Human Genome Epidemiology Literature Finder
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Records 1 - 16 (of 16 Records) |
| Query Trace: Disease and 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Refractive Error in Inherited Retinal Disease. American journal of ophthalmology 2024 9 . Shaden H Yassin, Naomi E Wagner, Thomas Khuu, Ryan Schmidt, Austin D Igelman, Molly Marra, Hilary Schwartz, Evan Walker, Aaron Nagiel, Paul Yang, Lesley A Everett, Mark E Pennesi, Shyamanga Boroo |
| Sex Distributions in Non-ABCA4 Autosomal Macular Dystrophies. Investigative ophthalmology & visual science 2024 5 65 (5): 9. Amit V Mishra, Sandra Vermeirsch, Siying Lin, Maria P Martin-Gutierrez, Mark Simcoe, Nikolas Pontikos, Elena Schiff, Thales A C de Guimarães, Pirro G Hysi, Michel Michaelides, Gavin Arno, Andrew R Webster, Omar A Mahr |
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