المؤلفون: Keigo Natsume, Taro Kominami, Kensuke Goto, Yoshito Koyanagi, Taiga Inooka, Junya Ota, Kenichi Kawano, Kazuhisa Yamada, Daishi Okuda, Kenya Yuki, Koji M. Nishiguchi, Hiroaki Ushida

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-13 (2024)

مصطلحات موضوعية: Retinitis pigmentosa, Cone-rod dystrophy, Macular dystrophy, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/20870e1eb810428d8db509ca999f6c88

المؤلفون: Alexis Ceecee Britten-Jones, BOptom (Hons), PhD, Chi D. Luu, BOrth (Hons), PhD, Jasleen K. Jolly, MSc, DPhil, Carla J. Abbott, BOptom, PhD, Penelope J. Allen, MBBS, FRANZCO, Tina Lamey, PhD, Terri McLaren, BSc, Jennifer A. Thompson, PhD, John De Roach, PhD, Thomas L. Edwards, PhD, FRANZCO, Lauren N. Ayton, BOptom, PhD

المصدر: Ophthalmology Science, Vol 5, Iss 2, Pp 100649- (2025)

مصطلحات موضوعية: Retinitis pigmentosa, Inherited retinal disease, Rod-cone dystrophy, Cone-rod dystrophy, Natural history, Ophthalmology, RE1-994

Relation: http://www.sciencedirect.com/science/article/pii/S2666914524001854; https://doaj.org/toc/2666-9145; https://doaj.org/article/cb266a848dae4b4f9180c27d3cfda2ff

الاتاحة: https://doi.org/10.1016/j.xops.2024.100649
https://doaj.org/article/cb266a848dae4b4f9180c27d3cfda2ff

المؤلفون: Pei-Liang Wu, Pei-Hsuan Lin, Winston Lee, Ethan Hung-Hsi Wang, Eugene Yu-Chuan Kang, Laura Liu, Nan-Kai Wang

المصدر: American Journal of Ophthalmology Case Reports, Vol 36, Iss , Pp 102094- (2024)

مصطلحات موضوعية: Cone-rod dystrophy (CORD), GUCY2D, Full field electroretinography (ffERG), Electronegative ERG, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S245199362400104X; https://doaj.org/toc/2451-9936

URL الوصول: https://doaj.org/article/43287b412b3d44e28a593f7169965e8b

المؤلفون: Oh, Jin Kyun, Vargas Del Valle, José G, Lima de Carvalho, Jose Ronaldo, Sun, Young Joo, Levi, Sarah R, Ryu, Joseph, Yang, Jing, Nagasaki, Takayuki, Emanuelli, Andres, Rasool, Nailyn, Allikmets, Rando, Sparrow, Janet R, Izquierdo, Natalio J, Duncan, Jacque L, Mahajan, Vinit B, Tsang, Stephen H

المصدر: Orphanet Journal of Rare Diseases. 17(1)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Rare Diseases, Genetics, Neurosciences, Clinical Research, Neurodegenerative, Eye Disease and Disorders of Vision, 2.1 Biological and endogenous factors, Eye, Carrier Proteins, Electroretinography, Genetic Association Studies, Humans, Mutation, Phenotype, Retinal Dystrophies, TTLL5, Inherited retinal dystrophy, Retinitis pigmentosa, Cone-rod dystrophy, Cone dystrophy, Autosomal recessive, Cone–rod dystrophy, Other Medical and Health Sciences, Genetics & Heredity, Clinical sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/59g1m12n
https://escholarship.org/content/qt59g1m12n/qt59g1m12n.pdf

المؤلفون: Kevin Puertas-Neyra, Rosa M. Coco-Martin, Leticia A. Hernandez-Rodriguez, Dino Gobelli, Yenisey Garcia-Ferrer, Raicel Palma-Vecino, Juan José Tellería, Maria Simarro, Miguel A. de la Fuente, Ivan Fernandez-Bueno

المصدر: Stem Cell Research & Therapy, Vol 15, Iss 1, Pp 1-24 (2024)

مصطلحات موضوعية: iPSC, Retinal diseases, PROM1 gene, CD133, Retinitis pigmentosa, Cone-rod dystrophy, Medicine (General), R5-920, Biochemistry, QD415-436

