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检索条件"任意字段=中华医学会第十五次全国医学遗传学学术会议暨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"
543 条 记 录,以下是531-540 订阅
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A genetic variant altering ZNF804A expression is associated with increased risk of Autism Spectrum Disorder in Han Chinese Populations
A genetic variant altering ZNF804A expression is associated ...
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中华医学会第十五次全国医学遗传学学术会议暨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
作者: Qin Yue Zhang Linna Gong Xiaohong Tao Wufan Wang Hongyan Obstetrics and Gynecology Hospital of Fudan University School of Life Sciences Fudan University Shanghai Jiao Tong University School of Medicine
Objective Autism spectrum disorder(ASD) is characterized with deficiencies in social interaction and repetitive behaviors(DSM-5). According to a report from the United States in 2012, the preva lence of ASD reached 1 ... 详细信息
来源: 评论
MiR-197 rescues the neurogenesis defects caused by autistic MECP2 mutation
MiR-197 rescues the neurogenesis defects caused by autistic ...
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中华医学会第十五次全国医学遗传学学术会议暨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
作者: Hongyan Wang Yumeng Wang Yufang Zheng Yasong Du Institute of Reproduction & Development Obstetrics & Gynecology Hospital Fudan University The State Key Laboratory of Genetic Engineering at School of Life Sciences Fudan University Shanghai Mental Health Center Shanghai Jiaotong University
Objective MECP2(Methyl-Cp G-binding protein 2) is a key protein for neurodevelopment with fun ctions in not only transcription regulation but also micro RNA processing. Mutations in MECP2 are associated with neurodeve... 详细信息
来源: 评论
In-silico screening and molecular analysis of disease associated mutations on Cul4B
In-silico screening and molecular analysis of disease associ...
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中华医学会第十五次全国医学遗传学学术会议暨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
作者: Dou Hao Yu Qian Feng Yingjie Gong Yaoqin Institute of Genetics Shandong University
Objective Nowadays, the amounts of available gene sequencing data are growing rapidly. Comp utational methods were developed to interpret sequence variants and address their structural imp act on encoded proteins. CUL... 详细信息
来源: 评论
Novel-compound heterozygous mutations in the TTI2 gene cause syndromic-intellectual disability in a Chinese family
Novel-compound heterozygous mutations in the TTI2 gene cause...
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中华医学会第十五次全国医学遗传学学术会议暨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
作者: Han Shirui Wang Rongrong Liu Hongyan Zhang Xue The Research Center for Medical Genomics Key Laboratory of Medical Cell Biology Chinese Ministry of Ed ucation College of Basic Medical Science China Medical University Department of Medical Genetics and National Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences School of Basic Medicine Peking Union Medical College People's Hospital of Zhengzhou University Henan Provincial People's Hospital
Objective Background Tel2-interacting proteins 2(TTI2)interact with Tel2-interacting proteins 1(TTI1) and telomere maintenance 2(TELO2) to form the Triple T complex, which acts as a co-ch aperone of phosphoinosi... 详细信息
来源: 评论
SLC44A4 mutation causes autosomal dominant hereditary postlingual non-syndromic mid-frequency hearing loss
SLC44A4 mutation causes autosomal dominant hereditary postli...
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中华医学会第十五次全国医学遗传学学术会议暨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
作者: Ma Zhaoxin Xia Wenjun Liu Fei Ma Jing Sun Shaoyang Zhang Jin Jiang Nan Wang Xu Hu Jiongjiong Ma Duan Department of Otorhinolaryngology Shanghai East Hospital Tongji University Institutes of Biomedical Science Fudan University Key Laboratory of Metabolism and Molecular Medicine Ministry of Education Department of Biochemistry and Molecular Biology Institute of Biomedical Sciences Collaborative Innovation Center of Genetics and Development School of Basic Medical Sciences Fudan University Children's Hospital Fudan University
Objective Hearing impairment is considered one of the most prevalent clinic disability worldwide. The variety of hearing impairment causative genes determines the diversity of pathogenic macha nism. Method In our stud... 详细信息
来源: 评论
Association study of MYP10 and MYP15 for high myopia in a Han Chinese population
Association study of MYP10 and MYP15 for high myopia in a Ha...
