المؤلفون: Suárez-Herrera, Nuria, Leijsten, Nico, Albert, Silvia, Bax, Nathalie M., Hoyng, Carel B., Cremers, Frans P.M., Garanto, Alejandro, Collin, Rob W.J.

المساهمون: Foundation Fighting Blindness, Horizon 2020 Framework Programme, European Commission

المصدر: Stem Cell Research ; volume 73, page 103252 ; ISSN 1873-5061

الاتاحة: http://dx.doi.org/10.1016/j.scr.2023.103252
https://api.elsevier.com/content/article/PII:S1873506123002386?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S1873506123002386?httpAccept=text/plain

المؤلفون: Lambertus, Stanley, Bax, Nathalie M, Fakin, Ana, Groenewoud, Joannes MM, Klevering, B Jeroen, Moore, Anthony T, Michaelides, Michel, Webster, Andrew R, van der Wilt, Gert Jan, Hoyng, Carel B

المصدر: PLOS ONE. 12(3)

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Macular Degeneration, Brain Disorders, Rare Diseases, Neurosciences, Neurodegenerative, Eye Disease and Disorders of Vision, Clinical Research, 4.1 Discovery and preclinical testing of markers and technologies, 5.1 Pharmaceuticals, Detection, screening and diagnosis, Development of treatments and therapeutic interventions, Eye, ATP-Binding Cassette Transporters, Adolescent, Adult, Age of Onset, Child, Child, Preschool, Disease Progression, Endpoint Determination, Female, Fluorescein Angiography, Gene Expression, Humans, Longitudinal Studies, Male, Models, Genetic, Polymorphism, Genetic, Randomized Controlled Trials as Topic, Retina, Stargardt Disease, Tomography, Optical Coherence, General Science & Technology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/9806q4kx
https://escholarship.org/content/qt9806q4kx/qt9806q4kx.pdf

المؤلفون: Khan, Mubeen, Arno, Gavin, Fakin, Ana, Parfitt, David A., Dhooge, Patty P.A., Albert, Silvia, Bax, Nathalie M., Duijkers, Lonneke, Niblock, Michael, Hau, Kwan L., Bloch, Edward, Schiff, Elena R., Piccolo, Davide, Hogden, Michael C., Hoyng, Carel B., Webster, Andrew R., Cremers, Frans P.M., Cheetham, Michael E., Garanto, Alejandro, Collin, Rob W.J.

المساهمون: Algemene Nederlandse Vereniging ter Voorkoming van Blindheid, Stichting Blinden-Penning, Landelijke Stichting voor Blinden en Slechtzienden, Stichting Oogfonds Nederland, Stichting Macula Degeneratie Fonds, Stichting Retina Nederland Fonds, Rotterdamse Stichting Blindenbelangen, Stichting Blindenhulp, Stichting tot Verbetering van het Lot der Blinden, Stichting voor Ooglijders, Stichting Dowilvo, Foundation Fighting Blindness USA, Retina UK, European Union, Marie Curie Sklodowska Action Initial Training Network StarT, National Institute for Health Research, Biomedical Research Centre at Moorfields Eye Hospital, UCL Institute of Ophthalmology, NIHR BioResource, Fight For Sight, NIHR Great Ormond Street Hospital Biomedical Research Centre at Great Ormond Street Institute of Child Health, The Wellcome Trust, Moorfields Eye Charity, NIHR Bioresource Translational Research Consortium for Rare Disease

المصدر: Molecular Therapy - Nucleic Acids ; volume 21, page 412-427 ; ISSN 2162-2531

الاتاحة: http://dx.doi.org/10.1016/j.omtn.2020.06.007
https://api.elsevier.com/content/article/PII:S2162253120301682?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2162253120301682?httpAccept=text/plain

المؤلفون: Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stephanie S., Verheij, Joke B. G. M., Pott, Jan-Willem R., Thiadens, Alberta A. H. J., Klaver, Caroline C. W., Puech, Bernard, Meunier, Isabelle, Naessens, Sarah, Arno, Gavin, Fakin, Ana, Carss, Keren J., Raymond, F. Lucy, Webster, Andrew R., Dhaenens, Claire-Marie, Stoehr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W. J., Cremers, Frans P. M.

المصدر: Sangermano , R , Garanto , A , Khan , M , Runhart , E H , Bauwens , M , Bax , N M , van den Born , L I , Khan , M I , Cornelis , S S , Verheij , J B G M , Pott , J-W R , Thiadens , A A H J , Klaver , C C W , Puech , B , Meunier , I , Naessens , S , Arno , G , Fakin , A , Carss , K J , Raymond , F L , Webster ....

