المؤلفون: Leroy, Bart P, Birch, David G, Duncan, Jacque L, Lam, Byron L, Koenekoop, Robert K, Porto, Fernanda BO, Russell, Stephen R, Girach, Aniz

المصدر: Retina. 41(5)

مصطلحات موضوعية: Stem Cell Research, Pediatric, Stem Cell Research - Induced Pluripotent Stem Cell, Neurosciences, Rare Diseases, Genetics, Stem Cell Research - Induced Pluripotent Stem Cell - Human, Clinical Research, Eye Disease and Disorders of Vision, Clinical Trials and Supportive Activities, Eye, Antigens, Neoplasm, Blindness, Cell Cycle Proteins, Cytoskeletal Proteins, DNA, DNA Mutational Analysis, Disease Management, Health Services Needs and Demand, Humans, Leber Congenital Amaurosis, c2991+1655A>G, CEP290, childhood blindness, ciliopathy, cone-rod dystrophy, inherited retinal disease, LCA10, Leber congenital amaurosis, Opthalmology and Optometry, Ophthalmology & Optometry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/99z9w66hTest

المؤلفون: Barnes, Claire S, Schuchard, Ronald A, Birch, David G, Dagnelie, Gislin, Wood, Leah, Koenekoop, Robert K, Bittner, Ava K

المصدر: Translational Vision Science & Technology. 8(3)

مصطلحات موضوعية: Clinical Research, semiautomated kinetic perimetry, Goldmann perimetry, retinitis pigmentosa, Leber congenital amaurosis, test-retest variability, children, test–retest variability, Biomedical Engineering, Opthalmology and Optometry

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/74b9x3f6Test

المؤلفون: Burkard, Markus, Kohl, Susanne, Krätzig, Timm, Tanimoto, Naoyuki, Brennenstuhl, Christina, Bausch, Anne E, Junger, Katrin, Reuter, Peggy, Sothilingam, Vithiyanjali, Beck, Susanne C, Huber, Gesine, Ding, Xi-Qin, Mayer, Anja K, Baumann, Britta, Weisschuh, Nicole, Zobor, Ditta, Hahn, Gesa-Astrid, Kellner, Ulrich, Venturelli, Sascha, Becirovic, Elvir, Issa, Peter Charbel, Koenekoop, Robert K, Rudolph, Günther, Heckenlively, John, Sieving, Paul, Weleber, Richard G, Hamel, Christian, Zong, Xiangang, Biel, Martin, Lukowski, Robert, Seeliger, Matthias W, Michalakis, Stylianos, Wissinger, Bernd, Ruth, Peter

المصدر: Journal of Clinical Investigation. 128(12)

مصطلحات موضوعية: Genetics, Neurosciences, Brain Disorders, Eye Disease and Disorders of Vision, Aetiology, 2.1 Biological and endogenous factors, Eye, Amino Acid Substitution, Animals, Color Vision Defects, Cyclic Nucleotide-Gated Cation Channels, Disease Models, Animal, HEK293 Cells, Heterozygote, Humans, Ion Channel Gating, Mice, Mice, Transgenic, Mutation, Mutation, Missense, Retinal Cone Photoreceptor Cells, Retinal Diseases, Molecular genetics, Ophthalmology, Retinopathy, Medical and Health Sciences, Immunology

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/3tx4n83zTest

المؤلفون: Brock, Daniel C, Wang, Meng, Hussain, Hafiz Muhammad Jafar, Rauch, David E, Marra, Molly, Pennesi, Mark E, Yang, Paul, Everett, Lesley, Ajlan, Radwan S, Colbert, Jason, Porto, Fernanda Belga Ottoni, Matynia, Anna, Gorin, Michael B, Koenekoop, Robert K, Lopez, Irma, Sui, Ruifang, Zou, Gang, Li, Yumei, Chen, Rui