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1757-6512

URL الوصول: https://doaj.org/article/dda4a69b160541f4adba672a7f7cb41d

المؤلفون: Seyedeh Maryam Hosseini, Reza Nejad Shahrokh Abadi, Meisam Babaei, Fatemeh Eghbal, Narges Hashemi

المصدر: Clinical Case Reports, Vol 12, Iss 11, Pp n/a-n/a (2024)

مصطلحات موضوعية: cone‐rod dystrophy, NCL, neurodegeneration, pediatric ophthalmology, retinal degeneration, Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2050-0904

URL الوصول: https://doaj.org/article/96fb80cddf4147ccb142717e2ea14ebb

المؤلفون: Diana Jecan-Toader, Adrian Trifa, Bogdan Lucian, Tudor Lucian Pop, Simona Sorana Cainap

المصدر: Frontiers in Pediatrics, Vol 12 (2024)

مصطلحات موضوعية: Alström syndrome, dilated cardiomyopathy, cone-rod dystrophy, obesity, genotype-phenotype correlations, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2024.1463903/full; https://doaj.org/toc/2296-2360

URL الوصول: https://doaj.org/article/1638a40f562441cc87b1cfef65fa56ad

المؤلفون: Martin-Gutierrez, Maria Pilar, Schiff, Elena R, Wright, Genevieve, Waseem, Naushin, Mahroo, Omar A, Michaelides, Michel, Moore, Anthony T, Webster, Andrew R, Arno, Gavin

المصدر: Investigative Ophthalmology & Visual Science. 63(9)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Neurosciences, Eye Disease and Disorders of Vision, Genetics, Biotechnology, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Eye, AC133 Antigen, Alleles, Cone-Rod Dystrophies, Humans, Mutation, Mutation, Missense, Pedigree, Phenotype, Retinal Dystrophies, Retinitis Pigmentosa, RIMS1, PROM1, CORD7, autosomal dominant cone rod dystrophy, Genomics England Research Consortium, Biological Sciences, Medical and Health Sciences, Ophthalmology & Optometry, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/84z8m4m1
https://escholarship.org/content/qt84z8m4m1/qt84z8m4m1.pdf

المؤلفون: Moran, Ailís L, Carter, Stephen P, Kaylor, Joanna J, Jiang, Zhichun, Broekman, Sanne, Dillon, Eugene T, Sánchez, Alicia Gómez, Minhas, Sajal K, Wijk, Erwin, Radu, Roxana A, Travis, Gabriel H, Carey, Michelle, Blacque, Oliver E, Kennedy, Breandán N

المصدر: The FASEB Journal. 36(5)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Ophthalmology and Optometry, Neurosciences, Eye Disease and Disorders of Vision, Eye, Animals, Blindness, Humans, Phagocytosis, Proteomics, Retinal Cone Photoreceptor Cells, Retinoids, Zebrafish, rab GTP-Binding Proteins, bisretinoids, cilia, ciliopathy, cone-rod dystrophy, outer segment, phagocytosis, Rab28, retinoids, visual cycle, zebrafish, Biochemistry and Cell Biology, Physiology, Medical Physiology, Biochemistry & Molecular Biology, Biochemistry and cell biology, Medical physiology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3tb646fs

المؤلفون: Caroline Atef Tawfik, Maged Maher Roshdy, Nancy Magdy Morris

المصدر: BMC Ophthalmology, Vol 23, Iss 1, Pp 1-8 (2023)

مصطلحات موضوعية: Autosomal recessive bestrophinopathy, Cone-rod dystrophy, Egypt, Inherited retinal diseases, Prevalence, Retinitis pigmentosa, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2415

URL الوصول: https://doaj.org/article/78419ca248084861bc1b6079b1e93e31

المؤلفون: Russell W. Mellen, Kaitlyn R. Calabro, K. Tyler McCullough, Sean M. Crosson, Alejandro de la Cova, Diego Fajardo, Emily Xu, Sanford L. Boye, Shannon E. Boye

المصدر: Molecular Therapy: Methods & Clinical Development, Vol 30, Iss , Pp 48-64 (2023)