مصطلحات موضوعية: ABCA4, antisense oligonucleotide, deep-intronic variant, missing heritability, Stargardt disease, IN-VITRO, MUTATIONS, GENE, REVEALS, POPULATION

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/386f4d11-1245-4302-a23d-5c93a548431d
https://research.rug.nl/en/publications/386f4d11-1245-4302-a23d-5c93a548431d
https://doi.org/10.1038/s41436-018-0414-9
https://pure.rug.nl/ws/files/97347699/Lee_et_al_2019_British_Journal_of_Dermatology.pdf

المؤلفون: Runhart, Esmee H., Valkenburg, Dyon, Cornelis, Stephanie S., Khan, Mubeen, Sangermano, Riccardo, Albert, Silvia, Bax, Nathalie M., Astuti, Galuh D. N., Gilissen, Christian, Pott, Jan-Willem R., Verheij, Joke B. G. M., Blokland, Ellen A. W., Cremers, Frans P. M., van den Born, L. Ingeborgh, Hoyng, Carel B.

المصدر: Runhart , E H , Valkenburg , D , Cornelis , S S , Khan , M , Sangermano , R , Albert , S , Bax , N M , Astuti , G D N , Gilissen , C , Pott , J-W R , Verheij , J B G M , Blokland , E A W , Cremers , F P M , van den Born , L I & Hoyng , C B 2019 , ' Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles ' , Investigative ophthalmology & visual science , vol. 60 , ....

مصطلحات موضوعية: Stargardt disease, ABCA4, disease expression, penetrance, differential diagnosis, RETINAL-PIGMENT EPITHELIUM, P.ASN1868ILE ALLELE, MOUSE MODEL, AUTOFLUORESCENCE, NONPENETRANCE

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/cd3c02c0-39e7-43fb-b30a-8a48fdecccec
https://research.rug.nl/en/publications/cd3c02c0-39e7-43fb-b30a-8a48fdecccec
https://doi.org/10.1167/iovs.19-27524
https://pure.rug.nl/ws/files/101943983/i1552_5783_60_13_4249.pdf

المؤلفون: Bax, Nathalie M., Lambertus, Stanley, Cremers, Frans P. M., Klevering, B. Jeroen, Hoyng, Carel B.

المساهمون: Stichting A.F. Deutman Oogheelkunde Researchfonds, Nederlandse Oogonderzoek Stichting, UitZicht

المصدر: Graefe's Archive for Clinical and Experimental Ophthalmology ; volume 257, issue 6, page 1147-1157 ; ISSN 0721-832X 1435-702X

الاتاحة: http://dx.doi.org/10.1007/s00417-019-04280-8
http://link.springer.com/content/pdf/10.1007/s00417-019-04280-8.pdf
http://link.springer.com/article/10.1007/s00417-019-04280-8/fulltext.html

المؤلفون: Runhart, Esmee H., Sangermano, Riccardo, Cornelis, Stephanie S., Verheij, Joke B. G. M., Plomp, Astrid S., Boon, Camiel J. F., Lugtenberg, Dorien, Roosing, Susanne, Bax, Nathalie M., Blokland, Ellen A. W., Jacobs-Camps, Marlie H. M., van der Velde-Visser, Saskia D., Pott, Jan-Willem R., Rohrschneider, Klaus, Thiadens, Alberta A. H. J., Klaver, Caroline C. W., van den Born, L. Ingeborgh, Hoyng, Carel B., Cremers, Frans P. M.

المصدر: Runhart , E H , Sangermano , R , Cornelis , S S , Verheij , J B G M , Plomp , A S , Boon , C J F , Lugtenberg , D , Roosing , S , Bax , N M , Blokland , E A W , Jacobs-Camps , M H M , van der Velde-Visser , S D , Pott , J-W R , Rohrschneider , K , Thiadens , A A H J , Klaver , C C W , van den Born , L I , Hoyng , C B & Cremers ....

مصطلحات موضوعية: ABCA4 protein, nonpenetrance, modifiers, Stargardt disease, retinal dystrophy, CONE-ROD DYSTROPHY, DEEP-INTRONIC VARIANTS, RETINITIS-PIGMENTOSA, GENE ABCR, MUTATION, PROGRESSION, PHENOTYPES, REVEALS

وصف الملف: application/pdf

الاتاحة: https://hdl.handle.net/11370/7a83806d-5e43-41d2-943f-71109abdfc15
https://research.rug.nl/en/publications/7a83806d-5e43-41d2-943f-71109abdfc15
https://doi.org/10.1167/iovs.18-23881
https://pure.rug.nl/ws/files/75678852/i1552_5783_59_8_3220.pdf

المؤلفون: Albert, Silvia, Garanto, Alejandro, Sangermano, Riccardo, Khan, Mubeen, Bax, Nathalie M., Hoyng, Carel B., Zernant, Jana, Lee, Winston, Allikmets, Rando, Collin, Rob W.J., Cremers, Frans P.M.

