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Kun Xia

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Qi-ying Sun; Ji-feng Guo; Wei-wei Han; Qian Pan; Lei Wang; Kun Xia; Xin-xiang Yan; Ling-yan Yao; Xing Zuo; Bei-sha Tang
Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China.
Wen-Juan Guan; Ji-Feng Guo; Hong Jiang; Jia-Da Li; Yu-Tao Liu; Yan-Tao Ma; Lu Shen; Jun-Ling Wang; Kun Xia; Ying Zhou; Bei-sha Tang
Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis.
Zhimin Xiong; Xiaojuan Xu; Jinjie Xue; Lusi Zhang; Dengming Chen; Zhengmao Hu; Wei Li; Yanmei Lu; Sanchuan Luo; Hao Peng; Kun Xia
Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports.

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2013: Qi-ying Sun; Ji-feng Guo; Wei-wei Han; Qian Pan; Lei Wang; Kun Xia; Xin-xiang Yan; Ling-yan Yao; Xing Zuo; Bei-sha Tang
Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2013;20(2):217-9.
2013: Wen-Juan Guan; Ji-Feng Guo; Hong Jiang; Jia-Da Li; Yu-Tao Liu; Yan-Tao Ma; Lu Shen; Jun-Ling Wang; Kun Xia; Ying Zhou; Bei-sha Tang
Spinocerebellar ataxia type 35 (SCA35)-associated transglutaminase 6 mutants sensitize cells to apoptosis.
Biochemical and biophysical research communications 2013;430(2):780-6.
2013: Zhimin Xiong; Xiaojuan Xu; Jinjie Xue; Lusi Zhang; Dengming Chen; Zhengmao Hu; Wei Li; Yanmei Lu; Sanchuan Luo; Hao Peng; Kun Xia
Hutchinson-Gilford progeria syndrome accompanied by severe skeletal abnormalities in two Chinese siblings: two case reports.
Journal of medical case reports 2013;7(1):63.
2013: Ya-Fang Zhou; Jing-Wei Chi; Juan Du; Hong Jiang; Li-Fang Lei; Shu-sheng Liao; Ying-Ying Luo; Bei-sha Tang; Jian-guang Tang; Jun-Ling Wang; Kun Xia; Lu Shen
SUMO-1 modification on K166 of polyQ-expanded ataxin-3 strengthens its stability and increases its cytotoxicity.
PloS one 2013;8(1):e54214.
2012: Yao-wen Wang; Kun Xia; Ding-hua Xie; Tuan-fang Yin; Ji-hao Ren; Shu-hui Wang; Li-hua Li
Effect of mitomycin on normal dermal fibroblast and HaCat cell: an in vitro study.
Journal of Zhejiang University. Science. B 2012;13(12):997-1005.
2012: Yu-Tao Liu; Lu Shen; Yu-Ting Shi; Bei-sha Tang; Jun-Ling Wang; Kun Xia; Xin-Xiang Yan; Ying Zhou; Wen-Juan Guan; Hong Jiang
Spinocerebellar ataxia type 23 is an uncommon SCA subtype in the Chinese Han population.
Neuroscience letters 2012;528(1):51-4.
2012: Changbei Ma; Hanchun Chen; Rui Han; Kun Xia; Weimin Zeng; Jianhua Tang
Label-free highly sensitive detection of telomerase activity in cancer cell by chemiluminescence imaging.
Molecular and cellular probes 2012;26(5):212-4.
2012: Dandan Jia; Zhao Chen; Yuting Shi; Zhanfang Sun; Beisha Tang; Junling Wang; Kun Xia; Li Zhang; Hong Jiang
Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds.
The International journal of neuroscience 2012;122(10):560-2.
2012: Hui Guo; Yiqun He; Zhengmao Hu; Yalan Liu; Zhigao Long; Lina Lu; Qian Pan; Yu Peng; Xinying Xiang; Zhimin Xiong; Xiaojuan Xu; Guanglei Xun; Lusi Zhang; Jingping Zhao; Kun Xia
Disruption of Contactin 4 in two subjects with autism in Chinese population.
Gene 2012;505(2):201-5.
2012: Ji-feng Guo; Kai Li; Zhan-yun Lv; Qi-ying Sun; Jin-yong Tian; Kun Xia; Xin-xiang Yan; Ri-li Yu; Yu-han Zhang; Bei-sha Tang
VPS35 gene variants are not associated with Parkinson's disease in the mainland Chinese population.
Parkinsonism & related disorders 2012;18(8):983-5.
2012: Li-xia Luo; Qian Pan; Beisha Tang; Kun Xia; Hong Jiang
[Spinal muscular atrophy mimicking myotonic dystrophy: a case report and clinical, pathological and genetic analysis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2012;29(4):455-8.
2012: Hao Peng; Wei Su; Bing Wang; Kun Xia; Zhiguo Xie; Zhimin Xiong; Xiaojuan Xu; Jinjie Xue; Yuhui Zhang; Ding Zhao; Zhenxin Guo; Zhigao Long; Zhengmao Hu
A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.
Gene 2012;502(2):168-71.
2012: Zhengmao Hu; Yehong Kuang; Fangfang Li; Wei Li; Deyuan Liu; Yalan Liu; Lina Lu; Qian Pan; Yu Peng; Juan Su; Beisha Tang; Lisha Wu; Zhiguo Xie; Zhimin Xiong; Xiaojuan Xu; Jianglin Zhang; Xiang Chen; Kun Xia
Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population.
Human genetics 2012;131(7):1269-74.
2012: Zhao Chen; Xiaohui Li; Qian Pan; Yuting Shi; Zhanfang Sun; Beisha Tang; Junling Wang; Kun Xia; Li Zhang; Hong Jiang
Spinocerebellar ataxia type 27 (SCA27) is an uncommon cause of dominant ataxia among Chinese Han population.
Neuroscience letters 2012;520(1):16-9.
2012: Ya-jing Zhan; Xiao-hong Zi; Zheng-mao Hu; Shun-xiang Huang; Lan Li; Lin Li; Xiao-bo Li; Xi-gui Li; Qian Pan; Bei-sha Tang; Kun Xia; Ru-xu Zhang
[Analysis of CX32 gene mutation and related clinical features in Chinese Han Charcot-Marie-Tooth families].
Zhonghua yi xue za zhi 2012;92(21):1463-7.
2012: Kai Li; Qian Li; Zhan-yun Lv; Qi-ying Sun; Bei-sha Tang; Kun Xia; Xin-xiang Yan; Ri-li Yu; Ji-feng Guo
Association study between two novel single nucleotide polymorphisms and sporadic Parkinson's disease in Chinese Han population.
Neuroscience letters 2012;517(1):56-9.
2012: Yalan Liu; Lina Lu; Yu Peng; Lu Xia; Zhimin Xiong; Xiaojuan Xu; Guanglei Xun; Jingping Zhao; Zhengmao Hu; Wei Li; Deyuan Liu; Kun Xia
Mutation analysis of the NRXN1 gene in a Chinese autism cohort.
Journal of psychiatric research 2012;46(5):630-4.
2012: Z Xiong; X Xu; J Xue; L Zhang; X Chen; Z Hu; W Li; S Luo; H Peng; Kun Xia
Novel FLG mutations associated with ichthyosis vulgaris in the Chinese population.
Clinical and experimental dermatology 2012;37(2):177-80.
2012: Hua Zhang; Jing An; Hongsheng Chen; Chufeng He; Lu Jiang; Wen Jiang; Jia-Da Li; Hunjin Luo; Lingyun Mei; Lin Sun; Kun Xia; Yong Feng
Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
Human genetics 2012;131(3):491-503.
2011: Ru-xu Zhang; Xiao-hong Zi; Ya-jing Zhan; Lin Li; Lan Li; Ting Liu; Qian Pan; Kun Xia; Xi Yang; Xiao-bo Li; San-mei Liu; Beisha Tang
[Cellular expression of (R127W)HSPB1 and its co-localization with neurofilament light chain].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2011;28(5):496-500.
2011: Lu Jiang; Yalan Liu; Liwei Long; Lingyun Mei; Kun Xia; Jingjie Xue; Hongsheng Chen; Yong Feng; Zhengmao Hu; Chufeng He
Gene localization in a Chinese family with autosomal dominant non-syndromic deafness.
