المؤلفون: Xinzhuang Yang, Dingding Zhang, Si Shen, Pidong Li, Mengjie Li, Jingwen Niu, Dongrui Ma, Dan Xu, Shuangjie Li, Xueyu Guo, Zhen Wang, Yanhuan Zhao, Haitao Ren, Chao Ling, Yang Wang, Yu Fan, Jianxiong Shen, Yicheng Zhu, Depeng Wang, Liying Cui, Lin Chen, Changhe Shi, Yi Dai

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: CGG repeat expansion, Long-read whole-genome sequencing, Neurodegenerative disease, Oculopharyngodistal myopathy, RILPL1, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/262e88f198f14be6a28e7e9170e30ca2

المؤلفون: Yu H. Sun, Hongxiao Cui, Chi Song, Jiafei Teng Shen, Xiaoyu Zhuo, Ruoqiao Huiyi Wang, Xiaohui Yu, Rudo Ndamba, Qian Mu, Hanwen Gu, Duolin Wang, Gayathri Guru Murthy, Pidong Li, Fan Liang, Lei Liu, Qing Tao, Ying Wang, Sara Orlowski, Qi Xu, Huaijun Zhou, Jarra Jagne, Omer Gokcumen, Nick Anthony, Xin Zhao, Xin Zhiguo Li

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-16 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/3aba9109b4254f2b955dfe3b8500460b

المؤلفون: Jiaxi Yu, Xing‐hua Luan, Meng Yu, Wei Zhang, He Lv, Li Cao, Lingchao Meng, Min Zhu, Binbin Zhou, Xiao‐rong Wu, Pidong Li, Qiang Gang, Jing Liu, Xin Shi, Wei Liang, Zhirong Jia, Sheng Yao, Yun Yuan, Jianwen Deng, Daojun Hong, Zhaoxia Wang

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1330-1342 (2021)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2328-9503

URL الوصول: https://doaj.org/article/3f786e19f13442c59c60f2139451b03a

المؤلفون: Xiaoying Fan, Dong Tang, Yuhan Liao, Pidong Li, Yu Zhang, Minxia Wang, Fan Liang, Xiao Wang, Yun Gao, Lu Wen, Depeng Wang, Yang Wang, Fuchou Tang

المصدر: PLoS Biology, Vol 18, Iss 12, p e3001017 (2020)

مصطلحات موضوعية: Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1544-9173; https://doaj.org/toc/1545-7885

URL الوصول: https://doaj.org/article/97b8c313471f47e68934a629eb173bca

المؤلفون: Chang Geng, Ciliu Zhang, Pidong Li, Yuanren Tong, Baosheng Zhu, Jing He, Yanhuan Zhao, Fengxia Yao, Li-Ying Cui, Fan Liang, Yang Wang, Yaru Wang, Hongshuai Jin, Dandan Lang, Shanlin Liu, Depeng Wang, Min S. Park, Lin Chen, Jing Peng, Yi Dai

المصدر: European Journal of Human Genetics. 31:504-511

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0ce786a518b2947d403f119412f75714
https://doi.org/10.1038/s41431-022-01190-y

المؤلفون: Li Cao, Jiaxi Yu, Xing-Hua Luan, Yun Yuan, Lingchao Meng, Zhaoxia Wang, Pidong Li, Daojun Hong, Xiao-Rong Wu, Jianwen Deng, Zhi-rong Jia, He Lv, Wei Zhang, Meng Yu, Wei Liang, Jing Liu, Min Zhu, Sheng Yao, Xin Shi, Qiang Gang, Binbin Zhou

المصدر: Annals of Clinical and Translational Neurology, Vol 8, Iss 6, Pp 1330-1342 (2021)
Annals of Clinical and Translational Neurology

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Pathology, medicine.medical_specialty, Candidate gene, Intranuclear Inclusion Bodies, Central nervous system, Nerve Tissue Proteins, Neurosciences. Biological psychiatry. Neuropsychiatry, 03 medical and health sciences, 0302 clinical medicine, Exome Sequencing, medicine, Humans, Myopathy, RC346-429, Pathological, Research Articles, business.industry, General Neuroscience, Middle Aged, Spinal cord, Phenotype, Pedigree, Distal Myopathies, 030104 developmental biology, medicine.anatomical_structure, Intercellular Signaling Peptides and Proteins, Female, Neurology (clinical), Neurology. Diseases of the nervous system, medicine.symptom, Hereditary Sensory and Motor Neuropathy, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, business, 030217 neurology & neurosurgery, Research Article, RC321-571

