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The New England journal of medicine, ISSN 0028-4793, 05/2015, Volume 372, Issue 20, pp. 1887 - 1897
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Genetic Therapy | Genetic Vectors - administration & dosage | DNA, Complementary - administration & dosage | Humans | Leber Congenital Amaurosis - genetics | Dependovirus | Disease Progression | Retina - physiology | Young Adult | Animals | cis-trans-Isomerases - genetics | Vision, Ocular | Adolescent | Dogs | Photoreceptor Cells, Vertebrate | Mutation | Child | Leber Congenital Amaurosis - therapy | Disease Models, Animal | Treatment outcome | Usage | Care and treatment | Safety and security measures | Analysis | Leber's congenital amaurosis | Gene therapy | Risk factors | Vision | Blindness | Retinal degeneration | Retina | Children | Eyes & eyesight | Deoxyribonucleic acid--DNA | Visual perception | Acuity | Children & youth | Electroretinograms | Index Medicus | Abridged Index Medicus
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Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
American journal of human genetics, ISSN 0002-9297, 2006, Volume 79, Issue 3, pp. 556 - 561
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | General aspects. Genetic counseling | Biological and medical sciences | Medical sciences | Ophthalmology | Retinopathies | Medical genetics | Antigens, Neoplasm - genetics | Alternative Splicing | RNA Splice Sites - genetics | Humans | Exons - genetics | Optic Atrophy, Hereditary, Leber - genetics | Homozygote | Optic Atrophy, Hereditary, Leber - pathology | Pedigree | Alleles | Consanguinity | Mutation | Neoplasm Proteins - genetics | Chromosomes, Human, Pair 12 - genetics | Gene mutations | Centrosomes | Causes of | Genetic aspects | Leber's congenital amaurosis | Research | Health aspects | Risk factors | Congenital diseases | Genetic disorders | Genes | Blindness | Children & youth | Index Medicus | Report
Journal Article
The Lancet (British edition), ISSN 0140-6736, 2009, Volume 374, Issue 9701, pp. 1597 - 1605
Internal Medicine | Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Ophthalmology | Retinopathies | Dependovirus - genetics | Nystagmus, Physiologic | Age Factors | Humans | Male | Optic Atrophy, Hereditary, Leber - genetics | Genetic Vectors - therapeutic use | Dark Adaptation | Dose-Response Relationship, Drug | Young Adult | Adult | Female | Blindness - congenital | Eye Proteins - genetics | Optic Atrophy, Hereditary, Leber - diagnosis | Safety | Child | cis-trans-Isomerases | Electroretinography | Treatment Outcome | Optic Atrophy, Hereditary, Leber - therapy | Mutation - genetics | Visual Acuity | Blindness - genetics | Disease Progression | Genetic Vectors - genetics | Carrier Proteins - genetics | Injections | Adolescent | Genetic Therapy - methods | Usage | Care and treatment | Genetic aspects | Leber's congenital amaurosis | Gene therapy | Health aspects | Studies | Eye movements | Patients | Eyes & eyesight | Light | Blindness | Index Medicus | Abridged Index Medicus
Journal Article
The New England journal of medicine, ISSN 0028-4793, 05/2008, Volume 358, Issue 21, pp. 2240 - 2248
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Ophthalmology | Retinopathies | Dependovirus - genetics | Gene Transfer Techniques | Genetic Therapy | Promoter Regions, Genetic | Retinal Degeneration - genetics | Humans | Blindness - pathology | Visual Acuity | Blindness - genetics | Carrier Proteins - genetics | Injections | Reflex, Pupillary | Retinal Degeneration - therapy | Adult | Blindness - congenital | Blindness - therapy | Eye Proteins - genetics | Mutation | Retinal Degeneration - congenital | Genetic Vectors | Retinal Degeneration - pathology | Retina - pathology | cis-trans-Isomerases | DNA, Complementary | Usage | Care and treatment | Adenoviruses | Leber's congenital amaurosis | Diagnosis | Gene therapy | Health aspects | Index Medicus | Abridged Index Medicus
Journal Article
12/2018, Advances in Experimental Medicine and Biology, ISBN 9783319950457, Volume 1085
Book Chapter
Nature genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1040 - 1045
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | Medical sciences | Ophthalmology | Retinopathies | Genetic Predisposition to Disease | Retinal Degeneration - diagnosis | Retinal Degeneration - genetics | Humans | Child, Preschool | Male | Leber Congenital Amaurosis - genetics | Case-Control Studies | Leber Congenital Amaurosis - complications | Mutation - physiology | DNA Mutational Analysis | Pedigree | Base Sequence | Nicotinamide-Nucleotide Adenylyltransferase - genetics | Family | Female | Nicotinamide-Nucleotide Adenylyltransferase - physiology | Child | Retinal Degeneration - complications | Causes of | Genetic aspects | Leber's congenital amaurosis | Gene mutations | Health aspects | Medical research | Hospitals | Mutation | Metabolic disorders | Children & youth | Index Medicus
Journal Article
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 2016, Volume 123, Issue 7, pp. 1606 - 1620
Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Electroretinography | Dependovirus - genetics | Visual Fields - physiology | Leber Congenital Amaurosis - physiopathology | Humans | Male | Retinal Degeneration - etiology | Leber Congenital Amaurosis - genetics | Young Adult | cis-trans-Isomerases - genetics | Retinal Degeneration - therapy | Quality of Life | Adult | Female | Genetic Vectors | Child | Leber Congenital Amaurosis - therapy | Visual Acuity - physiology | Injections, Intraocular | Genetic Therapy - methods | Prevention | Care and treatment | Genetic disorders | Genetic vectors | Analysis | Blindness | Retinal degeneration | Gene therapy | Index Medicus
Journal Article
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 2013, Volume 120, Issue 6, pp. 1283 - 1291
Ophthalmology | Life Sciences & Biomedicine | Science & Technology | Dependovirus - genetics | Genetic Therapy | Visual Fields - physiology | Follow-Up Studies | Leber Congenital Amaurosis - physiopathology | Tomography, Optical Coherence | Humans | Male | Leber Congenital Amaurosis - genetics | Reflex, Pupillary - physiology | Young Adult | Transfection | cis-trans-Isomerases - genetics | Adolescent | Adult | Female | Mutation | Genetic Vectors | Child | Leber Congenital Amaurosis - therapy | Visual Acuity - physiology | Injections, Intraocular | Medical colleges | Care and treatment | Genetic disorders | Blindness | Medical genetics | Index Medicus
Journal Article
Molecular therapy, ISSN 1525-0016, 03/2010, Volume 18, Issue 3, pp. 643 - 650
Genetics & Heredity | Life Sciences & Biomedicine | Biotechnology & Applied Microbiology | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Dependovirus - genetics | Retina - metabolism | Follow-Up Studies | Humans | Treatment Outcome | Leber Congenital Amaurosis - genetics | Disease Progression | Carrier Proteins - genetics | Time Factors | Vision, Ocular | Adult | Models, Genetic | Eye Proteins - genetics | Genetic Vectors | Transgenes | Leber Congenital Amaurosis - therapy | cis-trans-Isomerases | Genetic Therapy - methods | Index Medicus | Original
Journal Article
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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