المؤلفون: Kurzawa-Akanbi, Marzena, Tzoumas, Nik, Corral-Serrano, Julio C, Guarascio, Rosellina, Steel, David, Cheetham, Michael E, Armstrong, Lyle, Lako, Majlinda

المصدر: Progress in Retinal and Eye Research , 100 , Article 101248. (2024)

مصطلحات موضوعية: AMD, Antisense oligonucleotides, Biomarker, CEP290, CRISPR-Cas9, Cilia, ESCs, Gene therapy, MELAS, Mitochondria, PRPFs, PSCs, RP, RPE, Retina, Retinoblastoma, Toxicity, iPSCs

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10187523/1/1-s2.0-S1350946224000132-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10187523Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10187523/1/1-s2.0-S1350946224000132-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10187523Test/

المؤلفون: Baz-Redón, Noelia, Sánchez-Bellver, Laura, Fernández-Cancio, Mónica, Rovira-Amigo, Sandra, Burgoyne, Thomas, Ranjit, Rai, Aquino, Virginia, Toro-Barrios, Noemí, Carmona, Rosario, Polverino, Eva, Cols, Maria, Moreno-Galdó, Antonio, Camats-Tarruella, Núria, Marfany, Gemma

المصدر: Cells , 13 (6) p. 524. (2024)

مصطلحات موضوعية: primary cilia, motile cilia, primary ciliary dyskinesia, retinitis pigmentosa, PCD, XLRP, RPGR, CEP290, modifier gene

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10189536/1/cells-13-00524.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10189536Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10189536/1/cells-13-00524.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10189536Test/

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: Sarah E. Grabinski, Dhwani Parsana, Brian D. Perkins

المصدر: Frontiers in Molecular Neuroscience, Vol 16 (2023)

مصطلحات موضوعية: cep290, regeneration, zebrafish, bbs2, Müller cell 22, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fnmol.2023.1148840/fullTest; https://doaj.org/toc/1662-5099Test

الوصول الحر: https://doaj.org/article/3e873b9aab0b4e3eb034c98f2669eca5Test

المؤلفون: Gazmend Temaj, John A Sayer, Lidvana Spahiu, Thomas Liehr, Emir Behluli

المصدر: F1000Research, Vol 11 (2023)

مصطلحات موضوعية: Joubert syndrome, CEP290, molecular genetics, ciliopathy, retinal dystrophy, eng, Medicine, Science

وصف الملف: electronic resource

العلاقة: https://f1000research.com/articles/11-388/v2Test; https://doaj.org/toc/2046-1402Test

الوصول الحر: https://doaj.org/article/8d747da280bc493dbd61faa05b47dba0Test

المؤلفون: Corral-Serrano, Julio C, Sladen, Paul E, Ottaviani, Daniele, Rezek, Olivia F, Athanasiou, Dimitra, Jovanovic, Katarina, Van der Spuy, Jacqueline, Mansfield, Brian C, Cheetham, Michael E

المصدر: Cells , 12 (12) , Article 1575. (2023)

مصطلحات موضوعية: CEP290, Leber congenital amaurosis (LCA), retina, ciliopathy, photoreceptor, cilium, eupatilin, retinal organoid

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10172581/1/cells-12-01575.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10172581Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10172581/1/cells-12-01575.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10172581Test/

المؤلفون: Julio C. Corral-Serrano, Paul E. Sladen, Daniele Ottaviani, Olivia F. Rezek, Dimitra Athanasiou, Katarina Jovanovic, Jacqueline van der Spuy, Brian C. Mansfield, Michael E. Cheetham

المصدر: Cells; Volume 12; Issue 12; Pages: 1575

مصطلحات موضوعية: CEP290, Leber congenital amaurosis (LCA), retina, ciliopathy, photoreceptor, cilium, eupatilin, retinal organoid

وصف الملف: application/pdf

العلاقة: https://dx.doi.org/10.3390/cells12121575Test

الإتاحة: https://doi.org/10.3390/cells12121575Test

المؤلفون: Ottaviani, Daniele, Corral-Serrano, Julio C, Sladen, Paul E, Rezek, Olivia F, Athanasiou, Dimitra, Jovanovic, Katarina, van der Spuy, Jacqueline, Mansfield, Brian C, Cheetham, Michael E

المساهمون: Ottaviani, Daniele, Corral-Serrano, Julio C, Sladen, Paul E, Rezek, Olivia F, Athanasiou, Dimitra, Jovanovic, Katarina, van der Spuy, Jacqueline, Mansfield, Brian C, Cheetham, Michael E

مصطلحات موضوعية: CEP290, Leber congenital amaurosis (LCA), ciliopathy, cilium, eupatilin, photoreceptor, retina, retinal organoid

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37371046; info:eu-repo/semantics/altIdentifier/wos/WOS:001014284600001; volume:12; issue:12; firstpage:1575; journal:CELLS; https://hdl.handle.net/11577/3488404Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85163808682

الإتاحة: https://doi.org/10.3390/cells12121575Test
https://hdl.handle.net/11577/3488404Test

المؤلفون: Ilir Ahmetgjekaj, PhD, Masum Rahman, MD, Fjolla Hyseni, MD, Ali Guy, Kulsum Madani, MD, Kristi Saliaj, MD, Angela Guy, MD, PhD, Valon Vokshi, Ina Kola, MD, Juna Musa, MD, MSc

المصدر: Radiology Case Reports, Vol 16, Iss 5, Pp 1075-1079 (2021)

مصطلحات موضوعية: Joubert syndrome, ciliopathy, CEP290, molar tooth sign, MRI, Medical physics. Medical radiology. Nuclear medicine, R895-920

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S1930043321000947Test; https://doaj.org/toc/1930-0433Test

الوصول الحر: https://doaj.org/article/43dd88c0499d44fbbae0a2f6c58d8a83Test

المؤلفون: Meilian Peng, Shuai Han, Juan Sun, Xiaodong He, Yaer Lv, Liwei Yang

المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)

مصطلحات موضوعية: CEP290, Meckel syndrome, novel mutation, whole exome sequencing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/c237777ef8be4111b6cc76fcc23c1383Test