OpenURL Connection Search

Select item for more details and to access through your institution.

Major Predictive Factors for Progression of Early to Late Age-Related Macular Degeneration.
Published in:
Ophthalmologica, 2020, v. 243, n. 6, p. 444, doi. 10.1159/000507196
By:
- Sitnilska, Vasilena;
- Kersten, Eveline;
- Altay, Lebriz;
- Schick, Tina;
- Enders, Philip;
- de Jong, Eiko K.;
- Langmann, Thomas;
- Hoyng, Carel B.;
- den Hollander, Anneke I.;
- Fauser, Sascha
Publication type:
Article
A Prospective, Comparative, Observational Study on Optical Coherence Tomography of the Anterior Eye Segment.
Published in:
Ophthalmologica, 2013, v. 230, n. 4, p. 222, doi. 10.1159/000354114
By:
- Theelen, Thomas;
- Hoyng, Carel B.
Publication type:
Article
Corrigendum to “Nutritional Risk Factors for Age-Related Macular Degeneration”.
Published in:
BioMed Research International, 2016, v. 2016, p. 1, doi. 10.1155/2016/7589328
By:
- Ersoy, Lebriz;
- Ristau, Tina;
- Lechanteur, Yara T.;
- Hahn, Moritz;
- Hoyng, Carel B.;
- Kirchhof, Bernd;
- Hollander, Anneke I. den;
- Fauser, Sascha
Publication type:
Article
Semi-Quantitative Multiplex Profiling of the Complement System Identifies Associations of Complement Proteins with Genetic Variants and Metabolites in Age-Related Macular Degeneration.
Published in:
Journal of Personalized Medicine, 2021, v. 11, n. 12, p. 1256, doi. 10.3390/jpm11121256
By:
- Acar, I. Erkin;
- Willems, Esther;
- Kersten, Eveline;
- Keizer-Garritsen, Jenneke;
- Kragt, Else;
- Bakker, Bjorn;
- Galesloot, Tessel E.;
- Hoyng, Carel B.;
- Fauser, Sascha;
- van Gool, Alain J.;
- Lechanteur, Yara T. E.;
- Koertvely, Elod;
- Nogoceke, Everson;
- Gloerich, Jolein;
- de Jonge, Marien I.;
- Lorés-Motta, Laura;
- den Hollander, Anneke I.
Publication type:
Article
Systemic Metabolomics in a Framework of Genetics and Lifestyle in Age-Related Macular Degeneration.
Published in:
Metabolites (2218-1989), 2023, v. 13, n. 6, p. 701, doi. 10.3390/metabo13060701
By:
- Thee, Eric F.;
- Acar, İlhan E.;
- Colijn, Johanna M.;
- Meester-Smoor, Magda A.;
- Verzijden, Timo;
- Baart, Sara J.;
- Jarboui, Mohamed A.;
- Fauser, Sascha;
- Hoyng, Carel B.;
- Ueffing, Marius;
- den Hollander, Anneke I.;
- Klaver, Caroline C. W.
Publication type:
Article
Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.
Published in:
Frontiers in Immunology, 2022, v. 12, p. 1, doi. 10.3389/fimmu.2021.789897
By:
- de Jong, Sarah;
- de Breuk, Anita;
- Bakker, Bjorn;
- Katti, Suresh;
- Hoyng, Carel B.;
- Nilsson, Sara C.;
- Blom, Anna M.;
- van den Heuvel, Lambert P.;
- den Hollander, Anneke I.;
- Volokhina, Elena B.
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
GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration.
Published in:
Scientific Reports, 2016, p. 37924, doi. 10.1038/srep37924
By:
- Riaz, Moeen;
- Lorés-Motta, Laura;
- Richardson, Andrea J.;
- Lu, Yi;
- Montgomery, Grant;
- Omar, Amer;
- Koenekoop, Robert K.;
- Chen, John;
- Muether, Philipp;
- Altay, Lebriz;
- Schick, Tina;
- Fauser, Sascha;
- Smailhodzic, Dzenita;
- van Asten, Freekje;
- de Jong, Eiko K.;
- Hoyng, Carel B.;
- Burdon, Kathryn P.;
- MacGregor, Stuart;
- Guymer, Robyn H.;
- den Hollander, Anneke I.
