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1. Full Text Retinal dystrophies
: functional genomics to gene therapy
by Bock, Gregory and Chader, Gerry and Goode, Jamie and Novartis Foundation and Foundation Fighting Blindness
2004, 1. Aufl., Novartis Foundation symposium, ISBN 0470853573, Volume 255, 228
Retinal dystrophies are the major causes of incurable blindness in the Western world. Our insight into their aetiology has improved remarkably over the past... 
Retinal degeneration | Gene therapy | Congresses
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2. Full Text The complement system in age-related macular degeneration: A review of rare genetic variants and implications for personalized treatment
by Geerlings, M.J and Jong, E.K and Hollander, A.I. den
Molecular Immunology, ISSN 0161-5890, 2017, Volume 84, pp. 65 - 76
Age-related macular degeneration (AMD) is a progressive retinal disease and the major cause of irreversible vision loss in the elderly. Numerous studies have... 
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3. 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 and Visual Science, ISSN 0146-0404, 2016, Volume 57, Issue 3, pp. 1378 - 1387
The genomic revolution has had a huge impact on our understanding of the genetic defects and disease mechanisms underlying ophthalmic diseases. Two examples... 
Retinal degeneration | Gene therapy | Genetic diseases | Age-related macular degeneration | Retinal dystrophy | genetic diseases | NMNAT1 MUTATIONS | retinal dystrophy | COMMON VARIANTS | retinal degeneration | AQUEOUS-HUMOR | RECESSIVE MUTATIONS | gene therapy | MOLECULAR DIAGNOSIS | HIGH-RISK | OPHTHALMOLOGY | GENE-THERAPY | WIDE ASSOCIATION | PROTEOMIC ANALYSIS | age-related macular degeneration | RETINITIS-PIGMENTOSA | Genetic Testing | Macular Degeneration - genetics | Humans | Genotype | Leber Congenital Amaurosis - diagnosis | Leber Congenital Amaurosis - genetics | Ophthalmology | Genomics - methods | Macular Degeneration - diagnosis | Precision Medicine - methods | Index Medicus
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4. Full Text Next-generation genetic testing for retinitis pigmentosa
by Neveling, K and Collin, R.W.J and Gilissen, C and Huet, R.A. van and Visser, L and Kwint, M.P and Gijsen, S.J and Zonneveld, M.N and Wieskamp, N and Ligt, J. de 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
Molecular diagnostics for patients with retinitis pigmentosa (RP) has been hampered by extreme genetic and clinical heterogeneity, with 52 causative genes... 
DNA diagnostics | NGS | Retinitis pigmentosa | Blindness | Clinical molecular diagnostics | RETINAL DEGENERATION | MENTAL-RETARDATION | MICROARRAY | blindness | MISSENSE MUTATIONS | LEBER CONGENITAL AMAUROSIS | CONE-ROD DYSTROPHY | DNA | ABCA4 ABCR GENE | DISEASE | GENETICS & HEREDITY | retinitis pigmentosa | clinical molecular diagnostics | PROTEIN FUNCTION | 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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5. 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
The American Journal of Human Genetics, ISSN 0002-9297, 2006, Volume 79, Issue 3, pp. 556 - 561
Leber congenital amaurosis (LCA) is one of the main causes of childhood blindness. To date, mutations in eight genes have been described, which together... 
JOUBERT-SYNDROME | RECESSIVE RETINITIS-PIGMENTOSA | DYSTROPHY | CENTROSOMAL PROTEIN | GENETICS & HEREDITY | 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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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
Primary cilia are sensory organelles present on most mammalian cells. The assembly and maintenance of primary cilia are facilitated by intraflagellar transport... 
JOUBERT-SYNDROME | CILIARY | LEBER CONGENITAL AMAUROSIS | DYSTROPHY | BIOCHEMISTRY & MOLECULAR BIOLOGY | NONSYNDROMIC RETINITIS-PIGMENTOSA | IN-VIVO | GENETICS & HEREDITY | GENE ABCR | INTRAFLAGELLAR TRANSPORT PROTEIN | CENTROSOMAL PROTEIN | STATIONARY NIGHT BLINDNESS | 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 Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
by Kohl, S and Zobor, D and Chiang, W.C and Weisschuh, N and Staller, J and Menendez, I.G and Chang, S and Beck, S.C and Garrido, M. Garcia and Sothilingam, V and Seeliger, M.W and Stanzial, F and Benedicenti, F and Inzana, F and Heon, E and Vincent, A and Beis, J and Strom, T.M and Rudolph, G and Roosing, S and Hollander, A.I. den and Cremers, F.P.M and Lopez, I and Ren, H and Moore, A.T and Webster, A.R and Michaelides, M and Koenekoop, R.K and Zrenner, E and Kaufman, R.J and Tsang, S.H and Wissinger, B and Lin, J.H
Nature Genetics, ISSN 1061-4036, 2015, Volume 47, Issue 7, pp. 757 - 765
Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness, photophobia, nystagmus and severely reduced visual acuity. Using... 
