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Molecular basis of von Hippel-Lindau syndrome in Chinese patients

Chinese Medical Journal 2011年第2期124卷 237-241页

作者： SIU wai-kwan MA Ronald Ching-wan LAM Ching-wan MAK Chloe Miu YUEN Yuet-ping LO Fai-man Ivan CHAN Kin-wan LAM Siu-fung LING Siu-cheung TONG Sui-fan SO Wing-yee CHOW Chun-chung TANG Mary Hoi-yin TAM wing-hung CHAN Albert Yan-wo Department of Pathology Princess Margaret Hospital Hong Kong China Department of Medicine & Therapeutics The Chinese University of Hong Kong Prince of Wales Hospital Hong Kong China Department of Pathology Li Ka Shing Faculty of Medicine The University of Hong Kong Queen Mary Hospital Hong Kong China Clinical Genetic Service Department of Health Hong Kong China Department of Medicine and Geriatrics Princess Margaret Hospital Hong Kong China Department of Paediatrics and Adolescent Medicine Princess Margaret Hospital Hong Kong China Department of Obstetrics & Gynaecology Tsan Yuk Hospital Hong Kong China Department of Obstetrics & Gynaecology The Chinese University of Hong Kong Prince of Wales Hospital Hong Kong China

Background Von Hippel-Lindau （VHL） syndrome is an autosomal dominant familial cancer syndrome predisposing the affected individuals to multiple tumours in various *** genetic basis of VHL in Southern Chinese is largely *** this study,we characterized the mutation spectrum of VHL in nine unrelated Southern Chinese *** Nine probands with clinical features of VHL,two symptomatic and eight asymptomatic family members were included in this *** diagnosis was performed twice for one *** probands had only isolated bilateral *** VHL gene was screened for mutations by polymerase chain reaction,direct sequencing and multiplex ligation-dependent probe amplification （MLPA）.Results The nine probands and the two symptomatic family members carried heterozygous germline *** different VHL mutations were identified in the nine *** splicing mutation,NM_000551.2：c.463＋1G〉T,was *** other seven VHL mutations,c.233A〉G [***78Ser],c.239G〉T [***80lle],c.319C〉G [***107Gly],c.481C〉T [***161X],c.482G〉A [***161GIn],c.499C〉T [***167Trp] and an exon 2 deletion,had been previously *** asymptomatic family members were positive for the mutation and the other five tested *** prenatal diagnosis,the fetuses were positive for the *** Genetic analysis could accurately confirm VHL syndrome in patients with isolated tumours such as sporadic phaeochromocytoma or epididymal papillary *** detection in asymptomatic family members allows regular tumour surveillance and early intervention to improve their ***-based diagnosis can have an important impact on clinical management for VHL families.

关键词： von Hippel-Lindau syndrome VHL gene Chinese VHL mutations

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ISIS:A Trilingual Conversational System with Learning Capabilities and Combined Interaction and Delegation Dialogs

ISIS:A Trilingual Conversational System with Learning Capabi...

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第六届全国人机语音通讯学术会议

作者： Helen Meng, yee Fong Wong, Cheong Chat Chan, Shuk Fong Chan, Chi Kin Keung, Kai chung Siu, Tien Ying Fung, wai Ching Tsui, Ke Chen, Lan Wang, Ting Yao Wu, Xiaolong Li, Tan Lee, Yiu Wing WongP. C. Ching and Huisheng ChiHuman-Computer Communications Laboratory,Digital Signal Processing Laboratory,The Chinese University of Hong Kong,Shatin, N.T., Hong Kong SAR, ChinaNational Key Laboratory for Machine Perception,Peking UniversityBeijing, China

ISIS, which abbreviates Intelligent Speech for InformationSystems, is a trilingual spoken dialog system (SDS) for thefinancial *** handles two dialects of Chinese(Cantonese and Putonghua), as well as English—thepredominant languages in our region. The system supportsspoken language queries regarding stock market informationand simulated personal portfolios. Real-time information isretrieved directly from a dedicated Reuters satellite *** a system test-bed for our work in multilingualspeech recognition and generation, speader authentication,language understanding and dialog modeling. Furthermore,ISIS supports our new explorations in: (i) CORBA‘sinteroperability and scalability for SDS development, (ii)asynchronous human-computer interaction by delegation toKQML software agents;(iii) switching between onlineinteraction and offline delegation in a single dialog thread,and (iv) automatic incorporation of newly listed stocks toexpand our system’s knowledge base.

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