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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521-530 订阅
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A novel loss-of function heterozygous c.8946del AG mutation in a Chinese woman with family breast cancer history
A novel loss-of function heterozygous c.8946del AG mutation ...
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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 Yang Jichun Jian Wenjing Wang Xianming Xiao Deyong 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 Rese archShenzhen Department of Breast Surgery The First Affiliated Hospital of Shenzhen UniversityThe Second People's Hospital Shenzhen Breast Cancer Center The Third Affiliated Hospital of Sun Yat-Sen UniversityGuangzhou
Objective Breast cancer is the most frequent female malignancy worldwide. About 5%-10% of ca ses have hereditary susceptibility with mutation in the two tumor suppressor genes, BRCA1 and BRCA2. Heterozygous germ line ... 详细信息
来源: 评论
Identification of A Novel Homozygous 940 bp Deletion in the CFTR Gene in A Chinese Cystic Fibrosis Patient
Identification of A Novel Homozygous 940 bp Deletion in the ...
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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 Keqiang Tian Xinlun Li Xue Xu Kaifeng Liu Yaping Zhang Xue McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences & Peking Union Medical College Department of Respiratory Medicine Peking Union Medical College Hospital
Objective Cystic fibrosis(CF) is the most frequent severe autosomal recessive disease among C aucasians, but relatively rare in Asian populations. A 16-year-old Chinese CF patient was enrolle d in this study to make... 详细信息
来源: 评论
17p13.3 microduplication in a Chinese family with split-hand/foot malformation
17p13.3 microduplication in a Chinese family with split-hand...
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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: Shen Yuqi Si Nuo Meng Xiaolu Liu Fang Zhang Ying Zhang Xue 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 Department of Obstetrics and Gynecology General Hospital of Tianjin Medical University
Objective Background Split-hand/foot malformation, affecting 1 in 8,500-25,000 newborns, is a developmental limb malformation characterized by median clefts of the hands and feet, syndactyly, and aplasia/hypoplasia of... 详细信息
来源: 评论
CYB5D2 is novel tumor suppressor for clear cell renal cell carcinoma(cc RCC)
CYB5D2 is novel tumor suppressor for clear cell renal cell c...
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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: wei fengxiang tang damu The Genetics Laboratory Maternity and Child Healthcare Hospital Longgang District
Objective Objectives-Clear cell renal cell carcinoma(cc RCC) is the most common and the most aggressive type of kidney cancer. The disease is thus the major cause of death associated with kidney cancer. Currently, tre... 详细信息
来源: 评论
Associations of 6p21.3 Region with Age-related Macular Degeneration and Polypoidal Choroidal Vasculopathy
Associations of 6p21.3 Region with Age-related Macular Degen...
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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 Zimeng Gong Bo Shuai Ping Yang Zhenglin Shi Yi Sichuan Provincial Key Laboratory for Human Disease Gene Study Sichuan Provincial People's Hospital
Objective Neovascular age-related macular degeneration(AMD) and polypoidal choroidal vasculopathy(PCV) are leading causes of visual loss and legal blindness among the elderly people in both Eastern and Western populat... 详细信息
来源: 评论
CFTR Mutations in Chinese Patients with Cystic Fibrosis
CFTR Mutations in Chinese Patients with Cystic Fibrosis
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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 Yaping Liu Keqiang Tian Xinlun Yang Jun Li Xue Zhu Yuanjue Xu Kai-feng Zhang Xue State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and Peking Union Medical College Department of Respiratory Medicine Peking Union Medical College Hospital
Objective Cystic fibrosis(CF), the most common life-threatening autosomal recessive disorder in Caucasians, is caused by mutations in the cystic fibrosis transmembrane conductance regulator(CFTR) gene. The most co... 详细信息
来源: 评论
Gross deletion of different domains of Fibrillin-1 result in variable phenotype of Marfan syndrome
Gross deletion of different domains of Fibrillin-1 result in...
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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 Jiacheng Lu Chaoxia Yang Kunqi Lei Xinxing Zhang Ying Zhang Sue McKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and Peking Union Medical College Department of Cardiology State Key Laboratory of Cardiovascular Disease Fuwai Hospital National Center for Cardiovascular Disease Chinese Academy of Medical Sciences and Peking Union Medical College
Objective Marfan syndrome is mostly caused by mutations in FBN1, a large gene spanning 00 kb of genomic DNA on chromosome 15 q21. So far, more than 1800 different FBN1 mutations have been identified, accounting for 60... 详细信息
来源: 评论
Genotype-based clinical manifestation and treatment of Chinese long QT syndrome patients with KCNQ1 mutations – R380S and W305L
Genotype-based clinical manifestation and treatment of Chine...
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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: Zhou Hui Lai Wei Zhu Wengen Xie Jinyan Liu Xin Shen Yang Yuan Ping Liu Ying Cao Qing He Wenfeng Hong Kui Department of Cardiovascular The Second Affiliated Hospital of Nanchang University The Key Laboratory of Molecular Medicine The Second Affiliated Hospital of Nanchang University
Objective Most long QT syndrome patients are associated with genetic mutations. We aimed to i nvestigate the clinical and biochemical characteristics and look for genotype-based preventive im plications in Chinese lon... 详细信息
来源: 评论
Association study of Ankylosing Spondylitis and interaction between ERAP1 and ERAP2 gene in Han Chinese population
Association study of Ankylosing Spondylitis and interaction ...
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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: Zheng Xuqi Li Qiuxia Wei Qiujing Wu Xinyu Gu Jieruo the Third Affiliated Hospital of Sun Yat-sen University
Objective Ankylosing Spondylitis(AS) is the prototype of spondyloarthritis and a highly heritable d isease. In all non-MHC susceptibility loci that have been reported, Endoplasmic Reticulum Amino peptidase 1(ERAP1... 详细信息
来源: 评论
CUL4B promote proliferation and migration of non-small-ce ll lung cells through epigenetically repression of miR-194
CUL4B promote proliferation and migration of non-small-ce ll...
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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: Mi Jun Zou Yongxin Lu Juanjuan Lin Xiaohua liu Xiaochen Zhao Hui Ye Xiang Hu Huili Jiang Baichun Han Bo Shao Changshun Gong Yaoqin The Key Laboratory of Experimental Teratology Ministry of Education and Department of Molecular Medicine and Genetics Shandong University School of Medicine Department of Pathology Shandong University School of Medicine
Objective CUL4 B, a scaffold protein that assembles CRL4 B ubiquitin ligase complexes, is overex pressed in many types of cancers and represses many tumor suppressors through epigenetic me chanisms. However, the roles... 详细信息
来源: 评论