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24fae32469ae38228594f5500b56d665
https://doaj.org/article/3f786e19f13442c59c60f2139451b03a

المؤلفون: Wei Zhang, Zhaoxia Wang, Yun Yuan, Xufang Xie, Jing Liu, Jianhui Fu, Jiaxi Yu, Xiaochen Han, Binbin Zhou, Yilei Zheng, Xiaobin Li, Min Zhu, Qingqing Wang, Sheng Yao, Jianwen Deng, Xueyu Guo, Pidong Li, Daojun Hong

المصدر: Journal of Medical Genetics. 59:462-469

مصطلحات موضوعية: 0301 basic medicine, Intranuclear Inclusion Bodies, Genetic Carrier Screening, RNA-binding protein, 030105 genetics & heredity, Biology, Asymptomatic, 03 medical and health sciences, chemistry.chemical_compound, Genetics, medicine, Humans, RNA, Messenger, Genetics (clinical), RNA, Neurodegenerative Diseases, 030104 developmental biology, chemistry, CpG site, medicine.symptom, Trinucleotide Repeat Expansion, Trinucleotide repeat expansion, Asymptomatic carrier, DNA

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6bbfbb850b9000179a8fce1bde7c6afe
https://doi.org/10.1136/jmedgenet-2020-107649

المؤلفون: Yiming Zheng, Jiaxi Yu, Min Zhu, Meng Yu, Yinzhe Liu, Jing Liu, He Lv, Juan Zhao, Yawen Zhao, Yang Wang, Zhiying Xie, Qingqing Wang, Xing-Hua Luan, Yun Yuan, Li Cao, Jianwen Deng, Xueyu Guo, Pidong Li, Zhaoxia Wang, Daojun Hong, Jingli Shan, Binbin Zhou, Wei Zhang, Lingchao Meng, Chuanzhu Yan, Qiang Gang

المصدر: Brain

مصطلحات موضوعية: 0301 basic medicine, RNA gain-of-function mechanism, toxic protein gain-of-function mechanism, Biology, Immunofluorescence, Pathogenesis, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, medicine, MBNL1, Myopathy, medicine.diagnostic_test, AcademicSubjects/SCI01870, Original Articles, Methylation, oculopharyngodistal myopathy, Phenotype, Molecular biology, 030104 developmental biology, chemistry, GGC repeat expansion, AcademicSubjects/MED00310, NOTCH2NLC, Neurology (clinical), medicine.symptom, Trinucleotide repeat expansion, Asymptomatic carrier, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e08804b7c6078c1f50d95bc9e4247133
https://doi.org/10.1093/brain/awab077

المؤلفون: Pidong Li, Xiaowei Liu, Ming Gao, Lijuan Wang, Yang Zou, Yuan Gao, Peiwen Xu, Hongqiang Xie, Yang Wang, Zi-Jiang Chen, Jie Li, Sexin Huang

المصدر: Journal of Genetics and Genomics. 47:718-721

مصطلحات موضوعية: Adult, medicine.diagnostic_test, Chromosomal translocation, Embryo, Computational biology, Biology, Embryo Transfer, Translocation, Genetic, Nanopores, Pregnancy, Genetics, medicine, Humans, Female, Genetic Testing, Nanopore sequencing, Molecular Biology, Preimplantation Diagnosis, Selection (genetic algorithm), Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfaee584104f85c0daa27507458ae02a
https://doi.org/10.1016/j.jgg.2020.05.001

المؤلفون: Shigehisa Ura, Pidong Li, Xueyu Guo, Jianwen Deng, Juan Zhao, Daojun Hong, Chang Zhou, Tatsuro Sato, Xing-Hua Luan, Yun Yuan, Zhaoxia Wang, Lingchao Meng, Yiming Zheng, Yu Liang, Fan Liang, Yanan Su, Zhiying Xie, Jiaxi Yu, Li Cao, Chuanzhu Yan, Aritoshi Iida, Tomohiro Hayashi, Qingqing Wang, He Lv, Jing Liu, Min Zhu, Qiang Gang, Masashi Ogasawara, Meiko Hashimoto Maeda, Meng Yu, Ichizo Nishino, Yawen Zhao, Wei Zhang, Yasushi Oya

