المؤلفون: Sen, Sagnik, Fabozzi, Lorenzo, Fujinami, Kaoru, Fujinami-Yokokawa, Yu, Wright, Genevieve A, Webster, Andrew, Mahroo, Omar, Robson, Anthony G, Georgiou, Michalis, Michaelides, Michel

المصدر: American Journal of Ophthalmology , 264 pp. 205-215. (2024)

مصطلحات موضوعية: IQCB1, IQCB1 retinopathy, Leber congenital amaurosis, NPHP5, Senior Loken syndrome, early onset severe retinal dystrophy, gene therapy, genetics, genotype, phenotype, renal failure, retina

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10192199/1/1-s2.0-S0002939424001156-main.pdf; https://discovery.ucl.ac.uk/id/eprint/10192199/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10192199/1/1-s2.0-S0002939424001156-main.pdf
https://discovery.ucl.ac.uk/id/eprint/10192199/

المؤلفون: Rodriguez-Martinez, Ana Catalina, Higgins, Bethany Elora, Tailor-Hamblin, Vijay, Malka, Samantha, Cheloni, Riccardo, Collins, Alexander Mark, Bladen, John, Henderson, Robert, Moosajee, Mariya

المصدر: International Journal of Molecular Sciences , 24 (18) , Article 13932. (2023)

مصطلحات موضوعية: retinal dystrophy, LCA, early-onset severe retinal dystrophy, retinitis pigmentosa (RP), macular dystrophy (MD), cone-rod dystrophy (CORD), foveal hypoplasia (FH), optical coherence tomography (OCT), Crumbs cell polarity complex component 1 gene (CRB1)

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/10177034/1/ijms-24-13932.pdf; https://discovery.ucl.ac.uk/id/eprint/10177034/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10177034/1/ijms-24-13932.pdf
https://discovery.ucl.ac.uk/id/eprint/10177034/

المؤلفون: Ana Catalina Rodriguez-Martinez, Bethany Elora Higgins, Vijay Tailor-Hamblin, Samantha Malka, Riccardo Cheloni, Alexander Mark Collins, John Bladen, Robert Henderson, Mariya Moosajee

المصدر: International Journal of Molecular Sciences, Vol 24, Iss 13932, p 13932 (2023)

مصطلحات موضوعية: retinal dystrophy, LCA, early-onset severe retinal dystrophy, retinitis pigmentosa (RP), macular dystrophy (MD), cone-rod dystrophy (CORD), Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/24/18/13932; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/c3cd52e4ba624c7ca8bdb2c1c9375b3b

الاتاحة: https://doi.org/10.3390/ijms241813932
https://doaj.org/article/c3cd52e4ba624c7ca8bdb2c1c9375b3b

المؤلفون: Kumaran, Neruban, Moore, Anthony T, Weleber, Richard G, Michaelides, Michel

المصدر: British Journal of Ophthalmology. 101(9)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Rare Diseases, Clinical Research, Gene Therapy, Clinical Trials and Supportive Activities, Genetics, Biotechnology, Eye Disease and Disorders of Vision, Neurosciences, Pediatric, 2.1 Biological and endogenous factors, Aetiology, Eye, Animals, Drug Therapy, Eye Diseases, Hereditary, Eye Proteins, Genetic Therapy, Genotype, Humans, Leber Congenital Amaurosis, Molecular Biology, Mutation, Retinal Dystrophies, (MeSH terms): retinal diseases, early onset severe retinal dystrophy, eosrd, gene therapy, lca, leber congenital amaurosis, retinal cone photoreceptor cells, review, rtinal rod photoreceptor cells, secord, severe early childhood onset retinal dystrophy, Clinical Sciences, Opthalmology and Optometry, Public Health and Health Services, Ophthalmology & Optometry, Clinical sciences, Ophthalmology and optometry

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7g91f6w8
https://escholarship.org/content/qt7g91f6w8/qt7g91f6w8.pdf

المؤلفون: Testa, Francesco, Murro, Vittoria, Signorini, Sabrina, Colombo, Leonardo, Iarossi, Giancarlo, Parmeggiani, Francesco, Falsini, Benedetto, Salvetti, Anna Paola, Brunetti-Pierri, Raffaella, Aprile, Giorgia, Bertone, Chiara, Suppiej, Agnese, Romano, Francesco, Karali, Marianthi, Donati, Simone, Melillo, Paolo, Sodi, Andrea, Quaranta, Luciano, Rossetti, Luca, Buzzonetti, Luca, Chizzolini, Marzio, Rizzo, Stanislao, Staurenghi, Giovanni, Banfi, Sandro, Azzolini, Claudio, Simonelli, Francesca