المصدر: The American Journal of Human Genetics ; volume 102, issue 4, page 517-527 ; ISSN 0002-9297

الاتاحة: http://dx.doi.org/10.1016/j.ajhg.2018.02.008
https://api.elsevier.com/content/article/PII:S0002929718300533?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0002929718300533?httpAccept=text/plain

المؤلفون: Dhooge, Patty P. A., Teunisse, Rob J., Liefers, Bart, Lambertus, Stanley, Bax, Nathalie M., Hoyng, Carel B., Cruysberg, Johannes R. M., Klevering, B. Jeroen

المصدر: British Journal of Ophthalmology; Feb2023, Vol. 107 Issue 2, p248-253, 6p

المؤلفون: Dhooge, Patty P A, Teunisse, Rob J, Liefers, Bart, Lambertus, Stanley, Bax, Nathalie M, Hoyng, Carel B, Cruysberg, Johannes R M, Klevering, B Jeroen

المساهمون: Stichting A.F. Deutman Oogheelkunde Researchfonds

المصدر: British Journal of Ophthalmology ; volume 107, issue 2, page 248-253 ; ISSN 0007-1161 1468-2079

الاتاحة: http://dx.doi.org/10.1136/bjophthalmol-2021-319525
https://syndication.highwire.org/content/doi/10.1136/bjophthalmol-2021-319525

المؤلفون: Valkenburg, Dyon, Runhart, Esmee H., Bax, Nathalie M., Liefers, Bart, Lambertus, Stanley L., Sánchez, Clara I., Cremers, Frans P.M., Hoyng, Carel B.

المساهمون: Stichting A.F. Deutman Oogheelkunde Researchfonds, Foundation Fighting Blindness

المصدر: Ophthalmology ; volume 126, issue 12, page 1712-1721 ; ISSN 0161-6420

الاتاحة: http://dx.doi.org/10.1016/j.ophtha.2019.07.010
https://api.elsevier.com/content/article/PII:S0161642019306578?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S0161642019306578?httpAccept=text/plain

المؤلفون: Hoyng, Carel B., Lambertus, Stanley, Bax, Nathalie M.

المصدر: Macular Dystrophies ; page 25-30 ; ISBN 9783319266190 9783319266213

الاتاحة: http://dx.doi.org/10.1007/978-3-319-26621-3_3
http://link.springer.com/content/pdf/10.1007/978-3-319-26621-3_3

المؤلفون: Hendriks, Michelle, Verhoeven, Virginie J M, Buitendijk, Gabriëlle H.S., Polling, Jan Roelof, Meester-Smoor, Magda A., Hofman, Albert, van Huet, Ramon A C, Klevering, B Jeroen, Bax, Nathalie M., Lambertus, Stanley, Klaver, Caroline C W, Hoyng, Carel B., Oomen, Clasien J, van Zelst-Stams, Wendy A. G., Cremers, Frans Pm, Plomp, Astrid S, van Schooneveld, Mary J., van Genderen, Mies M., Schuil, José, Boonstra, F Nienke, Schlingemann, Reinier O, Bergen, Arthur A., Pierrache, Laurence, Meester-Smoor, Magda, van den Born, L Ingeborgh, Boon, Camiel J.F., Pott, Jan W.R., van Leeuwen, Redmer, Kroes, Hester Y., de Jong-Hesse, Yvonne, Kamermans, Maarten, Ingeborgh van den Born, L., RD5000 Consortium

مصطلحات موضوعية: Ophthalmology, Journal Article

وصف الملف: image/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od_____10691::91d289f97820fb38844f7f82264233b3
https://dspace.library.uu.nl/handle/1874/355482

المؤلفون: Cornelis, Stéphanie S., Bax, Nathalie M., Zernant, Jana, Allikmets, Rando, Fritsche, Lars G., den Dunnen, Johan T., Ajmal, Muhammad, Hoyng, Carel B., Cremers, Frans P.M.

