Transmission characteristics of SMN from 227 spinal muscular atrophy core families in China
Cao, Yanyan, Qu, Yujin, Bai, Jinli, Cheng, Miaomiao, Jin, Yuwei, Wang, Hong, Song, Fang
Published in Journal of human genetics (01.05.2020)
Published in Journal of human genetics (01.05.2020)
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The SMN1 common variant c.22 dupA in Chinese patients causes spinal muscular atrophy by nonsense-mediated mRNA decay in humans
Bai, JinLi, Qu, YuJin, Cao, YanYan, Yang, Lan, Ge, Lin, Jin, YuWei, Wang, Hong, Song, Fang
Published in Gene (20.02.2018)
Published in Gene (20.02.2018)
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Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy
Yanyan, Cao, Yujin, Qu, Jinli, Bai, Yuwei, Jin, Hong, Wang, Fang, Song
Published in Journal of human genetics (01.01.2014)
Published in Journal of human genetics (01.01.2014)
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Association among biomarkers, phenotypes, and motor milestones in Chinese patients with 5q spinal muscular atrophy types 1-3
Ouyang, Shijia, Peng, Xiaoyin, Huang, Wenchen, Bai, Jinli, Wang, Hong, Jin, Yuwei, Jiao, Hui, Wei, Maoti, Ge, Xiushan, Song, Fang, Qu, Yujin
Published in Frontiers in neurology (02.09.2024)
Published in Frontiers in neurology (02.09.2024)
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Dual Mechanism of a New SMN1 Variant (c.835G>C, p.Gly279Arg) by Interrupting Exon 7 Skipping and YG Oligomerization in Causation of Spinal Muscular Atrophy
Bai, JinLi, Qu, YuJin, Song, Fang, Cao, YanYan, Cheng, Miaomiao, Wang, Jia, Jin, YuWei, Wang, Hong
Published in Journal of molecular neuroscience (2021)
Published in Journal of molecular neuroscience (2021)
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Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA
Qu, Yujin, Bai, Jinli, Jiao, Hui, Qi, Hong, Huang, Wenchen, OuYang, Shijia, Peng, Xiaoyin, Jin, Yuwei, Wang, Hong, Song, Fang
Published in Heliyon (30.03.2024)
Published in Heliyon (30.03.2024)
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A high-fidelity long-read sequencing-based approach enables accurate and effective genetic diagnosis of spinal muscular atrophy
Bai, Jinli, Qu, Yujin, Huang, Wenchen, Meng, Wanli, Zhan, Jiahan, Wang, Hong, Hou, Wenqi, Jin, Yuwei, Mao, Aiping, Song, Fang
Published in Clinica chimica acta (15.01.2024)
Published in Clinica chimica acta (15.01.2024)
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Antisense oligonucleotides targeting the SMN2 promoter region enhance SMN2 expression in spinal muscular atrophy cell lines and mouse model
Wang, Jia, Bai, Jinli, OuYang, Shijia, Wang, Hong, Jin, Yuwei, Peng, Xiaoyin, Ge, Xiushan, Jiao, Hui, Zou, Jizhen, He, Cai, Xiao, Ping, Song, Fang, Qu, Yujin
Published in Human molecular genetics (19.05.2022)
Published in Human molecular genetics (19.05.2022)
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Factors associated with delayed diagnosis of spinal muscular atrophy in China and changes in diagnostic delay
Cao, Yanyan, Cheng, Miaomiao, Qu, Yujin, Bai, Jinli, Peng, Xiaoyin, Ge, Xiushan, Jin, Yuwei, Wang, Hong, Song, Fang
Published in Neuromuscular disorders : NMD (01.06.2021)
Published in Neuromuscular disorders : NMD (01.06.2021)
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Novel Alu-mediated deletions of the SMN1 gene were identified by ultra-long read sequencing technology in patients with spinal muscular atrophy
Bai, Jinli, Qu, Yujin, OuYang, Shijia, Jiao, Hui, Wang, Yang, Li, Jingjing, Huang, Wenchen, Zhao, Yunlong, Peng, Xiaoyin, Wang, Depeng, Jin, Yuwei, Wang, Hong, Song, Fang
Published in Neuromuscular disorders : NMD (01.05.2023)
Published in Neuromuscular disorders : NMD (01.05.2023)
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Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype
Yanyan, Cao, Miaomiao, Cheng, Fang, Song, Yujin, Qu, Jinli, Bai, Hong, Wang
Published in Yíchuán (16.02.2021)
Published in Yíchuán (16.02.2021)
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The natural history of infant spinal muscular atrophy in China: a study of 237 patients
Ge, Xiushan, Bai, Jinli, Lu, Yanyu, Qu, Yujin, Song, Fang
Published in Journal of child neurology (01.04.2012)
Published in Journal of child neurology (01.04.2012)
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Clinical characteristics and genetics functional analysis of two children with Spinal muscular atrophy
Huang, Wenchen, Bai, Jinli, Wang, Hong, Jin, Yuwei, Peng, Xiaoyin, Ge, Xiushan, Jiao, Hui, Qu, Yujin, Song, Fang
Published in Zhonghua yi xue yi chuan xue za zhi (10.10.2024)
Published in Zhonghua yi xue yi chuan xue za zhi (10.10.2024)
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X-linked ichthyosis and Crigler-Najjar syndrome I: Coexistence in a male patient with two copy number variable regions of 2q37.1 and Xp22.3
BAI, JINLI, QU, YUJIN, CAO, YANYAN, LI, YAN, ZHANG, WENHUI, JIN, YUWEI, WANG, HONG, SONG, FANG
Published in Molecular medicine reports (01.02.2016)
Published in Molecular medicine reports (01.02.2016)
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Screening for genetic mutations in hyperphenylalaninemia using Ion Torrent PGM sequencing
Cao, Yanyan, Qu, Yujin, Song, Fang, Bai, Jinli, Jin, Yuwei, Wang, Hong
Published in Zhonghua yi xue yi chuan xue za zhi (01.02.2015)
Published in Zhonghua yi xue yi chuan xue za zhi (01.02.2015)
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Analysis of SMN1 gene partial deletion of spinal muscular atrophy based on MLPA
Zhang, Wenhui, Cao, Yanyan, Song, Fang, Qu, Yujin, Bai, Jinli, Jin, Yuwei, Wang, Hong
Published in Zhong hua yi xue za zhi (10.02.2015)
Published in Zhong hua yi xue za zhi (10.02.2015)
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