Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 30 (of 287 Records) |
Query Trace: Retinitis Pigmentosa[original query] |
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Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin. Frontiers in genetics 2023 9 14 1240067. Young Hoon Jung, Jay Jiyong Kwak, Kwangsic Joo, Hyuk Jun Lee, Kyu Hyung Park, Min Seok Kim, Eun Kyoung Lee, Suk Ho Byeon, Christopher Seungkyu Lee, Jinu Han, Junwon Lee, Chang Ki Yoon, Se Joon W |
Skewed X-inactivation is associated with retinal dystrophy in female carriers of RPGR mutations. Life science alliance 2023 8 6 (10): . Muhammad Usman, Christoph Jüschke, Fei Song, Dennis Kastrati, Marta Owczarek-Lipska, Jannis Eilers, Laurenz Pauleikhoff, Clemens Lange, John Neidhar |
A Novel Pair of Compound Heterozygous Mutation of EYS in a Han Chinese Family with Retinitis Pigmentosa. Genetic testing and molecular biomarkers 2023 8 27 (8): 258-266. Chao Dai, Weiming Ren, Yao Wei, Chunbao Xie, Suyang Duan, Qi Li, Lingxi Jiang, Yi S |
Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa. Investigative ophthalmology & visual science 2023 8 64 (11): 18. Carina Kelbsch, Melanie Kempf, Ronja Jung, Friederike Kortüm, Milda Reith, Laura Kuehlewein, Susanne Kohl, Torsten Strasser, Tobias Peters, Helmut Wilhelm, Barbara Wilhelm, Krunoslav Stingl, Katarina Stin |
Clinical Characteristics and Genetic Variants of a Large Cohort of Patients with Retinitis Pigmentosa Using Multimodal Imaging and Next Generation Sequencing. International journal of molecular sciences 2023 7 24 (13): . Richard Sather, Jacie Ihinger, Michael Simmons, Tahsin Khundkar, Glenn P Lobo, Sandra R Montezu |
Generation of CRB1 RP Patient-Derived iPSCs and a CRISPR/Cas9-Mediated Homology-Directed Repair Strategy for the CRB1 c.2480G>T Mutation. Advances in experimental medicine and biology 2023 7 1415 571-576. Bruna Lopes da Costa, Yao Li, Sarah R Levi, Stephen H Tsang, Peter M J Qui |
USH2A mutational spectrum causing syndromic and non-syndromic retinal dystrophies in a large cohort of Mexican patients. Molecular vision 2023 6 29 31-38. Vianey Ordoñez-Labastida, Oscar F Chacon-Camacho, Victor R Lopez-Rodriguez, Juan C Zente |
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry. Molecular vision 2023 6 29 1-12. Tamar Ben Yosef, Eyal Banin, Elana Chervinsky, Stavit A Shalev, Rina Leibu, Eedy Mezer, Ygal Rotenstreich, Nitza Goldenberg-Cohen, Shirel Weiss, Muhammad Imran Khan, Daan M Panneman, Rebekkah J Hitti-Malin, Chen Weiner, Susanne Roosing, Frans P M Cremers, Eran Pras, Dinah Zur, Hadas Newman, Iris Deitch, Dror Sharon, Miriam Ehrenbe |
Comprehensive genotyping and phenotyping analysis of GUCY2D-associated rod- and cone-dominated dystrophies. American journal of ophthalmology 2023 6 . Cristina Rodilla, Inmaculada Martín-Merida, Fiona Blanco-Kelly, María José Trujillo-Tiebas, Almudena Avila-Fernandez, Rosa Riveiro-Alvarez, Marta Del Pozo-Valero, Irene Perea-Romero, Saoud T Swafiri, Olga Zurita, Cristina Villaverde, Miguel A López, Raquel Romero, Ionut Florin Iancu, Gonzalo Núñez-Moreno, Belén Jiménez-Rolando, María Pilar Martin-Gutierrez, Ester Carreño, Pablo Minguez, Blanca García-Sandoval, Carmen Ayuso, Marta Cort |
Natural history of retinitis pigmentosa based on genotype, vitamin A/E supplementation, and an electroretinogram biomarker. JCI insight 2023 6 . Jason Comander, Carol Weigel DiFranco, Kit Green Sanderson, Emily M Place, Matthew Maher, Erin Zampaglione, Yan Zhao, Rachel M Huckfeldt, Kinga M Bujakowska, Eric A Pier |
Genotypic Profile and Clinical Characteristics of CRX-Associated Retinopathy in Koreans. Genes 2023 5 14 (5): . Dong Geun Kim, Kwangsic Joo, Jinu Han, Mihyun Choi, Seong-Woo Kim, Kyu Hyung Park, Sang Jun Park, Christopher Seungkyu Lee, Suk Ho Byeon, Se Joon W |
Identification of novel variants in retinitis pigmentosa genes by whole-exome sequencing. Revista da Associacao Medica Brasileira (1992) 2023 5 69 (5): e20221073. Ayca Kocaaga, ?rem Öztürk Aköz, Nihal Ulus Demir, Bari? Paks |