Publication type:
Article
A Novel Complotype Combination Associates with Age-Related Macular Degeneration and High Complement Activation Levels in vivo.
Published in:
Scientific Reports, 2016, p. 26568, doi. 10.1038/srep26568
By:
- Paun, Constantin C.;
- Lechanteur, Yara T. E.;
- Groenewoud, Joannes M. M.;
- Altay, Lebriz;
- Schick, Tina;
- Daha, Mohamed R.;
- Fauser, Sascha;
- Hoyng, Carel B.;
- den Hollander, Anneke I.;
- de Jong, Eiko K.
Publication type:
Article
Zinc Supplementation Inhibits Complement Activation in Age-Related Macular Degeneration.
Published in:
PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112682
By:
- Smailhodzic, Dzenita;
- van Asten, Freekje;
- Blom, Anna M.;
- Mohlin, Frida C.;
- den Hollander, Anneke I.;
- van de Ven, Johannes P. H.;
- van Huet, Ramon A. C.;
- Groenewoud, Joannes M. M.;
- Tian, Yuan;
- Berendschot, Tos T. J. M.;
- Lechanteur, Yara T. E.;
- Fauser, Sascha;
- de Bruijn, Chris;
- Daha, Mohamed R.;
- van der Wilt, Gert Jan;
- Hoyng, Carel B.;
- Klevering, B. Jeroen
Publication type:
Article
Analysis of Rare Variants in the <i>C3</i> Gene in Patients with Age-Related Macular Degeneration.
Published in:
PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094165
By:
- Duvvari, Maheswara R.;
- Paun, Codrut C.;
- Buitendijk, Gabriëlle H. S.;
- Saksens, Nicole T. M.;
- Volokhina, Elena B.;
- Ristau, Tina;
- Schoenmaker-Koller, Frederieke E.;
- van de Ven, Johannes P. H.;
- Groenewoud, Joannes M. M.;
- van den Heuvel, Lambertus P. W. J.;
- Hofman, Albert;
- Fauser, Sascha;
- Uitterlinden, André G.;
- Klaver, Caroline C. W.;
- Hoyng, Carel B.;
- de Jong, Eiko K.;
- den Hollander, Anneke I.
Publication type:
Article
Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant.
Published in:
NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-022-00306-z
By:
- Reurink, Janine;
- de Vrieze, Erik;
- Li, Catherina H. Z.;
- van Berkel, Emma;
- Broekman, Sanne;
- Aben, Marco;
- Peters, Theo;
- Oostrik, Jaap;
- Neveling, Kornelia;
- Venselaar, Hanka;
- Ramos, Mariana Guimarães;
- Gilissen, Christian;
- Astuti, Galuh D. N.;
- Galbany, Jordi Corominas;
- van Lith-Verhoeven, Janneke J. C.;
- Ockeloen, Charlotte W.;
- Haer-Wigman, Lonneke;
- Hoyng, Carel B.;
- Cremers, Frans P. M.;
- Kremer, Hannie
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
CNGB3 mutations account for 50%of all cases with autosomal recessive achromatopsia.
Published in:
European Journal of Human Genetics, 2005, v. 13, n. 3, p. 302, doi. 10.1038/sj.ejhg.5201269
By:
- Kohl, Susanne;
- Varsanyi, Balazs;
- Antunes, Gesine Abadin;
- Baumann, Britta;
- Hoyng, Carel B.;
- Jägle, Herbert;
- Rosenberg, Thomas;
- Kellner, Ulrich;
- Lorenz, Birgit;
- Salati, Roberto;
- Jurklies, Bernhard;
- Farkas, Agnes;
- Andreasson, Sten;
- Weleber, Richard G.;
- Jacobson, Samuel G.;
- Rudolph, Günther;
- Castellan, Claudio;
- Dollfus, Helene;
- Legius, Eric;
- Anastasi, Mario
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
The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.