المساهمون: Testa, Francesco, Murro, Vittoria, Signorini, Sabrina, Colombo, Leonardo, Iarossi, Giancarlo, Parmeggiani, Francesco, Falsini, Benedetto, Salvetti, Anna Paola, Brunetti-Pierri, Raffaella, Aprile, Giorgia, Bertone, Chiara, Suppiej, Agnese, Romano, Francesco, Karali, Marianthi, Donati, Simone, Melillo, Paolo, Sodi, Andrea, Quaranta, Luciano, Rossetti, Luca, Buzzonetti, Luca, Chizzolini, Marzio, Rizzo, Stanislao, Staurenghi, Giovanni, Banfi, Sandro, Azzolini, Claudio, Simonelli, Francesca

مصطلحات موضوعية: RPE65 gene, Leber Congenital Amaurosi, Early-Onset Severe Retinal Dystrophy, genotype-phenotype correlation

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/35129589; info:eu-repo/semantics/altIdentifier/wos/WOS:000753033400001; volume:63; issue:2; firstpage:1; lastpage:12; numberofpages:12; journal:INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; http://hdl.handle.net/11383/2128137; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85124247105

الاتاحة: http://hdl.handle.net/11383/2128137
https://doi.org/10.1167/iovs.63.2.13

المؤلفون: Varela, Malena Daich, Georgiou, Michalis, Alswaiti, Yahya, Kabbani, Jamil, Fujinami, Kaoru, Fujinami-Yokokawa, Yu, Khoda, Shaheeni, Mahroo, Omar A, Robson, Anthony G, Webster, Andrew R, AlTalbishi, Alaa, Michaelides, Michel

المصدر: American Journal of Ophthalmology (2022) (In press).

مصطلحات موضوعية: CRB1, Early Onset Severe Retinal Dystrophy, LCA, RP, fundus autofluorescence, gene therapy, genotype, macular dystrophy, optical coherence tomography, phenotype, retinal dystrophy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10156028/1/Fujinami_CRB1-associated%20Retinal%20Dystrophies_Pre-proof.pdf; https://discovery.ucl.ac.uk/id/eprint/10156028/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10156028/1/Fujinami_CRB1-associated%20Retinal%20Dystrophies_Pre-proof.pdf
https://discovery.ucl.ac.uk/id/eprint/10156028/

المؤلفون: Daich Varela, Malena, Michaelides, Michel

المصدر: Ophthalmic Genetics pp. 1-6. (2022) (In press).

مصطلحات موضوعية: LCA, RDH12, early onset severe retinal dystrophy, gene therapy, molecular genetics, retinal dystrophy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10147947/1/RDH12%20retinopathy%20clinical%20features%20biology%20genetics%20and%20future%20directions.pdf; https://discovery.ucl.ac.uk/id/eprint/10147947/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10147947/1/RDH12%20retinopathy%20clinical%20features%20biology%20genetics%20and%20future%20directions.pdf
https://discovery.ucl.ac.uk/id/eprint/10147947/

المؤلفون: Georgiou, Michalis, Robson, Anthony G, Fujinami, Kaoru, de Guimarães, Thales AC, Fujinami-Yokokawa, Yu, Daich Varela, Malena, Pontikos, Nikolas, Kalitzeos, Angelos, Mahroo, Omar A, Webster, Andrew R, Michaelides, Michel

المصدر: Progress in Retinal and Eye Research , Article 101244. (2024) (In press).

مصطلحات موضوعية: ABCA4, AIPL1, ATF6, Achromatopsia, Autosomal dominant drusen, BEST1, Best disease, Bietti crystalline dystrophy, Blue-cone monochromatism, Bornholm Eye Disease, CEP290, CNGA3, CNGB3, CRB1, CYP4V2, Cone-rod dystrophies, EFEMP1, Early-onset severe retinal dystrophy, Enhanced S-cone syndrome, FAF, GNAT2, GUCA1A, GUCY2D, LCA, Leber congenital amaurosis, NMNAT1, rod-cone dystrophies, NR2E3, OCT, OPN1LW/OPN1MW

Relation: https://discovery.ucl.ac.uk/id/eprint/10186523/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10186523/

المؤلفون: Smirnov, Vasily, Grunewald, Olivier, Muller, Jean, Zeitz, Christina, Obermaier, Carolin, D, Devos, Aurore, Pelletier, Valérie, Bocquet, Béatrice, Andrieu, Camille, Bacquet, Jean-Louis, Lebredonchel, Elodie, Mohand-Saïd, Saddek, Defoort-Dhellemmes, Sabine, Sahel, José-Alain, Dollfus, Hélène, Zanlonghi, Xavier, Audo, Isabelle, Meunier, Isabelle, Boulanger-Scemama, Elise, Dhaenens, Claire-Marie

