Results 1 to 19 of 19
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TypeTitleAuthor(s)YearViews
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, MM2012349
 
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, MM2012249
 
RET mutational spectrum in Hirschsprungs disease: evaluation of 601 Chinese patients
Proceedings/Conference:
International Congress of Human Genetics, ICHG 2011
Publisher:
American Society of Human Genetics.
Cherny, SS; Garcia-Barcelo, MM; Leon, TYY; So, MT; Sham, PC; Tam, PKH2011181
 
No NRG1 V266L in Chinese patients with schizophrenia
Journal:
Psychiatric Genetics
Publisher:
Lippincott Williams & Wilkins. The Journal's web site is located at http://www.psychgenetics.com
GarciaBarceló, MM; Miao, X; Tang, CS; So, HC; Tang, W; Leon, TYY; So, M; Yip, B; Chen, RYL; Cheung, EFC; Chen, EYH; Li, T; Tam, P; Cherny, SS; Sham, PC2011541
 
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, MM2011921
 
Reduced RET expression in gut tissue of individuals carrying risk alleles of Hirschsprung's disease
Journal:
Human Molecular Genetics
Publisher:
Oxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
Miao, X; Leon, TYY; Ngan, ESW; So, MT; Yuan, ZW; Lui, VCH; Chen, Y; Wong, KKY; Tam, PKH; GarciaBarceló, M2010997
 
Haplotype analysis reveals a possible founder effect of RET mutation R114H for Hirschsprung's disease in the Chinese population
Journal:
PLoS ONE
Publisher:
Public Library of Science. The Journal's web site is located at http://www.plosone.org/home.action
Cornes, BK; Tang, CS; Leon, TYY; Hui, KJWS; So, MT; Miao, X; Cherny, SS; Sham, PC; Tam, PKH; GarciaBarcelo, MM2010804
 
A RET founder mutation in Chinese hirschsprung's patients
Proceedings/Conference:
Annual Meeting of the American Society of Human Genetics
Publisher:
The American Society of Human Genetics.
Cornes, BK; Tang, CSM; Leon, TYY; So, MT; Sham, PC; Tam, PKH; Garcia-Barcelo, MM2009147
 
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
Proceedings/Conference:
NEUROGASTROENTEROLOGY AND MOTILITY
Publisher:
Wiley-Blackwell. The Journal's web site is located at http://www.wiley.com/bw/journal.asp?ref=1350-1925&site=1
Tam, PKH; Tang, CSM; Ngan, ESW; Lui, VCH; Chen, Y; So, MT; Leon, TYY; Miao, XP; Shum, CKY; Liu, FQ; Yeung, MY; Yuan, ZW; Guo, WH; Liu, L; Sun, XB; Huang, LM; Tou, JF; Song, YQ; Chan, D; Cheung, KMC; Wong, KKY; Cherny, SS; Sham, PC; Garcia-Barcelo, MM2009191
 
Transcriptional regulation of RET by Nkx2-1, Phox2b, Sox10, and Pax3
Journal:
Journal of Pediatric Surgery
Publisher:
WB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/jpedsurg
Leon, TYY; Ngan, ESW; Poon, HC; So, MT; Lui, VCH; Tam, PKH; GarciaBarcelo, MM2009183
 
Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
Journal:
Proceedings of the National Academy of Sciences of the United States of America
Publisher:
National Academy of Sciences. The Journal's web site is located at http://www.pnas.org
Garcia-Barcelo, MM; Tang, CSM; Ngan, ESW; Lui, VCH; Chen, Y; So, MT; Leon, TYY; Miao, XP; Shum, CKY; Liu, FQ; Yeung, MY; Yuan, ZW; Guo, WH; Liu, L; Sun, XB; Huang, LM; Tou, JF; Song, YQ; Chan, D; Cheung, KMC; Wong, KKY; Cherny, SS; Sham, PC; Tam, PKH2009649
 
