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1. 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 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 Wang, Shaohui 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, Gudrun and Nurnberg, Peter and Levy, Shawn and Smogorzewska, Agata and Otto, Edgar A and Hildebrandt, Friedhelm
Cell (Cambridge), ISSN 0092-8674, 08/2012, Volume 150, Issue 3, pp. 533 - 548
Biochemistry & Molecular Biology | Life Sciences & Biomedicine | Science & Technology | 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 | Medicin och hälsovetenskap
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2. 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
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Fundamental and applied biological sciences. Psychology | Biological and medical sciences | Genetics of eukaryotes. Biological and molecular evolution | 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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3. 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
Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Index Medicus | Abridged Index Medicus
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4. Full Text Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice
by Boldt, K and Mans, D.A and Won, J and Reeuwijk, J. van and Vogt, A and Kinkl, N and Letteboer, S.J.F and Hicks, W.L and Hurd, R.E and Naggert, J.K and Texier, Y and Hollander, A.I. den and Koenekoop, R.K and Bennett, J and Cremers, F.P.M and Gloeckner, C.J and Nishina, P.M and Roepman, R and Ueffing, M
The Journal of clinical investigation, ISSN 0021-9738, 2011, Volume 121, Issue 6, pp. 2169 - 2180
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Cell Line | Leber Congenital Amaurosis - physiopathology | Microtubule-Associated Proteins - genetics | Rod Cell Outer Segment - metabolism | Humans | Multiprotein Complexes | Recombinant Fusion Proteins - physiology | Protein Transport - physiology | Leber Congenital Amaurosis - genetics | Photoreceptor Connecting Cilium - physiology | Arrestins - metabolism | Protein Transport - genetics | Mice, Knockout | Microtubule-Associated Proteins - physiology | Protein Interaction Mapping | Vision, Ocular - physiology | Animals | Opsins - metabolism | Rod Cell Outer Segment - pathology | Eye Proteins - physiology | Mice | Eye Proteins - genetics | Microtubule-Associated Proteins - deficiency | Disease Models, Animal | Genetic disorders | Blindness | Index Medicus | Abridged Index Medicus
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5. Full Text An overview of leber congenital amaurosis: a model to understand human retinal development
by Koenekoop, Robert K
2004, Volume 49, Issue 4, 20
CRB1 | GUCY2D | retinal cell rescue | CRX | gene therapy | RPE65 | photoreceptors | RPGRIP1 | congenital retinal dystrophy | childhood blindness | Leber congenital amaurosis | AIPL1 | retinal cell transplantation | Life Sciences & Biomedicine | Ophthalmology | Science & Technology | Vision disorders | Biological and medical sciences | Medical sciences | Retinopathies | Genetic Therapy | Retina - growth & development | Retina - cytology | Retinal Degeneration - genetics | Humans | Retinal Degeneration - therapy | Cell Transplantation | Blindness - congenital | Blindness - therapy | Retinal Degeneration - congenital | Blindness - genetics | Disease Models, Animal | Index Medicus
Book Review
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6. Full Text PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome
by Ebermann, Inga and Phillips, Jennifer B and Liebau, Max C and Koenekoop, Robert K and Schermer, Bernhard and Lopez, Irma and Schäfer, Ellen and Roux, Anne-Francoise and Dafinger, Claudia and Bernd, Antje and Zrenner, Eberhart and Claustres, Mireille and Blanco, Bernardo and Nürnberg, Gudrun and Nürnberg, Peter and Ruland, Rebecca and Westerfield, Monte and Benzing, Thomas and Bolz, Hanno J
The Journal of clinical investigation, ISSN 0021-9738, 06/2010, Volume 120, Issue 6, pp. 1812 - 1823
