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1. Full Text Leber congenital amaurosis: Genes, proteins and disease mechanisms
by den Hollander, Anneke I and Roepman, Ronald and Koenekoop, Robert K and Cremers, Frans P.M
Progress in retinal and eye research, ISSN 1350-9462, 07/2008, Volume 27, Issue 4, pp. 391 - 419
Leber congenital amaurosis | Photoreceptors | Retina | Animal models | Connecting cilium | Visual cycle | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Animals | Retinal Degeneration - genetics | Vision, Ocular | Blindness - physiopathology | Genes | Humans | Eye Proteins - genetics | Retinal Degeneration - physiopathology | Blindness - genetics | Disease Models, Animal | Genetic research | Genetic disorders | Analysis | Human genetics | Index Medicus
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2. Full Text Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
by MacLaren, Robert E, Prof and Groppe, Markus, PhD and Barnard, Alun R, PhD and Cottriall, Charles L, PhD and Tolmachova, Tanya, PhD and Seymour, Len, Prof and Clark, K Reed, PhD and During, Matthew J, Prof and Cremers, Frans P M, Prof and Black, Graeme C M, Prof and Lotery, Andrew J, Prof and Downes, Susan M, FRCOphth and Webster, Andrew R, Prof and Seabra, Miguel C, Prof
The Lancet (British edition), ISSN 0140-6736, 2014, Volume 383, Issue 9923, pp. 1129 - 1137
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Ophthalmology | Retinopathies | Choroideremia - physiopathology | Gene Transfer Techniques | Genetic Vectors - administration & dosage | Retinal Detachment - therapy | Humans | Middle Aged | Transgenes - genetics | Fluorescence | Male | Adaptor Proteins, Signal Transducing - genetics | Retinal Detachment - physiopathology | Adenoviridae - genetics | Adult | Aged | Choroideremia - therapy | Visual Acuity - physiology | Injections, Intraocular | Adaptor Proteins, Signal Transducing - administration & dosage | Genetic Therapy - methods | Care and treatment | Gene therapy | Patient outcomes | Choroideremia | Methods | Macular degeneration | Aging | Retina | Index Medicus | Abridged Index Medicus
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3. Full Text Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease
by Albert, Silvia and Garanto, Alejandro and Sangermano, Riccardo and Khan, Mubeen and Bax, Nathalie M and Hoyng, Carel B and Zernant, Jana and Lee, Winston and Allikmets, Rando and Collin, Rob W.J and Cremers, Frans P.M
American journal of human genetics, ISSN 0002-9297, 04/2018, Volume 102, Issue 4, pp. 517 - 527
splicing modulation | nonsense-mediated decay | photoreceptor precursor cells | antisense oligonucleotide | ABCA4 | induced pluripotent stem cells | Stargardt disease | deep-intronic mutation | exonic splicing enhancer | pseudoexon | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Introns - genetics | Oligonucleotides, Antisense - pharmacology | RNA Splice Sites - genetics | Humans | Photoreceptor Cells, Vertebrate - drug effects | RNA, Messenger - genetics | Exons - genetics | Mutation - genetics | RNA, Messenger - metabolism | Macular Degeneration - congenital | ATP-Binding Cassette Transporters - genetics | Macular Degeneration - genetics | Base Sequence | Computer Simulation | Alleles | Photoreceptor Cells, Vertebrate - metabolism | Genetic aspects | RNA | Genomics | Stem cells | Index Medicus
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4. Full Text Lighting a candle in the dark: advances in genetics and gene therapy of recessive retinal dystrophies
by Hollander, A.I. den and Black, A and Bennett, J and Cremers, F.P.M
The Journal of clinical investigation, ISSN 0021-9738, 2010, Volume 120, Issue 9, pp. 3042 - 3053
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Eye - pathology | Retinal Diseases - genetics | Retina - metabolism | Genetic Testing | Genes | Humans | Retinal Diseases - therapy | Retinal Diseases - metabolism | Lighting | Eye Proteins - genetics | Transgenes | cis-trans-Isomerases | Disease Models, Animal | Gene Transfer Techniques | Cats | Eye - anatomy & histology | Genes, Recessive | Retinaldehyde - genetics | Mice, Knockout | Carrier Proteins - genetics | Animals | Dogs | Mice | Mutation | Genetic Therapy - methods | Care and treatment | Gene mutations | Retinal degeneration | Genetic aspects | Research | Gene therapy | Health aspects | Index Medicus | Abridged Index Medicus | Review
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5. Full Text Foveal Sparing in Central Retinal Dystrophies
by Bax, N.M and Valkenburg, D and Lambertus, S and Klevering, B.J and Boon, C.J.F and Holz, Frank G and Cremers, F.P.M and Hoyng, C.B and Lindner, Moritz
Investigative ophthalmology & visual science, ISSN 0146-0404, 2019, Volume 60, pp. 3456 - 3467
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6. Full Text Causes and consequences of inherited cone disorders
by Roosing, Susanne and Thiadens, Alberta A.H.J and Hoyng, Carel B and Klaver, Caroline C.W and den Hollander, Anneke I and Cremers, Frans P.M
Progress in retinal and eye research, ISSN 1350-9462, 09/2014, Volume 42, pp. 1 - 26
Animal model | Therapy | Retina | Photoreceptors | Cone disorder | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Animals | Color Vision Defects - congenital | Retinal Degeneration - genetics | Humans | Retinal Cone Photoreceptor Cells - physiology | Eye Proteins - genetics | Mutation | Retinal Degeneration - congenital | Color Vision Defects - genetics | Disease Models, Animal | Proteins | Genetic aspects | Nucleotide sequencing | Analysis | DNA sequencing | Index Medicus
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