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1. Revisiting Congenital Stationary Night Blindness in the Molecular Era
by Robert K Koenekoop
JAMA Ophthalmology, ISSN 2168-6165, 04/2018, Volume 136, Issue 4, p. 398
We are in the midst of an unprecedented and exciting paradigm shift in ophthalmology and the visual sciences. We are deepening our understanding and... 
Genotype & phenotype | Phototransduction | Phenotypes | Visual impairment | Blindness | Retina | Ophthalmology | Nyctalopia | Stationary night blindness
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2. Full Text Revisiting Congenital Stationary Night Blindness in the Molecular Era
by Koenekoop, Robert K
JAMA Ophthalmology, ISSN 2168-6165, 04/2018, Volume 136, Issue 4, pp. 398 - 399
GENE | OPHTHALMOLOGY
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3. Association of Genetic Variants With Response to Anti–Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration
by Laura Lorés-Motta and Moeen Riaz and Michelle Grunin and Jordi Corominas and Freekje van Asten and Marc Pauper and Mathieu Leenders and Andrea J Richardson and Philipp Muether and Angela J Cree and Helen L Griffiths and Connie Pham and Marie-Claude Belanger and Magda A Meester-Smoor and Manir Ali and Iris M Heid and Lars G Fritsche and Usha Chakravarthy and Richard Gale and Martin McKibbin and Chris F Inglehearn and Reinier O Schlingemann and Amer Omar and John Chen and Robert K Koenekoop and Sascha Fauser and Robyn H Guymer and Carel B Hoyng and Eiko K de Jong and Andrew J Lotery and Paul Mitchell and Anneke I den Hollander and Paul N Baird and Itay Chowers
JAMA Ophthalmology, ISSN 2168-6165, 08/2018, Volume 136, Issue 8, p. 875
Importance Visual acuity (VA) outcomes differ considerably among patients with neovascular age-related macular degeneration (nAMD) treated with anti–vascular... 
Retinopathy | Nucleotide sequence | Medical treatment | Diabetes mellitus | Data processing | Genomes | Patients | Acuity | Bevacizumab | Macular degeneration | Genetic variance | Genotyping | Blindness | Replication | Degeneration | Ophthalmology | Genetic factors | Vascular endothelial growth factor | Age
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4. Full Text Orbital cellulitis and multiple abscess formation after strabismus surgery
by Mikhail, Mikel and Koenekoop, Robert K and Khan, Ayesha
Canadian Journal of Ophthalmology, ISSN 0008-4182, 04/2016, Volume 51, Issue 2, p. e60-e62
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5. Full Text Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy
by Otto, E.A and Hurd, T.W and Airik, R and Chaki, M and Zhou, W and Stoetzel, C and Patil, S.B and Levy, S and Ghosh, A.K and Murga-Zamalloa, C.A and Reeuwijk, J. van and Letteboer, S.J.F and Sang, L and Giles, R.H and Liu, Q and Coene, K.L.M and Estrada-Cuzcano, A and Collin, R.W.J and McLaughlin, H.M and Held, S and Kasanuki, J.M and Ramaswami, G and Conte, J and Lopez, I and Washburn, J and Macdonald, J and Hu, J and Yamashita, Y and Maher, E.R and Guay-Woodford, L.M and Neumann, H.P and Obermuller, N and Koenekoop, R.K and Bergmann, C and Bei, X and Lewis, R.A and Katsanis, N and Lopes, V and Williams, D.S and Lyons, R.H and Dang, C.V and Brito, D.A and Dias, M.B and Zhang, X and Cavalcoli, J.D and Nurnberg, G and Nurnberg, P and Pierce, E.A and Jackson, P.K and Antignac, C and Saunier, S and Roepman, R and Dollfus, H and Khanna, H and Hildebrandt, F
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 10, pp. 840 - 850
Nephronophthisis-related ciliopathies (NPHP-RC) are recessive disorders that feature dysplasia or degeneration occurring preferentially in the kidney, retina... 
