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Reactivation of CNV after Discontinuation of Bevacizumab Treatment of Age-Related Macular Degeneration.
Published in:
Ophthalmologica, 2021, v. 244, n. 3, p. 200, doi. 10.1159/000514539
By:
- Amarakoon, Sankha;
- Martinez-Ciriano, Jose P.;
- Baarsma, Seerp;
- van den Born, L. Ingeborgh;
- Missotten, Tom
Publication type:
Article
Autosomal recessive retinitis pigmentosa locus maps on chromosome 1q in a large consanguineous family from Pakistan.
Published in:
Clinical Genetics, 1995, v. 47, n. 3, p. 122, doi. 10.1111/j.1399-0004.1995.tb03943.x
By:
- Leutelt, Jutta;
- Oehlmann, Ralph;
- Younus, Farah;
- Born, L. Ingeborgh;
- Weber, James L.;
- Denton, Michael J.;
- Mehdi, S. Qasim;
- Gal, Andreas
Publication type:
Article
Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases.
Published in:
International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6419, doi. 10.3390/ijms22126419
By:
- Reurink, Janine;
- Dockery, Adrian;
- Oziębło, Dominika;
- Farrar, G. Jane;
- Ołdak, Monika;
- ten Brink, Jacoline B.;
- Bergen, Arthur A.;
- Rinne, Tuula;
- Yntema, Helger G.;
- Pennings, Ronald J. E.;
- van den Born, L. Ingeborgh;
- Aben, Marco;
- Oostrik, Jaap;
- Venselaar, Hanka;
- Plomp, Astrid S.;
- Khan, M. Imran;
- van Wijk, Erwin;
- Cremers, Frans P. M.;
- Roosing, Susanne;
- Kremer, Hannie
Publication type:
Article
Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.
Published in:
International Journal of Molecular Sciences, 2018, v. 19, n. 3, p. 753, doi. 10.3390/ijms19030753
By:
- 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
Publication type:
Article
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
Published in:
Nature Genetics, 1999, v. 23, n. 2, p. 217, doi. 10.1038/13848
By:
- den Hollander, Anneke I.;
- ten Brink, Jacoline B.;
- de Kok, Yvette J.M.;
- van Soest, Simone;
- van den Born, L. Ingeborgh;
- van Driel, Marc A.;
- van de Pol, Dorien J.R.;
- Payne, Annette M.;
- Bhattacharya, Shomi S.;
- Kellner, Ulrich;
- Hoyng, Carel B.;
- Westerveld, Andries;
- Brunner, Han G.;
- Bleeker-Wagemakers, Elisabeth M.;
- Deutman, August F.;
- Heckenlively, John R.;
- Cremers, Frans P.M.;
- Bergen, Arthur A.B.
Publication type:
Article
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT).
Published in:
PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0143846
By:
- Scholl, Hendrik P. N.;
- Moore, Anthony T.;
- Koenekoop, Robert K.;
- Wen, Yuquan;
- Fishman, Gerald A.;
- van den Born, L. Ingeborgh;
- Bittner, Ava;
- Bowles, Kristen;
- Fletcher, Emily C.;
- Collison, Frederick T.;
- Dagnelie, Gislin;
- Degli Eposti, Simona;
- Michaelides, Michel;
- Saperstein, David A.;
- Schuchard, Ronald A.;
- Barnes, Claire;
- Zein, Wadih;
- Zobor, Ditta;
- Birch, David G.;
- Mendola, Janine D.
Publication type:
Article
Expression of Wild-Type Rp1 Protein in Rp1 Knock-in Mice Rescues the Retinal Degeneration Phenotype.
Published in:
PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043251
By:
- Qin Liu;
- Collin, Rob W. J.;
- Cremers, Frans P. M.;
- den Hollander, Anneke I.;
- van den Born, L. Ingeborgh;
- Pierce, Eric A.;
- Janecke, Andreas R.
Publication type:
Article
Novel types of mutation in the choroideremia (CHM) gene: a full-length L1 insertion and an intronic mutation activating a cryptic exon.
