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science & technology (45) 45
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1. Full Text Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions
by Kumaran, Neruban and Moore, Anthony T and Weleber, Richard G and Michaelides, Michel
British journal of ophthalmology, ISSN 0007-1161, 09/2017, Volume 101, Issue 9, pp. 1147 - 1154
early onset severe retinal dystrophy | (MeSH terms): retinal diseases | review | rtinal rod photoreceptor cells | eosrd | gene therapy | retinal cone photoreceptor cells | lca | secord | severe early childhood onset retinal dystrophy | leber congenital amaurosis | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Genetic Therapy | Molecular Biology | Humans | Drug Therapy | Eye Diseases, Hereditary - diagnosis | Genotype | Leber Congenital Amaurosis - genetics | Eye Diseases, Hereditary - genetics | Retinal Dystrophies - diagnosis | Animals | Retinal Dystrophies - therapy | Eye Diseases, Hereditary - therapy | Leber Congenital Amaurosis - diagnosis | Eye Proteins - genetics | Mutation | Leber Congenital Amaurosis - therapy | Retinal Dystrophies - genetics | Retinal degeneration | Physiology, Pathological | Care and treatment | Usage | Genetic aspects | Congenital diseases | Dehydrogenases | Transplants & implants | Disease | Retina | Biosynthesis | Macular degeneration | Morphogenesis | Proteins | Genotype & phenotype | Visual impairment | Stem cells | Photoreceptors | Gene therapy | Index Medicus | Review | 1506
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2. Full Text Phenotypic features of CRB1-associated early-onset severe retinal dystrophy and the different molecular approaches to identifying the disease-causing variants
by Kousal, Bohdan and Dudakova, Lubica and Gaillyova, Renata and Hejtmankova, Michaela and Diblik, Pavel and Michaelides, Michel and Liskova, Petra
Graefe's archive for clinical and experimental ophthalmology, ISSN 0721-832X, 9/2016, Volume 254, Issue 9, pp. 1833 - 1839
CRB1 | Ophthalmology | Medicine & Public Health | Optical coherence tomography | Early-onset retinal dystrophy | Whole-exome sequencing | Life Sciences & Biomedicine | Science & Technology | Retinal Dystrophies - metabolism | Retina - metabolism | Humans | Eye Diseases, Hereditary - diagnosis | Male | Young Adult | DNA Mutational Analysis | Adult | Female | Membrane Proteins - metabolism | Eye Proteins - genetics | Child | Electroretinography | Membrane Proteins - genetics | Retina - physiopathology | Genotype | Nerve Tissue Proteins - genetics | Eye Diseases, Hereditary - genetics | Nerve Tissue Proteins - metabolism | Homozygote | Retina - diagnostic imaging | Retinal Dystrophies - diagnosis | Phenotype | Eye Proteins - metabolism | Pedigree | Adolescent | Mutation | Retinal Dystrophies - genetics | Eye Diseases, Hereditary - metabolism | Retinal degeneration | Nucleotide sequencing | DNA sequencing | Index Medicus
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3. Full Text Molecular screening of 43 brazilian families diagnosed with leber congenital amaurosis or early-onset severe retinal dystrophy
by Porto, Fernanda B. O and Jones, Evan M and Branch, Justin and Soens, Zachry T and Maia, Igor Mendes and Sena, Isadora F. G and Sampaio, Shirley A. M and Simões, Renata T and Chen, Rui
Genes, ISSN 2073-4425, 12/2017, Volume 8, Issue 12, p. 355
Genetics | Leber congenital amaurosis | Retina | Next-generation sequencing | Ophthalmology | Early-onset retinal dystrophy | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Congenital diseases | Blindness | Retinal degeneration | Children | Diagnosis | Mutation | Age | ophthalmology | early-onset retinal dystrophy | genetics | retina | next-generation sequencing
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4. Full Text Regressive retinal flecks in CRX-mutated early-onset retinal dystrophy
by Cicinelli, Maria Vittoria and Manitto, Maria Pia and Parodi, Maurizio Battaglia and Bandello, Francesco
Optometry and vision science, ISSN 1040-5488, 10/2016, Volume 93, Issue 10, pp. 1315 - 1318
CRX | cone-rod dystrophy | early-onset retinal dystrophy | genetics | Life Sciences & Biomedicine | Ophthalmology | Science & Technology
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5. Full Text Clinical and genetic evaluation of a cohort of pediatric patients with severe inherited retinal dystrophies
by Di Iorio, Valentina and Karali, Marianthi and Brunetti-Pierri, Raffaella and Filippelli, Mariaelena and Di Fruscio, Giuseppina and Pizzo, Mariateresa and Mutarelli, Margherita and Nigro, Vincenzo and Testa, Francesco and Banfi, Sandro and Simonelli, Francesca
Genes, ISSN 2073-4425, 10/2017, Volume 8, Issue 10, p. 280
Inherited retinal dystrophies | Ellipsoid zone | Retinitis pigmentosa | Leber congenital amaurosis | Genotype-phenotype correlation | Early onset | Achromatopsia | Next generation sequencing | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Pediatrics | Genes | Acetylcholine receptors | Blindness | Retinal degeneration | Retina | Retinitis | Mutation | Gene therapy | Genotypes | inherited retinal dystrophies | early onset | next generation sequencing | genotype-phenotype correlation | retinitis pigmentosa | achromatopsia | ellipsoid zone