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中华医学会第十五次全国医学遗传学学术会议暨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
作者: Zhai Yaru Ye Zimeng Li Fang Jiang Lingxi Wu Haiyan Yang Zhenglin Shi Yi Sichuan Provincial Key Laboratory for Human Disease Gene Study Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital School of Medicine University of Electronic Science and Technology of China
Objective The previous genome-wide association study(GWAS) has revealed the association of MYP10 at 8 p23 and MYP15 at 10 q21.1 with high myopia in the French population. Our study was conducted to investigate the ass... 详细信息
来源: 评论
SLC33A1 ***113Arg(c.339T>G) mutation leads to neurod egeneration and accelerates injury-induced peripheral nerv e axonal regrowth in mice by modulating BMP signaling
SLC33A1 ***113Arg(c.339T>G) mutation leads to neurod egenera...
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中华医学会第十五次全国医学遗传学学术会议暨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
作者: Liu Pingting Jiang Baichun Ma Jian Lin Pengfei Shao Changshun Sun Wenjie Gong Yaoqin The Key Laboratory of Experimental Teratology Ministry of Education and Department of Genetics Shando ng University School of Medicine Laboratory of Neuromuscular Disorders and Department of Neurology Qilu Hospital Shandong University
Objective The mutation ***113 Arg(S113 R)(c.339 T>G)(MIM #603690.0001) in SLC33 A1(MI M #603690), an ER membrane acetyl-Co A transporter,has been previously identified in patients with hereditary spastic paraplegia... 详细信息
来源: 评论
先天性心脏病分子遗传学研究及筛查、诊疗方案的优化
先天性心脏病分子遗传学研究及筛查、诊疗方案的优化
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作者: 唐宁 黄际卫 曾定元 梁彪 严提珍 王麟 廖凤文 王远流 李伍高 罗世强 李哲涛 蒋健穗 李静文 莫敏聪 韦庆成 何建彪 柳州市妇幼保健院
项目来源:项目来源为桂科计字[2015]98号文件下达的广西科学研究与技术开发计划项目《先天性心脏病的分子遗传学研究及筛查、诊疗方案的优化》(合同编号:桂科攻1598011-8)。 课题来源与背景:先心病是最常见的出生缺陷和新生儿死亡... 详细信息
来源: 评论
Fast detection of Thanatophoric dysplasia type Ⅰ R248C mutation hot spots and rapid prenatal diagnosis of three TD type Ⅰ high-risk fetuses
Fast detection of Thanatophoric dysplasia type Ⅰ R248C muta...
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中华医学会第十五次全国医学遗传学学术会议暨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
作者: JIANG Yu PAN Jingxin GUO Dongwei AI Yang LI Rong JIANG Weiying FANG Qun GUO Yibin Zhongshan School of Medicine SUN Yat-sen University The Second Affiliated Hospital Fujian University of Medical Science Medical College Xiamen University The First Affiliated Hospital Sun Yat-sen University
Objective To build up the specifically rapid methods of RE and ARMS/RE for mutation hotspot "p.R248 C" in the FGFR3 gene of Thanatophoric dysplasia typeⅠ, then use the method to rapid pren atal diagnosis of... 详细信息
来源: 评论
The prenatal diagnosis of high risk fetus with severe short limb malformation and a preliminary study on the high incidence mutation and homozygous mutation mechanism of R248C of TD-I type
The prenatal diagnosis of high risk fetus with severe short ...
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中华医学会第十五次全国医学遗传学学术会议暨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
作者: GUO Yibin PAN Jingxin GUO Dongwei XIE Jie FANG Zishui AI Yang LI Rong JIANG Yu JIANG Weiying FANG Qun GUO Chunmiao Zhongshan School of Medicine Sun Yat-sen University The Second Affiliated Hospital Fujian University of Medical Science Medical College Xiamen University
Objective To reveal the real cause of onset and lay the foundation of preimplantation genetic diagnosis for the future, prenatal diagnosis were performed for high-risk fetuses who were diagnosed tentatively as severe ... 详细信息
来源: 评论