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), Lille Neurosciences & Cognition - U 1172 (LilNCog), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), CeGaT GmbH, Toxicologie et Génopathies CHRU Lille, Pôle de Biologie Pathologie Génétique CHU Lille, Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO) et Service de Génétique Médicale, Les Hôpitaux Universitaires de Strasbourg (HUS), CHU Montpellier = Montpellier University Hospital, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier), Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts (CHNO), Sorbonne Université (SU), CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Service d’Exploration de la Vision et Neuro-ophtalmologie CHU Lille, Hôpital Roger Salengro Lille -Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille), Service d'Ophtalmologie Rennes = Ophtalmology Rennes, Centre Hospitalier Universitaire de Rennes CHU Rennes = Rennes University Hospital Pontchaillou, Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Fondation Ophtalmologique Adolphe de Rothschild Paris, ANR-10-LABX-0065,LIFESENSES,DES SENS POUR TOUTE LA VIE(2010)

المصدر: ISSN: 1661-6596.

مصطلحات موضوعية: TTLL5 gene, novel variants, large deletion, cone-rod dystrophy, early onset severe retinal dystrophy, [SDV.GEN]Life Sciences [q-bio]/Genetics

الاتاحة: https://hal.sorbonne-universite.fr/hal-03278573
https://hal.sorbonne-universite.fr/hal-03278573v1/document
https://hal.sorbonne-universite.fr/hal-03278573v1/file/ijms-22-06410.pdf
https://doi.org/10.3390/ijms22126410

المؤلفون: Sandro Banfi, Raffaella Brunetti-Pierri, Vittoria Murro, Enza Maria Valente, Paolo Melillo, Valentina Di Iorio, Francesco Testa, Andrea Sodi, Francesca Simonelli, Marianthi Karali, Sabrina Signorini

المساهمون: Testa, F., Sodi, A., Signorini, S., Di Iorio, V., Murro, V., Brunetti-Pierri, R., Valente, E. M., Karali, M., Melillo, P., Banfi, S., Simonelli, F.

المصدر: Investigative Ophthalmology & Visual Science

مصطلحات موضوعية: 0301 basic medicine, Male, Longitudinal study, Time Factors, genetic structures, DNA Mutational Analysis, Cell Cycle Proteins, Nystagmus, Leber congenital amaurosi, Severity of Illness Index, chemistry.chemical_compound, 0302 clinical medicine, Child, medicine.diagnostic_test, Pedigree, Phenotype, Child, Preschool, Female, medicine.symptom, Erg, Retinal Dystrophies, Tomography, Optical Coherence, Cohort study, medicine.medical_specialty, Adolescent, CEP290 gene, Leber congenital amaurosis, Retina, 03 medical and health sciences, Young Adult, Antigens, Neoplasm, Ophthalmology, retinitis pigmentosa, Severity of illness, medicine, Electroretinography, Humans, business.industry, Retinal, DNA, eye diseases, Cytoskeletal Proteins, 030104 developmental biology, chemistry, Mutation, 030221 ophthalmology & optometry, business, Follow-Up Studies, early onset severe retinal dystrophy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69a7b0d738587f61e2c5bd7926fcddf2
https://pubmed.ncbi.nlm.nih.gov/34196655

المؤلفون: Testa F., Sodi A., Signorini S., Di Iorio V., Murro V., Brunetti-Pierri R., Valente E. M., Karali M., Melillo P., Banfi S., Simonelli F.

المساهمون: Testa, F., Sodi, A., Signorini, S., Di Iorio, V., Murro, V., Brunetti-Pierri, R., Valente, E. M., Karali, M., Melillo, P., Banfi, S., Simonelli, F.

مصطلحات موضوعية: CEP290 gene, Early onset severe retinal dystrophy, Leber congenital amaurosi, Retinitis pigmentosa

وصف الملف: ELETTRONICO

Relation: volume:62; issue:9; firstpage:1; journal:INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; https://hdl.handle.net/11571/1465419; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85110634514

الاتاحة: https://hdl.handle.net/11571/1465419
https://doi.org/10.1167/iovs.62.9.1

المؤلفون: Smirnov, V., Grunewald, O., Muller, J., Zeitz, C., Obermaier, C. D., Devos, A., Pelletier, V., Bocquet, B., Andrieu, C., Bacquet, J. L., Lebredonchel, E., Mohand-Said, S., Defoort-Dhellemmes, S., Sahel, J. A., Dollfus, H., Zanlonghi, X., Audo, I., Meunier, I., Boulanger-Scemama, E., DHAENENS, Claire-Marie

المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172

مصطلحات موضوعية: early onset severe retinal dystrophy, cone-rod dystrophy, large deletion, novel variants, TTLL5 gene