Acta oto-laryngologica 2011;131(10):1061-8.
2011: Hui Guo; Zhengmao Hu; Jingping Zhao; Kun Xia
Genetics of autism spectrum disorders.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2011;36(8):703-11.
2011: Juan Du; Ya-Cen Hu; Hong Jiang; Ying-Ying Luo; Bei-sha Tang; Kun Xia; Zi-Xiong Zhan; Guo-hua Zhao; Chong Chen; Lu Shen
Expansion of the phenotypic spectrum of SPG6 caused by mutation in NIPA1.
Clinical neurology and neurosurgery 2011;113(6):480-2.
2011: Xuewei Zhang; Jifeng Guo; Bing Liao; Kun Xia; Hainan Zhang; Beisha Tang
Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2011;36(6):490-7.
2011: Junling Wang; Kun Xia; Qian Xu; Jie Zhou; Lifang Lei; Yutao Liu; Qian Pan; Lu Shen; Beisha Tang; Wenjuan Guan; Hong Jiang
Spinocerebellar ataxias in mainland China: an updated genetic analysis among a large cohort of familial and sporadic cases.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2011;36(6):482-9.
2011: Jia Liu; Qi-Ying Sun; Bei-sha Tang; Liang Hu; Ren-He Yu; Lei Wang; Chang-He Shi; Xin-Xiang Yan; Qian Pan; Kun Xia; Ji-feng Guo
PITX3 gene polymorphism is associated with Parkinson's disease in Chinese population.
Brain research 2011;1392():116-20.
2011: Lu Jiang; Hongsheng Chen; Wen Jiang; Zhengmao Hu; Lingyun Mei; Jingjie Xue; Chufeng He; Yalan Liu; Kun Xia; Yong Feng
Novel mutations in the SOX10 gene in the first two Chinese cases of type IV Waardenburg syndrome.
Biochemical and biophysical research communications 2011;408(4):620-4.
2011: Ling-Yan Yao; Ji-feng Guo; Lei Wang; Ren-He Yu; Qi-Ying Sun; Qian Pan; Kun Xia; Bei-sha Tang; Lu Shen
LRRK2 Pro755Leu variant in ethnic Chinese population with Parkinson's disease.
Neuroscience letters 2011;495(1):35-8.
2011: Zhengmao Hu; Changhong Yu; Jingzhi Li; Yiqiang Wang; Deyuan Liu; Xinying Xiang; Wei Su; Qian Pan; Lixin Xie; Kun Xia
A novel locus for congenital simple microphthalmia family mapping to 17p12-q12.
Investigative ophthalmology & visual science 2011;52(6):3425-9.
2011: Yaping Yan; Dantao Peng; Jun Tian; Jingwei Chi; Jieqiong Tan; Xinzhen Yin; Jiali Pu; Kun Xia; Baorong Zhang
Essential sequence of the N-terminal cytoplasmic localization-related domain of huntingtin and its effect on huntingtin aggregates.
Science China. Life sciences 2011;54(4):342-50.
2011: Lei Wang; Ji-feng Guo; Li-luo Nie; Linzi Luo; Xing Zuo; Lu Shen; Hong Jiang; Xin-xiang Yan; Kun Xia; Qian Pan; Bei-sha Tang
Case-control study of the UCH-L1 S18Y variant in sporadic Parkinson's disease in the Chinese population.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2011;18(4):541-4.
2010: Jun Ling Wang; Xu Yang; Kun Xia; Zheng Mao Hu; Ling Weng; Xin Jin; Hong Jiang; Peng Zhang; Lu Shen; Ji Feng Guo; Nan Li; Ying Rui Li; Li Fang Lei; Jie Zhou; Juan Du; Ya Fang Zhou; Qian Pan; Jian Wang; Jun Wang; Rui Qiang Li; Bei-sha Tang
TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing.
Brain : a journal of neurology 2010;133(Pt 12):3510-8.
2010: Qian Xu; Dandan Jia; Junling Wang; Jifeng Guo; Hong Jiang; Lifang Lei; Lu Shen; Qian Pan; Kun Xia; Xinxiang Yan; Beisha Tang
Genetic analysis of Spinocerebellar ataxia type 17 in Parkinson's disease in Mainland China.
Parkinsonism & related disorders 2010;16(10):700-2.
2010: Kun Xia; Hong Ma; Hui Xiong; Qian Pan; Liangqun Huang; Danling Wang; Zhuohua Zhang
Trafficking abnormality and ER stress underlie functional deficiency of hearing impairment-associated connexin-31 mutants.
Protein & cell 2010;1(10):935-43.
2010: Jun-ling Wang; Yun-qin Wu; Li-fang Lei; Lu Shen; Hong Jiang; Ya-fang Zhou; Ji-ping Yi; Jie Zhou; Xin-xiang Yan; Qian Pan; Kun Xia; Bei-sha Tang
[Polynucleotide repeat expansion of nine spinocerebellar ataxia subtypes and dentatorubral-pallidoluysian atrophy in healthy Chinese Han population].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010;27(5):501-5.
2010: Hui Guo; Dan Peng; Min Xu; Jinjie Xue; Lina Lu; Xiaojuan Xu; Yalan Liu; Zhimin Xiong; Qian Pan; Zhengmao Hu; Kun Xia
Report of two FOP cases with 617G>A mutation in the ACVR1 gene from Chinese population.
Clinical dysmorphology 2010;19(4):206-8.
2010: Lin-zi Luo; Qian Xu; Ji-feng Guo; Lei Wang; Chang-he Shi; Jiao-hua Wei; Zhi-gao Long; Qian Pan; Bei-sha Tang; Kun Xia; Xin-xiang Yan
FBXO7 gene mutations may be rare in Chinese early-onset Parkinsonism patients.
Neuroscience letters 2010;482(2):86-9.
2010: Xing Zuo; Hong Jiang; Ji-feng Guo; Ren-He Yu; Qi-Ying Sun; Liang Hu; Lei Wang; Ling-Yan Yao; Lu Shen; Qian Pan; Xiao-Xin Yan; Kun Xia; Bei-sha Tang
Screening for two SNPs of LINGO1 gene in patients with essential tremor or sporadic Parkinson's disease in Chinese population.
Neuroscience letters 2010;481(2):69-72.
2010: Nan Li; Jie Zhang; Ji-feng Guo; Xiao-Xin Yan; Kun Xia; Bei-sha Tang
Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.
Neuroscience letters 2010;480(3):211-4.
2010: Ru-xu Zhang; Guo-hua Zhao; Xiao-hong Zi; Kun Xia; Peng Guo; Zheng-mao Hu; San-Mei Liu; Ting Liu; Zhi-Jun Ren; Bei-sha Tang
[Mutation analysis of LITAF, RAB7, LMNA and MTMR2 genes in Chinese Charcot-Marie-Tooth disease.].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2010;32(8):817-23.
2010: Hongsheng Chen; Lu Jiang; Zhiguo Xie; Lingyun Mei; Chufeng He; Zhengmao Hu; Kun Xia; Yong Feng
Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
Biochemical and biophysical research communications 2010;397(1):70-4.
2010: Qi-Ying Sun; Ji-feng Guo; Lei Wang; Ren-He Yu; Xing Zuo; Ling-Yan Yao; Qian Pan; Kun Xia; Bei-sha Tang
Glucocerebrosidase gene L444P mutation is a risk factor for Parkinson's disease in Chinese population.
Movement disorders : official journal of the Movement Disorder Society 2010;25(8):1005-11.
2010: Zhong-chun Yang; Zi-an Xiao; Ding-hua Xie; Kun Xia
[Aberrant expression pattern of a novel mutation in connexin 26 gene resulting in autosomal recessive deafness].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2010;27(3):241-5.
2010: Xiaoping Li; Zhengmao Hu; Yiqun He; Zhimin Xiong; Zhigao Long; Yu Peng; Fengxiao Bu; Jie Ling; Guanglei Xun; Xiaoyun Mo; Qian Pan; Jingping Zhao; Kun Xia
Association analysis of CNTNAP2 polymorphisms with autism in the Chinese Han population.
