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ArticlesPeer ReviewedFull Text
Cone rod dystrophies
Author / Creator:Hamel, Christian P
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2007-02, Vol.2 (1), p.7-7, Article 7
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Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy
Author / Creator:Gill, Jasdeep S ; Georgiou, Michalis ; Kalitzeos, Angelos ; Moore, Anthony T ; Michaelides, Michel
Publisher:BMA House, Tavistock Square, London, WC1H 9JR: BMJ Publishing Group Ltd
Journal title:British journal of ophthalmology, 2019-05, Vol.103 (5), p.711-720
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Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease
Author / Creator: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, Isabelle
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-06, Vol.23 (13), p.7189
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Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies
Author / Creator:Boulanger-Scemama, Elise ; Mohand-Saïd, Saddek ; El Shamieh, Said ; Démontant, Vanessa ; Condroyer, Christel ; Antonio, Aline ; Michiels, Christelle ; Boyard, Fiona ; Saraiva, Jean-Paul ; Letexier, Mélanie ; Sahel, José-Alain ; Zeitz, Christina ; Audo, Isabelle
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2019-09, Vol.20 (19), p.4854
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Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort
Author / Creator:López-Rodríguez, Víctor R. ; Arce-González, Rocío ; Martínez-Aguilar, Alan ; Rodríguez-López, Carlos E. ; Groman-Lupa, Sergio ; Neria-González, M. Isabel ; Rodríguez-Uribe, Genaro ; Zenteno, Juan C.
Publisher:United States: Hindawi
Journal title:Journal of ophthalmology, 2024, Vol.2024, p.1-10
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GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone–rod dystrophies
Author / Creator:Jiang, Feng ; Xu, Ke ; Zhang, Xiaohui ; Xie, Yue ; Bai, Fengge ; Li, Yang
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Documenta ophthalmologica, 2015-10, Vol.131 (2), p.105-114
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Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites
Author / Creator:Wang, Wei-Chieh ; Huang, Chu-Hsuan ; Chung, Hsin-Hsiang ; Chen, Pei-Lung ; Hu, Fung-Rong ; Yang, Chang-Hao ; Yang, Chung-May ; Lin, Chao-Wen ; Hsu, Cheng-Chih ; Chen, Ta-Ching
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2024-04, Vol.15 (1), p.3562-10, Article 3562
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Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy
Author / Creator:Kim, Dong Ju ; Woo, Se Joon ; Joo, Kwangsic
Publisher:Basel, Switzerland
Journal title:Ophthalmic research, 2024-01, Vol.67 (1), p.9-22
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Genetic testing for cone rod dystrophies
Author / Creator:Abeshi, Andi ; Zulian, Alessandra ; Beccari, Tommaso ; Dundar, Munis ; Ziccardi, Lucia ; Bertelli, Matteo
Publisher:Kayseri: De Gruyter Poland
Journal title:The eurobiotech journal, 2017-10, Vol.1 (s1), p.35-37
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PRCD is essential for high-fidelity photoreceptor disc formation
Author / Creator:Spencer, William J. ; Ding, Jin-Dong ; Lewis, Tylor R. ; Yu, Chen ; Phan, Sebastien ; Pearring, Jillian N. ; Kim, Keun-Young ; Thor, Andrea ; Mathew, Rose ; Kalnitsky, Joan ; Hao, Ying ; Travis, Amanda M. ; Biswas, Sondip K. ; Lo, Woo-Kuen ; Besharse, Joseph C. ; Ellisman, Mark H. ; Saban, Daniel R. ; Burns, Marie E. ; Arshavsky, Vadim Y.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2019-06, Vol.116 (26), p.13087-13096
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Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies
Author / Creator:Mizobuchi, Kei ; Hayashi, Takaaki ; Katagiri, Satoshi ; Yoshitake, Kazutoshi ; Fujinami, Kaoru ; Yang, Lizhu ; Kuniyoshi, Kazuki ; Shinoda, Kei ; Machida, Shigeki ; Kondo, Mineo ; Ueno, Shinji ; Terasaki, Hiroko ; Matsuura, Tomokazu ; Tsunoda, Kazushige ; Iwata, Takeshi ; Nakano, Tadashi
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2019-11, Vol.9 (1), p.16851-9, Article 16851
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ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies
Author / Creator:Kitiratschky, Veronique B D ; Grau, Tanja ; Bernd, Antje ; Zrenner, Eberhart ; Jägle, Herbert ; Renner, Agnes B ; Kellner, Ulrich ; Rudolph, Günther ; Jacobson, Samuel G ; Cideciyan, Artur V ; Schaich, Simone ; Kohl, Susanne ; Wissinger, Bernd
Publisher:Cham: Springer International Publishing
Journal title:European journal of human genetics : EJHG, 2008-07, Vol.16 (7), p.812-819
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Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy
Author / Creator:Lu, Zhaojing ; Hu, Xuebin ; Liu, Fei ; Soares, Dinesh C. ; Liu, Xiliang ; Yu, Shanshan ; Gao, Meng ; Han, Shanshan ; Qin, Yayun ; Li, Chang ; Jiang, Tao ; Luo, Daji ; Guo, An-Yuan ; Tang, Zhaohui ; Liu, Mugen
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2017-04, Vol.7 (1), p.46098, Article 46098
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A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss
Author / Creator:Scarpato, Margherita ; Testa, Francesco ; Nesti, Anna ; Zeuli, Roberta ; Boccia, Rosa ; Auletta, Gennaro ; Banfi, Sandro ; Simonelli, Francesca ; Karali, Marianthi
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2025-02, Vol.13 (2), p.e70068-n/a
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Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families
Author / Creator:Iarossi, Giancarlo ; Marino, Valerio ; Maltese, Paolo Enrico ; Colombo, Leonardo ; D’Esposito, Fabiana ; Manara, Elena ; Dhuli, Kristjana ; Modarelli, Antonio Mattia ; Cennamo, Gilda ; Magli, Adriano ; Dell’Orco, Daniele ; Bertelli, Matteo
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2020-12, Vol.22 (1), p.381
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PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation
Author / Creator:Corral-Serrano, Julio C. ; Lamers, Ideke J. C. ; van Reeuwijk, Jeroen ; Duijkers, Lonneke ; Hoogendoorn, Anita D. M. ; Yildirim, Adem ; Argyrou, Nikoleta ; Ruigrok, Renate A. A. ; Letteboer, Stef J. F. ; Butcher, Rossano ; van Essen, Max D. ; Sakami, Sanae ; van Beersum, Sylvia E. C. ; Palczewski, Krzysztof ; Cheetham, Michael E. ; Liu, Qin ; Boldt, Karsten ; Wolfrum, Uwe ; Ueffing, Marius ; Garanto, Alejandro ; Roepman, Ronald ; Collin, Rob W. J.
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2020-05, Vol.117 (18), p.9922-9931
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Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging
Author / Creator:Song, Hongxin ; Rossi, Ethan A ; Stone, Edwin ; Latchney, Lisa ; Williams, David ; Dubra, Alfredo ; Chung, Mina
Publisher:England: BMJ Publishing Group LTD
Journal title:British journal of ophthalmology, 2018-01, Vol.102 (1), p.136-141
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Atp1b2 Atp1b1 Knock-In Mice Exhibit a Cone-Rod Dystrophy-Like Phenotype
Author / Creator:Bartsch, Susanne ; Atiskova, Yevgeniya ; Schlichting, Stefanie ; Becker, Elke ; Herrmann, Maike ; Bartsch, Udo
Publisher:Switzerland
Journal title:Cells (Basel, Switzerland), 2025-06, Vol.14 (12)
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Mizuo-Nakamura phenomenon in cone-rod dystrophy
Author / Creator:Kumar, Vinod ; Goel, Neha ; Bhaskaran, Ullattil K ; Garg, Itika
Publisher:Melbourne: Taylor & Francis
Journal title:Clinical and experimental optometry, 2017-07, Vol.100 (4), p.388-391
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Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy
Author / Creator:Hayashi Takaaki ; Hosono Katsuhiro ; Kurata Kentaro ; Katagiri Satoshi ; Mizobuchi Kei ; Ueno Shinji ; Kondo Mineo ; Nakano Tadashi ; Hotta Yoshihiro
Publisher:Dordrecht: Springer Nature B.V
Journal title:Documenta ophthalmologica, 2020-04, Vol.140 (2), p.147-157
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Showing 1 to 20 of 721 results