JOUBERT-SYNDROME | I SYNDROME | CILIARY | GENE | POLYCYSTIC KIDNEY-DISEASE | CYSTIC-DISEASE | CAUSE NEPHRONOPHTHISIS | GENETICS & HEREDITY | MULTIPOINT LINKAGE ANALYSIS | CENTROSOMAL PROTEIN | DOMAIN PROTEIN | Retinal Diseases - genetics | Humans | Molecular Sequence Data | Neoplasm Proteins - antagonists & inhibitors | Autoantigens - genetics | Case-Control Studies | Kidney Diseases - genetics | Gene Expression Regulation, Developmental | Retinal Diseases - pathology | Neoplasm Proteins - genetics | Cyclic AMP - metabolism | Fluorescent Antibody Technique, Indirect | Photoreceptor Cells, Vertebrate - ultrastructure | Genetic Association Studies | Kidney Diseases - pathology | RNA, Messenger - genetics | RNA, Small Interfering - pharmacology | Rats | Exons - genetics | Mutation - genetics | Reverse Transcriptase Polymerase Chain Reaction | Zebrafish - growth & development | Blotting, Western | Zebrafish - genetics | Centrosome - metabolism | Proteins - genetics | Homozygote | Two-Hybrid System Techniques | Animals | Proteins - metabolism | Family | Mice | Photoreceptor Cells, Vertebrate - metabolism | Subcellular Fractions | Gene mutations | Genetic aspects | Research | Kidney diseases | Health aspects | Retinal diseases | Risk factors | Studies | Genetics | Mutation | Genes | Cell cycle | Index Medicus
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6. Full Text Oral 9-cis retinoid for childhood blindness due to Leber congenital amaurosis caused byRPE65orLRATmutations: an open-label phase 1b trial
by Robert K Koenekoop and Ruifang Sui and Juliana Sallum and L Ingeborgh van den Born and Radwan Ajlan and Ayesha Khan and Anneke I den Hollander and Frans P M Cremers and Janine D Mendola and Ava K Bittner and Gislin Dagnelie and Ronald A Schuchard and David A Saperstein
The Lancet, ISSN 0140-6736, 10/2014, Volume 384, Issue 9953, p. 1513
  Leber congenital amaurosis, caused by mutations inRPE65andLRAT, is a severe form of inherited retinal degeneration leading to blindness. We aimed to assess... 
Medical treatment | Blindness | Pigments | Retina | Photoreceptors | Mutation | Patients | Children & youth
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7. Full Text Erratum to: Witnessing the first sign of retinitis pigmentosa onset in the allegedly normal eye of a case of unilateral RP: a 30-year follow-up
by Gauvin, Mathieu and Chakor, Hadi and Koenekoop, Robert K and Little, John M and Lina, Jean-Marc and Lachapelle, Pierre
Documenta Ophthalmologica, ISSN 0012-4486, 6/2016, Volume 132, Issue 3, pp. 231 - 231
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10633-016-9542-1 
Medicine & Public Health | Ophthalmology
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8. Full Text Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements
by Wang, Feng and Wang, Hui and Tuan, Han-Fang and Nguyen, Duy H and Sun, Vincent and Keser, Vafa and Bowne, Sara J and Sullivan, Lori S and Luo, Hongrong and Zhao, Ling and Wang, Xia and Zaneveld, Jacques E and Salvo, Jason S and Siddiqui, Sorath and Mao, Louise and Wheaton, Dianna K and Birch, David G and Branham, Kari E and Heckenlively, John R and Wen, Cindy and Flagg, Ken and Ferreyra, Henry and Pei, Jacqueline and Khan, Ayesha and Ren, Huanan and Wang, Keqing and Lopez, Irma and Qamar, Raheel and Zenteno, Juan C and Ayala-Ramirez, Raul and Buentello-Volante, Beatriz and Fu, Qing and Simpson, David A and Li, Yumei and Sui, Ruifang and Silvestri, Giuliana and Daiger, Stephen P and Koenekoop, Robert K and Zhang, Kang and Chen, Rui
Human Genetics, ISSN 0340-6717, 3/2014, Volume 133, Issue 3, pp. 331 - 345
Retinitis pigmentosa (RP) is a devastating form of retinal degeneration, with significant social and professional consequences. Molecular genetic information... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | HEARING-LOSS | LEBER CONGENITAL AMAUROSIS | TRANSPORTER GENE | FAMILIES | DISEASE | GENETICS & HEREDITY | DOMINANT | BARDET-BIEDL SYNDROME | MUTATIONS | SPECTRUM | CORNEO-RETINAL DYSTROPHY | Reproducibility of Results | Genetic Testing | Molecular Chaperones - metabolism | Genetic Association Studies | Membrane Glycoproteins - metabolism | Exons | Humans | Computational Biology | Molecular Chaperones - genetics | Retinitis Pigmentosa - genetics | Genotype | Genes, Recessive | Sequence Analysis, DNA | Membrane Glycoproteins - genetics | Retinitis Pigmentosa - diagnosis | Phenotype | Pedigree | Alleles | High-Throughput Nucleotide Sequencing | Polymorphism, Single Nucleotide | Mutation | Retinitis pigmentosa | Genetic aspects | Index Medicus | retinitis pigmentosa | retinal capture NGS | blindness | next generation sequencing | whole exome sequencing | retinal genes