المصدر: Am J Hum Genet

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Untranslated region, Adolescent, Biology, Muscular Dystrophies, Article, law.invention, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Asian People, Genetic linkage, law, Genetics, Humans, RNA-Seq, Muscle, Skeletal, Gene, Genetics (clinical), Polymerase chain reaction, Adaptor Proteins, Signal Transducing, Methylation, DNA Methylation, Amplicon, Pedigree, 030104 developmental biology, Female, Lod Score, Tumor Suppressor Protein p53, Trinucleotide Repeat Expansion, Vascular smooth muscle contraction, Trinucleotide repeat expansion, Chromosomes, Human, Pair 19, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae3c7e8d0683d594ed2238241e539049
https://doi.org/10.1016/j.ajhg.2020.04.011

المؤلفون: Xinzhuang Yang, Yang Wang, Yi-Cheng Zhu, Chao Ling, Haitao Ren, Liying Cui, Ding-Ding Zhang, Jianxiong Shen, Jing-Wen Niu, Pidong Li, Dan Xu, Yanhuan Zhao, Xueyu Guo, Zhen Wang, Lin Chen, Yi Dai, Depeng Wang

مصطلحات موضوعية: Weakness, Five prime untranslated region, Ptosis, Cgg repeat, business.industry, medicine, Etiology, Methylation, medicine.symptom, Bioinformatics, Trinucleotide repeat expansion, business, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a6c0e48a1d026e33fb8492d20e270ea9
https://doi.org/10.1101/2021.09.18.21263669

المؤلفون: Fan Yang, Depeng Wang, Liying Cui, Yu Huang, Pidong Li, Shangzhi Huang, Zhi-Qiang Wang, Kai Wang, Jiapeng Zhou, Li Fang, Fan Liang, Yi Dai

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, facioscapulohumeral muscular dystrophy, Computational biology, Biology, macrosatellite, Young Adult, Segmental Duplications, Genomic, Tandem repeat, Methods, Genetics, medicine, Humans, Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Allele, Alleles, Genetics (clinical), Segmental duplication, Southern blot, FSHD, D4Z4, Haplotype, DNA, Middle Aged, Telomere, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Single Molecule Imaging, Pedigree, Restriction enzyme, Haplotypes, Tandem Repeat Sequences, single-molecule optical mapping, Female, Chromosomes, Human, Pair 4

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f0164ec2609c29ef569811b520343fa
https://doi.org/10.1136/jmedgenet-2019-106078

المؤلفون: Wei Sun, Pu Fang, Jun Zhang, Zhaoxia Wang, Sheng Yao, Muliang Gu, Yun Yuan, Xue-Fan Yu, Min Zhu, Jing Bai, Yanan Su, Yining Huang, Jianwen Deng, Jiaxi Yu, Fan Li, Jian Huang, Pidong Li, Daojun Hong, Yu Miao

المصدر: Journal of Medical Genetics. 56:758-764

مصطلحات موضوعية: 0301 basic medicine, Untranslated region, Pathology, medicine.medical_specialty, Five prime untranslated region, business.industry, Disease, Pathogenesis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Genetic variation, Genetics, Medicine, business, Gene, Pathological, 030217 neurology & neurosurgery, Genetics (clinical), Immunostaining

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::f50b7a26cf4de6588a3dab16e1322119
https://doi.org/10.1136/jmedgenet-2019-106268

المؤلفون: Lihua Wu, Guoliang Yu, Pidong Li, Hao Wu, Shasha Huang, Siwen Zhang, Pu Dai, Bo Gao, Yongyi Yuan, Yong Gao, Yi Jiang

المصدر: Bioscience Reports

مصطلحات موضوعية: Male, 0301 basic medicine, Hearing Loss, Sensorineural, genome rearrangements, DNA Mutational Analysis, Hearing Loss, Conductive, Biophysics, 030105 genetics & heredity, Biology, Biochemistry, 03 medical and health sciences, Exon, symbols.namesake, Hearing, Predictive Value of Tests, Humans, Genetic Predisposition to Disease, Child, Indel, DNA, Chromosomes & Chromosomal Structure, Molecular Biology, Research Articles, X chromosome, Genetics, Sanger sequencing, X-linked deafness, Gene Expression & Regulation, Point mutation, High-Throughput Nucleotide Sequencing, Infant, Reproducibility of Results, Genetic Diseases, X-Linked, IP-III, Genomics, Cell Biology, structural variations, Single Molecule Imaging, POU3F4, Fixation (population genetics), Phenotype, 030104 developmental biology, single-molecule sequencing, Child, Preschool, Mutation, POU Domain Factors, symbols, Chromatid, Homologous recombination, Biotechnology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be0b6a2230df953b09f62b9ff6fb505a
https://doi.org/10.1042/bsr20203740

