, PKH; Ngan, ESW; Garcia-Barcelo, MM2012233
 
Mutations in the NRG1 gene are associated with Hirschsprung disease
Journal:
Human Genetics
Publisher:
Springer Verlag. The Journal's web site is located at http://link.springer.de/link/service/journals/00439/index.htm
Tang, CSM; Ngan, ESW; Tang, WK; So, MT; Cheng, G; Miao, XP; Leon, TYY; Leung, BMC; Hui, KJWS; Lui, VHC; Chen, Y; Chan, IHY; Chung, PHY; Liu, XL; Wong, KKY; Sham, PC; Cherny, SS; Tam, PKH; GarciaBarcelo, MM2012329
 
Screening of the RET gene of Vietnamese Hirschsprung patients identifies 2 novel missense mutations
Journal:
Journal of Pediatric Surgery
Publisher:
WB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/jpedsurg
Ngo, DN; So, MT; Gui, H; Tran, AQ; Bui, DH; Cherny, S; Tam, PKH; Nguyen, TL; Garcia-Barcelo, MM2012173
 
Fine mapping on chromosome 10q24.2 implicates ADD3 in biliary atresia
Proceedings/Conference:
Annual Meeting of American Society of Human Genetics, ASHG 2012
Publisher:
American Society of Human Genetics
Garcia-Barcelo, MM; Cheng, G; Tang, CSM; Liu, X; Zhang, R; So, MT; Wong, EHM; Chung, PHY; Chan, IHY; Liu, J; Zhong, W; Xia, H; Yu, J; Wong, KKY; Cherny, SS; Sham, PC; Tam, PKH2012117
 
Genome-wide copy number variation in anorectal malformations
Proceedings/Conference:
Annual Meeting of American Society of Human Genetics, ASHG 2012
Publisher:
American Society of Human Genetics.
Cherny, SS; Wong, EHM; Cui, L; Ng, CL; Tang, CSM; So, MT; Yip, BHK; Cheng, G; Lui, VCH; Sham, PC; Tam, PKH; Garcia-Barcelo, MM201298
 
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
Journal:
PLoS Genetics
Publisher:
Public Library of Science. The Journal's web site is located at http://www.plosgenetics.org/
Tang, CSM; Cheng, G; So, MT; Yip, BHK; Miao, XP; Wong, EHM; Ngan, ESW; Lui, VCH; Song, YQ; Chan, D; Cheung, K; Yuan, ZW; Lei, L; Chung, PHY; Liu, XL; Wong, KKY; Marshall, CR; Scherer, S; Cherny, SS; Sham, PC; Tam, PKH; GarciaBarceló, MM2012300
 
Genome-wide association study identifies a susceptibility locus for biliary atresia on 10q24.2 (vol 19, pg 2917, 2010)
Journal:
Human Molecular Genetics
Publisher:
Oxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Garcia-Barcelo, MM; Yeung, MY; Miao, XP; Tang, CSM; Cheng, G; So, MT; Ngan, EW; Lui, VCH; Chen, Y; Liu, XL; Hui, KJWS; Li, L; Guo, WH; Sun, XB; Tou, JF; Chan, KW; Wu, XZ; Song, YQ; Chan, D; Cheung, K; Chung, PHY; Wong, KKY; Sham, PC; Cherny, SS; Tam, PKH2011230
 
RET mutational spectrum in Hirschsprung disease: Evaluation of 601 Chinese patients
Journal:
PLoS ONE
Publisher:
Public Library of Science. The Journal's web site is located at http://www.plosone.org/home.action
So, MT; LeonThomas, YY; Cheng, G; TangClara, SM; Miao, XP; Cornes, BK; Ngo, DN; Cui, L; NganElly, SW; LuiVincent, CH; Wu, XZ; Wang, B; Wang, H; Yuan, ZW; Huang, LM; Li, L; Xia, H; Zhu, D; Liu, J; Nguyen, TL; ChanIvy, HY; ChungPatrick, HY; Liu, XL; Zhang, R; WongKenneth, KY; Sham, PC; Cherny, SS; TamPaul, KH; GarciaBarcelo, MM2011317
 
Fine mapping of the NRG1 hirschsprung's disease locus
Journal:
PLoS ONE
Publisher:
Public Library of Science. The Journal's web site is located at http://www.plosone.org/home.action
Tang, CSM; Tang, WK; So, MT; Miao, XP; Leung, BMC; Yip, BHK; Leon, TYY; Ngan, ESW; Lui, VCH; Chen, Y; Chan, IHY; Chung, PHY; Liu, XL; Wu, XZ; Wong, KKY; Sham, PC; Cherny, SS; Tam, PKH; GarciaBarceló, MM2011901
 
Genome-wide copy number analysis uncovers a new HSCR gene: NRG3
Proceedings/Conference:
12th ICHG 2011 Meeting
Publisher:
American Society of Human Genetics/ICHG 2011 Meeting Management Office.
Garcia-Barcelo, M; Tang, CSM; So, MT; Marshall, CR; Scherer, S; Cherny, S; Sham, P; Tam, P2011146
 
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