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9. Full Text Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene
by Koji M. Nishiguchi and Richard G. Tearle and Yangfan P. Liu and Edwin C. Oh and Noriko Miyake and Paola Benaglio and Shyana Harper and Hanna Koskiniemi-Kuendig and Giulia Venturini and Dror Sharon and Robert K. Koenekoop and Makoto Nakamura and Mineo Kondo and Shinji Ueno and Tetsuhiro R. Yasuma and Jacques S. Beckmann and Shiro Ikegawa and Naomichi Matsumoto and Hiroko Terasaki and Eliot L. Berson and Nicholas Katsanis and Carlo Rivolta
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2013, Volume 110, Issue 40, pp. 16139 - 16144
We performed whole genome sequencing in 16 unrelated patients with autosomal recessive retinitis pigmentosa (ARRP), a disease characterized by progressive... 
Phenotypes | Retinitis pigmentosa | DNA | Genes | Medical genetics | Photoreceptors | Genomes | Genetic mutation | Embryos | Sequencing | Ciliopathy | Ophthalmology | Retinal blindness | APOPTOSIS | PROTEIN | ROOTLETIN | MULTIDISCIPLINARY SCIENCES | COPY-NUMBER VARIATIONS | ciliopathy | HEARING-LOSS | medical genetics | THERAPY | MUTATION | RHODOPSIN | retinal blindness | ophthalmology | LEBERS CONGENITAL AMAUROSIS | ASSOCIATION | Genome-Wide Association Study | United States | Humans | Japan | Protein-Serine-Threonine Kinases - genetics | Molecular Sequence Data | Retinitis Pigmentosa - genetics | Zebrafish | Sequence Analysis, DNA | Genome, Human - genetics | Animals | Genetics, Medical | Base Sequence | Gene Rearrangement - genetics | Frameshift Mutation - genetics | NIMA-Related Kinases | Physiological aspects | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing | Eye diseases | Mutation | Kinases | Patients | Index Medicus | Biological Sciences
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10. Full Text Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling
by Chaki, Moumita and Airik, Rannar and Ghosh, Amiya K and Giles, Rachel H and Chen, Rui and Slaats, Gisela G and Wang, Hui and Wang, Shaohui and Hurd, Toby W and Zhou, Weibin and Cluckey, Andrew and Gee, Heon Yung and Ramaswami, Gokul and Hong, Chen-Jei and Hamilton, Bruce A and Červenka, Igor and Ganji, Ranjani Sri and Bryja, Vitezslav and Arts, Heleen H and van Reeuwijk, Jeroen and Oud, Machteld M and Letteboer, Stef J.F and Roepman, Ronald and Husson, Hervé and Ibraghimov-Beskrovnaya, Oxana and Yasunaga, Takayuki and Walz, Gerd and Eley, Lorraine and Sayer, John A and Schermer, Bernhard and Liebau, Max C and Benzing, Thomas and Le Corre, Stephanie and Drummond, Iain and Janssen, Sabine and Allen, Susan J and Natarajan, Sivakumar and O’Toole, John F and Attanasio, Massimo and Saunier, Sophie and Antignac, Corinne and Koenekoop, Robert K and Ren, Huanan and Lopez, Irma and Nayir, Ahmet and Stoetzel, Corinne and Dollfus, Helene and Massoudi, Rustin and Gleeson, Joseph G and Andreoli, Sharon P and Doherty, Dan G and Lindstrad, Anna and Golzio, Christelle and Katsanis, Nicholas and Pape, Lars and Abboud, Emad B and Al-Rajhi, Ali A and Lewis, Richard A and Omran, Heymut and Lee, Eva Y.-H.P and Sekiguchi, JoAnn M and Saunders, Rudel and Johnson, Colin A and Garner, Elizabeth and Vanselow, Katja and Andersen, Jens S and Shlomai, Joseph and Nurnberg, Peter and Nurnberg, Gudrun and Levy, Shawn and Smogorzewska, Agata and Otto, Edgar A and Hildebrandt, Friedhelm
Cell, ISSN 0092-8674, 08/2012, Volume 150, Issue 3, pp. 533 - 548
Nephronophthisis-related ciliopathies (NPHP-RC) are degenerative recessive diseases that affect kidney, retina, and brain. Genetic defects in gene products... 