Published in:
European Journal of Human Genetics, 2002, v. 10, n. 3, p. 197, doi. 10.1038/sj.ejhg.5200784
By:
- Maugeri, Alessandra;
- Flothmann, Kris;
- Hemmrich, Nadine;
- Ingvast, Sofie;
- Jorge, Paula;
- Paloma, Eva;
- Patel, Reshma;
- Rozet, Jean-Michael;
- Tammur, Jaana;
- Testa, Francesco;
- Balcells, Susana;
- Bird, Alan C.;
- Brunner, Han G.;
- Hoyng, Carel B.;
- Metspalu, Andres;
- Simonelli, Francesca;
- Allikmets, Rando;
- Bhattacharya, Shomi S.;
- D'Urso, Michele
Publication type:
Article
Systemic complement activation levels in Stargardt disease.
Published in:
PLoS ONE, 2021, v. 16, n. 6, p. 1, doi. 10.1371/journal.pone.0253716
By:
- Dhooge, Patty P. A.;
- Runhart, Esmee H.;
- Li, Catherina H. Z.;
- de Kat Angelino, Corrie M.;
- Hoyng, Carel B.;
- van der Molen, Renate G.;
- den Hollander, Anneke I.
Publication type:
Article
Genome-wide association analyses identify two susceptibility loci for pachychoroid disease central serous chorioretinopathy.
Published in:
Communications Biology, 2019, v. 2, n. 1, p. 1, doi. 10.1038/s42003-019-0712-z
By:
- Hosoda, Yoshikatsu;
- Miyake, Masahiro;
- Schellevis, Rosa L.;
- Boon, Camiel J. F.;
- Hoyng, Carel B.;
- Miki, Akiko;
- Meguro, Akira;
- Sakurada, Yoichi;
- Yoneyama, Seigo;
- Takasago, Yukari;
- Hata, Masayuki;
- Muraoka, Yuki;
- Nakanishi, Hideo;
- Oishi, Akio;
- Ooto, Sotaro;
- Tamura, Hiroshi;
- Uji, Akihito;
- Miyata, Manabu;
- Takahashi, Ayako;
- Ueda-Arakawa, Naoko
Publication type:
Article
Association of Risk Variants in the CFH Gene With Elevated Levels of Coagulation and Complement Factors in Idiopathic Multifocal Choroiditis.
Published in:
JAMA Ophthalmology, 2023, v. 141, n. 8, p. 737, doi. 10.1001/jamaophthalmol.2023.2557
By:
- de Groot, Evianne L.;
- Ossewaarde–van Norel, Jeannette;
- de Boer, Joke H.;
- Hiddingh, Sanne;
- Bakker, Bjorn;
- van Huet, Ramon A. C.;
- ten Dam–van Loon, Ninette H.;
- Thiadens, Alberta A. H. J.;
- Meester-Smoor, Magda A.;
- de Jong–Hesse, Yvonne;
- Los, Leonoor I.;
- den Hollander, Anneke I.;
- Boon, Camiel J. F.;
- Kiemeney, Lambertus A.;
- van Eijk, Kristel R.;
- Bakker, Mark K.;
- Hoyng, Carel B.;
- Kuiper, Jonas J. W.
Publication type:
Article
Evaluating the Occurrence of Rare Variants in the Complement Factor H Gene in Patients With Early-Onset Drusen Maculopathy.
Published in:
2021
By:
- de Breuk, Anita;
- Heesterbeek, Thomas J.;
- Bakker, Bjorn;
- Verzijden, Timo;
- Lechanteur, Yara T. E.;
- Klaver, Caroline C. W.;
- den Hollander, Anneke I.;
- Hoyng, Carel B.
Publication type:
journal article
Association of Sex With Frequent and Mild ABCA4 Alleles in Stargardt Disease.
Published in:
2020
By:
- Runhart, Esmee H.;
- Khan, Mubeen;
- Cornelis, Stéphanie S.;
- Roosing, Susanne;
- Del Pozo-Valero, Marta;
- Lamey, Tina M.;
- Liskova, Petra;
- Roberts, Lisa;
- Stöhr, Heidi;
- Klaver, Caroline C. W.;
- Hoyng, Carel B.;
- Cremers, Frans P. M.;
- Dhaenens, Claire-Marie;
- ABCA4 Disease Consortium Study Group;
- Disease Consortium Study Group
Publication type:
journal article
Role of the Complement System in Chronic Central Serous Chorioretinopathy: A Genome-Wide Association Study.