Published in:
Human Genetics, 2003, v. 113, n. 3, p. 268, doi. 10.1007/s00439-003-0970-0
By:
- van den Hurk, José A. J. M.;
- van de Pol, Dorien J. R.;
- Wissinger, Bernd;
- van Driel, Marc A.;
- Hoefsloot, Lies H.;
- de Wijs, Ilse J.;
- van den Born, L. Ingeborgh;
- Heckenlively, John R.;
- Brunner, Han G.;
- Zrenner, Eberhart;
- Ropers, Hans-Hilger;
- Cremers, Frans P. M.
Publication type:
Article
Whole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases.
Published in:
NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00261-1
By:
- Fadaie, Zeinab;
- Whelan, Laura;
- Ben-Yosef, Tamar;
- Dockery, Adrian;
- Corradi, Zelia;
- Gilissen, Christian;
- Haer-Wigman, Lonneke;
- Corominas, Jordi;
- Astuti, Galuh D. N.;
- de Rooij, Laura;
- van den Born, L. Ingeborgh;
- Klaver, Caroline C. W.;
- Hoyng, Carel B.;
- Wynne, Niamh;
- Duignan, Emma S.;
- Kenna, Paul F.;
- Cremers, Frans P. M.;
- Farrar, G. Jane;
- Roosing, Susanne
Publication type:
Article
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.
Published in:
European Journal of Human Genetics, 2004, v. 12, n. 12, p. 1024, doi. 10.1038/sj.ejhg.5201258
By:
- Klevering, B. Jeroen;
- Yzer, Suzanne;
- Rohrschneider, Klaus;
- Zonneveld, Marijke;
- Allikmets, Rando;
- van den Born, L. Ingeborgh;
- Maugeri, Alessandra;
- Hoyng, Carel B.;
- Cremers, Frans P. M.
Publication type:
Article
ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum.
Published in:
European Journal of Human Genetics, 2003, v. 11, n. 3, p. 215, doi. 10.1038/sj.ejhg.5200953
By:
- Hu, Xiaofeng;
- Plomp, Astrid;
- Wijnholds, Jan;
- ten Brink, Jacoline;
- van Soest, Simone;
- van den Born, L Ingeborgh;
- Leys, Anita;
- Peek, Ron;
- de Jong, Paulus T V M;
- Bergen, Arthur A B
Publication type:
Article
Representation of Women Among Individuals With Mild Variants in ABCA4-Associated Retinopathy: A Meta-Analysis.
Published in:
JAMA Ophthalmology, 2024, v. 142, n. 5, p. 463, doi. 10.1001/jamaophthalmol.2024.0660
By:
- Cornelis, Stéphanie S.;
- IntHout, Joanna;
- Runhart, Esmee H.;
- Grunewald, Olivier;
- Lin, Siying;
- Corradi, Zelia;
- Khan, Mubeen;
- Hitti-Malin, Rebekkah J.;
- Whelan, Laura;
- Farrar, G. Jane;
- Sharon, Dror;
- van den Born, L. Ingeborgh;
- Arno, Gavin;
- Simcoe, Mark;
- Michaelides, Michel;
- Webster, Andrew R.;
- Roosing, Susanne;
- Mahroo, Omar A.;
- Dhaenens, Claire-Marie;
- Cremers, Frans P. M.
Publication type:
Article
Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a 2-Year Follow-Up Multinational Survey by the European Vision Institute Clinical Research Network – EVICR.net.
Published in:
Ophthalmic Research, 2023, v. 66, n. 1, p. 550, doi. 10.1159/000528716
By:
- Lorenz, Birgit;
- Tavares, Joana;
- van den Born, L. Ingeborgh;
- Marques, João Pedro;
- Pilotto, Elisabetta;
- Stingl, Katarina;
- Charbel Issa, Peter;
- Leroux, Dorothée;
- Dollfus, Hélène;
- Scholl, Hendrik P.N.
Publication type:
Article
Current Management of Patients with RPE65 Mutation-Associated Inherited Retinal Degenerations in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.