Psychiatric genetics 2010;20(3):113-7.
2010: Lei Wang; Ji-feng Guo; Wen-wen Zhang; Qian Xu; Xing Zuo; Chang-he Shi; Lin-zi Luo; Jia Liu; Liang Hu; Ya-cen Hu; Lu She; Hong Jiang; Xiao-Xin Yan; Kun Xia; Qian Pan; Bei-sha Tang
Novel GIGYF2 gene variants in patients with Parkinson's disease in Chinese population.
Neuroscience letters 2010;473(2):131-5.
2010: Nan Li; Haiyan Li; Hong Jiang; Lu Shen; Xinxiang Yan; Jifeng Guo; Yanmin Song; Qian Yang; Yaqin Wang; Xiaobo Li; Ruping Xiang; Xiaohong Zi; Xiaoyan Long; Zhengmao Hu; Qian Pan; Kun Xia; Beisha Tang
Mutation detection in candidate genes for benign familial infantile seizures on a novel locus.
The International journal of neuroscience 2010;120(3):217-21.
2010: Xiaoyun Mo; Deyuan Liu; Wei Li; Zhengmao Hu; Yiqiao Hu; Jingzhi Li; Jifeng Guo; Beisha Tang; Zhuohua Zhang; Yi Bai; Kun Xia
Genetic screening for mutations in the Nrdp1 gene in Parkinson disease patients in a Chinese population.
Parkinsonism & related disorders 2010;16(3):222-4.
2010: Qian Xu; Xiaohui Li; Junling Wang; JiPing Yi; Lifang Lei; Lu Shen; Hong Jiang; Kun Xia; Qian Pan; Beisha Tang
Spinocerebellar ataxia type 11 in the Chinese Han population.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2010;31(1):107-9.
2010: Deyuan Liu; Zhengmao Hu; Yu Peng; Changhong Yu; Yalan Liu; Xiaoyun Mo; Xiaoping Li; Lina Lu; Xiaojuan Xu; Wei Su; Qian Pan; Kun Xia
A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.
Molecular vision 2010;16():2653-8.
2010: Kun Xia; Hui Xiong; Yeonsook Shin; Danling Wang; Tom Deerinck; Hiroto Takahashi; Mark H Ellisman; Stuart A Lipton; Gang Tong; Giannina Descalzi; Dongxian Zhang; Min Zhuo; Zhuohua Zhang
Roles of KChIP1 in the regulation of GABA-mediated transmission and behavioral anxiety.
Molecular brain 2010;3():23.
2009: Ru-xu Zhang; Min Fu; Xiao-hong Zi; Xiao-bo Li; Fu-feng Zhang; Kun Xia; Qian Pan; Zheng-mao Hu; Bei-sha Tang
[Mutation analysis of MFN2 gene in Chinese patients with Charcot-Marie-Tooth disease].
Zhonghua yi xue za zhi 2009;89(47):3324-7.
2009: Lei Wang; Ji-Feng Guo; Li-Luo Nie; Hai-Nan Zhang; Lu Shen; Hong Jiang; Qian Pan; Kun Xia; Bei-sha Tang; Xin-xiang Yan
A new variant of the ATP13A2 gene in Chinese patients with early-onset parkinsonism.
Chinese medical journal 2009;122(24):3082-5.
2009: Junling Wang; Qian Xu; Lifang Lei; Lu Shen; Hong Jiang; Xiaohui Li; Yafang Zhou; Jiping Yi; Jie Zhou; Xinxiang Yan; Qian Pan; Kun Xia; Beisha Tang
[Studies on the CAG repeat expansion in patients with hereditary spinocerebellar ataxia from Chinese Han].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2009;26(6):620-5.
2009: Jun-Ling Wang; Bin Xiao; Xiang-Xiang Cui; Ji-feng Guo; Li-Fang Lei; Xing-Wang Song; Lu Shen; Hong Jiang; Xin-xiang Yan; Qian Pan; Zhi-gao Long; Kun Xia; Bei-sha Tang
Analysis of SCA2 and SCA3/MJD repeats in Parkinson's disease in mainland China: genetic, clinical, and positron emission tomography findings.
Movement disorders : official journal of the Movement Disorder Society 2009;24(13):2007-11.
2009: Yin-guang Wang; Juan Du; Jun-ling Wang; Juan Chen; Chong Chen; Ying-ying Luo; Zhi-quan Xiao; Hong Jiang; Xin-xiang Yan; Kun Xia; Qian Pan; Bei-sha Tang; Lu Shen
Six cases of SCA3/MJD patients that mimic hereditary spastic paraplegia in clinic.
Journal of the neurological sciences 2009;285(1-2):121-4.
2009: Q Xu; X H Li; J L Wang; Hong Jiang; S Zhang; L F Lei; Lu Shen; Kun Xia; Qian Pan; Zhi-gao Long; Bei-sha Tang
Mutation analysis of the TATA box-binding protein (TBP) gene in Chinese Han patients with spinocerebellar ataxia.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2009;16(10):1374-5.
2009: Juan Du; Lu Shen; Guo-hua Zhao; Yin-guang Wang; Shu-sheng Liao; Chong Chen; Zhi-fan Zhou; Ying-ying Luo; Hong Jiang; Kun Xia; Bei-sha Tang
Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia.
Chinese medical journal 2009;122(17):2064-6.
2009: Xiao-ping Liu; J Ling; H Xiong; Xiao-Liu Shi; X Sun; Qian Pan; Zheng-mao Hu; Ling-qian Wu; Desheng Liang; Zhi-gao Long; He-ping Dai; Jia-hui Xia; Kun Xia
Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
Journal of the European Academy of Dermatology and Venereology : JEADV 2009;23(9):1079-82.
2009: Shen Zhang; Jun-ling Wang; Qian Xu; Xiao-hui Li; Li-fang Lei; Hong Jiang; Lu Shen; Xin-xiang Yan; Qian Pan; Kun Xia; Bei-sha Tang
[Detection of the CAG trinucleotide repeats of MJD1 gene by recombinant DNA technology].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2009;26(4):406-9.
2009: Xue-Ping Gao; Lin-Yan Su; Ai-ling Zhao; Xue-Rong Luo; Kun Xia
[Association of 14 polymorphisms in the five candidate genes and attention deficit hyperactivity disorder].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2009;11(8):617-22.
2009: Jing-Zhi Li; Yi-Qiao Hu; Shu-Hui Wang; Hong-Sheng Cheng; Qian Pan; Kun Xia; Zheng-mao Hu; Yong Feng
[Mutations of Cx26 gene in patients with NSHL and intracellular distribution of two mutants].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2009;31(7):705-12.
2009: Shuhui Wang; Zhengmao Hu; Zi'an Xiao; Qinglai Tang; Kun Xia; Xinming Yang
[GJB2 (connexin 26) gene mutation screen in patients with nonsydromic hearing loss in Hunan].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2009;34(6):498-503.
2009: Feng-Xiao Bu; Yu Peng; Shu-Hui Wang; Qiong Pan; Zheng-mao Hu; Hui-Yong Gong; Jing zhang; Ling-qian Wu; Desheng Liang; Qian Pan; Yong Feng; Kun Xia; Jia-hui Xia
[Mutation screening of 20 candidate genes located in chromo-some 5q31-5q32 for DFNA52 locus].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2009;31(1):43-9.
2009: Jin Jiang; Chongfei Jin; Wei Wang; Xiajing Tang; Xing-chao Shentu; Renyi Wu; Yao Wang; Kun Xia; Ke Yao
Identification of a novel splice-site mutation in MIP in a Chinese congenital cataract family.
Molecular vision 2009;15():38-44.
2008: Shu-sheng Liao; Lu Shen; Juan Du; Guo-hua Zhao; Xiao-yi Wang; Yi Yang; Zi-quan Xiao; Yi Yuan; Hong Jiang; Nan Li; He-dong Sun; Jun-ling Wang; Chun-yu Wang; Ya-fang Zhou; Xiao-yun Mo; Kun Xia; Bei-sha Tang
Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.
Journal of the neurological sciences 2008;275(1-2):92-9.