A germline mutation (A339V) in thyroid transcription factor-1 (TITF-1/NKX2.1) in patients with multinodular goiter and papillary thyroid carcinoma
Journal:
Journal of the National Cancer Institute
Publisher:
Oxford University Press. The Journal's web site is located at http://jncicancerspectrum.oxfordjournals.org/
Ngan, ESW; Lang, BHH; Liu, T; Shum, CKY; So, MT; Lau, DKC; Leon, TYY; Cherny, SS; Tsai, SY; Lo, CY; Khoo, US; Tam, PKH; GarciaBarceló, MM2009630
 
Perturbation of Hoxb5 Signaling in Vagal Neural Crests Down-Regulates Ret Leading to Intestinal Hypoganglionosis in Mice
Journal:
Gastroenterology
Publisher:
WB Saunders Co. The Journal's web site is located at http://www.elsevier.com/locate/gastro
Lui, VCH; Cheng, WWC; Leon, TYY; Lau, DKC; GarciaBareclo, M; Miao, XP; Kam, MKM; So, MT; Chen, Y; Wall, NA; Sham, MH; Tam, PKH2008292
 
Mutational analysis of SHH and GLI3 in anorectal malformations
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
GarciaBarceló, MM; Lui, VCH; Miao, X; So, MT; Leon, TYY; Yuan, ZW; Li, L; Liu, L; Wang, B; Sun, XB; Huang, LM; Tou, JF; Ngan, ESW; Cherny, SS; Chan, KW; Lee, KH; Wang, W; Wong, KKY; Tam, PKH2008486
 
Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population [9]
Journal:
Gut
Publisher:
BMJ Publishing Group. The Journal's web site is located at http://gut.bmjjournals.com/
Miao, X; GarciaBarceló, MM; So, MT; Leon, TYY; Lau, DKC; Liu, TT; Chan, EKW; Lan, LCL; Wong, KKY; Lui, VCH; Tam, PKH2007291
 
Evaluation of the thyroid transcription factor-1 gene (TITF1) as a Hirschsprung's disease locus
Journal:
Annals of Human Genetics
Publisher:
Blackwell Publishing Ltd. The Journal's web site is located at http://www.blackwellpublishing.com/journals/AHG
GarciaBarceló, MM; Lau, DKC; Ngan, ESW; Leon, TYY; Liu, TT; So, MT; Miao, XP; Lui, VCC; Wong, KKY; Ganster, RW; Cass, DT; Croaker, GDH; Tam, PKH2007207
 
Population differences in the polyalanine domain and 6 new mutations in HLXB9 in patients with Currarino syndrome
Journal:
Clinical Chemistry
Publisher:
American Association for Clinical Chemistry, Inc. The Journal's web site is located at http://www.clinchem.org
GarciaBarceló, M; So, MT; Lau, DKC; Leon, TYY; Yuan, ZW; Cai, WS; Lui, VCH; Fu, M; Herbrick, JA; Gutter, E; Proud, V; Li, L; PierreLouis, J; Aleck, K; Van Heurn, E; Belloni, E; Scherer, SW; Tam, PKH2006253
 
Novel RET mutation produces a truncated RET receptor lacking the intracellular signaling domain in a 3-generation family with Hirschsprung disease
Journal:
Clinical Chemistry
Publisher:
American Association for Clinical Chemistry, Inc. The Journal's web site is located at http://www.clinchem.org
Lui, VCH; Leon, TYY; GarciaBarcelo, MM; Ganster, RW; Chen, BLS; Hutson, JM; Tam, PKH2005125
 
TTF-1 and RET promoter SNPs: Regulation of RET transcription in Hirschsprung's disease
Journal:
Human Molecular Genetics
Publisher:
Oxford University Press. The Journal's web site is located at http://hmg.oxfordjournals.org/
GarciaBarcelo, M; Ganster, RW; Lui, VCH; Leon, TYY; So, MT; Lau, AMF; Fu, M; Sham, MH; Knight, J; Zannini, MS; Sham, PC; Tam, PKH2005228
 
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