المصدر: Human Molecular Genetics; Jun2024, Vol. 33 Issue 11, p945-957, 13p

المؤلفون: Han, Ji Hoon, Rodenburg, Kim, Hayman, Tamar, Calzetti, Giacomo, Kaminska, Karolina, Quinodoz, Mathieu, Marra, Molly, Wallerich, Sandrine, Allon, Gilad, Nagy, Zoltán Z, Knézy, Krisztina, Li, Yumei, Chen, Rui, Barboni, Mirella Telles Salgueiro, Yang, Paul, Pennesi, Mark E, van den Born, L Ingeborgh, Varsányi, Balázs, Szabó, Viktória, Sharon, Dror, Banin, Eyal, Ben-Yosef, Tamar, Roosing, Susanne, Koenekoop, Robert K, Rivolta, Carlo

المصدر: Genet Med ; ISSN:1530-0366 ; Volume:26 ; Issue:6

مصطلحات موضوعية: Cone-rod dystrophy, Inherited retinal diseases, Rod-cone dystrophy, UBAP1L, Ubiquitin-associated protein 1-like

العلاقة: https://doi.org/10.1016/j.gim.2024.101106Test; https://pubmed.ncbi.nlm.nih.gov/38420906Test

الإتاحة: https://doi.org/10.1016/j.gim.2024.101106Test
https://pubmed.ncbi.nlm.nih.gov/38420906Test

المؤلفون: Audo, Isabelle, Birch, David G., Thiran Jayasundera, K., Meunier, Isabelle, Huckfeldt, Rachel M., Koenekoop, Robert K., Yang, Paul, de Cock, Edouard P. M., Dahler, Ellen C., Taylor, John, Shams, Naveed, Girach, Aniz

المصدر: Acta Ophthalmologica ; volume 100, issue S267 ; ISSN 1755-375X 1755-3768

الإتاحة: https://doi.org/10.1111/j.1755-3768.2022.205Test

المؤلفون: Millo, Talya, Rivera, Antonio, Obolensky, Alexey, Marks-Ohana, Devora, Xu, Mingchu, Li, Yumei, Wilhelm, Enosh, Gopalakrishnan, Prakadeeswari, Gross, Menachem, Rosin, Boris, Hanany, Mor, Webster, Andrew, Tracewska, Anna Maria, Koenekoop, Robert K., Chen, Rui, Arno, Gavin, Schueler-Furman, Ora, Roosing, Susanne, Banin, Eyal, Sharon, Dror

المصدر: Genetics in Medicine ; volume 24, issue 7, page 1523-1535 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1016/j.gim.2022.03.020Test
https://api.elsevier.com/content/article/PII:S1098360022007158?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360022007158?httpAccept=text/plainTest

المؤلفون: Mackay, Donna S, Borman, Arundhati Dev, Sui, Ruifang, Born, L Ingeborgh, Berson, Eliot L, Ocaka, Louise A, Davidson, Alice E, Heckenlively, John R, Branham, Kari, Ren, Huanan, Lopez, Irma, Maria, Maleeha, Azam, Maleeha, Henkes, Arjen, Blokland, Ellen, Group, LCA5 Study, Andreasson, Sten, Baere, Elfride, Bennett, Jean, Chader, Gerald J, Berger, Wolfgang, Golovleva, Irina, Greenberg, Jacquie, Hollander, Anneke I, Klaver, Caroline CW, Klevering, B Jeroen, Lorenz, Birgit, Preising, Markus N, Ramesar, Raj, Roberts, Lisa, Roepman, Ronald, Rohrschneider, Klaus, Wissinger], Bernd, Qamar, Raheel, Webster, Andrew R, Cremers, Frans PM, Moore, Anthony T, Koenekoop, Robert K

المصدر: Human Mutation. 34(11)

مصطلحات موضوعية: Eye Disease and Disorders of Vision, Neurosciences, Clinical Research, Genetics, Neurodegenerative, Pediatric, Rare Diseases, 2.1 Biological and endogenous factors, Aetiology, Eye, Adolescent, Adult, Alleles, Child, Child, Preschool, Consanguinity, Eye Proteins, Female, Fluorescein Angiography, Genetic Association Studies, Genotype, Humans, Infant, Infant, Newborn, Leber Congenital Amaurosis, Male, Microtubule-Associated Proteins, Middle Aged, Mutation, Pedigree, Phenotype, Retina, Retinitis Pigmentosa, Young Adult, [LCA5 Study Group, LCA, LCA5, RP, blindness, lebercilin, retinal dystrophy, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7m72w402Test