2008: Zian Xiao; Caiyun Zhang; Dinghua Xie; Yici Zeng; Xinming Yang; Kun Xia; Fuyou Liu; Boyun Huang
[The expressions and clinical significance of tumor suppressor gene CX26 in laryngeal squamous cell carcinoma].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2008;22(24):1107-11.
2008: Jun-Ling Wang; Hong Jiang; Shen Zhang; Qian Xu; Ya-Fang Zhou; Shu-Sheng Liao; Lu Shen; Xin-Xiang Yan; Huai-Xu Zhu; Qian Pan; Kun Xia; Bei-sha Tang
Lack of variation of ATTCT pentanucleotide repeats at ATXN10 gene between clinically diagnosed ataxia patients and normal individuals originated from Chinese Han.
Journal of genetics 2008;87(3):283-6.
2008: Jinjie Xue; Haiyan Zhu; Lingqian Wu; Desheng Liang; Qian Pan; Zhigao Long; Heping Dai; Kun Xia; Jiahui Xia
[Mutation screening of the dystrophin gene in 14 Chinese Duchenne/Becker muscular dystrophy patients without gross deletions].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2008;25(6):633-6.
2008: H Y Li; N Li; H Jiang; L Shen; J F Guo; R X Zhang; Kun Xia; Qian Pan; X H Zi; B S Tang
A novel genetic locus for benign familial infantile seizures maps to chromosome 1p36.12-p35.1.
Clinical genetics 2008;74(5):490-2.
2008: Ji-feng Guo; Bin Xiao; Bing Liao; xuewei zhang; Li-Luo Nie; Yu-Hu Zhang; Lu Shen; Hong Jiang; Kun Xia; Qian Pan; Xin-xiang Yan; Bei-sha Tang
Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism.
Movement disorders : official journal of the Movement Disorder Society 2008;23(14):2074-9.
2008: Xiao-ye Zheng; Mei Yang; Jie-qiong Tan; Qian Pan; Zhi-gao Long; He-ping Dai; Kun Xia; Jia-hui Xia; Zhuohua Zhang
Screening of LRRK2 interactants by yeast 2-hybrid analysis.
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2008;33(10):883-91.
2008: Junling Wang; Shen Zhang; Qian Xu; Xiaohui Li; Xingwang Song; Hong Jiang; Lu Shen; Xinxiang Yan; Qian Pan; Kun Xia; Beisha Tang
[Studies on the CTA/CTG trinucleotide repeats of ATXN8OS gene in Chinese Hans].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2008;25(5):511-4.
2008: Pan Qiong; Z Hu; Yong Feng; Qian Pan; Jiahui Xia; Kun Xia
Bioinformatics analysis of candidate genes and mutations in a congenital sensorineural hearing loss pedigree: detection of 52 genes for the DFNA52 locus.
The Journal of laryngology and otology 2008;122(10):1029-36.
2008: Hui-Yong Gong; Jing zhang; Zheng-mao Hu; Ling-qian Wu; Desheng Liang; Zhi-guo Xie; Qian Pan; Feng-Xiao Bu; Yu Peng; Kun Xia; Jia-hui Xia
[Mapping of pathogenic genes in two families with autosomal dominant ichthyosis vulgaris].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2008;30(7):843-50.
2008: Guo-hua Zhao; Zhi-jun Ren; Xiao-min Liu; Shu-jian Li; Peng Guo; Lu Shen; Kun Xia; Bei-sha Tang
[The clinical characteristics of a pedigree with incompletely penetrated autosomal dominant hereditary spastic paraplegia and its exclusion analysis of genetic loci].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2008;25(3):304-7.
2008: Cai-Yun Zhang; Zi-an Xiao; Yi-Ci Zeng; Xin-ming Yang; Ding-hua Xie; Kun Xia; Fu-You Liu; Bo-Yun Huang
[Expression of stathmin mRNA and protein in laryngeal squamous cell carcinoma and its clinical implication].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2008;43(4):291-5.
2008: Lu Wen; Desheng Liang; Ling-qian Wu; Fang Cai; Qian Pan; Zhi-gao Long; He-ping Dai; Kun Xia; Jia-hui Xia
Efficient protein expression from the endogenous RNA polymerase I promoter using a human ribosomal DNA targeting vector.
Biochemical and biophysical research communications 2008;367(4):846-51.
2008: Lingqian Wu; Zhigao Long; Desheng Liang; Naoki Harada; Qian Pan; Koh-ichiro Yoshiura; Kun Xia; Heping Dai; Norio Niikawa; Jiahui Xia
Pre- and postnatal overgrowth in a patient with proximal 4p deletion.
American journal of medical genetics. Part A 2008;146A(6):791-4.
2008: Guo-hua Zhao; Zheng-mao Hu; Lu Shen; Hong Jiang; Zhi-jun Ren; Xiao-min Liu; Kun Xia; Peng Guo; Qian Pan; Bei-sha Tang
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
Chinese medical journal 2008;121(5):430-4.
2008: Haiyan Li; Nan Li; Lu Shen; Hong Jiang; Qian Yang; Yanmin Song; Jifeng Guo; Kun Xia; Qian Pan; Beisha Tang
A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions.
Epilepsy research 2008;79(1):1-5.
2007: Guo-hua Zhao; Peng Guo; Zhi-jun Ren; Xiao-min Liu; Lu Shen; Kun Xia; Bei-sha Tang
[Gene screening in five Chinese families with hereditary spastic paraplegia with thin corpus callosum].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2007;24(6):677-80.
2007: Li Xie; Qi-hua Gong; Zhi-guo Xie; Zong-min Liang; Zheng-mao Hu; Kun Xia; Jia-hui Xia; Yi-feng Yang
Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family.
Chinese medical journal 2007;120(19):1694-9.
2007: Wei Li; Zheng-mao Hu; Zhi-guo Xie; Hong-Bo He; Qian Pan; Kun Xia; Jia-hui Xia
[Novel mutation of Y271H in EXT1 gene causes multiple exostoses].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2007;32(4):546-50.
2007: Jing Li; Bei-sha Tang; Ji-feng Guo; Yu-hu Zhang; Xin-xiang Yan; Ying-feng Mu; xuewei zhang; Kun Xia; Qian Pan; Lu Shen; Hong Jiang
[Mutation detection of parkin gene by denaturing high performance liquid chromatography].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2007;24(4):449-52.
2007: Zheng-mao Hu; Zhi-guo Xie; Ling-qian Wu; Desheng Liang; Hai-yan Zhu; Qian Pan; Zhi-gao Long; He-ping Dai; Jia-hui Xia; Kun Xia
[Mapping of pathogenic genes in a pedigree with autosomal dominant ichthyosis vulgaris].
Zhongguo yi xue ke xue yuan xue bao. Acta Academiae Medicinae Sinicae 2007;29(3):302-6.
2007: Zhi-cheng Ma; Desheng Liang; Zhi-gang Xue; Qiao Zeng; Zhi-gao Long; Ling-qian Wu; Qian Pan; He-ping Dai; Kun Xia; Jia-hui Xia
[Biological characteristics and safety evaluation of endothelial progenitor cells from the umbilical cord blood].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2007;32(3):466-72.
2007: Jing Li; Bei-sha Tang; Ji-feng Guo; Yu-hu Zhang; Zhi-guo Xie; Xin-xiang Yan; Lu Shen; Hong Jiang; xuewei zhang; Kun Xia; Qian Pan
[Mutation analysis of GCH1 gene in Chinese patients with dopa responsive dystonia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2007;24(3):302-4.
2007: Lu Zhou; Ling-qian Wu; Desheng Liang; Qian Pan; Zhi-gao Long; He-ping Dai; Juan Li; Fang Cai; Kun Xia; Jia-hui Xia
[Identification of the origin of marker chromosome by comparative genomic hybridization].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2007;32(2):264-7.
2007: Yue-Li Wu; Ling-qian Wu; Yan-Ping Li; Dong-E Liu; Qiao Zeng; Hai-yan Zhu; Qian Pan; Desheng Liang; Hao Hu; Zhi-gao Long; Juan Li; He-ping Dai; Kun Xia; Jia-hui Xia
[Preimplantation genetic diagnosis of Duchenne muscular dystrophy by single cell triplex PCR].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2007;32(2):246-51.