Published in:
2018
By:
- Schellevis, Rosa L.;
- van Dijk, Elon H. C.;
- Breukink, Myrte B.;
- Altay, Lebriz;
- Bakker, Bjorn;
- Koeleman, Bobby P. C.;
- Kiemeney, Lambertus A.;
- Swinkels, Dorine W.;
- Keunen, Jan E. E.;
- Fauser, Sascha;
- Hoyng, Carel B.;
- den Hollander, Anneke I.;
- Boon, Camiel J. F.;
- de Jong, Eiko K.
Publication type:
journal article
Phenotype Characteristics of Patients With Age-Related Macular Degeneration Carrying a Rare Variant in the Complement Factor H Gene.
Published in:
2017
By:
- Kersten, Eveline;
- Geerlings, Maartje J.;
- den Hollander, Anneke I.;
- de Jong, Eiko K.;
- Fauser, Sascha;
- Peto, Tunde;
- Hoyng, Carel B.
Publication type:
journal article
Association of a Haplotype in the NR3C2 Gene, Encoding the Mineralocorticoid Receptor, With Chronic Central Serous Chorioretinopathy.
Published in:
2017
By:
- van Dijk, Elon H. C.;
- Schellevis, Rosa L.;
- van Bergen, Maaike G. J. M.;
- Breukink, Myrte B.;
- Altay, Lebriz;
- Scholz, Paula;
- Fauser, Sascha;
- Meijer, Onno C.;
- Hoyng, Carel B.;
- den Hollander, Anneke I.;
- Boon, Camiel J. F.;
- de Jong, Eiko K.
Publication type:
journal article
The Functional Effect of Rare Variants in Complement Genes on C3b Degradation in Patients With Age-Related Macular Degeneration.
Published in:
2017
By:
- Geerlings, Maartje J.;
- Kremlitzka, Mariann;
- Bakker, Bjorn;
- Nilsson, Sara C.;
- Saksens, Nicole T.;
- Lechanteur, Yara T.;
- Pauper, Marc;
- Corominas, Jordi;
- Fauser, Sascha;
- Hoyng, Carel B.;
- Blom, Anna M.;
- de Jong, Eiko K.;
- den Hollander, Anneke I.
Publication type:
journal article
Rare Genetic Variants Associated With Development of Age-Related Macular Degeneration.
Published in:
2016
By:
- Saksens, Nicole T. M.;
- Geerlings, Maartje J.;
- Bakker, Bjorn;
- Schick, Tina;
- Daha, Mohamed R.;
- Fauser, Sascha;
- Boon, Camiel J. F.;
- de Jong, Eiko K.;
- Hoyng, Carel B.;
- den Hollander, Anneke I.
Publication type:
journal article
Association of Smoking and CFH and ARMS2 Risk Variants With Younger Age at Onset of Neovascular Age-Related Macular Degeneration.
Published in:
JAMA Ophthalmology, 2015, v. 133, n. 5, p. 533, doi. 10.1001/jamaophthalmol.2015.18
By:
- Lechanteur, Yara T. E.;
- van de Camp, Patrick L.;
- Smailhodzic, Dzenita;
- van de Ven, Johannes P. H.;
- Buitendijk, Gabriëlle H. S.;
- Klaver, Caroline C. W.;
- Groenewoud, Joannes M. M.;
- den Hollander, Anneke I.;
- Hoyng, Carel B.;
- Klevering, Jeroen
Publication type:
Article
Exome sequencing in patients with chronic central serous chorioretinopathy.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-43152-3
By:
- Schellevis, Rosa L.;
- Breukink, Myrte B.;
- Gilissen, Christian;
- Boon, Camiel J. F.;
- Hoyng, Carel B.;
- de Jong, Eiko K.;
- den Hollander, Anneke I.
