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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491-500 订阅
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Long noncoding RNA H19 inhibits the proliferation of fetal liver cells and the Wnt signaling pathway
Long noncoding RNA H19 inhibits the proliferation of fetal l...
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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: wang fang wang shaobing wu xia liu yan yuan jihang huang jinfeng yang fu sun shuhan zheng jiasheng Department of Medical Genetics Second Military Medical University Department of Infectious Diseases The Second Affiliated Hospital of Harbin Medical University
Objective H19 has been reported to repress proliferation as a precursor of mi R-675;however, in the present study, we found that the transcript level of mi R-675 did not correlate with H19 express ion in mouse fetal l... 详细信息
来源: 评论
Genome-Wide Loci Linked to Non-Obstructive Azoospermi a Susceptibility May Be Independent of Reduced Sperm Pr oduction in Males with Normozoospermia
Genome-Wide Loci Linked to Non-Obstructive Azoospermi a Susc...
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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: Yang Yuan Tu Wenling Liu Yunqiang Shen Ying Yan Yuanlong Wang Xianding Yang Dong Li Lei Ma Yongyi Tao Dachang Zhang Sizhong Department of Medical Genetics State Key Laboratory of Biotherapy West China Hospital Sichuan University Department of Urology West China Hospital Sichuan University Chengdu Reproductive Medicine Institute Chengdu Women's and Children's Central Hospital Reproductive Medicine Center West China Second Hospital Sichuan University
Objective Non-obstructive azoospermia(NOA) is a complex, multifactorialdisease. Recent geno me-wide association studies(GWAS) have identified eight NOA susceptibility loci at genome-wid e significance of P< 5.0 X10... 详细信息
来源: 评论
A common variant rs2272804 in the 5'UTR of RIBC2 inhibits downstream gene expression by creating an upstream open reading frame
A common variant rs2272804 in the 5'UTR of RIBC2 inhibits do...
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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: Ye Yuhua Zhang Li Zhang Qianqian Yu Qiuxia Xu Xiangmin Department of Medical Genetics School of Basic Medical Sciences Southern Medical University
Objective To evaluate the impact of the 5‘UTR variant on the expression of RIBC2 and the varian ce of RIBC2 expression between different genotypes in Chinese population and identify the poten tial interacting genes o... 详细信息
来源: 评论
Prenatal diagnosis and Genetic counseling for Waardenburg syndrome in Chinese families
Prenatal diagnosis and Genetic counseling for Waardenburg sy...
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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: LI Wang QIN LITAO LI TAO LIU HONGJIAN MA LINGCAO WU DONG WANG HONGDAN GUO QIANN AN LIAO SHIXIU Institute of Medical Genetics Henan Provincial People's Hospital People's Hospital of Zhengzhou University Department of Otorhinolaryngology Henan Provincial People's Hospital People's Hospital of Zhengzhou University
Objective Waardenburg syndrome(WS) is an auditory-pigmentary disorder with varying combina tions of sensorineural hearing loss and abnormal pigmentation. This study aimed to investigate m olecular pathology and prov... 详细信息
来源: 评论
Association Study of 5-HT1A, 5-HT2A Polymorphisms with Schizophrenia and Major Depressive Disorder in the Han Chinese Population
Association Study of 5-HT1A, 5-HT2A Polymorphisms with Schiz...
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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: Zhang Rui 上海交通大学bio-x研究院
Objective Schizophrenia(SZ) and major depressive disorder(MDD) are two common severe me ntal disorders that have arisen to public awareness in recent years. Serotonin(5-HT) receptors ha ve been implicated in the patho... 详细信息
来源: 评论
Characterization of IQCB1/NPHP5-related retinal ciliopathy in a mouse model
Characterization of IQCB1/NPHP5-related retinal ciliopathy i...
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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 Li Baehr Wolfgang Clinical Laboratory Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital Department of Ophthalmology John A.Moran Eye Center University of Utah Health Science Center
Objective Null mutations in the human IQCB1/NPHP5(nephrocystin-5) gene that encodes NPHP5 are the most frequent cause of Senior-Loken syndrome, a ciliopathy that is characterized by Leber congenital amaurosis and neph... 详细信息
来源: 评论
Identification of a Novel Nonsense Mutation of the NTRK1 Gene in Two Siblings with Congenital Insensitivity to Pain with Anhidrosis
Identification of a Novel Nonsense Mutation of the NTRK1 Gen...
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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: Li Haibo Wang Ting Xiang Jingjing Wei Bin Zhang Qin Zhu QIn Liu Minjuan Sun Miao Li Hong Center for Reproduction and Genetics The affiliated Suzhou Hospital of Nanjing Medical University The First Affiliated Hospital of Soochow University
Objective Congenital insensitivity to pain with anhidrosis(CIPA), also known as hereditary senso ry and autonomic neuropathy type IV(HSAN IV), is a rare autosomal-recessive disorder characte rized by insensitivity... 详细信息
来源: 评论
A Melting Curve Analysis-Based Nested asymmetric PCR for detecting a2-globin gene mutations
A Melting Curve Analysis-Based Nested asymmetric PCR for det...
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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: wen xiaojun Zhang Qiang Xu Huiling zhang yijia Xiong Fu Xu Xiangmin Zhou Wanjun Department of Medical Genetics School of Basic Medical Sciences Southern Medical University
Objective α-thalassemia mainly caused by deletion or mutation of α2-globin gene. The types of mutations WS, QS, CS, CD30, CD31 are the most common α-globin gene mutations in China. C urrently, detection of mutation... 详细信息
来源: 评论
Functional implications of genetic variation in human mi RNA seed regions
Functional implications of genetic variation in human mi RNA...
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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: Zhang Jian Hou Yu Zhao Cunyou Department of Medical Genetics School of Basic Medical Sciences Southern Medical University
Objective Micro RNAs(mi RNAs) are a class of non-coding RNAs important in posttranscriptional repressors involved in the regulation of almost every biological process. Mi RNA-mediated regulati on depends on perfect ma... 详细信息
来源: 评论
Genetic variations at BCL11A, HBS1L-MYB and HBG2 associatied with fetal hemoglobin (HbF) in South China
Genetic variations at BCL11A, HBS1L-MYB and HBG2 associatied...
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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 Jing Xiong Likuan Ma Duan Key Laboratory of Metabolism and Molecular Medicine Ministry of Education Department of Biochemistry and Molecular Biology Collaborative Innovation Center of Genetics and Development Institutes of Biomedical Sciences School of Basic Medical Sciences Fudan University Center Laboratory Bao‘an Maternal and Children Healthcare Hospital Key Laboratory of Birth Defects Research
Objective β-thalassemia is one of the most common monogenic diseases with phenotype hetero geneity in many populations worldwide, such as in south China. Persistence of fetal hemoglobin(Hb F) is a major contributor t... 详细信息
来源: 评论