Published in:
Ophthalmic Research, 2021, v. 64, n. 5, p. 740, doi. 10.1159/000515688
By:
- Lorenz, Birgit;
- Tavares, Joana;
- van den Born, L. Ingeborgh;
- Marques, João P.;
- Scholl, Hendrik P.N.
Publication type:
Article
Current Management of Inherited Retinal Degeneration Patients in Europe: Results of a Multinational Survey by the European Vision Institute Clinical Research Network.
Published in:
Ophthalmic Research, 2021, v. 10, p. 622, doi. 10.1159/000514540
By:
- Lorenz, Birgit;
- Tavares, Joana;
- van den Born, L. Ingeborgh;
- Marques, João P.;
- Scholl, Hendrik P. N.
Publication type:
Article
Transcorneal Electrical Stimulation for the Treatment of Retinitis Pigmentosa: A Multicenter Safety Study of the OkuStim® System (TESOLA-Study).
Published in:
Ophthalmic Research, 2020, v. 63, n. 3, p. 234, doi. 10.1159/000505001
By:
- Jolly, Jasleen K.;
- Wagner, Siegfried K.;
- Martus, Peter;
- MacLaren, Robert E.;
- Wilhelm, Barbara;
- Webster, Andrew R.;
- Downes, Susan M.;
- Charbel Issa, Peter;
- Kellner, Ulrich;
- Jägle, Herbert;
- Rüther, Klaus;
- Bertelsen, Mette;
- Bragadóttir, Ragnheiður;
- Prener Holtan, Josephine;
- van den Born, L. Ingeborgh;
- Sodi, Andrea;
- Virgili, Gianni;
- Gosheva, Mariya;
- Pach, Johanna;
- Zündorf, Ida
Publication type:
Article
Mutations in IFT172 cause isolated retinal degeneration and Bardet–Biedl syndrome.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 1, p. 230, doi. 10.1093/hmg/ddu441
By:
- Bujakowska, Kinga M.;
- Qi Zhang;
- Siemiatkowska, Anna M.;
- Qin Liu;
- Place, Emily;
- Falk, Marni J.;
- Consugar, Mark;
- Lancelot, Marie-Elise;
- Antonio, Aline;
- Lonjou, Christine;
- Carpentier, Wassila;
- Mohand-Saïd, Saddek;
- den Hollander, Anneke I.;
- Cremers, Frans P. M.;
- Leroy, Bart P.;
- Xiaowu Gai;
- Sahel, José-Alain;
- van den Born, L. Ingeborgh;
- Collin, Rob W. J.;
- Zeitz, Christina
Publication type:
Article
Quality of life in patients with CRB1‐associated retinal dystrophies: A longitudinal study.
Published in:
Acta Ophthalmologica (1755375X), 2024, v. 102, n. 4, p. 469, doi. 10.1111/aos.15769
By:
- Karuntu, Jessica S.;
- Nguyen, Xuan‐Thanh‐An;
- Talib, Mays;
- van Schooneveld, Mary J.;
- Wijnholds, Jan;
- van Genderen, Maria M.;
- Schalij‐Delfos, Nicoline E.;
- Klaver, Caroline C. W.;
- Meester‐Smoor, Magda A.;
- van den Born, L. Ingeborgh;
- Hoyng, Carel B.;
- Thiadens, Alberta A. H. J.;
- Bergen, Arthur A.;
- van Nispen, Ruth M. A.;
- Boon, Camiel J. F.
Publication type:
Article
Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies.
Published in:
Acta Ophthalmologica (1755375X), 2021, v. 99, n. 3, p. e402, doi. 10.1111/aos.14597
By:
- Talib, Mays;
- Schooneveld, Mary J.;
- Wijnholds, Jan;
- Genderen, Maria M.;
- Schalij‐Delfos, Nicoline E.;
- Talsma, Herman E.;
- Florijn, Ralph J.;
- Brink, Jacoline B.;
- Cremers, Frans P.M.;
- Thiadens, Alberta A.H.J.;
- Born, L. Ingeborgh;
- Hoyng, Carel B.;
- Meester‐Smoor, Magda A.;
- Bergen, Arthur A.;
- Boon, Camiel J.F.
