全部文献期刊学位论文会议报纸专利标准年鉴图书|学者科研项目
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作者:Patrick Ho-Yu Chung , Edwin Kin-Wai Chan ...
来源:[J].BMC Medical Genomics(IF 3.466), 2017, Vol.10 (1)Springer
摘要:Biliary Atresia (BA) is rare and genetically complex, and the pathogenesis is elusive. The disease course is variable and can represent heterogeneity, which hinders effective disease management. Deciphering the BA phenotypic variance is a priority in clinics and can be achieved b...
作者:Patrick Ho-Yu Chung , Xue-Lai Liu ...
来源:[J].PLoS ONE(IF 3.73), 2017, Vol.6 (1)DOAJ
摘要:The primary pathology of Hirschsprung's disease (HSCR, colon aganglionosis) is the absence of ganglia in variable lengths of the hindgut, resulting in functional obstruction. HSCR is attributed to a failure of migration of the enteric ganglion precursors along the developing...
作者:Patrick Ho-Yu Chung , Xue-Lai Liu ...
来源:[J].PLoS Genetics(IF 8.694), 2017, Vol.8 (5)DOAJ
摘要:Hirschsprung disease (HSCR) is a congenital disorder characterized by aganglionosis of the distal intestine. To assess the contribution of copy number variants (CNVs) to HSCR, we analysed the data generated from our previous genome-wide association study on HSCR patients, wh...
作者:Patrick Ho-Yu Chung , Ivy Hau-Yee Chan ...
来源:[J].Journal of Hepatology(IF 9.858), 2013, Vol.59 (6), pp.1285-1291Elsevier
摘要:Background & Aims(#br)Biliary atresia (BA) is a rare and most severe cholestatic disease in neonates, but the pathogenic mechanisms are unknown. Through a previous genome wide association study (GWAS) on Han Chinese, we discovered association of the 10q24.2 region encompassi...
作者:Patrick Ho-Yu Chung , Xue-Lai Liu ...
来源:[J].Human Genetics(IF 4.633), 2012, Vol.131 (1), pp.67-76Springer
摘要:Abstract(#br)Hirschsprung disease (HSCR, congenital colon aganglionosis) is a relatively common complex genetic condition caused by abnormal development of the enteric nervous system (ENS). Through a recent genome-wide association study conducted on Chinese HSCR patients, we iden...
作者:Patrick Ho-Yu Chung , Edwin Kin-Wai Chan ...
来源:[J].2017, Vol.10 (1), pp.22BMC
摘要:Biliary Atresia (BA) is rare and genetically complex, and the pathogenesis is elusive. The disease course is variable and can represent heterogeneity, which hinders effective disease management. Deciphering the BA phenotypic variance is a priority in clinics and can be achie...
作者:Patrick Ho-yu Chung , Pek-lan Khong ...
来源:[J].Journal of Pediatric Surgery(IF 1.383), 2009, Vol.44 (10), pp.1892-1898Elsevier
摘要:Abstract(#br)Purpose(#br)The combination of partial absence of the sacrum, anorectal anomalies, and presacral mass constitutes Currarino syndrome (CS), which is associated with mutations in MNX1 motor neuron and pancreas homeobox 1 (previously HLXB9 ).(#br)Here, we report on the ...
作者:Patrick Ho-Yu Chung , Xue-Lai Liu ...
来源:[J].PLOS Genetics(IF 8.694), 2012, Vol.8 (5)PLOS
摘要:Hirschsprung disease (HSCR) is a congenital disorder characterized by aganglionosis of the distal intestine. To assess the contribution of copy number variants (CNVs) to HSCR, we analysed the data generated from our previous genome-wide association study on HSCR patients, wh...

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