المؤلفون: de Bruijn, Suzanne E., Fiorentino, Alessia, Ottaviani, Daniele, Fanucchi, Stephanie, Melo, Uirá S., Corral-Serrano, Julio C., Mulders, Timo, Georgiou, Michalis, Rivolta, Carlo, Pontikos, Nikolas, Arno, Gavin, Roberts, Lisa, Greenberg, Jacquie, Albert, Silvia, Gilissen, Christian, Aben, Marco, Rebello, George, Mead, Simon, Raymond, F. Lucy, Corominas, Jordi, Smith, Claire E. L., Kremer, Hannie, Downes, Susan, Black, Graeme C., Webster, Andrew R., Inglehearn, Chris F., van den Born, L. Ingeborgh, Koenekoop, Robert K., Michaelides, Michel, Ramesar, Raj S., Hoyng, Carel B., Mundlos, Stefan, Mhlanga, Musa, Cremers, Frans P. M., Cheetham, Michael E., Roosing, Susanne, Hardcastle, Alison J.

مصطلحات موضوعية: Whole-genome sequencing, Dominant retinitis pigmentosa, RP17, Structural variants, Ectopic expression, Stem cells, Retinal organoids, Photoreceptor precursors cells, Hi-C, Topologically associated domains, GDPD

العلاقة: https://www.sciencedirect.com/journal/the-american-journal-of-human-geneticsTest; https://www.cell.com/ajhg/homeTest; Am J Hum Genet. 2020 Nov 5;107(5):802-814; http://hdl.handle.net/10451/46284Test

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.09.002Test
http://hdl.handle.net/10451/46284Test

المؤلفون: de Bruijn, Suzanne E., Fiorentino, Alessia, Ottaviani, Daniele, Fanucchi, Stephanie, Melo, Uirá S., Corral-Serrano, Julio C., Mulders, Timo, Georgiou, Michalis, Rivolta, Carlo, Pontikos, Nikolas, Arno, Gavin, Roberts, Lisa, Greenberg, Jacquie, Albert, Silvia, Gilissen, Christian, Aben, Marco, Rebello, George, Mead, Simon, Raymond, F. Lucy, Corominas, Jordi, Smith, Claire E. L., Kremer, Hannie, Downes, Susan, Black, Graeme C., Webster, Andrew R., Inglehearn, Chris F., van den Born, L. Ingeborgh, Koenekoop, Robert K., Michaelides, Michel, Ramesar, Raj S., Hoyng, Carel B., Mundlos, Stefan, Mhlanga, Musa M., Cremers, Frans P. M., Cheetham, Michael E., Roosing, Susanne, Hardcastle, Alison J.

وصف الملف: application/pdf

العلاقة: https://edoc.unibas.ch/79687/1/20201210100329_5fd1e46125074.pdfTest; de Bruijn, Suzanne E. and Fiorentino, Alessia and Ottaviani, Daniele and Fanucchi, Stephanie and Melo, Uirá S. and Corral-Serrano, Julio C. and Mulders, Timo and Georgiou, Michalis and Rivolta, Carlo and Pontikos, Nikolas and Arno, Gavin and Roberts, Lisa and Greenberg, Jacquie and Albert, Silvia and Gilissen, Christian and Aben, Marco and Rebello, George and Mead, Simon and Raymond, F. Lucy and Corominas, Jordi and Smith, Claire E. L. and Kremer, Hannie and Downes, Susan and Black, Graeme C. and Webster, Andrew R. and Inglehearn, Chris F. and van den Born, L. Ingeborgh and Koenekoop, Robert K. and Michaelides, Michel and Ramesar, Raj S. and Hoyng, Carel B. and Mundlos, Stefan and Mhlanga, Musa M. and Cremers, Frans P. M. and Cheetham, Michael E. and Roosing, Susanne and Hardcastle, Alison J. (2020) Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. American Journal of Human Genetics, 107 (5). pp. 802-814.; info:pmid/33022222; urn:ISSN:0002-9297; urn:ISSN:1537-6605

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.09.002Test
https://edoc.unibas.ch/79687Test/
https://edoc.unibas.ch/79687/1/20201210100329_5fd1e46125074.pdfTest