Publication type:
Article
Bevacizumab in age‐related macular degeneration: a randomized controlled trial on the effect of on‐demand therapy every 4 or 8 weeks.
Published in:
Acta Ophthalmologica (1755375X), 2019, v. 97, n. 1, p. 107, doi. 10.1111/aos.13774
By:
- Amarakoon, Sankha;
- Martinez‐Ciriano, José P.;
- Born, L. Ingeborgh;
- Baarsma, Seerp;
- Missotten, Tom
Publication type:
Article
Retinitis pigmentosa caused by mutations in the ciliary MAK gene is relatively mild and is not associated with apparent extra-ocular features.
Published in:
Acta Ophthalmologica (1755375X), 2015, v. 93, n. 1, p. 83, doi. 10.1111/aos.12500
By:
- Huet, Ramon A. C.;
- Siemiatkowska, Anna M.;
- Özgül, Riza K.;
- Yücel, Didem;
- Hoyng, Carel B.;
- Banin, Eyal;
- Blumenfeld, Anat;
- Rotenstreich, Ygal;
- Riemslag, Frans C. C.;
- Hollander, Anneke I.;
- Theelen, Thomas;
- Collin, Rob W. J.;
- Born, L. Ingeborgh;
- Klevering, B. Jeroen
Publication type:
Article
Bevacizumab in age-related macular degeneration: a randomized controlled trial on the effect of injections every 4 weeks, 6 weeks and 8 weeks.
Published in:
Acta Ophthalmologica (1755375X), 2013, v. 91, n. 6, p. e456, doi. 10.1111/aos.12119
By:
- Lushchyk, Tanya;
- Amarakoon, Sankha;
- Martinez‐Ciriano, José P.;
- van den Born, L. Ingeborgh;
- Baarsma, G. Seerp;
- Missotten, Tom
Publication type:
Article
A randomized clinical trial comparing prompt photodynamic therapy with 3 months observation in patients with acute central serous chorioretinopathy with central macular leakage.
Published in:
European Journal of Ophthalmology, 2021, v. 31, n. 3, p. 1248, doi. 10.1177/1120672120915168
By:
- Missotten, Tom OAR;
- Hoddenbach, Johan G;
- Eenhorst, Christine AE;
- van den Born, L Ingeborgh;
- Martinez Ciriano, José P;
- Wubbels, René J
Publication type:
Article
PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease.
Published in:
Human Mutation, 2021, v. 42, n. 12, p. 1521, doi. 10.1002/humu.24275
By:
- Peeters, Manon H. C. A;
- Khan, Mubeen;
- Rooijakkers, Anoek A. M. B;
- Mulders, Timo;
- Haer‐Wigman, Lonneke;
- Boon, Camiel J. F.;
- Klaver, Caroline C. W.;
- van den Born, L. Ingeborgh;
- Hoyng, Carel B.;
- Cremers, Frans P. M.;
- den Hollander, Anneke I.;
- Dhaenens, Claire‐Marie;
- Collin, Rob W. J.
Publication type:
Article
Heterozygous Deep-Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant.
Published in:
Human Mutation, 2015, v. 36, n. 1, p. 43, doi. 10.1002/humu.22717
By:
- 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.
Publication type:
Article
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.
Published in:
Human Mutation, 2014, v. 35, n. 1, p. 150, doi. 10.1002/humu.22467
By:
- 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;
- Andreasson, [Sten;
- Baere, Elfride;
- Bennett, Jean;
- Chader, Gerald J.;
- Berger, Wolfgang
Publication type:
Article
Screening of a Large Cohort of Leber Congenital Amaurosis and Retinitis Pigmentosa Patients Identifies Novel LCA5 Mutations and New Genotype-Phenotype Correlations.
Published in:
Human Mutation, 2013, v. 34, n. 11, p. 1537, doi. 10.1002/humu.22398
By:
- 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;
- Andreasson, Sten;
- Baere, Elfride;
- Bennett, Jean;
- Chader, Gerald J.;
- Berger, Wolfgang
Publication type:
Article
Next Generation Genetic Testing for Retinitis Pigmentosa.
Published in:
Human Mutation, 2013, v. 34, n. 8, p. 1181, doi. 10.1002/humu.22357
By:
- Neveling, Kornelia;
- Collin, Rob W.J.;
- Gilissen, Christian;
- Huet, Ramon A.C.;
- Visser, Linda;
- Kwint, Michael P.;
- Gijsen, Sabine J.;
- Zonneveld, Marijke N.;
- Wieskamp, Nienke;
- Ligt, Joep;
- Siemiatkowska, Anna M.;
- Hoefsloot, Lies H.;
- Buckley, Michael F.;
- Kellner, Ulrich;
- Branham, Kari E.;
- den Hollander, Anneke I.;
- Hoischen, Alexander;
- Hoyng, Carel;
- Klevering, B. Jeroen;
- Born, L. Ingeborgh
Publication type:
Article
CRB1 mutation spectrum in inherited retinal dystrophies.
Published in:
Human Mutation, 2004, v. 24, n. 5, p. 355, doi. 10.1002/humu.20093
By:
- den Hollander, Anneke I.;
- Davis, Jason;
- van der Velde-Visser, Saskia D.;
- Zonneveld, Marijke N.;
- Pierrottet, Chiara O.;
- Koenekoop, Robert K.;
- Kellner, Ulrich;
- van den Born, L. Ingeborgh;
- Heckenlively, John R.;
- Hoyng, Carel B.;
- Handford, Penny A.;
- Roepman, Ronald;
- Cremers, Frans P.M.
Publication type:
Article
Correction: Littink, K.W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68.
Published in:
2018
By:
- Littink, Karin W.;
- Stappers, Patricia T.Y.;
- Riemslag, Frans C.C.;
- Talsma, Herman E.;
- van Genderen, Maria M.;
- Cremers, Frans P.M.;
- Collin, Rob W.J.;
- van den Born, L. Ingeborgh
Publication type:
Correction Notice
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome.
Published in:
Genes, 2018, v. 9, n. 2, p. 68, doi. 10.3390/genes9020068
By:
- Littink, Karin W.;
- Stappers, Patricia T. Y.;
- Riemslag, Frans C. C.;
- Talsma, Herman E.;
- van Genderen, Maria M.;
- Cremers, Frans P. M.;
- Collin, Rob W. J.;
- van den Born, L. Ingeborgh
Publication type:
Article
Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.
Published in:
Genes, 2018, v. 9, n. 1, p. 21, doi. 10.3390/genes9010021
By:
- Astuti, Galuh D. N.;
- van den Born, L. Ingeborgh;
- Khan, M. Imran;
- Hamel, Christian P.;
- Bocquet, Béatrice;
- Manes, Gaël;
- Quinodoz, Mathieu;
- Ali, Manir;
- Toomes, Carmel;
- McKibbin, Martin;
- El-Asrag, Mohammed E.;
- Haer-Wigman, Lonneke;
- Inglehearn, Chris F.;
- Black, Graeme C. M.;
- Hoyng, Carel B.;
- Cremers, Frans P. M.;
- Roosing, Susanne
Publication type:
Article
A Rare Form of Retinal Dystrophy Caused by Hypomorphic Nonsense Mutations in CEP290.
Published in:
Genes, 2017, v. 8, n. 8, p. 208, doi. 10.3390/genes8080208
By:
- Roosing, Susanne;
- Cremers, Frans P. M.;
- Riemslag, Frans C. C.;
- Zonneveld-Vrieling, Marijke N.;
- Talsma, Herman E.;
- Klessens-Godfroy, Francoise J. M.;
- den Hollander, Anneke I.;
- van den Born, L. Ingeborgh
Publication type:
Article

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