Search Results - "Sui, Ruifang"

A Review of Machine Learning Algorithms for Retinal Cyst Segmentation on Optical Coherence Tomography by Wei, Xing, Sui, Ruifang

“…Optical coherence tomography (OCT) is an emerging imaging technique for diagnosing ophthalmic diseases and the visual analysis of retinal structure changes,…”
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Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial by Koenekoop, Robert K, Prof, Sui, Ruifang, MD, Sallum, Juliana, MD, van den Born, L Ingeborgh, MD, Ajlan, Radwan, MBBCh, Khan, Ayesha, MD, den Hollander, Anneke I, PhD, Cremers, Frans P M, Prof, Mendola, Janine D, PhD, Bittner, Ava K, OD/PhD, Dagnelie, Gislin, PhD, Schuchard, Ronald A, PhD, Saperstein, David A, MD

“…Summary Background Leber congenital amaurosis, caused by mutations in RPE65 and LRAT , is a severe form of inherited retinal degeneration leading to blindness…”
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Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome by Luo, Minna, Lin, Zaisheng, Zhu, Tian, Jin, Minjun, Meng, Dan, He, Ruida, Cao, Zongfu, Shen, Yue, Lu, Chao, Cai, Ruikun, Zhao, Yong, Wang, Xueyan, Li, Hui, Wu, Shijing, Zou, Xuan, Luo, Guanjun, Cao, Li, Huang, Min, Jiao, Huike, Gao, Huafang, Sui, Ruifang, Zhao, Chengtian, Ma, Xu, Cao, Muqing

“…Ciliopathies are a group of disorders caused by defects of the cilia. Joubert syndrome (JBTS) is a recessive and pleiotropic ciliopathy that causes cerebellar…”
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Treating Bietti crystalline dystrophy in a high-fat diet-exacerbated murine model using gene therapy by Qu, Bin, Wu, Shijing, Jiao, Guanyi, Zou, Xuan, Li, Zhikun, Guo, Lu, Sun, Xuehan, Huang, Cheng, Sun, Zixi, Zhang, Ying, Li, Hui, Zhou, Qi, Sui, Ruifang, Li, Wei

“…Lipid metabolic deficiencies are associated with many genetic disorders. Bietti crystalline dystrophy (BCD), a blindness-causing inherited disorder with…”
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Generation of a human induced pluripotent stem cell line (PUMCHi018-A) from an early-onset severe retinal dystrophy patient with RDH12 mutations by Zou, Xuan, Wu, Shijing, Zhu, Tian, Sun, Zixi, Wei, Xing, Li, Wuyi, Sui, Ruifang

“…RDH12 mutations have been identified in patients diagnosed with severe early-onset retinal dystrophy, including Leber congenital amaurosis (LCA) and…”
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Mutations in human IFT140 cause non-syndromic retinal degeneration by Xu, Mingchu, Yang, Lizhu, Wang, Feng, Li, Huajin, Wang, Xia, Wang, Weichen, Ge, Zhongqi, Wang, Keqing, Zhao, Li, Li, Hui, Li, Yumei, Sui, Ruifang, Chen, Rui

“…Leber congenital amaurosis (LCA) and retinitis pigmentosa (RP) are two genetically heterogeneous retinal degenerative disorders. Despite the identification of…”
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Generation of a human induced pluripotent stem cell line PUMCHi019-A from a dominant optic atrophy patient with an OPA1 mutation by Sun, Zixi, Wu, Shijing, Zhu, Tian, Wei, Xing, Han, Xiaoxu, Zou, Xuan, Sui, Ruifang

“…Dominant optic atrophy (DOA) is one of the most common type of hereditary optic atrophy. Here, we describe the generation and characterization of a human…”
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Generation of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations by Wu, Shijing, Zhu, Tian, Sun, Zixi, Wei, Xing, Han, Xiaoxu, Zou, Xuan, Sui, Ruifang

“…Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessively inherited progressive retinal disease. Here, we describe the generation and…”
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Generation of a human induced pluripotent stem cell line PUMCHi017-A from a Choroideremia patient with CHM mutation by Han, Xiaoxu, Wu, Shijing, Sun, Zixi, Zhu, Tian, Wei, Xing, Zou, Xuan, Sui, Ruifang

“…Choroideremia (CHM) is a rare monogenic, X-linked recessive inherited chorioretinal dystrophy caused by loss of function variants in the CHM gene. We…”
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Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1 by Zhong, Linqing, Wang, Jun, Wang, Wei, Wang, Lin, Quan, Meiying, Tang, Xiaoyan, Gou, Lijuan, Wei, Min, Xiao, Juan, Zhang, Tiannan, Sui, Ruifang, Zhou, Qing, Song, Hongmei