LONG-TERM | RETINAL STRUCTURE | ALPHA-SUBUNIT | CONGENITAL ACHROMATOPSIA | OPTICAL COHERENCE TOMOGRAPHY | MOUSE MODEL | GENETICS & HEREDITY | GENE-THERAPY | ENDOPLASMIC-RETICULUM STRESS | TRANSCRIPTION FACTOR | TOTAL COLOURBLINDNESS | Genetic Association Studies | Humans | Mice, Inbred C57BL | Middle Aged | Male | Mutation, Missense | Unfolded Protein Response | Activating Transcription Factor 6 - genetics | Color Vision Defects - genetics | Mice, Knockout | Young Adult | Animals | Pedigree | Retinal Cone Photoreceptor Cells - pathology | Adolescent | HEK293 Cells | Aged, 80 and over | Adult | Female | Transcription, Genetic | Child | Gene mutations | Genetic susceptibility | Genetic research | Genetic aspects | Research | Color blindness | Health aspects | Risk factors | Haplotypes | Medical research | Biomedical research | Laboratories | Genes | Grants | Patients | Proteins | Hospitals | Photoreceptors | Software | Mutation | Chromosomes | Index Medicus
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8. Full Text Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused by RPE65 or LRAT mutations: an open-label phase 1b trial
by Koenekoop, Robert K, Prof and Sui, Ruifang, MD and Sallum, Juliana, MD and van den Born, L Ingeborgh, MD and Ajlan, Radwan, MBBCh and Khan, Ayesha, MD and den Hollander, Anneke I, PhD and Cremers, Frans P M, Prof and Mendola, Janine D, PhD and Bittner, Ava K, OD/PhD and Dagnelie, Gislin, PhD and Schuchard, Ronald A, PhD and Saperstein, David A, MD
Lancet, The, ISSN 0140-6736, 2014, Volume 384, Issue 9953, pp. 1513 - 1520
Summary Background Leber congenital amaurosis, caused by mutations in RPE65 and LRAT , is a severe form of inherited retinal degeneration leading to blindness.... 
Internal Medicine | ACYLTRANSFERASE | MEDICINE, GENERAL & INTERNAL | VISION | DYSTROPHY | MOUSE MODEL | IMPROVEMENT | GENE-THERAPY | VISUAL FUNCTIONS | RETINITIS-PIGMENTOSA | CYCLE | Prospective Studies | Administration, Oral | Vitamin A - analogs & derivatives | Acyltransferases - deficiency | Humans | cis-trans-Isomerases - deficiency | Leber Congenital Amaurosis - genetics | Mutation - genetics | Acyltransferases - genetics | Blindness - genetics | Leber Congenital Amaurosis - drug therapy | Vitamin A - administration & dosage | Young Adult | Visual Acuity - drug effects | cis-trans-Isomerases - genetics | Adolescent | Adult | Blindness - drug therapy | Child | Index Medicus | Abridged Index Medicus
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9. Full Text A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
by Khanna, H and Davis, E.E and Murga-Zamalloa, C.A and Estrada-Cuzcano, A and Lopez, I and Hollander, A.I. den and Zonneveld-Vrieling, M.N and Othman, M.I and Waseem, N and Chakarova, C and Maubaret, C and Diaz-Font, A and Macdonald, I and Muzny, D.M and Wheeler, D.A and Morgan, M and Lewis, L.R and Logan, C.V and Tan, P.L and Beer, M.A and Inglehearn, C.F and Lewis, R.A and Jacobson, S.G and Bergmann, C and Beales, P.L and Attie-Bitach, T and Johnson, C.A and Otto, E.A and Bhattacharya, S.S and Hildebrandt, F and Gibbs, R.A and Koenekoop, R.K and Swaroop, A and Katsanis, N
Nature Genetics, ISSN 1061-4036, 2009, Volume 41, Issue 6, pp. 739 - 745
Despite rapid advances in the identification of genes involved in disease, the predictive power of the genotype remains limited, in part owing to poorly... 