2007: Lan-Ping Hu; Neng-Hui Liu; Qian Pan; Desheng Liang; Zhi-gao Long; Hao Hu; Hai-yan Zhu; He-ping Dai; Fang Cai; Ling-qian Wu; Kun Xia; Jia-hui Xia
[Azoospermia factor microdeletion on Y chromosome in patients with idiopathic azoospermia or severe oligozoospermia].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2007;32(2):241-5.
2007: Zong-min Liang; Hong Luo; Yi-feng Yang; Xiong-hao Liu; Li Xie; Zhi-gang Xue; Dong-xu Hu; Desheng Liang; Kun Xia; Jia-hui Xia
Targeted expression of vascular endothelial growth factor 165 in the hrDNA locus mediated by hrDNA targeting vector.
Chinese medical journal 2007;120(5):427-30.
2007: Xin-Zhen Yin; Bao-Rong Zhang; Mei-Ping Ding; Hao Zhang; Kun Xia; Zheng-mao Hu
[Pathological features and gene mutation analysis in two pedigrees of diffuse palmoplantar keratoderma].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2007;29(3):301-5.
2007: Xin Yi; Mao-Jin Yao; Yong-Jun Wang; Jian-guang Tang; Wen-Feng Ning; Xiang-Ping Wang; Shi-Quan Zhou; Chen-Jie Li; Fei Wang; Kun Xia; Xiao-Liu Shi
[Sequence polymorphism of the promoter region of gene STK11 in patients with Peutz-Jeghers syndrome].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2007;32(1):74-7.
2007: Baorong Zhang; Zhirong Liu; Guohua Zhao; Xin Xie; Xinzhen Yin; Zhengmao Hu; Shanhu Xu; Qian Li; Fei Song; Jun Tian; Wei Luo; Meiping Ding; Jinfu Yin; Kun Xia; Jiahui Xia
Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.
Molecular vision 2007;13():1674-9.
2007: Hao Hu; Lingqian Wu; Yong Feng; Qian Pan; Zhigao Long; Juan Li; Heping Dai; Kun Xia; Desheng Liang; Norio Niikawa; Jiahui Xia
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.
Journal of human genetics 2007;52(6):492-7.
2006: Ru-xu Zhang; Bei-sha Tang; Xiao-hong Zi; Kun Xia; Qian Pan; Fu-feng Zhang; Shu-jian Li; Guo-hua Zhao; Ke Guo
[Study on aggregate formation mechanism of HSPB8 gene mutation resulting in CMT2L].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2006;23(6):601-4.
2006: Jinsong Tang; Xiaogang Chen; Xijia Xu; Renrong Wu; Jingping Zhao; Zhengmao Hu; Kun Xia
Significant linkage and association between a functional (GT)n polymorphism in promoter of the N-methyl-D-aspartate receptor subunit gene (GRIN2A) and schizophrenia.
Neuroscience letters 2006;409(1):80-2.
2006: Bao-Rong Zhang; Fei Song; Xin-Zhen Yin; Kun Xia; Jun Tian; Jian-zheng Huang; Jia-hui Xia
[IT15 gene analysis in two pedigrees of Huntington's disease].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2006;28(11):1345-9.
2006: Zi-an Xiao; Ding-hua Xie; Peng Hu; Kun Xia; Fang Cai; Qian Pan
[Functional interaction of the C-terminal of Nogo protein with connexin 26 and the expression of Nogo's mRNA in the murine inner ear].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2006;23(5):492-6.
2006: Hai-yan Zhu; Ling-qian Wu; Qian Pan; Desheng Liang; Zhi-gao Long; He-ping Dai; Kun Xia; Jia-hui Xia
Analysis of PAX6 gene in a Chinese aniridia family.
Chinese medical journal 2006;119(16):1400-2.
2006: Hai-yan Li; Bei-sha Tang; Xin-xiang Yan; Ji-feng Guo; Lu Shen; Yan-min Song; Hong Jiang; Kun Xia; Zhi-guo Xie; Qi-an Yang
[Clinical and mutational analysis of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2006;23(4):374-7.
2006: Hai-yan Zhu; Ling-qian Wu; Qian Pan; Bei-sha Tang; Desheng Liang; Zhi-gao Long; He-ping Dai; Kun Xia; Jia-hui Xia
Rapid genetic diagnosis and prenatal diagnosis of spinal muscular atrophy by denaturing high-performance liquid chromatography.
Chinese medical journal 2006;119(14):1222-5.
2006: Chufeng He; Yong Feng; Kun Xia; Lingyun Mei; Dinghua He
[The prenatal diagnosis and early intervention of nonsyndromic hearing loss of connexin26 gene].
Lin chuang er bi yan hou ke za zhi = Journal of clinical otorhinolaryngology 2006;20(13):579-81.
2006: Fengxia Yao; Ruifang Zhang; Zanhua Zhu; Kun Xia; Chunyu Liu
MutScreener: primer design tool for PCR-direct sequencing.
Nucleic acids research 2006;34(Web Server issue):W660-4.
2006: Ji-feng Guo; Bei-sha Tang; Jing Li; Yu-hu Zhang; xuewei zhang; Tao Chen; Kun Xia; Xin-xiang Yan; Li Cao; Fang Cai; Qian Pan; Lu Shen; Hong Jiang
[Exon rearrangement analysis of parkin gene in patients with isolated early-onset parkinsonism using semi-quantitative PCR].
Zhonghua yi xue za zhi 2006;86(21):1447-9.
2006: Beisha Tang; Hui Xiong; Ping Sun; Yuhu Zhang; Danling Wang; Zhengmao Hu; Zanhua Zhu; Hong Ma; Qian Pan; Jia-hui Xia; Kun Xia; Zhuohua Zhang
Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.
Human molecular genetics 2006;15(11):1816-25.
2006: Ru-xu Zhang; Bei-sha Tang; Xiao-hong Zi; Wei Luo; Kun Xia; Qian Pan; Zheng-mao Hu; Guo-hua Zhao; Ke Guo
[Cloning to rule out 10 candidate genes located in chromosome 12q24 for Charcot-Marie-Tooth disease type 2L].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2006;23(2):189-91.
2006: Zhi-guo Xie; Zheng-mao Hu; Qian Pan; Rui-fang Zhang; Desheng Liang; Ling-qian Wu; Zhi-gao Long; He-ping Dai; Kun Xia; Jia-hui Xia
[A mutation 1633-26(C-->A) in EXT1 gene causes multiple exostoses].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2006;23(2):147-50.
2006: Jia-hui Xia; Kun Xia; Qian Pan; Zhi-gao Long; He-ping Dai; Ling-qian Wu; Desheng Liang; Fang Cai
Mapping and identification of disease responsible genes based on genetic resource reservation and bioinformatics approach.
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2006;38(1):21-4.
2006: Hong Jiang; Beisha Tang; Kun Xia; Zhengmao Hu; Lu Shen; Jianguang Tang; Guohua Zhao; Yuhu Zhang; Fang Cai; Qian Pan; Zhigao Long; Guo Wang; Heping Dai
Mutation analysis of the ATM gene in two Chinese patients with ataxia telangiectasia.
Journal of the neurological sciences 2006;241(1-2):1-6.
2006: Mei Yang; Fang Cai; Rui-shan Wang; Qian Pan; Zhi-gao Long; Xiao-yun Deng; Kun Xia; Jia-hui Xia; Zhuohua Zhang
[Identification and clone of human Alzheimer's disease related gene nicastrin promoter].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2006;31(1):9-13.
2006: Zhi-gang Xue; Shai-hong Zhu; Qian Pan; Desheng Liang; Yu-mei Li; Xiong-hao Liu; Kun Xia; Jia-hui Xia
[Biotoxicology and biodynamics of silica nanoparticle].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2006;31(1):6-8.
2006: Ji-feng Guo; Bei-sha Tang; Yu-hu Zhang; Hong-jian Liu; Xin-xiang Yan; Tao Chen; Lu Shen; Hong Jiang; Kun Xia; Fang Cai; Qian Pan
[Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2006;23(1):70-3.