مصطلحات موضوعية: AAV, adeno-associated virus, GUCY2D, cone-rod dystrophy, CORD6, gene therapy, Genetics, QH426-470, Cytology, QH573-671

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2329050123000827; https://doaj.org/toc/2329-0501

URL الوصول: https://doaj.org/article/e73f2be0ddd74708a9903c786112e07c

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

URL الوصول: https://escholarship.org/uc/item/99z9w66h

المؤلفون: Zeitz, Christina, Navarro, Julien, Azizzadeh Pormehr, Leila, Méjécase, Cécile, M. Neves, Luiza, Letellier, Camille, Condroyer, Christel, Albadri, Shahad, Amprou, Andréa, Antonio, Aline, Ben-Yacoub, Tasnim, Wohlschlegel, Juliette, Andrieu, Camille, Serafini, Malo, Bianco, Lorenzo, Antropoli, Alessio, Nassisi, Marco, El Shamieh, Said, Chantot-Bastaraud, Sandra, Mohand-Saïd, Saddek, Smirnov, Vasily, Sahel, José-Alain, del Bene, Filippo, Audo, Isabelle

المساهمون: Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de chimie bactérienne (LCB), Aix Marseille Université (AMU)-Centre National de la Recherche Scientifique (CNRS), Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Beirut Arab University Beyrouth, Liban (BAU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service de pathologie CHU Lille, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 1098-3600.

مصطلحات موضوعية: UBAP1L, autosomal recessive rod-cone and cone-rod dystrophy, novel gene defect, genome sequencing, retinal organoids, retinal pigment epithelium, zebrafish, 3D-modelling, [SDV.MHEP.OS]Life Sciences [q-bio]/Human health and pathology/Sensory Organs, [SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Genomics [q-bio.GN], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]

Relation: info:eu-repo/semantics/altIdentifier/pmid/38293907; PUBMED: 38293907

الاتاحة: https://hal.science/hal-04843771
https://hal.science/hal-04843771v1/document
https://hal.science/hal-04843771v1/file/GENETMED-D-23-00572_R4.pdf
https://doi.org/10.1016/j.gim.2024.101081

المؤلفون: Conti, G.M., Vaclavik, V., Rivolta, C., Escher, P., Schorderet, D.F., Munier, F.L., Tran, H.V.

المصدر: Ophthalmic research, vol. 67, no. 1, pp. 172-182

مصطلحات موضوعية: Humans, Retrospective Studies, Male, Female, Switzerland/epidemiology, Retinitis Pigmentosa/genetics, Retinitis Pigmentosa/diagnosis, Mutation, Child, Adult, Adolescent, DNA Mutational Analysis, Middle Aged, Eye Proteins/genetics, Preschool, Pedigree, Young Adult, Aged, Phenotype, Genetic Testing/methods, Infant, Choroidal dystrophy, Cone-rod dystrophy, Genetic landscape, Inherited retinal disorder, Macular dystrophy, Molecular characterization, Next-generation sequencing, Pediatric retinal dystrophy, Retinitis pigmentosa

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/38160664; info:eu-repo/semantics/altIdentifier/eissn/1423-0259; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_8DEDBEF66B837; https://serval.unil.ch/notice/serval:BIB_8DEDBEF66B83; https://serval.unil.ch/resource/serval:BIB_8DEDBEF66B83.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_8DEDBEF66B83
https://doi.org/10.1159/000536036
https://serval.unil.ch/resource/serval:BIB_8DEDBEF66B83.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_8DEDBEF66B837

المؤلفون: de Guimaraes, Thales AC, Lai, Francesco, Colombatti, Raffaella, Sato, Giovanni, Rizzo, Roberta, Kalitzeos, Angelos, Michaelides, Michel

المصدر: Ophthalmic Genetics pp. 1-10. (2024) (In press).

