A deletion variant Arg616 of androgen receptor in a Chinese family with complete androgen insensitivity syndrome
Ding, Leilei, Zhang, Duoduo, Yao, Fengxia, Luo, Min, Deng, Shan, Tian, Qinjie
Published in Frontiers in genetics (09.05.2023)
Published in Frontiers in genetics (09.05.2023)
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Clinical characteristics and molecular etiology of partial 17α-hydroxylase deficiency diagnosed in 46,XX patients
Zhang, Duoduo, Yao, Fengxia, Luo, Min, Wang, Yanfang, Tian, Tiffany, Deng, Shan, Tian, Qinjie
Published in Frontiers in endocrinology (Lausanne) (15.12.2022)
Published in Frontiers in endocrinology (Lausanne) (15.12.2022)
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Phenotypic and genetic characteristics of 130 patients with mucopolysaccharidosis type II: A single-center retrospective study in China
Zhang, Zhenjie, Ma, Mingsheng, Zhang, Weimin, Zhou, Yu, Yao, Fengxia, Zhu, Lisi, Wei, Min, Qiu, Zhengqing
Published in Frontiers in genetics (13.01.2023)
Published in Frontiers in genetics (13.01.2023)
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Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome
Ling, Chao, Sui, Ruifang, Yao, Fengxia, Wu, Zhihong, Zhang, Xue, Zhang, Shuyang
Published in BMC medical genetics (14.01.2019)
Published in BMC medical genetics (14.01.2019)
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Mutation Analysis of 16 Mucolipidosis II and III Alpha/Beta Chinese Children Revealed Genotype-Phenotype Correlations
Liu, Shuang, Zhang, Weimin, Shi, Huiping, Yao, Fengxia, Wei, Min, Qiu, Zhengqing
Published in PloS one (23.09.2016)
Published in PloS one (23.09.2016)
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Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients
Zhou, Qi, Yao, Fengxia, Han, Xiaoxu, Li, Hui, Yang, Lizhu, Sui, Ruifang
Published in Experimental eye research (01.11.2017)
Published in Experimental eye research (01.11.2017)
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Prenatal Diagnosis of Dystrophinopathy and Cytogenetic Analysis in 303 Chinese Families
Li, Mengmeng, Hao, Na, Yao, Fengxia, Zhang, Weimin, Zhou, Jing, Tan, Li, Qiu, Zhengqing, Liu, Juntao
Published in Maternal-fetal medicine (Online) (01.10.2021)
Published in Maternal-fetal medicine (Online) (01.10.2021)
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Array-based comparative genomic hybridization is more informative than conventional karyotyping and fluorescence in situ hybridization in the analysis of first-trimester spontaneous abortion
Gao, Jinsong, Liu, Congcong, Yao, Fengxia, Hao, Na, Zhou, Jing, Zhou, Qian, Zhang, Liang, Liu, Xinyan, Bian, Xuming, Liu, Juntao
Published in Molecular cytogenetics (16.07.2012)
Published in Molecular cytogenetics (16.07.2012)
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FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum
Wei, Xing, Li, Hui, Zhu, Tian, Yao, Fengxia, Sui, Ruifang
Published in Experimental eye research (01.09.2023)
Published in Experimental eye research (01.09.2023)
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Clinical characteristics and molecular genetics of complete androgen insensitivity syndrome patients: a series study of 30 cases from a Chinese tertiary medical center
Zhang, Duoduo, Yao, Fengxia, Tian, Tiffany, Deng, Shan, Luo, Min, Tian, Qinjie
Published in Fertility and sterility (01.05.2021)
Published in Fertility and sterility (01.05.2021)
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Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy
Li, Huajin, Wei, Xing, Wu, Shijing, Zhu, Tian, Sun, Zixi, Li, Hui, Han, Xiaoxu, Zou, Xuan, Yao, Fengxia, Sui, Ruifang
Published in Graefe's archive for clinical and experimental ophthalmology (2024)
Published in Graefe's archive for clinical and experimental ophthalmology (2024)
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Clinical and genetic characteristics of 17 Chinese patients with glycogen storage disease type IXa
Zhang, Jiangwei, Yuan, Yuheng, Ma, Mingsheng, Liu, Yan, Zhang, Weimin, Yao, Fengxia, Qiu, Zhengqing
Published in Gene (05.09.2017)
Published in Gene (05.09.2017)
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Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies
Ling, Chao, Dai, Yi, Fang, Li, Yao, Fengxia, Liu, Zhe, Qiu, Zhengqing, Cui, Liying, Xia, Fan, Zhao, Chen, Zhang, Shuyang, Wang, Kai, Zhang, Xue
Published in Human mutation (01.03.2020)
Published in Human mutation (01.03.2020)
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Systematic assessment of the contribution of structural variants to inherited retinal diseases
Wen, Shu, Wang, Meng, Qian, Xinye, Li, Yumei, Wang, Keqing, Choi, Jongsu, Pennesi, Mark E, Yang, Paul, Marra, Molly, Koenekoop, Robert K, Lopez, Irma, Matynia, Anna, Gorin, Michael, Sui, Ruifang, Yao, Fengxia, Goetz, Kerry, Porto, Fernanda Belga Ottoni, Chen, Rui
Published in Human molecular genetics (05.06.2023)
Published in Human molecular genetics (05.06.2023)
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Clinical characterization and the improved molecular diagnosis of autosomal dominant cone-rod dystrophy in patients with SCA7
Zou, Xuan, Yao, Fengxia, Li, Fengrong, Wu, Shijing, Li, Hui, Sun, Zixi, Zhu, Tian, Wei, Xing, Li, Donghui, Sui, Ruifang
Published in Molecular vision (2021)
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Published in Molecular vision (2021)
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Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline
Geng, Chang, Zhang, Ciliu, Li, Pidong, Tong, Yuanren, Zhu, Baosheng, He, Jing, Zhao, Yanhuan, Yao, Fengxia, Cui, Li-Ying, Liang, Fan, Wang, Yang, Wang, Yaru, Jin, Hongshuai, Lang, Dandan, Liu, Shanlin, Wang, Depeng, Park, Min S, Chen, Lin, Peng, Jing, Dai, Yi
Published in European journal of human genetics : EJHG (01.05.2023)
Published in European journal of human genetics : EJHG (01.05.2023)
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Genotype--Phenotype Correlation Analysis and Identification of a Novel SRD5A2 Mutation in Four Unrelated Chinese Patients with 5[alpha]-Reductase Deficiency
Gui, Ting, Yao, Fengxia, Yang, Xinzhuang, Wang, Xi, Nie, Min, Wu, Xueyan, Tian, Qinjie
Published in International journal of general medicine (31.08.2022)
Published in International journal of general medicine (31.08.2022)
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A heterozygous mutation in RPGR associated with X‐linked retinitis pigmentosa in a patient with Turner syndrome mosaicism (45,X/46,XX)
Zhou, Qi, Yao, Fengxia, Wang, Feng, Li, Hui, Chen, Rui, Sui, Ruifang
Published in American journal of medical genetics. Part A (01.01.2018)
Published in American journal of medical genetics. Part A (01.01.2018)
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