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A novel insertion mutation in the ATP7A gene associated with delayed infantile onset of Menkes disea
[会议论文] 作者:Li Wugao,Yan Tizhen,Tang Ning,Li Zhetao,Huang Jiwei,Tan Jianqiang,Pan Lizhen,Cai Ren,
来源:中华医学会第十五次全国医学遗传学学术会议、中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会 年份:2016
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[会议论文] 作者:Yan Tizhen,Tang Ning,Luo Shiqiang,Huang Jiwei,Tan Jianqiang,Li Zhetao,Li Wugao,Wang Yuanliu,Cai Ren,
来源:中华医学会第十五次全国医学遗传学学术会议、中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会 年份:2016
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6p22.3 deletion: report of a boy with severe intellectual disability, autism, and electroencephalogr
[会议论文] 作者:Yan Tizhen,Zeng Ting,Wei Xiao-nin,Ding Yan-ling,Li Wugao,Li Zhetao,Weo Shuo-feng,Luo Shi-qiang,Cai Ren,
来源:第十四次全国医学遗传学学术会议 年份:2015
The interstitial deletions involving the 6p22-p24 chromosomal region are characterized by variable phenotype, according to the different size of the deleted regions and the small amount of patients re...
[会议论文] 作者:Huang Ji-wei,Tan Jian-qiang,Li Wugao,Li Zhe-tao,Yan Ti-zhen,Cai Ren,Pan Li-zhen,Luo Shi-qiang,Li Jing-wen,
来源:第十四次全国医学遗传学学术会议 年份:2015
Objective: To genetic analysis the CYP21A2 of seven patients with congenital adrenal hyperplasia and their parents.Methods: Seven patients with congenital adrenal hyperplasia from six families were co...
[会议论文] 作者:Yan Tizhen,Li Wugao,Tang Xiangrong,Li Zhetao,Wang Lin,Mo Lian,Huang Jiwei,Yang Yan,Cai Ren,Tang Ning,
来源:中华医学会第十五次全国医学遗传学学术会议、中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会 年份:2016
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Whole-exome sequencing identifies two novel MARVELD2 frame-shift mutations as a cause of autosomal r
[会议论文] 作者:Yan Tizhen,Tang Ning,Li Wugao,Li Zhetao,Luo Shiqiang,Li Jingwen,Cai Ren,Tang Xiangrong,Yang Yan,Wang,
来源:第十五次中国中西医结合耳鼻咽喉科专业委员会年会 年份:2016
Background The genetic heterogeneity of hearing loss makes genetic diagnosis expensive and time consuming using available methods....
Identification and Clinical Implications of Novel MY015A Mutations in a Non-consanguineous Chinese F
[会议论文] 作者:Yan Tizhen,Li Zhetao,Li Wugao,Tang Ning,Li Jingwen,Cai Ren,Tang Xiangrong,Yang Yan,Zheng Pei,Wang Lin,
来源:第十五次中国中西医结合耳鼻咽喉科专业委员会年会 年份:2016
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing l...
Identification and Clinical Implications of Novel MY015A Mutations in a Non-consanguineous Chinese F
[会议论文] 作者:Yan Tizhen,Tang Xiangrong,Li Zhetao,Li Wugao,Tang Ning,Wang Lin,Yang Yan,Li Jingwen,Zheng Pei,Cai Ren,
来源:第十五次中国中西医结合耳鼻咽喉科专业委员会年会 年份:2016
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestat...
Targeted genomic capture and massively parallel sequencing of a Chinese family with non-syndromic lo
[会议论文] 作者:Yan Tizhen,Tang Xiangrong,Zeng Dingyuan,Li Wugao,Li Zhetao,Luo Shiqiang,Yang Yan,Li Jingwen,Wang Lin,,
来源:第十五次中国中西医结合耳鼻咽喉科专业委员会年会 年份:2016
Background Wolfram syndrome gene 1 (WFS1) accounts for most of the familial non-syndromic low-frequency sensorineural hearing loss (LFSNHL) which is characterized by an unusual type of hearing loss in...
Whole-exome sequencing identifies two novel MARVELD2 frame-shift mutations as a cause of autosomal r
[会议论文] 作者:Yan Tizhen,Tang Ning,Li Wugao,Li Zhetao,Tang Xiangrong,Luo Shiqiang,Yang Yan,Li Jingwen,Wang Lin,Zeng,
来源:第十五次中国中西医结合耳鼻咽喉科专业委员会年会 年份:2016
Background The genetic heterogeneity of hearing loss makes genetic diagnosis expensive and time consuming using available methods....
[会议论文] 作者:Yan Tizhen,Tan Jian-qiang,Tang Ning,Cai Ren,Zeng Dingyuan,Luo Shi-qiang,Ya Jiaolian,Pan Lizhen,Li Wugao,
来源:第十四次全国医学遗传学学术会议 年份:2015
Background: The human X chromosome carries regions prone to genomic instability:the Xq27.3 unstable region, containing the (CGG) n repeat expansion in the FMR1 gene is associated with fragile X syndro...
Detection of rare alpha-thalassemia by using multiplex ligation-dependent probe amplification in sou
[会议论文] 作者:Cai Ren,Tang Ning,Huang Jiwei,Yan Tizhen,Luo Shiqiang,Li Wugao,Li Zhetao,Huang Jun,Li Jingwen,Zhong qingyan,
来源:中华医学会第十五次全国医学遗传学学术会议、中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会 年份:2016
...
[会议论文] 作者:Yan Tizhen,Tang Ning,Li Zhetao,Li Wugao,Tang Xiangrong,Wang Lin,Yang Yan,Huang Jiwei,Zheng Pei,Cai Ren,
来源:中华医学会第十五次全国医学遗传学学术会议、中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会 年份:2016
...
Whole-exome sequencing identifies two novel MARVELD2 frame-shift mutations as a cause of autosomal r
[会议论文] 作者:Yan Tizhen,Cai Ren,Tang Ning,Li Wugao,Li Zhetao,Tang Xiangrong,Luo Shiqiang,Yang Yan,Li Ji ngwen,Wang,
来源:中华医学会第十五次全国医学遗传学学术会议、中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会 年份:2016
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