مصطلحات موضوعية: adaptive optics, AOSLO, cone dystrophy, cone-rod dystrophy, hypomorphic, inherited, KCNV2, microperimetry, VFMA

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10189811/1/Structural%20and%20functional%20characterization%20of%20an%20individual%20with%20the%20M285R%20KCNV2%20hypomorphic%20allele.pdf; https://discovery.ucl.ac.uk/id/eprint/10189811/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10189811/1/Structural%20and%20functional%20characterization%20of%20an%20individual%20with%20the%20M285R%20KCNV2%20hypomorphic%20allele.pdf
https://discovery.ucl.ac.uk/id/eprint/10189811/

المؤلفون: Lidia Fernández-Caballero, Inmaculada Martín-Merida, Fiona Blanco-Kelly, Almudena Avila-Fernandez, Ester Carreño, Patricia Fernandez-San Jose, Cristina Irigoyen, Belen Jimenez-Rolando, Fermina Lopez-Grondona, Ignacio Mahillo, María Pilar Martin-Gutierrez, Pablo Minguez, Irene Perea-Romero, Marta Del Pozo-Valero, Rosa Riveiro-Alvarez, Cristina Rodilla, Lidya Rodriguez-Peña, Ana Isabel Sánchez-Barbero, Saoud T. Swafiri, María José Trujillo-Tiebas, Olga Zurita, Blanca García-Sandoval, Marta Corton, Carmen Ayuso

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 5, p 2913 (2024)

مصطلحات موضوعية: retinitis pigmentosa, cone/cone–rod dystrophy, macular dystrophy, PRPH2, genotype–phenotype correlation, Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/5/2913; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/33858ca3fd7140b0816bd0db4296ac07

الاتاحة: https://doi.org/10.3390/ijms25052913
https://doaj.org/article/33858ca3fd7140b0816bd0db4296ac07

المؤلفون: Doaa Milibari, Sawsan R. Nowilaty, Rola Ba-Abbad

المصدر: Genes, Vol 15, Iss 6, p 762 (2024)

مصطلحات موضوعية: Bardet–Biedl syndrome, BBSome, chaperonin complex, ciliopathy, cone–rod dystrophy, polydactyly, Genetics, QH426-470

Relation: https://www.mdpi.com/2073-4425/15/6/762; https://doaj.org/toc/2073-4425; https://doaj.org/article/c7266b971ccf436f904abd0ea3ff1d5c

الاتاحة: https://doi.org/10.3390/genes15060762
https://doaj.org/article/c7266b971ccf436f904abd0ea3ff1d5c

المؤلفون: Hahn, Leo C, van der Veen, Isa, Georgiou, Michalis, van Schooneveld, Mary J, Ten Brink, Jacoline B, Florijn, Ralph J, Mahroo, Omar A, de Carvalho, Emanuel R, Webster, Andrew R, Bergen, Arthur A, Michaelides, Michel, Boon, Camiel J F

المصدر: Ophthalmol Retina ; ISSN:2468-6530 ; Volume:9 ; Issue:1

مصطلحات موضوعية: Cone-rod dystrophy, Cone-rod homeobox gene, Histopathology, Macular dystrophy, Natural history study

Relation: https://doi.org/10.1016/j.oret.2024.08.003; https://pubmed.ncbi.nlm.nih.gov/39128788

الاتاحة: https://doi.org/10.1016/j.oret.2024.08.003
https://pubmed.ncbi.nlm.nih.gov/39128788

المؤلفون: Hui Cui, Xin Jin, Qing-Hua Yang, Ling-Hui Qu, Bao-Ke Hou, Zhao-Hui Li, Hou-Bin Huang

المصدر: International Journal of Ophthalmology, Vol 15, Iss 12, Pp 1915-1923 (2022)

مصطلحات موضوعية: cone-rod homeobox, cone-rod dystrophy, mutation, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: http://ies.ijo.cn/en_publish/2022/12/20221204.pdf; https://doaj.org/toc/2222-3959; https://doaj.org/toc/2227-4898

URL الوصول: https://doaj.org/article/f8b946cf918d469786ad56c62e2b4e08

المؤلفون: Zhen Li, Wanyu Cheng, Feiyin Zi, Juan Wang, Xiaoyu Huang, Xunlun Sheng, Weining Rong

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: cone–rod dystrophy, whole-exome sequencing, genotype, clinical phenotype, variant, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1157156/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/e1ff1e15005846e98a8503626c1aeb75