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For: Chacon-Camacho OF, Zenteno JC. Review and update on the molecular basis of Leber congenital amaurosis. World J Clin Cases 2015; 3(2): 112-124 [PMID: 25685757 DOI: 10.12998/wjcc.v3.i2.112]
URL: https://www.wjgnet.com/2307-8960/full/v3/i2/112.htm
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Ke Xu, Yue Xie, Tengyang Sun, Xiaohui Zhang, Chunjie Chen, Yang Li. Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophyBritish Journal of Ophthalmology 2020; 104(7): 932 doi: 10.1136/bjophthalmol-2019-314281
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Anita Maasz, Kinga Hadzsiev, Reka Ripszam, Anna Zsigmond, Erika Maka, Krisztina Knezy, Balazs Lesch, Adrienn Nemeth, Judit Bene, Bence Galik, Attila Gyenesei, Bela Melegh. TUBB4B gene mutation in Leber phenotype of congenital amaurosis syndrome associated with early-onset deafnessEuropean Journal of Medical Genetics 2022; 65(4): 104471 doi: 10.1016/j.ejmg.2022.104471
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Rahel Zulliger, Shannon M. Conley, Muna I. Naash. Non-viral therapeutic approaches to ocular diseases: An overview and future directionsJournal of Controlled Release 2015; 219: 471 doi: 10.1016/j.jconrel.2015.10.007
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Brenda de Oliveira da Silva. Principais achados em um paciente com diagnóstico de Amaurose Congênita de LeberRevista Brasileira de Oftalmologia 2023; 82 doi: 10.37039/1982.8551.20230010
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Valentina Di Iorio, Marianthi Karali, Raffaella Brunetti-Pierri, Mariaelena Filippelli, Giuseppina Di Fruscio, Mariateresa Pizzo, Margherita Mutarelli, Vincenzo Nigro, Francesco Testa, Sandro Banfi, Francesca Simonelli. Clinical and Genetic Evaluation of a Cohort of Pediatric Patients with Severe Inherited Retinal DystrophiesGenes 2017; 8(10): 280 doi: 10.3390/genes8100280
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Mohamed A. Faynus, Dennis O. Clegg. Current Progress in iPSC Disease Modeling2022; : 157 doi: 10.1016/B978-0-323-85765-9.00005-9
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Eszter Vizvári, Lilla Smeller, Ágnes Jánossy, Máté Lőrincz, Márta Janáky, Edit Tóth-Molnár. Szemészeti javallat alapján végzett génterápiás kezelés RPE65 biallelikus génmutáció okozta öröklődő ideghártya-dystrophiában.Orvosi Hetilap 2022; 163(48): 1923 doi: 10.1556/650.2022.32636
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Tonya M. Schmitt, Mary Jean Ohns, Jennifer J. DeVries. Leber Congenital Amaurosis: Leading Cause of Inherited Blindness in ChildrenThe Journal for Nurse Practitioners 2023; 19(5): 104560 doi: 10.1016/j.nurpra.2023.104560
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Patrick Vancura, Erika Csicsely, Annalisa Leiser, P. Michael Iuvone, Rainer Spessert. Rhythmic Regulation of Photoreceptor and RPE Genes Important for Vision and Genetically Associated With Severe Retinal DiseasesInvestigative Opthalmology & Visual Science 2018; 59(10): 3789 doi: 10.1167/iovs.18-24558
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Oscar F. Chacón-Camacho, Leopoldo A. García-Montaño, Juan C Zenteno. The clinical implications of molecular monitoring and analyses of inherited retinal diseasesExpert Review of Molecular Diagnostics 2017; 17(11): 1009 doi: 10.1080/14737159.2017.1384314
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Budd A. Tucker, Cathryn M. Cranston, Kristin A. Anfinson, Suruchi Shrestha, Luan M. Streb, Alejandro Leon, Robert F. Mullins, Edwin M. Stone. Using patient-specific induced pluripotent stem cells to interrogate the pathogenicity of a novel retinal pigment epithelium-specific 65 kDa cryptic splice site mutation and confirm eligibility for enrollment into a clinical gene augmentation trialTranslational Research 2015; 166(6): 740 doi: 10.1016/j.trsl.2015.08.007
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Seo-Hee Cho, Ankur Nahar, Ji Hyang Kim, Matthew Lee, Zbynek Kozmik, Seonhee Kim. Targeted deletion of Crb1/Crb2 in the optic vesicle models key features of leber congenital amaurosis 8Developmental Biology 2019; 453(2): 141 doi: 10.1016/j.ydbio.2019.05.008
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Kim de Verdier, Ek Ulla, Stefan Löfgren, Elisabeth Fernell. Children with blindness – major causes, developmental outcomes and implications for habilitation and educational support: a two‐decade, Swedish population‐based studyActa Ophthalmologica 2018; 96(3): 295 doi: 10.1111/aos.13631