“…ROSAH syndrome was recently identified as an autosomal dominant systemic disorder due to mutations in ALPK1 . It was characterized by retinal dystrophy, optic…”
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Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome by Ling, Chao, Sui, Ruifang, Yao, Fengxia, Wu, Zhihong, Zhang, Xue, Zhang, Shuyang

“…Nance-Horan syndrome (NHS) is an X-linked inheritance disorder characterized by bilateral congenital cataracts, and facial and dental dysmorphism. This…”
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Generation of two human induced pluripotent stem cell lines from patients with biallelic USH2A variants by Zhu, Tian, Wu, Shijing, Sun, Zixi, Wei, Xing, Han, Xiaoxu, Zou, Xuan, Sui, Ruifang

“…•Human induced pluripotent stem cell (hiPSC) from patients with biallelic USH2A variants exhibits the pluripotency and differentiation capacity, is an ideal…”
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Rep1 copy number variation is an important genetic cause of choroideremia in Chinese patients by Zhou, Qi, Yao, Fengxia, Han, Xiaoxu, Li, Hui, Yang, Lizhu, Sui, Ruifang

“…Choroidermia (CHM) is an X-linked chorioretinal disorder caused by mutations in the Rab Escort Protein 1 (Rep-1) gene. Its diagnosis depends on clinical…”
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Characteristics and risk factors of retinal vasculopathy in antiphospholipid syndrome by Xie, Zhijuan, Li, Hui, Qi, Wanting, Li, Jing, Wu, Chanyuan, Hu, Chaojun, Jiang, Nan, Wang, Qian, Tian, Xinping, Li, Mengtao, Zhao, Jiuliang, Sui, Ruifang, Zeng, Xiaofeng

“…Background Retinal vasculopathy including retinal artery occlusion (RAO) or retinal vein occlusion (RVO) was recently found to occur more frequently in…”
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Deep Learning with Automatic Data Augmentation for Segmenting Schisis Cavities in the Optical Coherence Tomography Images of X-Linked Juvenile Retinoschisis Patients by Wei, Xing, Li, Hui, Zhu, Tian, Li, Wuyi, Li, Yamei, Sui, Ruifang

“…X-linked juvenile retinoschisis (XLRS) is an inherited disorder characterized by retinal schisis cavities, which can be observed in optical coherence…”
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The phenotypic variability of HK1-associated retinal dystrophy by Yuan, Zhisheng, Li, Baiyu, Xu, Mingchu, Chang, Emmanuel Y., Li, Huajin, Yang, Lizhu, Wu, Shijing, Soens, Zachry T., Li, Yumei, Wong, Lee-Jun C., Lewis, Richard A., Sui, Ruifang, Chen, Rui

“…Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells. The…”
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Correction to: Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome by Luo, Minna, Lin, Zaisheng, Zhu, Tian, Jin, Minjun, Meng, Dan, He, Ruida, Cao, Zongfu, Shen, Yue, Lu, Chao, Cai, Ruikun, Zhao, Yong, Wang, Xueyan, Li, Hui, Wu, Shijing, Zou, Xuan, Luo, Guanjun, Cao, Li, Huang, Min, Jiao, Huike, Gao, Huafang, Sui, Ruifang, Zhao, Chengtian, Ma, Xu, Cao, Muqing

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Structural modeling, mutation analysis, and in vitro expression of usherin, a major protein in inherited retinal degeneration and hearing loss by Yu, Dongmei, Zou, Junhuang, Chen, Qian, Zhu, Tian, Sui, Ruifang, Yang, Jun

“…[Display omitted] Usherin is the most common causative protein associated with autosomal recessive retinitis pigmentosa (RP) and Usher syndrome (USH), which…”
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Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1 by Han, Xiaoxu, Wu, Shijing, Wang, Min, Li, Hui, Huang, Yan, Sui, Ruifang

“…Background Sialidosis type 1 is a rare inherited disorder with a high disability. No genetically confirmed mainland Chinese patient with sialidosis type 1 has…”
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Unilateral retinocytoma associated with a variant in the RB1 gene by Wu, Shijing, Zou, Xuan, Sun, Zixi, Zhu, Tian, Wei, Xing, Sui, Ruifang

“…Background Retinocytoma is a rare benign retinal tumor associated with variants in the RB1 gene. Ophthalmoscopic features can include a translucent retinal…”
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