Zobrazeno 1 - 10
of 431
pro vyhledávání: '"Best1"'
Autor:
Dongsheng Zhao, Victoria Y. Gu, Yafu Wang, Jie Peng, Jiao Lyu, Ping Fei, Yu Xu, Xiang Zhang, Peiquan Zhao
Publikováno v:
BMC Ophthalmology, Vol 24, Iss 1, Pp 1-9 (2024)
Abstract Purpose To provide a genotype and phenotype characterization of the BEST1 mutation in Chinese patients with autosomal recessive bestrophinopathy (ARB) through multimodal imaging and next-generation sequencing (NGS). Methods Seventeen patient
Externí odkaz:
https://doaj.org/article/ec45b9a0b1a243b78991eb0c9f47dfa0
Autor:
Shuai Xiong, Hui Xiao, Meng Sun, Yunjie Liu, Ling Gao, Ke Xu, Haiying Liang, Nan Jiang, Yuhui Lin, Lei Chang, Haiyin Wu, Dongya Zhu, Chunxia Luo
Publikováno v:
Acta Pharmaceutica Sinica B, Vol 13, Iss 7, Pp 3008-3026 (2023)
Many efforts have been made to understand excitotoxicity and develop neuroprotectants for the therapy of ischemic stroke. The narrow treatment time window is still to be solved. Given that the ischemic core expanded over days, treatment with an exten
Externí odkaz:
https://doaj.org/article/a3c8ae2c067a4bf79cfacb7c50d0a980
Publikováno v:
BMC Ophthalmology, Vol 23, Iss 1, Pp 1-6 (2023)
Abstract Background Best vitelliform macular dystrophy (BVMD), caused by pathogenic variants of the BEST1 gene, has not been reported in association with cataracts and ocular malformations. We reported a case with a complex ocular phenotype comprisin
Externí odkaz:
https://doaj.org/article/40cdd9346faf45f9a16a6dd1e84928cf
Publikováno v:
BMC Ophthalmology, Vol 23, Iss 1, Pp 1-7 (2023)
Abstract Background Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that may affect multiple systems of the body. Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy caused by autosomal recessively mutations in bes
Externí odkaz:
https://doaj.org/article/6400d4deb6ba4269accee9ef5995ceb3
Autor:
Lorenzo Bianco, MD, Alessandro Arrigo, MD, PhD, Alessandro Marchese, MD, Alessio Antropoli, MD, Emanuela Aragona, MD, PhD, Lamberto La Franca, MD, Luca Mauro, MD, Adelaide Pina, MsC, Rashid Hassan Farah, MsC, Giulia Basile, MsC, Francesco Bandello, MD, FEBO, Maurizio Battaglia Parodi, MD
Publikováno v:
Ophthalmology Science, Vol 3, Iss 4, Pp 100329- (2023)
Purpose: To analyze fixation location and stability in best vitelliform macular dystrophy (BVMD) and test their association with best-corrected visual acuity (BCVA). Design: Observational, cross-sectional study. Participants: Thirty patients (55 eyes
Externí odkaz:
https://doaj.org/article/1c233c850f064a649d5e22d6bdc4c551
Autor:
Obaid Imtiyazul Haque, Anbukayalvizhi Chandrasekaran, Faisal Nabi, Owais Ahmad, João Pedro Marques, Tanweer Ahmad
Publikováno v:
BMC Ophthalmology, Vol 22, Iss 1, Pp 1-11 (2022)
Abstract Purpose To describe the clinical features, imaging characteristics, and genetic test results associated with a novel compound heterozygous mutation of the BEST1 gene in two siblings with autosomal recessive bestrophinopathy. Methods Two sibl
Externí odkaz:
https://doaj.org/article/b6de372fa6df491ab5989e5de2075558
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Autor:
Xue Yin, Qinhua Cai
Publikováno v:
BMC Ophthalmology, Vol 22, Iss 1, Pp 1-6 (2022)
Abstract Background It is rare for a patient to be diagnosed with branch retina vein occlusion (BRVO), angle-closure glaucoma (ACG) and autosomal recessive bestrophinopathy (ARB). ARB is strongly associated with ACG. Although glaucoma is a significan
Externí odkaz:
https://doaj.org/article/9eaf337601e549878169727bc8b85472
Autor:
Zhi-Hong Zhu, Xin Jin, Yi-Xin Zhang, Rui Wang, Tong Wu, Wei Liu, Ze-Hua Chen, Hai-Nan Xie, Lan-Lan Chen, Zi-Hao Liu, Hou-Bin Huang
Publikováno v:
International Journal of Ophthalmology, Vol 15, Iss 2, Pp 205-212 (2022)
AIM: To describe the clinical heterogeneity of patients with novel mutations in BEST1. METHODS: All the members in the two Chinese families underwent detailed clinical evaluations including best-corrected visual acuity, slit-lamp examination, applana
Externí odkaz:
https://doaj.org/article/c30fb6bbf0b741d4921de97976ebb02b
Autor:
Shangying Yang, Zhen Li, Wanyu Cheng, Meijiao Ma, Rui Qi, Xue Rui, Yinghua Ren, Xunlun Sheng, Weining Rong
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 1, Pp n/a-n/a (2023)
Abstract Purpose To report novel BEST1 variants in six Chinese families with bestrophinopathies of two different inheritance modes and analyze the intrafamilial phenotypic diversity. Method A total of 25 participants including 13 patients and 12 heal
Externí odkaz:
https://doaj.org/article/53af159aed1e43af88aa48a24c15d6ed