المؤلفون: Lianmei Zhang, Jingliang Cheng, Qi Zhou, Md. Asaduzzaman Khan, Jiewen Fu, Chengxia Duan, Suan Sun, Hongbin Lv, Junjiang Fu

المصدر: Frontiers in Genetics, Vol 11 (2020)

مصطلحات موضوعية: Usher syndrome type ID, CDH23 gene, missense mutation, targeted next-generation sequencing, genotype/phenotype correlation, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fgene.2020.00422/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/1c85306f121d4a2688777fafc575f40f

المؤلفون: Rui Chen, Jiewen Fu, Jingliang Cheng, Chengxia Duan, Lisha Yang, Kailai Nie, Yumei Li, Junjiang Fu, Shangyi Fu, Hongbin Lv, Longqian Liu, Junting Huang

المصدر: British Journal of Ophthalmology. 103:428-435

مصطلحات موضوعية: Ornithine, 0301 basic medicine, Proband, China, Ornithine aminotransferase, DNA Mutational Analysis, Pedigree chart, medicine.disease_cause, Retina, DNA sequencing, Consanguinity, 03 medical and health sciences, Cellular and Molecular Neuroscience, symbols.namesake, 0302 clinical medicine, Asian People, Tandem Mass Spectrometry, Electroretinography, medicine, Gyrate Atrophy, Humans, Fluorescein Angiography, DNA Primers, Genetics, Sanger sequencing, Mutation, Ornithine-Oxo-Acid Transaminase, Choroid, Reverse Transcriptase Polymerase Chain Reaction, business.industry, High-Throughput Nucleotide Sequencing, Sensory Systems, Pedigree, Ophthalmology, Phenotype, 030104 developmental biology, medicine.anatomical_structure, 030221 ophthalmology & optometry, symbols, Female, business, Tomography, Optical Coherence, Consanguineous Marriage

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05f40259a6ef762e6cc9b191861bc566
https://doi.org/10.1136/bjophthalmol-2018-312347

المؤلفون: Qi Zhou, Chengxia Duan, Jiewen Fu, Junjiang Fu, Md. Asaduzzaman Khan, Hongbin Lv, Jingliang Cheng, Jiangzhou Peng

المصدر: Molecular Medicine Reports

مصطلحات موضوعية: Adult, Male, Cancer Research, China, Heterozygote, usherin, genotype/phenotype correlation, truncated protein, Genetic counseling, Usher syndrome, media_common.quotation_subject, Nonsense, Usher syndrome type IIA, Biology, Compound heterozygosity, Biochemistry, symbols.namesake, targeted next-generation sequencing, Asian People, Protein Domains, Retinitis pigmentosa, otorhinolaryngologic diseases, Genetics, medicine, Humans, Molecular Biology, Gene, media_common, Sanger sequencing, Extracellular Matrix Proteins, Sequence Analysis, RNA, High-Throughput Nucleotide Sequencing, Articles, Sequence Analysis, DNA, medicine.disease, Phenotype, eye diseases, Pedigree, Up-Regulation, Oncology, Codon, Nonsense, symbols, Molecular Medicine, Female, Usher Syndromes

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bba61f99d683f19585e4bfe3a175d7a8
https://pubmed.ncbi.nlm.nih.gov/32945453

المؤلفون: Chengxia Duan, Rui Chen, Marzieh Dehghan Shasaltaneh, Shangyi Fu, Chunli Wei, Yumei Li, Hanchun Chen, Hongbin Lv, Junjiang Fu, Saber Imani, Lisha Yang, Dianzheng Zhang, Md. Asaduzzaman Khan, Hui Zou, Xianqin Zhang, Jingliang Cheng

المصدر: Oncotarget. 9:122-141

مصطلحات موضوعية: 0301 basic medicine, chemistry.chemical_classification, Genetics, Leucine zipper, Genetic heterogeneity, Dystrophy, Macular dystrophy, Biology, Amino acid, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Oncology, chemistry, Mutation (genetic algorithm), 030221 ophthalmology & optometry, Missense mutation, Leucine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0d3ea452421208bb972d70f405bda67b
https://doi.org/10.18632/oncotarget.22343

المؤلفون: Saber, Imani, Jingliang, Cheng, Marzieh Dehghan, Shasaltaneh, Chunli, Wei, Lisha, Yang, Shangyi, Fu, Hui, Zou, Md Asaduzzaman, Khan, Xianqin, Zhang, Hanchun, Chen, Dianzheng, Zhang, Chengxia, Duan, Hongbin, Lv, Yumei, Li, Rui, Chen, Junjiang, Fu

المصدر: Oncotarget

مصطلحات موضوعية: next generation sequencing, Research Paper: Chromosome, stargardt disease-4 (STGD4), PROM1, molecular modeling, missense mutation

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::7e5d162e4e1285068855603eba439097
https://pubmed.ncbi.nlm.nih.gov/29416601

المؤلفون: Junting Huang, Jiewen Fu, Shangyi Fu, Lisha Yang, Kailai Nie, Chengxia Duan, Jingliang Cheng, Yumei Li, Hongbin Lv, Rui Chen, Longqian Liu, Junjiang Fu

المصدر: British Journal of Ophthalmology; Mar2019, Vol. 103 Issue 3, p428-435, 8p, 1 Color Photograph, 2 Diagrams, 3 Charts, 2 Graphs

المؤلفون: Li Zhu, Rui Chen, Md. Asaduzzaman Khan, Junjiang Fu, Hui Wang, Mousumi Tania, Qi Zhou, Hongbin Lv, Jingliang Cheng, Weichan Yang, Chengxia Duan

المصدر: BioMed Research International
BioMed Research International, Vol 2015 (2015)

مصطلحات موضوعية: Male, China, Heterozygote, Article Subject, Calcium Channels, L-Type, Genetic counseling, Mutation, Missense, lcsh:Medicine, Biology, General Biochemistry, Genetics and Molecular Biology, symbols.namesake, Exon, Asian People, Retinitis pigmentosa, medicine, Missense mutation, Humans, Family, X chromosome, Sanger sequencing, Genetics, General Immunology and Microbiology, Genetic heterogeneity, lcsh:R, High-Throughput Nucleotide Sequencing, General Medicine, medicine.disease, Pedigree, Mutation (genetic algorithm), symbols, Female, Retinitis Pigmentosa, Research Article

وصف الملف: text/xhtml

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b418da37046adee610b91aa466b99892
https://pubmed.ncbi.nlm.nih.gov/26075273