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Yun Li, Qing Pan, Yang-shun Gu. Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosisJournal of Zhejiang University-SCIENCE B 2017; 18(5): 421 doi: 10.1631/jzus.B1600156
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Xue Feng, Tianying Wei, Junhui Sun, Yuqin Luo, Yanan Huo, Ping Yu, Jiao Chen, Xiaoming Wei, Ming Qi, Yinghui Ye, Karl-Wilhelm Koch. The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MSPLOS ONE 2020; 15(4): e0231115 doi: 10.1371/journal.pone.0231115
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Ahmad Reza Salehi Chaleshtori, Masoud Garshasbi, Ali Salehi, Mehrdad Noruzinia. Possible dual contribution of a novel GUCY2D mutation in the development of retinal degeneration in a consanguineous populationEuropean Journal of Medical Genetics 2020; 63(3): 103750 doi: 10.1016/j.ejmg.2019.103750
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Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H. Hyman, Talia Eldar-Geva, Anat Blumenfeld. Preimplantation genetic diagnosis as a strategy to prevent having a child born with an heritable eye diseaseOphthalmic Genetics 2018; 39(4): 450 doi: 10.1080/13816810.2018.1474368
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Serena Riccitelli, Mattia Di Paolo, James Ashley, Silvia Bisti, Stefano Di Marco. The Timecourses of Functional, Morphological, and Molecular Changes Triggered by Light Exposure in Sprague–Dawley Rat RetinasCells 2021; 10(6): 1561 doi: 10.3390/cells10061561
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Nicole C. L. Noel, Ian M. MacDonald, W. Ted Allison. Zebrafish Models of Photoreceptor Dysfunction and DegenerationBiomolecules 2021; 11(1): 78 doi: 10.3390/biom11010078
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Saber Imani, Jingliang Cheng, Abdolkarim Mobasher‐Jannat, Chunli Wei, Shangyi Fu, Lisha Yang, Khosrow Jadidi, Mohammad Hossein Khosravi, Saman Mohazzab‐Torabi, Marzieh Dehghan Shasaltaneh, Yumei Li, Rui Chen, Junjiang Fu. Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencingJournal of Cellular and Molecular Medicine 2018; 22(3): 1733 doi: 10.1111/jcmm.13454
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Christine L. Xu, Galaxy Y. Cho, Jesse D. Sengillo, Karen S. Park, Vinit B. Mahajan, Stephen H. Tsang. Translation of CRISPR Genome Surgery to the Bedside for Retinal DiseasesFrontiers in Cell and Developmental Biology 2018; 6 doi: 10.3389/fcell.2018.00046
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Fernanda Porto, Evan Jones, Justin Branch, Zachry Soens, Igor Maia, Isadora Sena, Shirley Sampaio, Renata Simões, Rui Chen. Molecular Screening of 43 Brazilian Families Diagnosed with Leber Congenital Amaurosis or Early-Onset Severe Retinal DystrophyGenes 2017; 8(12): 355 doi: 10.3390/genes8120355
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Aanchal Gupta, Konstantinos N. Kafetzis, Aristides D. Tagalakis, Cynthia Yu-Wai-Man. RNA therapeutics in ophthalmology - translation to clinical trialsExperimental Eye Research 2021; 205: 108482 doi: 10.1016/j.exer.2021.108482
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Xue Du, Anna G. Butler, Holly Y. Chen. Cell-cell interaction in the pathogenesis of inherited retinal diseasesFrontiers in Cell and Developmental Biology 2024; 12 doi: 10.3389/fcell.2024.1332944
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Hiroshi Kuribayashi, Yukihiro Baba, Toshiro Iwagawa, Eisuke Arai, Akira Murakami, Sumiko Watanabe. Roles of Nmnat1 in the survival of retinal progenitors through the regulation of pro-apoptotic gene expression via histone acetylationCell Death & Disease 2018; 9(9) doi: 10.1038/s41419-018-0907-0
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Brijesh Takkar, Pooja Bansal, Pradeep Venkatesh. Leber’s Congenital Amaurosis and Gene TherapyThe Indian Journal of Pediatrics 2018; 85(3): 237 doi: 10.1007/s12098-017-2394-1
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Srilekha Sundaramurthy, Meenakshi Swaminathan, Parveen Sen, Tharigopala Arokiasamy, Swati Deshpande, Neetha John, Rupali A Gadkari, Ashraf U Mannan, Nagasamy Soumittra. Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseasesJournal of Human Genetics 2016; 61(11): 951 doi: 10.1038/jhg.2016.83
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