JOUBERT-SYNDROME | GENOMIC STABILITY | GENE | POLYCYSTIC KIDNEY-DISEASE | HUMAN-CELLS | BIOCHEMISTRY & MOLECULAR BIOLOGY | MOUSE | SECKEL-SYNDROME | ATAXIA-TELANGIECTASIA | MULTIPOINT LINKAGE ANALYSIS | CENTROSOMAL PROTEIN | CELL BIOLOGY | Signal Transduction | Humans | Microtubule Proteins - metabolism | Zebrafish - embryology | Genes, Recessive | Cilia - metabolism | Gene Knockdown Techniques | DNA-Binding Proteins - metabolism | Exome | MRE11 Homologue Protein | Animals | Zebrafish - metabolism | Kidney Diseases, Cystic - genetics | Mice | DNA Damage | Hypertension | Medical colleges | Molecular genetics | Children's hospitals | DNA damage | Genes | Automated teller machines | DNA repair | Proteins | Analysis | DNA | Medical genetics | Genetic research | Genetic aspects | Ophthalmology | Index Medicus
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11. Full Text Retinal disorders and sleep disorders: Are they genetically related?
by Murphy, Caitlin and Duponsel, Nathalie and Huang, Xi Sheila and Wittich, Walter and Koenekoop, Robert K and Overbury, Olga
Journal of Visual Impairment and Blindness, ISSN 0145-482X, 09/2015, Volume 109, Issue 5, pp. 359 - 370
Introduction: Sleep is important for optimal physical health and vitality. Recent studies have shown that individuals with visual impairments may be at risk... 
BLIND | INSOMNIA | DISTURBANCES | QUALITY INDEX | MEMORY | GENE | MELANOPSIN | REHABILITATION | TASIMELTEON | RETINITIS-PIGMENTOSA | DREAMS | Sleep disorders | Complications and side effects | Genetic aspects | Retinal diseases | Risk factors | Distribution | Macular degeneration | Studies | Visual impairment | Blindness | Retina | Circadian rhythm
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12. Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290
by J Jason McAnany and Mohamed A Genead and Saloni Walia and Arlene V Drack and Edwin M Stone and Robert K Koenekoop and Elias I Traboulsi and Alison Smith and Richard G Weleber and Samuel G Jacobson and Gerald A Fishman
JAMA Ophthalmology, ISSN 2168-6165, 02/2013, Volume 131, Issue 2, p. 178
  To evaluate changes in visual acuity (VA) over time in patients with Leber congenital amaurosis (LCA) and mutations in the CEP290 gene. Visual acuity was... 
Correlation analysis | Medical treatment | Eye diseases | Mutation | Ophthalmology
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13. 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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14. 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|Sui, Ruifang, MD|Sallum, Juliana, MD|van den Born, L Ingeborgh, MD|Ajlan, Radwan, MBBCh|Khan, Ayesha, MD|den Hollander, Anneke I, PhD|Cremers, Frans P M, Prof|Mendola, Janine D, PhD|Bittner, Ava K, OD/PhD|Dagnelie, Gislin, PhD|Schuchard, Ronald A, PhD|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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15. Full Text GPR179 Is Required for Depolarizing Bipolar Cell Function and Is Mutated in Autosomal-Recessive Complete Congenital Stationary Night Blindness
by Peachey, Neal S and Ray, Thomas A and Florijn, Ralph and Rowe, Lucy B and Sjoerdsma, Trijntje and Contreras-Alcantara, Susana and Baba, Kenkichi and Tosini, Gianluca and Pozdeyev, Nikita and Iuvone, P. Michael and Bojang, Pasano and Pearring, Jillian N and Simonsz, Huibert Jan and van Genderen, Maria and Birch, David G and Traboulsi, Elias I and Dorfman, Allison and Lopez, Irma and Ren, Huanan and Goldberg, Andrew F.X and Nishina, Patsy M and Lachapelle, Pierre and McCall, Maureen A and Koenekoop, Robert K and Bergen, Arthur A.B and Kamermans, Maarten and Gregg, Ronald G
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 331 - 339
Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive... 