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Cone rod dystrophies

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Progressive cone and cone-rod dystrophies: clinical features, molecular genetics and prospects for therapy

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Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

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Phenotype Analysis of Retinal Dystrophies in Light of the Underlying Genetic Defects: Application to Cone and Cone-Rod Dystrophies

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Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort

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GUCY2D mutations in a Chinese cohort with autosomal dominant cone or cone–rod dystrophies

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Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites

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Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy

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Genetic testing for cone rod dystrophies

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PRCD is essential for high-fidelity photoreceptor disc formation

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Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies

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ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies

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Ablation of EYS in zebrafish causes mislocalisation of outer segment proteins, F-actin disruption and cone-rod dystrophy

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A Novel Variant in TUBB4B Causes Progressive Cone‐Rod Dystrophy and Early Onset Sensorineural Hearing Loss

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Expanding the Clinical and Genetic Spectrum of RAB28-Related Cone-Rod Dystrophy: Pathogenicity of Novel Variants in Italian Families

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PCARE and WASF3 regulate ciliary F-actin assembly that is required for the initiation of photoreceptor outer segment disk formation

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Phenotypic diversity in autosomal-dominant cone-rod dystrophy elucidated by adaptive optics retinal imaging

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Atp1b2 Atp1b1 Knock-In Mice Exhibit a Cone-Rod Dystrophy-Like Phenotype

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Mizuo-Nakamura phenomenon in cone-rod dystrophy

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Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy

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