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6. Full Text Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing
by Barny, Iris and Perrault, Isabelle and Rio, Marlène and Dollfus, Hélène and Defoort-Dhellemmes, Sabine and Kaplan, Josseline and Rozet, Jean-Michel and Gerard, Xavier
12/2019, Advances in Experimental Medicine and Biology, ISBN 3030273776, Volume 1185
Early-onset severe retinal dystrophy | Basal exon skipping | Splicing modulation | Mild retinal dystrophy | Spontaneous exon skipping | Leber congenital amaurosis | CEP290 | Hypomorphic variant | Antigens, Neoplasm - genetics | Retinal Diseases - genetics | RNA Splicing | Cytoskeletal Proteins - genetics | Exons | Humans | Cell Cycle Proteins - genetics | Codon, Nonsense | Mutation | Siblings
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7. Full Text High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population
by Corton, Marta and Tatu, Sorina D and Avila-Fernandez, Almudena and Vallespín, Elena and Tapias, Ignacio and Cantalapiedra, Diego and Blanco-Kelly, Fiona and Riveiro-Alvarez, Rosa and Bernal, Sara and García-Sandoval, Blanca and Baiget, Montserrat and Ayuso, Carmen
Orphanet journal of rare diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 20 - 20
CRB1 | High resolution melting | Leber congenital amaurosis | Homozygosity mapping | Early-onset retinitis pigmentosa | Genetics & Heredity | Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Electroretinography | Membrane Proteins - genetics | Humans | Chromatography, High Pressure Liquid | Nerve Tissue Proteins - genetics | Retinal Dystrophies - physiopathology | Retinal Dystrophies - epidemiology | Spain - epidemiology | Eye Proteins - genetics | Mutation | Population Surveillance | Retinal Dystrophies - genetics | Cohort Studies | Medicine, Experimental | Medical research | Genetic disorders | Nucleotide sequencing | Gene mutations | DNA sequencing | Proteins | Automation | Insects | Genetics | Population | Defects | Index Medicus
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8. Full Text Novel C8orf37 Mutations in Patients with Early-onset Retinal Dystrophy, Macular Atrophy, Cataracts, and High Myopia
by Katagiri, Satoshi and Hayashi, Takaaki and Yoshitake, Kazutoshi and Akahori, Masakazu and Ikeo, Kazuho and Gekka, Tamaki and Tsuneoka, Hiroshi and Iwata, Takeshi
Ophthalmic genetics, ISSN 1381-6810, 01/2016, Volume 37, Issue 1, pp. 68 - 75
C8orf37 | mutation | early-onset retinal dystrophy | whole-exome sequencing | Genetics & Heredity | Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Visual Fields - physiology | Geographic Atrophy - genetics | Geographic Atrophy - diagnosis | Humans | Molecular Sequence Data | Geographic Atrophy - physiopathology | Male | Myopia, Degenerative - genetics | DNA Mutational Analysis | Base Sequence | Adult | Female | Visual Acuity - physiology | Myopia, Degenerative - physiopathology | Fluorescein Angiography | Siblings | Electroretinography | Cataract - diagnosis | Tomography, Optical Coherence | Retinal Dystrophies - physiopathology | Proteins - genetics | Retinal Dystrophies - diagnosis | Exome - genetics | Pedigree | Cataract - genetics | Mutation | Cataract - physiopathology | Retinal Dystrophies - genetics | Myopia, Degenerative - diagnosis | Index Medicus
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9. Full Text Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients
by Sallum, Juliana Maria Ferraz and Motta, Fabiana Louise and Arno, Gavin and Porto, Fernanda Belga Ottoni and Resende, Rosane Guazi and Belfort, Rubens
American journal of medical genetics. Part C, Seminars in medical genetics, ISSN 1552-4868, 09/2020, Volume 184, Issue 3, pp. 728 - 752
early‐onset retinal dystrophy (EORD) | genotype‐phenotype | childhood blindness | pathogenic variants | causal genes | Leber congenital amaurosis (LCA) | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Phenotypes | World population | Blindness | Retinal degeneration | Retina | Population studies | Dystrophy | Children | Index Medicus
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10. Full Text Choroidal neovascularization in an adolescent with RDH12-associated retinal degeneration
by Philip, Shawn and Xu, Xiaoyu and Laud, Ketan G and Sengillo, Jesse D and Tsang, Stephen H and Yannuzzi, Lawrence A
Ophthalmic genetics, ISSN 1381-6810, 07/2019, Volume 40, Issue 4, pp. 362 - 364
RDH12 | choroidal neovascularization | early-onset severe retinal dystrophy | Leber congenital amaurosis | CNV | EOSRD | LCA | Genetics & Heredity | Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Alcohol Oxidoreductases - genetics | Prognosis | Choroidal Neovascularization - drug therapy | Choroidal Neovascularization - pathology | Humans | Adolescent | Angiogenesis Inhibitors - therapeutic use | Choroidal Neovascularization - etiology | Male | Ranibizumab - therapeutic use | Mutation | Retinal Degeneration - complications | Index Medicus
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