2006: Ruishan Wang; Yun-Wu Zhang; Ping Sun; Runzhong Liu; Xian Zhang; Xue Zhang; Kun Xia; Jiahui Xia; Huaxi Xu; Zhuohua Zhang
Transcriptional regulation of PEN-2, a key component of the gamma-secretase complex, by CREB.
Molecular and cellular biology 2006;26(4):1347-54.
2006: Desheng Liang; Lingqian Wu; Qian Pan; Naoki Harada; Zhigao Long; Kun Xia; Koh-ichiro Yoshiura; Heping Dai; Norio Niikawa; Fang Cai; Jiahui Xia
A father and son with mental retardation, a characteristic face, inv(12), and insertion trisomy 12p12.3-p11.2.
American journal of medical genetics. Part A 2006;140(3):238-44.
2005: Zhi-gang Xue; Yu-mei Li; Zhong-yuan Yao; Zhi-gao Long; He-ping Dai; Ling-qian Wu; Kun Xia; Jia-hui Xia
[Confirmation of the extra small chromosome in abnormality karyotype by PCR and FISH].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2005;30(6):657-9.
2005: Jian-guang Tang; Bei-sha Tang; Lu Shen; Hong Jiang; Zhi-ping Hu; Li Cao; Kun Xia; Fang Cai
[Construction of the eukaryotic expression vector of MJD1 and its expression in SH-SY5Y cells].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2005;30(6):640-4.
2005: Ji-feng Guo; Bei-sha Tang; Yu-hu Zhang; Kun Xia; Fang Cai; Qian Pan; Lu Shen; Hong Jiang; Guo-hua Zhao; Xin-xiang Yan; Li Cao
[Mutation analysis of DJ1 gene in patients with autosomal recessive early-onset Parkinsonism].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005;22(6):641-3.
2005: Wei Luo; Ye-Lei Tang; Bei-sha Tang; Mei-ping Ding; Guo-hua Zhao; Bao-Rong Zhang; Kun Xia; Jian-guang Tang; Fu-feng Zhang; Ru-xu Zhang; Qi-dong Yang
[Clinical, pathological and genetic studies in a Chinese Charcot-Marie-Tooth disease type 2 family].
Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2005;34(6):529-33.
2005: Xing-hua Xi; Duo Zheng; Kun Xia; Qian Pan; Lu-yun Lei; Zheng Liu; Chao-zhen Tang; Jia-hui Xia; De-yong Jiang; Han-xiang Deng
[Splicing site mutation of D19S418 in PRPF-31 gene and its phenotypic characters with autosomal dominant retinitis pigmentosa].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2005;41(11):1020-6.
2005: Xia Sun; Xin-Zhen Yin; Ling-qian Wu; Xiao-Liu Shi; Zheng-mao Hu; Xiao-ping Liu; Qian Pan; He-ping Dai; Kun Xia; Jia-hui Xia
[Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2005;30(5):521-4.
2005: Wei Xu; Bao-Rong Zhang; Zheng-mao Hu; Qian Pan; Xiao-ping Liu; Desheng Liang; Ling-qian Wu; Fang Cai; Zhi-gao Long; Kun Xia; Jia-hui Xia
[Genetic linkage analysis in localizing a gene of autosomal dominant familial dilated cardiomyopathy with conduction defect].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2005;30(5):510-4.
2005: Fu-feng Zhang; Bei-sha Tang; Yan Shen; Guo-hua Zhao; Kun Xia; Yi-qiang Zhao; Piu Chan; Cheng Zhang; Qian Pan; Fang Cai; Xiao-min Liu; Wei Luo; Ru-xu Zhang; Peng Guo
[Detection of duplications or deletions of the PMP22 gene using real-time quantitative PCR].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005;22(5):537-40.
2005: Xiao-min Liu; Bei-sha Tang; Guo-hua Zhao; Kun Xia; Fu-feng Zhang; Qian Pan; Fang Cai; Zheng-mao Hu; Cheng Zhang; Piu Chan; Lu Shen; Ru-xu Zhang; Hong Jiang
[Mutation analysis of small heat shock protein 27 gene in Chinese patients with Charcot-Marie-Tooth disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005;22(5):510-3.
2005: Yu Liang; Desheng Liang; Zhi-gang Xue; Zhi-gao Long; Ling-qian Wu; Qian Pan; Yi-qiao Hu; He-ping Dai; Kun Xia; Jia-hui Xia
A minidystrophin-EGFP fusion gene expressed in Cos-7 cells mediated by human source vector.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005;22(5):493-6.
2005: Hong Jiang; Beisha Tang; Kun Xia; Yongxin Zhou; Bo Xu; Guohua Zhao; Haiyan Li; Lu Shen; Qian Pan; Fang Cai
Spinocerebellar ataxia type 6 in Mainland China: molecular and clinical features in four families.
Journal of the neurological sciences 2005;236(1-2):25-9.
2005: Hao Hu; Ling-qian Wu; Desheng Liang; Yong Feng; Fang Cai; Kun Xia; Qian Pan; Zhi-gao Long; He-ping Dai; Jia-hui Xia
[Prenatal diagnosis of prelingual deafness by determination of SLC26A4 gene mutation].
Zhonghua fu chan ke za zhi 2005;40(9):591-4.
2005: Beisha Tang; Xiaomin Liu; Guohua Zhao; Wei Luo; Kun Xia; Qian Pan; Fang Cai; Zhengmao Hu; Cheng Zhang; Piu Chan; Fufeng Zhang; Lu Shen; Ruxu Zhang; Hong Jiang
Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
Archives of neurology 2005;62(8):1201-7.
2005: Hao Hu; Desheng Liang; Ling-qian Wu; Yong Feng; Fang Cai; Kun Xia; Qian Pan; Zhi-gao Long; He-ping Dai; Jia-hui Xia
Molecular analysis of SLC26A4 gene in a Chinese deafness family.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005;22(4):376-9.
2005: Fu-feng Zhang; Bei-sha Tang; Guo-hua Zhao; Piu Chan; Cheng Zhang; Wei Luo; Xiao-min Liu; Kun Xia; Fang Cai; Zheng-mao Hu; Xin-xiang Yan; Ru-xu Zhang; Peng Guo
Mutation analysis of small heat-shock protein 22 gene in Chinese patients with Charcot-Marie-Tooth disease.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005;22(4):361-3.
2005: LIQIANG HE; Yu Liu; Fang Cai; Zhi-ping Tan; Qian Pan; Desheng Liang; Zhi-gao Long; Ling-qian Wu; Liang-Qun Huang; He-ping Dai; Kun Xia; Jia-hui Xia; Zhuohua Zhang
Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells.
Acta biochimica et biophysica Sinica 2005;37(8):547-54.
2005: Fu-feng Zhang; Bei-sha Tang; Guo-hua Zhao; Wei Luo; Kun Xia; Xiao-min Liu; Jian-feng Xiao; Ru-xu Zhang; Piu Chan; Cheng Hang; Qian Pan; Fang Cai; Peng Guo
[The characteristics of gene mutations in Chinese patients with Charcot-Marie-Tooth disease].
Zhonghua yi xue za zhi 2005;85(26):1809-12.
2005: Ruifang Zhang; Zanhua Zhu; Hongming Zhu; Tu Nguyen; Fengxia Yao; Kun Xia; Desheng Liang; Chunyu Liu
SNP Cutter: a comprehensive tool for SNP PCR-RFLP assay design.
Nucleic acids research 2005;33(Web Server issue):W489-92.
2005: Yu-hu Zhang; Bei-sha Tang; Ai-ling Zhao; Kun Xia; Zhi-gao Long; Ji-feng Guo; Shawn K Westaway; Susan J Hayflick
Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
Movement disorders : official journal of the Movement Disorder Society 2005;20(7):819-21.
2005: Yu-hu Zhang; Bei-sha Tang; Ji-feng Guo; Kun Xia; Bo Xu; Fang Cai; Han-xiang Deng; Xin-xiang Yan; Tao Chen; Li Cao; Qian Pan; Zhi-gao Long
[Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type 6].