Life Sciences & Biomedicine | Medicine, Research & Experimental | Science & Technology | Research & Experimental Medicine | Frameshift Mutation | Humans | Retinitis Pigmentosa - genetics | Genotype | Male | Syndrome | Hearing Loss - genetics | Homozygote | Phenotype | Usher Syndromes - genetics | Receptors, G-Protein-Coupled - genetics | Mutation | Usher Syndromes - metabolism | Siblings | Usher's syndrome | Care and treatment | Gene mutations | Development and progression | Genetic aspects | Properties | Retinal diseases | Identification and classification | Membrane proteins | Index Medicus | Abridged Index Medicus | Life Sciences
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7. 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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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, Feng and Wang, Hui and Wang, Hui and Tuan, Han-Fang and Tuan, Han-Fang and Nguyen, Duy H and Nguyen, Duy H and Sun, Vincent and Sun, Vincent and Keser, Vafa and Keser, Vafa and Bowne, Sara J and Bowne, Sara J and Sullivan, Lori S and Sullivan, Lori S and Luo, Hongrong and Luo, Hongrong and Zhao, Ling and Zhao, Ling and Wang, Xia and Wang, Xia and Zaneveld, Jacques E and Zaneveld, Jacques E and Salvo, Jason S and Salvo, Jason S and Siddiqui, Sorath and Siddiqui, Sorath and Mao, Louise and Mao, Louise and Wheaton, Dianna K and Wheaton, Dianna K and Birch, David G and Birch, David G and Branham, Kari E and Branham, Kari E and Heckenlively, John R and Heckenlively, John R and Wen, Cindy and Wen, Cindy and Flagg, Ken and Flagg, Ken and Ferreyra, Henry and Ferreyra, Henry and Pei, Jacqueline and Pei, Jacqueline and Khan, Ayesha and Khan, Ayesha and Ren, Huanan and Ren, Huanan and Wang, Keqing and Wang, Keqing and Lopez, Irma and Lopez, Irma and Qamar, Raheel and Qamar, Raheel and Zenteno, Juan C and Zenteno, Juan C and Ayala-Ramirez, Raul and Ayala-Ramirez, Raul and Buentello-Volante, Beatriz and Buentello-Volante, Beatriz and Fu, Qing and Fu, Qing and Simpson, David A and Simpson, David A and Li, Yumei and Li, Yumei and Sui, Ruifang and Sui, Ruifang and Silvestri, Giuliana and Silvestri, Giuliana and Daiger, Stephen P and Daiger, Stephen P and Koenekoop, Robert K and Koenekoop, Robert K and Zhang, Kang and Zhang, Kang and Chen, Rui and Chen, Rui
Human genetics, ISSN 0340-6717, 3/2014, Volume 133, Issue 3, pp. 331 - 345
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | 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 Mutations in IMPG1 Cause Vitelliform Macular Dystrophies
by Manes, Gaël and Meunier, Isabelle and Avila-Fernández, Almudena and Banfi, Sandro and Le Meur, Guylène and Zanlonghi, Xavier and Corton, Marta and Simonelli, Francesca and Brabet, Philippe and Labesse, Gilles and Audo, Isabelle and Mohand-Said, Saddek and Zeitz, Christina and Sahel, José-Alain and Weber, Michel and Dollfus, Hélène and Dhaenens, Claire-Marie and Allorge, Delphine and De Baere, Elfride and Koenekoop, Robert K and Kohl, Susanne and Cremers, Frans P.M and Hollyfield, Joe G and Sénéchal, Audrey and Hebrard, Maxime and Bocquet, Béatrice and Ayuso García, Carmen and Hamel, Christian P
American journal of human genetics, ISSN 0002-9297, 09/2013, Volume 93, Issue 3, pp. 571 - 578
Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Amino Acid Sequence | Extracellular Matrix Proteins - chemistry | Genetic Predisposition to Disease | Chromosomes, Human - genetics | Extracellular Matrix Proteins - genetics | Humans | Middle Aged | Eye Proteins - chemistry | Molecular Sequence Data | Male | Mutation - genetics | Proteoglycans - chemistry | Young Adult | Phenotype | Vitelliform Macular Dystrophy - genetics | Pedigree | Base Sequence | Inheritance Patterns - genetics | Adult | Female | Eye Proteins - genetics | Fundus Oculi | Proteoglycans - genetics | Physiological aspects | Eye diseases | Genetic aspects | Research | Gene mutations | Gene expression | Proteins | Genotype & phenotype | Retina | Genetic disorders | Mutation | Index Medicus | Report
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