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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
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
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
Journal Article
The New England journal of medicine, ISSN 0028-4793, 05/2008, Volume 358, Issue 21, pp. 2231 - 2239
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 | Retinal Degeneration - genetics | Humans | Retina - physiopathology | Blindness - pathology | Visual Acuity | Blindness - genetics | Carrier Proteins - genetics | Injections | Retinal Degeneration - therapy | Adolescent | 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 | Drug therapy | Health aspects | Index Medicus | Abridged Index Medicus
Journal Article
Journal of medical genetics, ISSN 0022-2593, 10/2013, Volume 50, Issue 10, pp. 674 - 688
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Reproducibility of Results | Humans | Retinitis Pigmentosa - genetics | Genotype | Leber Congenital Amaurosis - genetics | Retinitis Pigmentosa - diagnosis | Exome | Pedigree | Base Sequence | Sensitivity and Specificity | Alleles | Female | High-Throughput Nucleotide Sequencing | Leber Congenital Amaurosis - diagnosis | Polymorphism, Single Nucleotide | Mutation | Usage | Leber's congenital amaurosis | Diagnosis | Retinitis pigmentosa | Molecular diagnostic techniques | Index Medicus
Journal Article
Investigative ophthalmology & visual science, ISSN 0146-0404, 2015, Volume 56, Issue 6, pp. 3642 - 3655
Leber congenital amaurosis | Chinese LCA cohort | Molecular diagnosis | Next-generation sequencing | Mutation spectrum | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Humans | Child, Preschool | Infant | Male | Leber Congenital Amaurosis - genetics | Asian Continental Ancestry Group | Molecular Diagnostic Techniques | Phenotype | Pedigree | Adolescent | Adult | Female | Leber Congenital Amaurosis - diagnosis | Mutation | Child | Index Medicus | mutation spectrum | Genetics | next-generation sequencing | molecular diagnosis
Journal Article