Relation: Int. J. Mol. Sci.; http://hdl.handle.net/20.500.12210/69453

الاتاحة: https://hdl.handle.net/20.500.12210/69453

المؤلفون: Barny, Iris, Perrault, Isabelle, Rio, Marlène, Dollfus, Hélène, Defoort-Dhellemmes, Sabine, Kaplan, Josseline, Rozet, Jean-Michel, Gerard, Xavier

المصدر: Retinal Degenerative Diseases, vol. 1185, pp. 189-195

مصطلحات موضوعية: Basal exon skipping, CEP290, Early-onset severe retinal dystrophy, Hypomorphic variant, Leber congenital amaurosis, Mild retinal dystrophy, Splicing modulation, Spontaneous exon skipping

Relation: info:eu-repo/semantics/altIdentifier/pmid/31884610; info:eu-repo/semantics/altIdentifier/isbn/9783030273774; info:eu-repo/semantics/altIdentifier/isbn/9783030273781; info:eu-repo/semantics/altIdentifier/pissn/0065-2598; info:eu-repo/semantics/altIdentifier/pissn/2214-8019; https://serval.unil.ch/notice/serval:BIB_8F62D9954191

الاتاحة: https://serval.unil.ch/notice/serval:BIB_8F62D9954191
https://doi.org/10.1007/978-3-030-27378-1_31

المؤلفون: Leo, Sheck, Wayne I L, Davies, Phillip, Moradi, Anthony G, Robson, Neruban, Kumaran, Alki C, Liasis, Andrew R, Webster, Anthony T, Moore, Michel, Michaelides

المصدر: Ophthalmology

مصطلحات موضوعية: Adult, Male, genetic structures, Adolescent, DNA Mutational Analysis, Leber Congenital Amaurosis, Visual Acuity, Cell Cycle Proteins, PERG, pattern electroretinogram, Article, CFP, color fundus photography, Antigens, Neoplasm, Electroretinography, Humans, VA, visual acuity, ERG, electroretinogram, Child, Retrospective Studies, FAF, fundus autofluorescence, Clinical Trials as Topic, Optical Imaging, EOSRD, early-onset severe retinal dystrophy, Middle Aged, eye diseases, Introns, LCA, Leber congenital amaurosis, Neoplasm Proteins, Cytoskeletal Proteins, Phenotype, Molecular Diagnostic Techniques, Child, Preschool, Mutation, Female, sense organs, SD, standard deviation, Tomography, Optical Coherence, Follow-Up Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::57182bc1a380047f360c4a4b9014e2a2
https://pubmed.ncbi.nlm.nih.gov/29398085

المؤلفون: Kumaran, Neruban, Moore, Anthony, Weleber, Richard, Michaelides, Michel

المصدر: The British Journal of Ophthalmology
British Journal of Ophthalmology, vol 101, iss 9

مصطلحات موضوعية: Eye Diseases, genetic structures, Genotype, lca, Leber Congenital Amaurosis, review, Review, Drug Therapy, Retinal Dystrophies, Animals, Humans, Eye Proteins, Molecular Biology, eosrd, rtinal rod photoreceptor cells, Eye Diseases, Hereditary, Genetic Therapy, secord, retinal cone photoreceptor cells, (MeSH terms): retinal diseases, gene therapy, eye diseases, Miscellaneous, retinal diseases [(MeSH terms)], Hereditary, Mutation, sense organs, severe early childhood onset retinal dystrophy, early onset severe retinal dystrophy

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::3abb887cd0f5b6566286006b8d18f68b
https://pubmed.ncbi.nlm.nih.gov/31138590

المؤلفون: Testa, F., Murro, V., Signorini, S., Colombo, L., Iarossi, G., Parmeggiani, F., Falsini, Benedetto, Salvetti, A. P., Brunetti-Pierri, R., Aprile, G., Bertone, C., Suppiej, A., Romano, Federica, Karali, M., Donati, S., Melillo, P., Sodi, A., Quaranta, L., Rossetti, Lodovico, Buzzonetti, Luca, Chizzolini, M., Rizzo, Stanislao, Staurenghi, G., Banfi, S., Azzolini, Chiara, Simonelli, F., Falsini B. (ORCID:0000-0002-3569-4968), Romano F., Rossetti L., Buzzonetti L. (ORCID:0000-0002-3200-3260), Rizzo S. (ORCID:0000-0001-6302-063X), Azzolini C. (ORCID:0000-0001-7270-577X)

مصطلحات الفهرس: Early-onset severe retinal dystrophy, Genotype-phenotype correlation, Leber congenital amaurosis, RPE65 gene, Settore MED/30 - MALATTIE APPARATO VISIVO, info:eu-repo/semantics/article

URL: https://hdl.handle.net/10807/248581
info:eu-repo/semantics/altIdentifier/pmid/35129589
volume:63
issue:2
firstpage:13
lastpage:24
numberofpages:12
issueyear:2022
journal:INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE