Human Genome Epidemiology Literature Finder
Records 1 - 28 (of 28 Records) |
Query Trace: BEST1[original query] |
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Novel and homozygous BEST1 mutations in Chinese patients with Best vitelliform macular dystrophy. Retina (Philadelphia, Pa.) 2010 1 30 (5): 820-7. Wong Raymond L M, Hou Ping, Choy Kwong-Wai, Chiang Sylvia W Y, Tam Pancy O S, Li Haitao, Chan Wai-Man, Lam Dennis S C, Pang Chi-Pui, Lai Timothy Y |
Association of pattern dystrophy with an HTRA1 single-nucleotide polymorphism. Archives of ophthalmology (Chicago, Ill. : 1960) 2012 Aug 130 (8): 987-91. Jaouni Tareq, Averbukh Edward, Burstyn-Cohen Tal, Grunin Michelle, Banin Eyal, Sharon Dror, Chowers It |
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss. Investigative ophthalmology & visual science 2014 Sep 55 (9): 5510-21. Alapati Akhila, Goetz Kerry, Suk John, Navani Mili, Al-Tarouti Amani, Jayasundera Thiran, Tumminia Santa J, Lee Pauline, Ayyagari Rad |
Screening for BEST1 gene mutations in Chinese patients with bestrophinopathy. Molecular vision 2014 20 1594-604. Tian Rong, Yang Guoxing, Wang Jing, Chen Youx |
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma. International journal of molecular medicine 2015 Oct 36 (4): 1111-7. Huang Xiaobo, Xiao Xueshan, Jia Xiaoyun, Li Shiqiang, Li Miaoling, Guo Xiangming, Liu Xing, Zhang Qingjio |
Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy. Molecular medicine reports 2015 Aug 12 (2): 2584-8. Lin Ying, Gao Hongbin, Liu Yuhua, Liang Xuanwei, Liu Xialin, Wang Zhonghao, Zhang Wanjun, Chen Jiangna, Lin Zhuoling, Huang Xinhua, Liu Yiz |
Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy. Ophthalmic research 2016 Apr . Liu Jingshu, Zhang Yongjin, Xuan Yi, Liu Wei, Wang M |
Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy. Ophthalmic genetics 2016 Feb 1-5. Grunin Michelle, Tiosano Liran, Jaouni Tareq, Averbukh Edward, Sharon Dror, Chowers It |
Stargardt disease-associated mutation spectrum of a Russian Federation cohort. European journal of medical genetics 2017 Feb 60 (2): 140-147. Zolnikova Inna V, Strelnikov Vladimir V, Skvortsova Natalia A, Tanas Alexander S, Barh Debmalya, Rogatina Elena V, Egorova Irina V, Levina Darja V, Demenkova Olga N, Prikaziuk Egor G, Ivanova Marianna |
Characterising the phenotype and progression of sporadic adult-onset foveomacular vitelliform dystrophy. The British journal of ophthalmology 2016 Jan . Tiosano Liran, Grunin Michelle, Hagbi-Levi Shira, Banin Eyal, Averbukh Edward, Chowers It |
Genetic regulation of adipose tissue transcript expression is involved in modulating serum triglyceride and HDL-cholesterol. Gene 2017 Aug . Sajuthi Satria P, Sharma Neeraj K, Comeau Mary E, Chou Jeff W, Bowden Donald W, Freedman Barry I, Langefeld Carl D, Parks John S, Das Swapan |
Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy. Molecular medicine reports 2017 8 16 (4): 4751-4755. Lin Ying, Li Tao, Gao Hongbin, Lian Yu, Chen Chuan, Zhu Yi, Li Yonghao, Liu Bingqian, Zhou Wenli, Jiang Hongye, Liu Xialin, Zhao Xiujuan, Liang Xiaoling, Jin Chenjin, Huang Xinhua, Lu L |
NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY. Retina (Philadelphia, Pa.) 2018 5 39 (8): 1613-1622. Guo Jingli, Gao Fengjuan, Tang Wenyi, Qi Yuhe, Xuan Yi, Liu Wei, Li Lei, Ye Xiaofeng, Xu Gezhi, Wu Jihong, Zhang Yongj |
Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. BioMed research international 2018 12 2018 4582816. Gao Tingting, Tian Chengqiang, Hu Qinrui, Liu Zhiming, Zou Jimei, Huang Lvzhen, Zhao Mingw |
EYES WITH SUBRETINAL DRUSENOID DEPOSITS AND NO DRUSEN: Progression of Macular Findings. Retina (Philadelphia, Pa.) 2018 Oct . Spaide Richard F, Yannuzzi Lawrence, Freund K Bailey, Mullins Robert, Stone Edw |
ADULT-ONSET VITELLIFORM MACULAR DYSTROPHY SECONDARY TO A NOVEL IMPG2 GENE VARIANT. Retinal cases & brief reports 2018 10 15 (4): 356-358. Shah Saumya M, Schimmenti Lisa A, Marmorstein Alan D, Bakri Sophie |
Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy. The British journal of ophthalmology 2019 9 104 (6): 846-851. Gao Feng-Juan, Qi Yu-He, Hu Fang-Yuan, Wang Dan-Dan, Xu Ping, Guo Jing-Li, Li Jian-Kang, Zhang Yong-Jin, Li Wei, Chen Fang, Xu Ge-Zhi, Liu Wei, Chang Qing, Wu Ji-Ho |
Investigating the role of BEST1 and PRPH2 variants in the molecular aetiology of adult-onset vitelliform macular dystrophies. Ophthalmic genetics 2020 9 41 (6): 585-590. Çavdarli Cemal, Çavdarl? Bü?ranur, Alp Mehmet Num |
Novel variants associated with Stargardt disease in Chinese patients. Gene 2020 6 754 144890. Hu Fangyuan, Gao Fengjuan, Li Jiankang, Xu Ping, Wang Dandan, Chen Fang, Zhang Shenghai, Wu Jiho |
The Clinical Features and Genetic Spectrum of a Large Cohort of Chinese Patients With Vitelliform Macular Dystrophies. American journal of ophthalmology 2020 Apr . Xuan Yi, Zhang Youjia, Zong Yuan, Wang Min, Li Lei, Ye Xiaofeng, Liu Wei, Chen Junyi, Sun Xinghuai, Zhang Yongjin, Chen Yuho |
Multimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients. Experimental and therapeutic medicine 2021 8 22 (3): 1034. Lin Ying, Li Tao, Liu Bingqian, Lyu Cancan, Lian Yu, Li Jizhu, Huang Ying, Li Haichun, Wu Qingxiu, Jin Chenjin, Lu L |
Novel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings. Taiwan journal of ophthalmology 2021 3 11 (1): 71-76. Yamada Rika, Takagi Rina, Iwamoto Sadahiko, Shimada Shoichi, Kakehashi Akihi |
Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene. Ophthalmic genetics 2022 9 1-3. Hemptinne Coralie, Willermain François, de Jong Casper, Postolache Lavinia, Postelmans Lauren |
Dissection of mendelian predisposition and complex genetic architecture of craniovertebral junction malformation. Human genetics 2022 Sep . Liu Zhenlei, Du Huakang, Zhao Hengqiang, Cai Siyi, Zhao Sen, Niu Yuchen, Li Xiaoxin, Liu Bowen, Huang Yingzhao, Shao Jiashen, Liu Lian, Tian Ye, Wu Zhihong, Wu Hao, Hu Yue, Zhang Terry Jianguo, Jian Fengzeng, Wu N |
Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons. Experimental eye research 2022 8 223 109217. Wang Yingwei, Jiang Yi, Li Xueqing, Xiao Xueshan, Li Shiqiang, Sun Wenmin, Wang Panfeng, Zhang Qingjio |
Novel IMPG2 variant causing adult macular vitelliform dystrophy: A case report. European journal of ophthalmology 2023 9 11206721231199850. Nicolò Ribarich, Maria Chiara Rivolta, Riccardo Sacconi, Giuseppe Querqu |
Polygenic Risk Score and Rare Variant Burden Identified by Targeted Sequencing in a Group of Patients with Pigment Epithelial Detachment in Age-Related Macular Degeneration. Genes 2023 9 14 (9): . Anna W?sowska, Adam Sendecki, Anna Boguszewska-Chachulska, S?awomir Tep |
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina. NPJ genomic medicine 2023 5 8 (1): 8. Patricio G Schlottmann, José D Luna, Natalia Labat, María Belén Yadarola, Silvina Bainttein, Evangelina Esposito, Agustina Ibañez, Evangelina Ivón Barbaro, Alejandro Álvarez Mendiara, Carolina P Picotti, Andrea Chirino Misisian, Luciana Andreussi, Julieta Gras, Luciana Capalbo, Mauro Visotto, José E Dipierri, Emilio Alcoba, Laura Fernández Gabrielli, Silvia Ávila, María Emilia Aucar, Daniel M Martin, Gerardo Juan Ormaechea, M Eugenia Inga, Aníbal A Francone, Martin Charles, Tamara Zompa, Pablo Javier Pérez, Vanesa Lotersztein, Pedro J Nuova, Ivana B Canonero, Omar A Mahroo, Michel Michaelides, Gavin Arno, Malena Daich Vare |
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- Page last updated:Apr 22, 2024
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