Zhonghua yi xue za zhi 2005;85(22):1538-41.
2005: Zheng Hu; Fang Cai; Li-Juan Cheng; Kun Xia; Jia-hui Xia; Zhuohua Zhang
[Stable suppression of beta-catenin expression in prostate cancer cell line by retrovirus mediated RNAi].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2005;30(3):253-7.
2005: LIQIANG HE; Fang Cai; Yu Liu; Mu Jun Liu; Zhi-ping Tan; Qian Pan; Fang Alice; Desheng Liang; Ling-qian Wu; Zhi-gao Long; He-ping Dai; Kun Xia; Jia-hui Xia; Zhuohua Zhang
Cx31 is assembled and trafficked to cell surface by ER-Golgi pathway and degraded by proteasomal or lysosomal pathways.
Cell research 2005;15(6):455-64.
2005: Lu Shen; Jian-guang Tang; Bei-sha Tang; Hong Jiang; Guo-hua Zhao; Kun Xia; Yu-hu Zhang; Fang Cai; Li-ming Tan; Qian Pan
Research on screening and identification of proteins interacting with ataxin-3.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005;22(3):242-7.
2005: Q F Lyu; Ling-qian Wu; Y P Li; Q Pan; D E Liu; Kun Xia; Desheng Liang; Fang Cai; Zhi-gao Long; He-ping Dai; Jia-hui Xia
An improved mechanical technique for assisted hatching.
Human reproduction (Oxford, England) 2005;20(6):1619-23.
2005: Hong Jiang; Bei-sha Tang; Bo Xu; Guo-hua Zhao; Lu Shen; Jian-guang Tang; Qing-hua Li; Kun Xia
Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6.
Chinese medical journal 2005;118(10):837-43.
2005: Hong Jiang; Bei-sha Tang; Zheng-mao Hu; Kun Xia; Bo Xu; Jian-guang Tang
[Research on clinical characteristics and ATM gene mutations in Chinese patients with ataxia-telangiectasia].
Zhonghua yi xue za zhi 2005;85(16):1117-20.
2005: Xiao-yun Deng; Fang Cai; Kun Xia; Qian Pan; Zhi-gao Long; Ling-qian Wu; Desheng Liang; He-ping Dai; Zhuohua Zhang; Jia-hui Xia
Identification of the alternative promoters of the KChIP4 subfamily.
Acta biochimica et biophysica Sinica 2005;37(4):241-7.
2005: Yuhu Zhang; Beisha Tang; Jifeng Guo; Zhigao Long; Kun Xia; Qian Pan; Zhengmao Hu; Dingwen Wu; Jianguang Tang; Tao Chen; Xinxiang Yan
[Studies on PANK2 gene mutations in Chinese patients with Hallervorden-Spatz syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005;22(2):189-91.
2005: Hong Jiang; Beisha Tang; Zhengmao Hu; Kun Xia; Bo Xu; Jianguang Tang; Lu Shen
[ATM gene mutations in Chinese patients with ataxia telangiectasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005;22(2):121-4.
2005: Bin Fu; Fang-ping Chen; Kun Xia; Gan Fu; Wei Liu; Xi-lian Huang; Guang-Fen Xiao
[Effect of glycoprotein alpha II bA2334C mutation on the biosynthesis and transportation of alpha II bbeta3 complex].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2005;26(3):157-62.
2005: Ru-xu Zhang; Wei Luo; Xiao-hong Zi; Kun Xia; Fang Cai; Jian-feng Xiao; Guo-hua Zhao; Fu-feng Zhang; Lu Shen; Hong Jiang; Bei-sha Tang
Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease.
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2005;37(1):68-71.
2005: Yong Feng; Chufeng He; Kun Xia; Qi Li; Dinghua He
[Mutation analysis of gene CX31.1 in the hereditary hearing loss pedigrees].
Lin chuang er bi yan hou ke za zhi = Journal of clinical otorhinolaryngology 2005;19(4):178-9.
2005: Desheng Liang; Ling-qian Wu; Fang Cai; Kun Xia; Zhi-gao Long; Qian Pan; He-ping Dai; Jia-hui Xia
[Phenotype positioning on chromosomes in a patient with the syndrome of partial trisomy 7p21.2-->pter].
Yi chuan xue bao = Acta genetica Sinica 2005;32(2):124-9.
2005: Hong Jiang; Beisha Tang; Bo Xu; Guo-hua Zhao; Lu Shen; Jian-guang Tang; Qing-hua Li; Kun Xia
[Frequency analysis of autosomal dominant spinocerebellar ataxias in Han population in the Chinese mainland and clinical and molecular characterization of spinocerebellar ataxia type 6].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2005;22(1):1-4.
2005: Bei-sha Tang; Guo-hua Zhao; Wei Luo; Kun Xia; Fang Cai; Qian Pan; Ru-xu Zhang; Fu-feng Zhang; Xiao-min Liu; Piu Chan; Cheng Zhang; Lu Shen; Hong Jiang; Zhi-gao Long; He-ping Dai
Small heat-shock protein 22 mutated in autosomal dominant Charcot-Marie-Tooth disease type 2L.
Human genetics 2005;116(3):222-4.
2005: Ke Yao; Xiajing Tang; Xing-chao Shentu; Kaijun Wang; Huiying Rao; Kun Xia
Progressive polymorphic congenital cataract caused by a CRYBB2 mutation in a Chinese family.
Molecular vision 2005;11():758-63.
2005: Baorong Zhang; Kun Xia; Meiping Ding; Desheng Liang; Zhirong Liu; Qian Pan; Zhengmao Hu; Ling-qian Wu; Fang Cai; Jiahui Xia
Confirmation and refinement of a genetic locus of congenital motor nystagmus in Xq26.3-q27.1 in a Chinese family.
Human genetics 2005;116(1-2):128-31.
2004: Bao-Rong Zhang; Xin-Zhen Yin; Kun Xia; Mei-ping Ding; Zheng-mao Hu; Zheng Min; Zhi-rong Liu; Jia-hui Xia
[Mutation analysis of keratin 9 gene in a pedigree with epidermolytic palmoplantar keratoderma].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2004;21(6):570-3.
2004: Kun Xia; Desheng Liang; Aifa Tang; Yong Feng; Junyi Zhang; Qian Pan; Zhigao Long; Heping Dai; Fang Cai; Lingqian Wu; Suping Zhao; Zhuchu Chen; Jiahui Xia
A novel fusion suicide gene yeast CDglyTK plays a role in radio-gene therapy of nasopharyngeal carcinoma.
Cancer gene therapy 2004;11(12):790-6.
2004: Peng Hu; Ding-hua Xie; Zi-an Xiao; Wei-jing Wu; Sheng-lei Ge; Zheng-mao Hu; Kun Xia
[Mutation screening in selected exons of myosin 7a gene in prelingual non-syndromic hearing impairment patients].
Zhonghua er bi yan hou ke za zhi 2004;39(9):538-42.
2004: Zi-an Xiao; Ding-hua Xie; Liang-Qun Huang; Xiao-Liu Shi; Kun Xia; Shu Yang; Jia-hui Xia
[Interaction of connexin 26 with the C-terminal of neuroendocrine specific protein].
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2004;29(4):401-4, 418.
2004: Zhi-rong Liu; Bao-Rong Zhang; Mei-Ping Ding; Kun Xia; Zheng-mao Hu; Hao Deng; Jia-hui Xia
[Mapping of a pedigree with congenital nystagmus].
Yi chuan = Hereditas / Zhongguo yi chuan xue hui bian ji 2004;26(4):437-40.
2004: Hu Peng; Ding-hua Xie; Zi-an Xiao; Wei-jing Wu; Yong Chen; Kun Xia
[Subunit of voltage-dependent calcium channels in the murine spiral ganglion cells].
Zhonghua er bi yan hou ke za zhi 2004;39(7):385-8.
2004: Beisha Tang; Haiyan Li; Kun Xia; Hong Jiang; Qian Pan; Lu Shen; Zhigao Long; Guohua Zhao; Fang Cai
A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family.
Journal of the neurological sciences 2004;221(1-2):31-4.