المؤلفون: Jianwen Deng, Binbin Zhou, Jiaxi Yu, Xiaochen Han, Jianhui Fu, Xiaobin Li, Xufang Xie, Min Zhu, Yilei Zheng, Xueyu Guo, Pidong Li, Qingqing Wang, Jing Liu, Wei Zhang, Yun Yuan, Sheng Yao, Zhaoxia Wang, Daojun Hong

المصدر: Journal of Medical Genetics; May2022, Vol. 59 Issue 5, p462-469, 8p

المؤلفون: Jianwen, Deng, Muliang, Gu, Yu, Miao, Sheng, Yao, Min, Zhu, Pu, Fang, Xuefan, Yu, Pidong, Li, Yanan, Su, Jian, Huang, Jun, Zhang, Jiaxi, Yu, Fan, Li, Jing, Bai, Wei, Sun, Yining, Huang, Yun, Yuan, Daojun, Hong, Zhaoxia, Wang

المصدر: Journal of medical genetics. 56(11)

مصطلحات موضوعية: Adult, Cell Nucleus, Male, Adolescent, Biopsy, Intranuclear Inclusion Bodies, Brain, Genetic Variation, Epithelial Cells, Neurodegenerative Diseases, Fibroblasts, Middle Aged, Pedigree, Asian People, Humans, Female, Receptor, Notch2, 5' Untranslated Regions, Aged, Microsatellite Repeats, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e999b2f56118c7cc191e2ce8fb7317fd
https://pubmed.ncbi.nlm.nih.gov/31413119

المؤلفون: Siwen Zhang, Pidong Li, Hao Wu, Lihua Wu, Yongyi Yuan, Jianjun Zha, Bo Gao, Yi Jiang, Shasha Huang, Yu Liang, Pu Dai

المصدر: SSRN Electronic Journal.

مصطلحات موضوعية: Sanger sequencing, symbols.namesake, Point mutation, Breakpoint, symbols, Retrotransposon, Nanopore sequencing, Computational biology, Biology, Indel, Gene, Blood sampling

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::545414e126d83d74aee04310ae1a79b9
https://doi.org/10.2139/ssrn.3464402

المؤلفون: Hongshuai Jin, Yuxia Yang, Xiangdong Kong, Yongjie Lu, Fan Liang, Pidong Li, Yuting Zheng, Xuechao Zhao, Lingrong Kong, Hui Xu, Guoliang Yu

المصدر: Prenatal Diagnosis

مصطلحات موضوعية: Proband, Adult, Male, Pathology, medicine.medical_specialty, Genetic Linkage, Genetic counseling, Sequence Homology, Prenatal diagnosis, Genetic linkage, Pregnancy, Prenatal Diagnosis, medicine, Facioscapulohumeral muscular dystrophy, Humans, Genetic Testing, Muscular dystrophy, Genetics (clinical), Southern blot, Homeodomain Proteins, Fetus, business.industry, Obstetrics and Gynecology, Chromosome Mapping, DNA, Original Articles, medicine.disease, Amniotic Fluid, Muscular Dystrophy, Facioscapulohumeral, Pedigree, Female, Original Article, Chromosomes, Human, Pair 4, business, Microsatellite Repeats

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d736c87091451426728b774b6bc7e284
https://pubmed.ncbi.nlm.nih.gov/31711258

المؤلفون: Depeng Wang, Pidong Li, Yu Huang, Yi Dai, Fan Yang, Fan Liang, Liying Cui, Jiapeng Zhou, Shangzhi Huang, Kai Wang, Li Fang, Zhi-Qiang Wang

مصطلحات موضوعية: musculoskeletal diseases, Restriction enzyme, Tandem repeat, Haplotype, medicine, Facioscapulohumeral muscular dystrophy, Computational biology, Allele, Muscular dystrophy, Biology, medicine.disease, Southern blot, Segmental duplication

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01b0f5081be56a3d7001b411eb1d5300

المؤلفون: Feilong Zhang, Pidong Li, Jianxin Chen, Hongcai Shang, Kuo Gao, Chao Zhang, Xue Xu

المصدر: Pharmacological Research. 103:105-113

مصطلحات موضوعية: 0301 basic medicine, Pharmacology, Drug, Principal Component Analysis, Training set, Traditional medicine, business.industry, Drug discovery, media_common.quotation_subject, Computational biology, Models, Theoretical, 03 medical and health sciences, 030104 developmental biology, Drug likeness, Drug Discovery, Humans, Medicine, business, Drugs, Chinese Herbal, media_common

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65ebe761ec1a6295ba10c037db1039d5
https://doi.org/10.1016/j.phrs.2015.11.015