COMPLETE FORM | LIGHT RESPONSE | CHANNEL | MGLUR6 | SYNAPTIC-TRANSMISSION | MOUSE MODEL | GENETICS & HEREDITY | NYCTALOPIN | RICH REPEAT PROTEIN | MUTATIONS | CONE ELECTRORETINOGRAM | Electroretinography - methods | Night Blindness - metabolism | Humans | Dark Adaptation - genetics | Retinal Rod Photoreceptor Cells - metabolism | Gene Knockdown Techniques - methods | Myopia - metabolism | Receptors, Metabotropic Glutamate - genetics | Retinal Bipolar Cells - physiology | Chromosome Mapping - methods | Genetic Diseases, X-Linked | Night Blindness - genetics | Retinal Bipolar Cells - metabolism | Eye Diseases, Hereditary | Signal Transduction | Mice, Inbred C57BL | Zebrafish | Mice, Inbred C3H | Myopia - genetics | Animals | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Retinal Rod Photoreceptor Cells - physiology | Heterozygote | Mice | Receptors, G-Protein-Coupled - genetics | Mutation | Chromosome mapping | Usage | Gene mutations | Retinal bipolar cells | Causes of | Physiological aspects | Night blindness | Genetic aspects | Research | Analysis | Genetic disorders | Proteins | Rodents | Blindness | Gene expression | Cells | Index Medicus | Animal models | Antibodies | Insertion | stationary night blindness | Retina | Guanine nucleotide-binding protein | Electroretinograms | Depolarization | Signal transduction | Vision | Bipolar cells | Gene mapping | DNA sequencing | Report
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16. Full Text Hypomorphic CEP290/NPHP6 Mutations Result in Anosmia Caused by the Selective Loss of G Proteins in Cilia of Olfactory Sensory Neurons
by Dyke P. McEwen and Robert K. Koenekoop and Hemant Khanna and Paul M. Jenkins and Irma Lopez and Anand Swaroop and Jeffrey R. Martens
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 10/2007, Volume 104, Issue 40, pp. 15917 - 15922
Cilia regulate diverse functions such as motility, fluid balance, and sensory perception. The cilia of olfactory sensory neurons (OSNs) compartmentalize the... 
Neurons | Nose | Antibodies | Sensory neurons | Retinal degeneration | Genetic mutation | Acetates | Freight | Cilia | Odorant receptors | Nephrocystin | Olfaction | EXCHANGE FACTOR | MULTIDISCIPLINARY SCIENCES | olfaction | nephrocystin | CENTROSOMAL PROTEIN | SIGNAL-TRANSDUCTION | JOUBERT-SYNDROME | NEPHROCYSTIN-4 | TRANSITION ZONE | ODORANT RECEPTORS | MICE | INTRAFLAGELLAR TRANSPORT | RETINITIS-PIGMENTOSA | Olfaction Disorders - genetics | Antigens, Neoplasm - genetics | Sequence Deletion | Alternative Splicing | Smell - genetics | GTP-Binding Proteins - deficiency | Humans | Male | Olfactory Mucosa - physiology | Smell - physiology | Animals | Neurons, Afferent - pathology | Olfactory Mucosa - pathology | Female | Mice | Mutation | Neoplasm Proteins - genetics | Nuclear Proteins - genetics | Olfactory Pathways - pathology | Genetic Carrier Screening | Disease Models, Animal | Evaluation | Anosmia | Causes of | G proteins | Properties | Smell | Proteins | Signal transduction | Genetics | Sensory perception | Index Medicus | Biological Sciences
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