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 |
A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India. BMC ophthalmology 2023 5 23 (1): 210. Shiwali Goyal, Kabir Singh, Aashna Uppal, Vanita Vani |
Driving with retinitis pigmentosa. Ophthalmic genetics 2023 4 1-9. Heath Jeffery Rachael C, Lo Johnny, Thompson Jennifer A, Lamey Tina M, McLaren Terri L, DeRoach John N, Kabilio Miguel S, Chen Fred |
Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa. Genes 2023 4 14 (4): . Samuel Koller, Tim Beltraminelli, Jordi Maggi, Agnès Wlodarczyk, Silke Feil, Luzy Baehr, Christina Gerth-Kahlert, Moreno Menghini, Wolfgang Berg |
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review. International journal of molecular sciences 2023 4 24 (7): . Wang Yingwei, Wang Junwen, Jiang Yi, Zhu Di, Ouyang Jiamin, Yi Zhen, Li Shiqiang, Jia Xiaoyun, Xiao Xueshan, Sun Wenmin, Wang Panfeng, Zhang Qingjio |
Genetic Characteristics and Long-Term Follow-Up of Slovenian Patients with RPGR Retinal Dystrophy. International journal of molecular sciences 2023 2 24 (4): . Hadalin Vlasta, Buscarino Maša, Sajovic Jana, Megli? Andrej, Jarc-Vidmar Martina, Hawlina Marko, Volk Marija, Fakin A |
Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort. Genes 2023 2 14 (2): . Lisbjerg Kristian, Grønskov Karen, Bertelsen Mette, Møller Lisbeth Birk, Kessel Li |
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa. Diagnostics (Basel, Switzerland) 2023 2 13 (4): . Wawrocka Anna, Socha Magdalena, Walczak-Sztulpa Joanna, Koczyk Grzegorz, Skorczyk-Werner Anna, Krawczy?ski Maciej |
Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population. Japanese journal of ophthalmology 2023 12 . Saki Tsutsui, Yusuke Murakami, Kohta Fujiwara, Yoshito Koyanagi, Masato Akiyama, Atsunobu Takeda, Yasuhiro Ikeda, Koh-Hei Sono |
HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis. Retina (Philadelphia, Pa.) 2023 12 44 (1): 117-126. Li Huang, Yanting Lai, Limei Sun, Songshan Li, Xiaoyan Di |
Mutations in AGBL5 associated with Retinitis pigmentosa. Ophthalmic genetics 2023 12 1-6. Diego I Paredes, Nicholas R Bello, Jenina E Capasso, Rebecca Procopio, Alex V Lev |
Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients. Scientific reports 2023 11 13 (1): 20239. Dong Woo Nam, Yong Keun Song, Jeong Hun Kim, Eun Kyoung Lee, Kyu Hyung Park, JuHyuen Cha, Byung Yoon Choi, Jun Ho Lee, Seung Ha Oh, Dong Hyun Jo, Sang-Yeon L |
Whole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2023 11 . Richul Oh, Se Joon Woo, Kwangsic J |
IMPG2-related maculopathy. American journal of ophthalmology 2023 10 . Johannes Birtel, Richard Caswell, Samantha R De Silva, Philipp Herrmann, Salwah Rehman, Andrew J Lotery, Omar A Mahroo, Michel Michaelides, Andrew R Webster, Robert E MacLaren, Peter Charbel Is |
Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic. Current eye research 2024 4 1-9. Junwen Wang, Yingwei Wang, Yi Jiang, Shiqiang Li, Xiaoyun Jia, Xueshan Xiao, Wenmin Sun, Panfeng Wang, Qingjiong Zha |
Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa. Ophthalmic genetics 2024 1 1-6. Jianfu Zhuang, Rongcai Zhang, Biting Zhou, Zongfu Cao, Jie Zhou, Xiaole Chen, Nanwen Zhang, Yihua Zhu, Juhua Ya |
Whole genome sequencing enables new genetic diagnosis for inherited retinal diseases by identifying pathogenic variants. NPJ genomic medicine 2024 1 9 (1): 6. Xubing Liu, Fangyuan Hu, Daowei Zhang, Zhe Li, Jianquan He, Shenghai Zhang, Zhenguo Wang, Yingke Zhao, Jiawen Wu, Chen Liu, Chenchen Li, Xin Li, Jihong |
Compound heterozygous WDR19 variants associated with nephronophthisis, Caroli disease, refractory epilepsy and congenital bilateral central blindness: Case report. Heliyon 2024 1 10 (1): e23257. Xianglian Tang, Sheng Yi, Zailong Qin, Shang Yi, Junjie Chen, Qi Yang, Shanshan Li, Jingsi L |
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- Page last updated:Apr 22, 2024
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