المساهمون: ProRetina, Christina Fasser

المصدر: Human Mutation ; volume 38, issue 4, page 400-408 ; ISSN 1059-7794

الاتاحة: http://dx.doi.org/10.1002/humu.23165
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1002%2Fhumu.23165
https://onlinelibrary.wiley.com/doi/full/10.1002/humu.23165

المؤلفون: Sangermano, Riccardo, Bax, Nathalie M., Bauwens, Miriam, van den Born, L. Ingeborgh, De Baere, Elfride, Garanto, Alejandro, Collin, Rob W.J., Goercharn-Ramlal, Angelique S.A., den Engelsman-van Dijk, Anke H.A., Rohrschneider, Klaus, Hoyng, Carel B., Cremers, Frans P.M., Albert, Silvia

المصدر: Ophthalmology ; volume 123, issue 6, page 1375-1385 ; ISSN 0161-6420

الاتاحة: http://dx.doi.org/10.1016/j.ophtha.2016.01.053
https://api.elsevier.com/content/article/PII:S0161642016001597?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S0161642016001597?httpAccept=text/xml

المؤلفون: MS Oogheelkunde, Infection & Immunity, Genetica Klinische Genetica, Child Health, Hendriks, Michelle, Verhoeven, Virginie J M, Buitendijk, Gabriëlle H.S., Polling, Jan Roelof, Meester-Smoor, Magda A., Hofman, Albert, van Huet, Ramon A C, Klevering, B Jeroen, Bax, Nathalie M., Lambertus, Stanley, Klaver, Caroline C W, Hoyng, Carel B., Oomen, Clasien J, van Zelst-Stams, Wendy A. G., Cremers, Frans Pm, Plomp, Astrid S, van Schooneveld, Mary J., van Genderen, Mies M., Schuil, José, Boonstra, F Nienke, Schlingemann, Reinier O, Bergen, Arthur A., Pierrache, Laurence, Meester-Smoor, Magda, van den Born, L Ingeborgh, Boon, Camiel J.F., Pott, Jan W.R., van Leeuwen, Redmer, Kroes, Hester Y., de Jong-Hesse, Yvonne, Kamermans, Maarten, Ingeborgh van den Born, L., RD5000 Consortium

URL: https://doi.org/10.1016/j.ajo.2017.07.008
http://hdl.handle.net/1874/355482
https://dspace.library.uu.nl/handle/1874/355482
http://www.scopus.com/inward/record.url?scp=85028319646&partnerID=8YFLogxK
0002-9394
American Journal of Ophthalmology
182
81
89

المؤلفون: Lambertus, Stanley, van Huet, Ramon A.C., Bax, Nathalie M., Hoefsloot, Lies H., Cremers, Frans P.M., Boon, Camiel J.F., Klevering, B. Jeroen, Hoyng, Carel B.

المساهمون: Nederlandse Oogonderzoek Stichting, Stichting A.F. Deutman Oogheelkunde Researchfonds

المصدر: Ophthalmology ; volume 122, issue 2, page 335-344 ; ISSN 0161-6420

الاتاحة: http://dx.doi.org/10.1016/j.ophtha.2014.08.032
https://api.elsevier.com/content/article/PII:S016164201400791X?httpAccept=text/plain
https://api.elsevier.com/content/article/PII:S016164201400791X?httpAccept=text/xml

المؤلفون: Duijkers, Lonneke, van den Born, L. Ingeborgh, Neidhardt, John, Bax, Nathalie M., Pierrache, Laurence H. M., Klevering, B. Jeroen, Collin, Rob W. J., Garanto, Alejandro

المصدر: International Journal of Molecular Sciences; Mar2018, Vol. 19 Issue 3, preceding p753, 13p, 1 Color Photograph, 1 Diagram, 1 Chart, 2 Graphs

مصطلحات موضوعية: LEBER'S congenital amaurosis, RNA splicing, HETEROZYGOSITY, GENE expression, PROTEINS, THERAPEUTICS

المؤلفون: Haer-Wigman, Lonneke, Newman, Hadas, Leibu, Rina, Bax, Nathalie M., Baris, Hagit N., Rizel, Leah, Banin, Eyal, Massarweh, Amir, Roosing, Susanne, Lefeber, Dirk J., Zonneveld-Vrieling, Marijke N., Isakov, Ofer, Shomron, Noam, Sharon, Dror, Den Hollander, Anneke I., Hoyng, Carel B., Cremers, Frans P. M., Ben-Yosef, Tamar

المصدر: Human Molecular Genetics; 7/1/2015, Vol. 24 Issue 13, p3742-3751, 10p

المؤلفون: Bax, Nathalie M., Sangermano, Riccardo, Roosing, Susanne, Thiadens, Alberta A.H.J., Hoefsloot, Lies H., den Born, L. Ingeborgh, Phan, Milan, Klevering, B. Jeroen, Westeneng‐van Haaften, Carla, Braun, Terry A., Zonneveld‐Vrieling, Marijke N., Wijs, Ilse, Mutlu, Merve, Stone, Edwin M., den Hollander, Anneke I., Klaver, Caroline C.W., Hoyng, Carel B., Cremers, Frans P.M.

المصدر: Human Mutation; Jan2015, Vol. 36 Issue 1, p43-47, 5p