JOUBERT-SYNDROME | MUTATION ANALYSIS | CILIARY | LEBER CONGENITAL AMAUROSIS | GENE | MECKEL-SYNDROME | GENETICS & HEREDITY | BARDET-BIEDL-SYNDROME | EARLY-ONSET | LINKED RETINITIS-PIGMENTOSA | CENTROSOMAL PROTEIN | Retinal Degeneration - genetics | Humans | RNA, Messenger - genetics | Europe - epidemiology | Retinitis Pigmentosa - genetics | Retinal Degeneration - prevention & control | Zebrafish - genetics | Genetic Variation | Retinitis Pigmentosa - enzymology | Animals | GTP Phosphohydrolases - metabolism | Ciliary Body - physiopathology | Retinal Degeneration - epidemiology | GTP Phosphohydrolases - genetics | Adaptor Proteins, Signal Transducing - genetics | Alleles | Uveitis - epidemiology | Bardet-Biedl Syndrome - genetics | Polymorphism, Single Nucleotide | Mutation | Uveitis - genetics | Allelomorphism | Retinal degeneration | Physiological aspects | Genetic aspects | Research | Gene mutations | Studies | Genetics | Retina | Biomedical research | Index Medicus
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10. Full Text A functional variant in the CFI gene confers a high risk of age-related macular degeneration
by Ven, J.P.H. van de and Nilsson, S.C and Tan, P.L and Buitendijk, G.H and Ristau, T and Mohlin, F.C and Nabuurs, S.B and Schoenmaker-Koller, F.E and Smailhodzic, D and Campochiaro, P.A and Zack, D.J and Duvvari, M.R and Bakker, B and Paun, C.C and Boon, C.J.F and Uitterlinden, A.G and Liakopoulos, S and Klevering, B.J and Fauser, S and Daha, M.R and Katsanis, N and Klaver, C.C and Blom, A.M and Hoyng, C.B and Hollander, A.I. den and Lund University and Protein Chemistry, Malmö and Lunds universitet and Proteinkemi, Malmö
Nature Genetics, ISSN 1061-4036, 2013, Volume 45, Issue 7, pp. 813 - 817
Up to half of the heritability of age-related macular degeneration (AMD) is explained by common variants. Here, we report the identification of a rare, highly... 
COMPLEMENT FACTOR-I | C4B-BINDING PROTEIN | HEMOLYTIC-UREMIC SYNDROME | ZEBRAFISH | ANGIOGENESIS | GENETICS & HEREDITY | TIMP3 | LOCI | MUTATIONS | PREVALENCE | VEGFA | Genetic Predisposition to Disease | Retina - metabolism | Animals, Genetically Modified | Complement Factor I - physiology | Humans | Risk Factors | Models, Molecular | Complement Factor I - genetics | Zebrafish | Retina - embryology | Mutation, Missense - physiology | Animals | Macular Degeneration - genetics | Base Sequence | Embryo, Nonmammalian | HEK293 Cells | Models, Genetic | Retina - pathology | Amino Acid Substitution | Macular Degeneration - pathology | Macular degeneration | Genetic variation | Genetic aspects | Aged | Research | Health aspects | Risk factors | Proteins | Plasma | Mutation | Index Medicus | Basic Medicine | Other Basic Medicine | Andra medicinska och farmaceutiska grundvetenskaper | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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11. Full Text Chronic Central Serous Chorioretinopathy Is Associated with Genetic Variants Implicated in Age-Related Macular Degeneration
by de Jong, Eiko K., PhD and Breukink, Myrte B., MD and Schellevis, Rosa L., MSc and Bakker, Bjorn, BSc and Mohr, Jacqueline K., MD and Fauser, Sascha, MD, PhD and Keunen, Jan E.E., MD, PhD and Hoyng, Carel B., MD, PhD and den Hollander, Anneke I., PhD and Boon, Camiel J.F., MD, PhD
Ophthalmology, ISSN 0161-6420, 2015, Volume 122, Issue 3, pp. 562 - 570
Purpose In this study, single nucleotide polymorphisms (SNPs) at 19 loci, previously associated with age-related macular degeneration (AMD), were... 
Ophthalmology | COMPLEMENT FACTOR-H | RETINAL-PIGMENT EPITHELIOPATHY | ACTIVATION | VIII COLLAGEN | SUSCEPTIBILITY | OPHTHALMOLOGY | SMOOTH-MUSCLE-CELLS | UPDATE | POLYPOIDAL CHOROIDAL VASCULOPATHY | ADRENOMEDULLIN | PATHOPHYSIOLOGY | Coloring Agents | Humans | Middle Aged | Male | Genotyping Techniques | Case-Control Studies | Macular Degeneration - diagnosis | Young Adult | Multimodal Imaging | Aged, 80 and over | Adult | Female | Fluorescein Angiography | Genetic Association Studies | Tomography, Optical Coherence | Gene Frequency | Indocyanine Green | Ophthalmoscopy | Central Serous Chorioretinopathy - genetics | Proteins - genetics | Macular Degeneration - genetics | Central Serous Chorioretinopathy - diagnosis | Aged | Polymorphism, Single Nucleotide | Complement Factor H - genetics | Chronic Disease | Macular degeneration | Genetic research | Physiological aspects | Genetic aspects | Single nucleotide polymorphisms | Chromosomes | Index Medicus
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12. Full Text Exome Sequencing and cis-Regulatory Mapping Identify Mutations in MAK, a Gene Encoding a Regulator of Ciliary Length, as a Cause of Retinitis Pigmentosa
by Özgül, Rıza Köksal and Siemiatkowska, Anna M and Yücel, Didem and Myers, Connie A and Collin, Rob W.J and Zonneveld, Marijke N and Beryozkin, Avigail and Banin, Eyal and Hoyng, Carel B and van den Born, L. Ingeborgh and Bose, Ron and Shen, Wei and Sharon, Dror and Cremers, Frans P.M and Klevering, B. Jeroen and den Hollander, Anneke I and Corbo, Joseph C and European Retinal Dis Consortium and European Retinal Disease Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 253 - 264
A fundamental challenge in analyzing exome-sequence data is distinguishing pathogenic mutations from background polymorphisms. To address this problem in the... 
RHODOPSIN GENE | CHIP-SEQ REVEALS | FLAGELLAR LENGTH | RETINAL DISEASE | TRANSCRIPTIONAL NETWORK | KINASE | MOUSE | GENETICS & HEREDITY | CRX | GENOME BROWSER DATABASE | FAMILY | Genes, Recessive - genetics | Homeodomain Proteins - metabolism | Humans | Middle Aged | Genetic Loci - genetics | Molecular Sequence Data | Male | Young Adult | Adult | Female | Transcription, Genetic | Cilia - enzymology | Protein-Serine-Threonine Kinases - metabolism | Amino Acid Sequence | Protein-Serine-Threonine Kinases - genetics | Retinitis Pigmentosa - genetics | Exons - genetics | Chromosome Mapping | Mutation - genetics | Sequence Analysis, DNA | Regulatory Sequences, Nucleic Acid - genetics | Cilia - genetics | Retinitis Pigmentosa - enzymology | Animals | Rhodopsin - genetics | Pedigree | Trans-Activators - metabolism | Mice | Protein-Serine-Threonine Kinases - chemistry | Photoreceptor Cells, Vertebrate - metabolism | Photoreceptor Cells, Vertebrate - pathology | Ciliary body | Chromosome mapping | Usage | Retinitis pigmentosa | Physiological aspects | Causes of | Genetic aspects | Nucleotide sequencing | Eye diseases | Mutation | Kinases | Genes | Rodents | Polymorphism | Animal models | Transcription factors | retinal degeneration | Nonsense mutation | Amino acids | Data processing | MAP kinase | Retina | Missense mutation | Photoreceptors | Gene mapping | Cilia | Index Medicus
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13. Full Text Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy
by Roosing, Susanne and Rohrschneider, Klaus and Beryozkin, Avigail and Sharon, Dror and Weisschuh, Nicole and Staller, Jennifer and Kohl, Susanne and Zelinger, Lina and Peters, Theo A and Neveling, Kornelia and Strom, Tim M and van den Born, L. Ingeborgh and Hoyng, Carel B and Klaver, Caroline C.W and Roepman, Ronald and Wissinger, Bernd and Banin, Eyal and Cremers, Frans P.M and den Hollander, Anneke I and European Retinal Dis Consortium and European Retinal Disease Consortium
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 110 - 117
The majority of the genetic causes of autosomal-recessive (ar) cone-rod dystrophy (CRD) are currently unknown. A combined approach of homozygosity mapping and... 
RAB11 | TRANSPORT | ORTHOLOG | PROTEIN | GENE | POST-GOLGI TRAFFICKING | GENETICS & HEREDITY | RHODOPSIN | RPGRIP1L | RETINITIS-PIGMENTOSA | Alternative Splicing | Humans | rab GTP-Binding Proteins - genetics | Protein Prenylation | Retinal Pigment Epithelium - pathology | Isoenzymes - metabolism | Retina - enzymology | Retinal Rod Photoreceptor Cells - enzymology | Photoreceptor Connecting Cilium - metabolism | Adult | Child | rab GTP-Binding Proteins - metabolism | Genetic Predisposition to Disease | Cilia - pathology | Genetic Association Studies | Isoenzymes - genetics | Gene Expression Regulation | Rats | Retinitis Pigmentosa - genetics | Retinal Pigment Epithelium - enzymology | Chromosome Mapping | Visual Acuity | Genes, Recessive | Cilia - metabolism | Protein Transport | Homozygote | Retinitis Pigmentosa - enzymology | Animals | Pedigree | Adolescent | Retina - pathology | Retinitis Pigmentosa - pathology | Codon, Nonsense - genetics | Photoreceptor Connecting Cilium - pathology | Retinal Rod Photoreceptor Cells - pathology | Genetic code | Gene mutations | Physiological aspects | Eye diseases | Genetic aspects | Research | Guanosine triphosphatase | Retina | Mutation | Ribonucleic acid--RNA | Siblings | Index Medicus | Report
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