Human Genome Epidemiology Literature Finder
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Records 1 - 30 (of 36 Records) |
| Query Trace: Disease and RPGR[original query] |
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| Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Investigative ophthalmology & visual science 2012 Nov . Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A |
| Prevalence of mutations in eyeGENE probands with a diagnosis of autosomal dominant retinitis pigmentosa. Investigative ophthalmology & visual science 2013 Sep 54 (9): 6255-61. Sullivan Lori S, Bowne Sara J, Reeves Melissa J, Blain Delphine, Goetz Kerry, Ndifor Vida, Vitez Sally, Wang Xinjing, Tumminia Santa J, Daiger Stephen |
| Exome sequencing reveals novel and recurrent mutations with clinical significance in inherited retinal dystrophies. PloS one 2014 12 9 (12): e116176. González-del Pozo María, Méndez-Vidal Cristina, Bravo-Gil Nereida, Vela-Boza Alicia, Dopazo Joaquin, Borrego Salud, Antiñolo Guiller |
| Syndromic and non-syndromic forms of retinitis pigmentosa: a comprehensive Italian clinical and molecular study reveals new mutations. Genetics and molecular research : GMR 2014 13 (4): 8815-33. Pierrottet C O, Zuntini M, Digiuni M, Bazzanella I, Ferri P, Paderni R, Rossetti L M, Cecchin S, Orzalesi N, Bertelli |
| Targeted Next-Generation Sequencing Improves the Diagnosis of Autosomal Dominant Retinitis Pigmentosa in Spanish Patients. Investigative ophthalmology & visual science 2015 Apr 56 (4): 2173-82. Fernandez-San Jose Patricia, Corton Marta, Blanco-Kelly Fiona, Avila-Fernandez Almudena, Lopez-Martinez Miguel Angel, Sanchez-Navarro Iker, Sanchez-Alcudia Rocio, Perez-Carro Raquel, Zurita Olga, Sanchez-Bolivar Noelia, Lopez-Molina Maria Isabel, Garcia-Sandoval Blanca, Riveiro-Alvarez Rosa, Ayuso Carm |
| Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration. Mammalian genome : official journal of the International Mammalian Genome Society 2016 Mar . Forman Oliver P, Hitti Rebekkah J, Boursnell Mike, Miyadera Keiko, Sargan David, Mellersh Cathr |
| Novel variants of RPGR in X-linked retinitis pigmentosa families and genotype-phenotype correlation. European journal of ophthalmology 2016 Oct 0. Parmeggiani Francesco, Barbaro Vanessa, Migliorati Angelo, Raffa Paolo, Nespeca Patrizia, De Nadai Katia, Del Vecchio Claudia, Palù Giorgio, Parolin Cristina, Di Iorio En |
| High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis Pigmentosa. Investigative ophthalmology & visual science 2017 9 58 (11): 4457-4466. Bellingrath Julia-Sophia, Ochakovski G Alex, Seitz Immanuel P, Kohl Susanne, Zrenner Eberhart, Hanig Nicola, Prokisch Holger, Weber Bernhard H, Downes Susan M, Ramsden Simon, MacLaren Robert E, Fischer M Domin |
| Exome sequencing study of 20 patients with high myopia. PeerJ 2018 9 6 e5552. Wan Ling, Deng Boling, Wu Zhengzheng, Chen Xiaomi |
| Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study. Genes 2018 7 9 (7): . Wang Likun, Zhang Jinlu, Chen Ningning, Wang Lei, Zhang Fengsheng, Ma Zhizhong, Li Genlin, Yang Lipi |
| Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa. PloS one 2018 12 13 (12): e0207958. Birtel Johannes, Gliem Martin, Mangold Elisabeth, Müller Philipp L, Holz Frank G, Neuhaus Christine, Lenzner Steffen, Zahnleiter Diana, Betz Christian, Eisenberger Tobias, Bolz Hanno J, Charbel Issa Pet |
| Relative frequency of inherited retinal dystrophies in Brazil. Scientific reports 2018 Oct 8 (1): 15939. Motta Fabiana Louise, Martin Renan Paulo, Filippelli-Silva Rafael, Salles Mariana Vallim, Sallum Juliana Maria Ferr |
| Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy. The British journal of ophthalmology 2019 10 104 (7): 932-937. Xu Ke, Xie Yue, Sun Tengyang, Zhang Xiaohui, Chen Chunjie, Li Ya |
| Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations. Genetics in medicine : official journal of the American College of Medical Genetics 2020 2 22 (6): 1079-1087. Zampaglione Erin, Kinde Benyam, Place Emily M, Navarro-Gomez Daniel, Maher Matthew, Jamshidi Farzad, Nassiri Sherwin, Mazzone J Alex, Finn Caitlin, Schlegel Dana, Comander Jason, Pierce Eric A, Bujakowska Kinga |
| Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results. Orphanet journal of rare diseases 2020 2 15 (1): 32. Cho Ahra, Lima de Carvalho Jose Ronaldo, Tanaka Akemi J, Jauregui Ruben, Levi Sarah R, Bassuk Alexander G, Mahajan Vinit B, Tsang Stephen |
| Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations. Investigative ophthalmology & visual science 2020 12 61 (14): 36. Di Iorio Valentina, Karali Marianthi, Melillo Paolo, Testa Francesco, Brunetti-Pierri Raffaella, Musacchia Francesco, Condroyer Christel, Neidhardt John, Audo Isabelle, Zeitz Christina, Banfi Sandro, Simonelli Frances |
| Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan. NPJ genomic medicine 2021 2 6 (1): 16. Chen Ta-Ching, Huang Ding-Siang, Lin Chao-Wen, Yang Chang-Hao, Yang Chung-May, Wang Victoria Y, Lin Jou-Wei, Luo Allen Chilun, Hu Fung-Rong, Chen Pei-Lu |
| Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa. Frontiers in cell and developmental biology 2021 2 8 629994. Xiao Ting, Xie Yue, Zhang Xin, Xu Ke, Zhang Xiaohui, Jin Zi-Bing, Li Ya |
| Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease. International journal of molecular sciences 2022 7 23 (13): . Nassisi Marco, De Bartolo Giuseppe, Mohand-Said Saddek, Condroyer Christel, Antonio Aline, Lancelot Marie-Elise, Bujakowska Kinga, Smirnov Vasily, Pugliese Thomas, Neidhardt John, Sahel José-Alain, Zeitz Christina, Audo Isabel |
| Genetics of Inherited Retinal Diseases in Understudied Ethnic Groups in Italian Hospitals. Frontiers in genetics 2022 7 13 914345. Maltese Paolo Enrico, Colombo Leonardo, Martella Salvatore, Rossetti Luca, El Shamieh Said, Sinibaldi Lorenzo, Passarelli Chiara, Coppè Andrea Maria, Buzzonetti Luca, Falsini Benedetto, Chiurazzi Pietro, Placidi Giorgio, Tanzi Benedetta, Bertelli Matteo, Iarossi Giancar |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype. Genes 2023 10 14 (10): . Katarzyna Nowomiejska, Katarzyna Baltaziak, Paulina Ca?ka, Marzanna Ciesielka, Grzegorz Teresi?ski, Robert Rejd |
| 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 |
| Retinal Pigment Epithelium and Outer Retinal Atrophy (RORA) in Retinitis Pigmentosa: Functional, Structural, and Genetic Evaluation. Translational vision science & technology 2024 8 13 (8): 44. Maria Cristina Savastano, Giorgio Placidi, Claudia Fossataro, Federico Giannuzzi, Nicola Claudio D'Onofrio, Lorenzo Hu, Valentina Cestrone, Elena D'Agostino, Ilaria Biagini, Ludovica Paris, Giorgia Coppa, Clara Rizzo, Raphael Kilian, Pietro Chiurazzi, Matteo Bertelli, Paolo Enrico Maltese, Benedetto Falsini, Stanislao Riz |
| Relationship between genotype, phenotype, and refractive status in patients of inherited retinal degeneration. Eye (London, England) 2024 8 . Wan-Chen Tsai, Yao-Lin Liu, Tzu-Hsun Tsai, Ying-Ju Lai, Chang-Hao Yang, Chung-May Yang, Tzyy-Chang Ho, Chang-Ping Lin, Yi-Ting Hsieh, Po-Ting Yeh, Chao-Wen Lin, Tso-Ting Lai, Pei-Lung Chen, Ta-Ching Ch |
| Simultaneous Detection of Common Founder Mutations Using a Cost-Effective Deep Sequencing Panel. Genes 2024 5 15 (5): . Sapir Shalom, Mor Hanany, Avital Eilat, Itay Chowers, Tamar Ben-Yosef, Samer Khateb, Eyal Banin, Dror Shar |
- Page last reviewed:Feb 1, 2024
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