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1. Full Text Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration
by Hollander, A.I. den
Investigative ophthalmology & visual science, ISSN 0146-0404, 2016, Volume 57, Issue 3, pp. 1378 - 1387
Retinal degeneration | Gene therapy | Genetic diseases | Age-related macular degeneration | Retinal dystrophy | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Genetic Testing | Macular Degeneration - genetics | Humans | Genotype | Leber Congenital Amaurosis - diagnosis | Leber Congenital Amaurosis - genetics | Genomics - methods | Macular Degeneration - diagnosis | Precision Medicine - methods | Index Medicus
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2. Full Text Mutations in the CEP290 ( NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
by den Hollander, Anneke I and Koenekoop, Robert K and Yzer, Suzanne and Lopez, Irma and Arends, Maarten L and Voesenek, Krysta E.J and Zonneveld, Marijke N and Strom, Tim M and Meitinger, Thomas and Brunner, Han G and Hoyng, Carel B and van den Born, L. Ingeborgh and Rohrschneider, Klaus and Cremers, Frans P.M
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
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3. Full Text Next-generation genetic testing for retinitis pigmentosa
by Neveling, K and Collin, R.W.J and Gilissen, C.F.H.A and van Huet, R.A and Visser, L and Kwint, M.P and Gijsen, S.J and Zonneveld, M.N and Wieskamp, N and de Ligt, J and Siemiatkowska, A.M and Hoefsloot, L.H and Buckley, M.F and Kellner, U and Branham, K.E and Hollander, A.I. den and Hoischen, A and Hoyng, C and Klevering, B.J and Born, L.I. van den and Veltman, J.A and Cremers, F.P and Scheffer, H
Human mutation, ISSN 1059-7794, 2012, Volume 33, Issue 6, pp. 963 - 972
DNA diagnostics | retinitis pigmentosa | clinical molecular diagnostics | NGS | blindness | Retinitis pigmentosa | Blindness | Clinical molecular diagnostics | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Computational Biology - methods | Reproducibility of Results | Humans | Retinitis Pigmentosa - genetics | Genotype | Male | Retinitis Pigmentosa - diagnosis | Genetic Variation | Phenotype | Pedigree | Alleles | Female | Mutation | High-Throughput Nucleotide Sequencing - methods | Quality Control | Index Medicus
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4. Full Text Genotype-phenotype correlations of low-frequency variants in the complement system in renal disease and age-related macular degeneration
by Geerlings, M.J and Volokhina, E.B and Jong, E.K. de and Kar, N.C. van de and Pauper, M and Hoyng, C.B and Heuvel, L.P. van den and Hollander, A.I. den
Clinical genetics, ISSN 0009-9163, 2018, Volume 94, Issue 3-4, pp. 330 - 338
atypical hemolytic uremic syndrome | alternative pathway | age‐related macular degeneration | C3 glomerulopathy | complement system | age-related macular degeneration | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Macular Degeneration - physiopathology | Complement C3 - metabolism | Humans | Glomerulonephritis, Membranous - genetics | Complement Factor I - genetics | Genotype | Glomerulonephritis, Membranous - physiopathology | Glomerulonephritis, Membranous - metabolism | Macular Degeneration - metabolism | Phenotype | Complement Factor H - metabolism | Macular Degeneration - genetics | Atypical Hemolytic Uremic Syndrome - metabolism | Atypical Hemolytic Uremic Syndrome - physiopathology | Complement Factor H - genetics | Complement Factor I - metabolism | Atypical Hemolytic Uremic Syndrome - genetics | Complement C3 - genetics | Cohort Studies | Macular degeneration | Physiological aspects | Genetic aspects | Kidney diseases | Proteases | Analysis | Complement factor I | Complement factor H | Phenotypes | Hemolytic uremic syndrome | Gene frequency | Complement component C3 | Serine | Alleles | Serine proteinase | Genotypes | Index Medicus | Original
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5. Full Text Complement Factor H Gene Mutations: Implications for Genetic Testing and Precision Medicine in Macular Degeneration
by Hollander, A.I. den and Hoyng, C.B and Boon, C.J.F
Ophthalmology (Rochester, Minn.), ISSN 0161-6420, 2019, Volume 126, pp. 1422 - 1423
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6. Full Text Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
by Bujakowska, K.M and Zhang, Q and Siemiatkowska, A.M and Liu, Q and Place, E and Falk, M.J and Consugar, M and Lancelot, M.E and Antonio, A and Lonjou, C and Carpentier, W and Mohand-Said, S and Hollander, A.I. den and Cremers, F.P.M and Leroy, B.P and Gai, X and Sahel, J.A and Born, L.I. van den and Collin, R.W.J and Zeitz, C and Audo, I and Pierce, E.A
Human molecular genetics, ISSN 0964-6906, 2015, Volume 24, Issue 1, pp. 230 - 242
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Retina - metabolism | Humans | Cells, Cultured | Rats | Retinitis Pigmentosa - genetics | Male | Zebrafish | Sequence Analysis, DNA | Exome | Young Adult | Carrier Proteins - genetics | Animals | Pedigree | Bardet-Biedl Syndrome - pathology | Adolescent | Adult | Bardet-Biedl Syndrome - genetics | Female | High-Throughput Nucleotide Sequencing | Mutation | Retina - pathology | Retinitis Pigmentosa - pathology | Index Medicus | Life Sciences | Biochemistry, Molecular Biology | Genomics
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7. Full Text Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 ( CRB1) Gene
by Hollander, Anneke I. den and Heckenlively, John R and van den Born, L. Ingeborgh and de Kok, Yvette J.M and van der Velde-Visser, Saskia D and Kellner, Ulrich and Jurklies, Bernhard and van Schooneveld, Mary J and Blankenagel, Anita and Rohrschneider, Klaus and Wissinger, Bernd and Cruysberg, Johan R.M and Deutman, August F and Brunner, Han G and Apfelstedt-Sylla, Eckart and Hoyng, Carel B and Cremers, Frans P.M
American journal of human genetics, ISSN 0002-9297, 2001, Volume 69, Issue 1, pp. 198 - 203
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Biological and medical sciences | Medical sciences | Ophthalmology | Retinopathies | Optic Atrophies, Hereditary - genetics | Genes, Recessive - genetics | Humans | Blindness - pathology | Retinitis Pigmentosa - genetics | Genotype | Infant | Male | Optic Atrophies, Hereditary - pathology | Mutation - genetics | Blindness - genetics | Phenotype | DNA Mutational Analysis | Pedigree | Age of Onset | Adult | Female | Child | Retinitis Pigmentosa - pathology | Index Medicus | Report
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8. Full Text The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment
by Geerlings, Maartje J and de Jong, Eiko K and den Hollander, Anneke I
Molecular immunology, ISSN 0161-5890, 04/2017, Volume 84, pp. 65 - 76
Complement system | Rare genetic variants | Age-related macular degeneration | Alternative pathway | Biochemistry & Molecular Biology | Immunology | Life Sciences & Biomedicine | Science & Technology | Genetic Variation | Genetic Predisposition to Disease - genetics | Animals | Macular Degeneration - genetics | Macular Degeneration - immunology | Humans | Aging | Complement System Proteins - genetics | Macular degeneration | Genetic research | Physiological aspects | Medicine, Experimental | Medical research | Index Medicus
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9. 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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