2004: Jiahui Xia; Kun Xia; Yong Feng; Aifa Tang; Yaoyun Tang; Lingqian Wu; Desheng Liang; Fang Cai; Qian Pan; Zhigao Long; Heping Dai; Yunyi Zhang; Suping Zhao; Zhuchu Chen
The combination of suicide gene therapy and radiation enhances the killing of nasopharyngeal carcinoma xenographs.
Journal of radiation research 2004;45(2):281-9.
2004: Ru-xu Zhang; Bei-sha Tang; Xiao-hong Zi; Wei Luo; Kun Xia; Qian Pan; Zhi-gao Long; Zheng-mao Hu; Xiao-bo Li
[Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2004;21(3):207-10.
2004: Kun Xia; Duo Zheng; Qian Pan; Zheng Liu; Xinghua Xi; Zhengmao Hu; Hanxiang Deng; Xiaoping Liu; Deyong Jiang; Hao Deng; Jiahui Xia
A novel PRPF31 splice-site mutation in a Chinese family with autosomal dominant retinitis pigmentosa.
Molecular vision 2004;10():361-5.
2004: Ling-qian Wu; Yi-feng Yang; Duo Zheng; Hao Deng; Qian Pan; Tian-li Zhao; Fang Cai; Y Feng; Zhi-gao Long; He-ping Dai; Bei-sha Tang; Y J Yang; Han-xiang Deng; Kun Xia; Jia-hui Xia
Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1.
The British journal of dermatology 2004;150(5):999-1004.
2004: Bei-sha Tang; Wei Luo; Kun Xia; Jian-feng Xiao; Hong Jiang; Lu Shen; Jian-guang Tang; Guo-hua Zhao; Fang Cai; Qian Pan; He-ping Dai; Qi-dong Yang; Jia-hui Xia; Oleg V Evgrafov
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24.
Human genetics 2004;114(6):527-33.
2004: Zheng-mao Hu; Duo Zheng; Qian Pan; Yi-feng Yang; Tian-li Zhao; Xiao-ping Liu; Ling-qian Wu; Dong-gui Jiang; Kun Xia; Jia-hui Xia
[A mutation IVS2+1G>A in EXT2 gene causes hereditary multiple exostoses].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2004;21(2):97-100.
2004: Chen-hua Li; Hai-yan Fang; Xiao-yun Deng; Kun Xia; Duo Zheng; Jia-hui Xia
[Construction of middle fragment deletion mutant with improved gene splicing by overlap extension].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2004;21(1):52-5.
2004: Beisha Tang; Guohua Zhao; Kun Xia; Qian Pan; Wei Luo; Lu Shen; Zhigao Long; Heping Dai; Xiaohong Zi; Hong Jiang
Three novel mutations of the spastin gene in Chinese patients with hereditary spastic paraplegia.
Archives of neurology 2004;61(1):49-55.
2003: Zhi-gang Xue; Duo Zheng; Jian-Ming Ruan; Qian Pan; Di-cheng Zhao; Xiao-ping Liu; Yu-Xiang Chen; Jia-hui Xia; Kun Xia
[Silica nanoparticles modified as carriers for gene transfection].
Yi chuan xue bao = Acta genetica Sinica 2003;30(7):606-10.
2003: Guo-hua Zhao; Bei-sha Tang; Wei Luo; Kun Xia; Mao-you Zhuang; Fan-bin Kong; Xin-xiang Yan; Han-xiang Deng; Jian-feng Xiao; Jia-hui Xia
[Spastin gene mutation in Chinese patients with hereditary spastic paraplegia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2003;20(3):177-80.
2003: Yuxiang Chen; Zhigang Xue; Duo Zheng; Kun Xia; Yanzhong Zhao; Ting Liu; Zhigao Long; Jiahui Xia
Sodium chloride modified silica nanoparticles as a non-viral vector with a high efficiency of DNA transfer into cells.
Current gene therapy 2003;3(3):273-9.
2003: Zheng Liu; Hao Deng; Xing-hua Xi; Jia-hui Xia; Qian Pan; He-ping Dai; Yong-jia Yang; Han-xiang Deng; Kun Xia; Duo Zheng
[Exclusive gene mapping on retinitis pigmentosa with markers on chromosomes 3 in a Chinese kindred].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2003;39(4):206-8.
2003: Hua-li Zhang; Hao Deng; Rui-Fang Zhang; Kun Xia; Jia-hui Xia
[In silicon cloning of the human TECTB gene].
Yi chuan xue bao = Acta genetica Sinica 2003;30(4):317-20.
2002: Kun Xia; Hao Deng; Jia-hui Xia; Duo Zheng; H L Zhang; C Y Lu; C Q Li; Qian Pan; He-ping Dai; Yi-feng Yang; Zhi-gao Long; Han-xiang Deng
A novel locus (DSAP2) for disseminated superficial actinic porokeratosis maps to chromosome 15q25.1-26.1.
The British journal of dermatology 2002;147(4):650-4.
2002: Wei Luo; Beisha Tang; Guohua Zhao; Kun Xia; Yi Yang; Jianfeng Xiao; Xinxiang Yan; Jiahui Xia
[A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2002;19(5):367-9.
2002: Yong Feng; Chu feng He; Jianyun Xiao; Jiansheng Fang; Suping Zhao; Xiang'e Tian; Lingyun Mei; Kun Xia; Xixiang Tang
[An analysis of a large hereditary postlingually deaf families and detecting mutation of the deafness genes].
Lin chuang er bi yan hou ke za zhi = Journal of clinical otorhinolaryngology 2002;16(7):323-5.
2002: Mingxiang Zhang; Jian Wen; Kun Xia; Duo Zheng; Zhuohua Zhang; Jiahui Xia
[A simple and convenient method for construction of gene site-directed mutagenesis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2002;19(2):145-7.
2002: Chunye Lu; Huali Zhang; Hao Deng; Kun Xia; Qian Pan; Jiahui Xia
[Molecular cloning of the human CX 58 gene].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2002;19(2):95-9.
2002: Liang-Qun Huang; Xiao-Liu Shi; Zhi-ping Tan; Hai-Yan Fang; Duo Zheng; Jia-hui Xia; Kun Xia
[Translational frameshift may be occur in p11, an interaction protein of Cx31, in yeast].
Sheng wu hua xue yu sheng wu wu li xue bao Acta biochimica et biophysica Sinica 2002;34(2):219-24.
2002: Yanlin Ma; Baicheng Gong; Jiahui Xia; Hanxiang Deng; Qian Pan; Qi Li; Heping Dai; Shu Wen; Kun Xia
Han Chinese population data for ten STR loci in Changsha, China.
Journal of forensic sciences 2002;47(2):404-5.
2002: Jiahui Xia; Hanxiang Deng; Yong Feng; Huali Zhang; Qian Pan; Heping Dai; Zhigao Long; Beisha Tang; Hao Deng; Yong Chen; Ruifang Zhang; Duo Zheng; Yungui He; Kun Xia
A novel locus for autosomal dominant nonsyndromic hearing loss identified at 5q31.1-32 in a Chinese pedigree.
Journal of human genetics 2002;47(12):635-40.
2000: Jia-hui Xia; Yi-feng Yang; Hao Deng; Bei-sha Tang; D S Tang; Y G He; Kun Xia; S X Chen; Y X Li; Qian Pan; Zhi-gao Long; He-ping Dai; XD Liao; Jian-feng Xiao; Z R Liu; C Y Lu; KP Yu; Han-xiang Deng
Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1.
The Journal of investigative dermatology 2000;114(6):1071-4.
1999: Jiahui Xia; D Tang; Kun Xia; S Tan
The achievements of medical genetic research in China during the past 50 years.
Chinese medical journal 1999;112(10):956-8.
1998: Jia-hui Xia; Chunyu Liu; Bei-sha Tang; Qian Pan; L Huang; He-ping Dai; Bao-Rong Zhang; W Xie; Dong-xu Hu; Duo Zheng; Xiao-Liu Shi; D A Wang; Kun Xia; KP Yu; XD Liao; Y Feng; Yi-feng Yang; J Y Xiao; Ding-hua Xie; Jian-zheng Huang
Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment.
Nature genetics 1998;20(4):370-3.