Publication type:
Article
Genetic risk score has added value over initial clinical grading stage in predicting disease progression in age-related macular degeneration.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-43144-3
By:
- Heesterbeek, Thomas J.;
- de Jong, Eiko K.;
- Acar, Ilhan E.;
- Groenewoud, Joannes M. M.;
- Liefers, Bart;
- Sánchez, Clara I.;
- Peto, Tunde;
- Hoyng, Carel B.;
- Pauleikhoff, Daniel;
- Hense, Hans W.;
- den Hollander, Anneke I.
Publication type:
Article
Analysis of hemopexin plasma levels in patients with age-related macular degeneration.
Published in:
Molecular Vision, 2022, v. 28, p. 536
By:
- Lauwen, Susette;
- Bakker, Bjorn;
- de Jong, Eiko K.;
- Fauser, Sascha;
- Hoyng, Carel B.;
- Lefeber, Dirk J.;
- den Hollander, Anneke I.
Publication type:
Article
Genetic and environmental risk factors for extramacular drusen.
Published in:
Molecular Vision, 2020, v. 26, p. 661
By:
- Altay, Lebriz;
- Subiras, Xavier;
- de Motta, Laura Lorés;
- Schick, Tina;
- Berghold, Aileen;
- Hoyng, Carel B.;
- den Hollander, Anneke I.;
- Fauser, Sascha;
- Sadda, Srinivas R.;
- Liakopoulos, Sandra
Publication type:
Article
Geographic distribution of rare variants associated with agerelated macular degeneration.
Published in:
Molecular Vision, 2018, v. 24, p. 75
By:
- Geerlings, Maartje J.;
- Kersten, Eveline;
- Groenewoud, Joannes M. M.;
- Fritsche, Lars G.;
- Hoyng, Carel B.;
- de Jong, Eiko K.;
- den Hollander, Anneke I.
Publication type:
Article
Risk factors for progression of age‐related macular degeneration.
Published in:
Ophthalmic & Physiological Optics, 2020, v. 40, n. 2, p. 140, doi. 10.1111/opo.12675
By:
- Heesterbeek, Thomas J;
- Lorés‐Motta, Laura;
- Hoyng, Carel B;
- Lechanteur, Yara T E;
- den Hollander, Anneke I
Publication type:
Article
Interaction between genetics and the adherence to the Mediterranean diet: the risk for age-related macular degeneration. Coimbra Eye Study Report 8.
Published in:
Eye & Vision, 2023, v. 10, n. 1, p. 1, doi. 10.1186/s40662-023-00355-0
By:
- Barreto, Patrícia;
- Farinha, Cláudia;
- Coimbra, Rita;
- Cachulo, Maria Luz;
- Melo, Joana Barbosa;
- Lechanteur, Yara;
- Hoyng, Carel B.;
- Cunha-Vaz, José;
- Silva, Rufino
Publication type:
Article
Validated Filter-Based Photoreceptor Count Algorithm on Retinal Heidelberg High Magnification Module™ Images in Healthy and Pathological Conditions.
Published in:
Applied Sciences (2076-3417), 2021, v. 11, n. 12, p. 5347, doi. 10.3390/app11125347
By:
- Mulders, Timo;
- Dhooge, Patty;
- van der Zanden, Ludo;
- Hoyng, Carel B.;
- Theelen, Thomas
Publication type:
Article
Intein-mediated protein trans-splicing expands adeno-associated virus transfer capacity in the retina.
Published in:
Science Translational Medicine, 2019, v. 11, n. 492, p. N.PAG, doi. 10.1126/scitranslmed.aav4523
By:
- Tornabene, Patrizia;
- Trapani, Ivana;
- Minopoli, Renato;
- Centrulo, Miriam;
- Lupo, Mariangela;
- de Simone, Sonia;
- Tiberi, Paola;
- Dell'Aquila, Fabio;
- Marrocco, Elena;
- Iodice, Carolina;
- Iuliano, Antonella;
- Gesualdo, Carlo;
- Rossi, Settimio;
- Giaquinto, Laura;
- Albert, Silvia;
- Hoyng, Carel B.;
- Polishchuk, Elena;
- Cremers, Frans P. M.;
- Surace, Enrico M.;
- Simonelli, Francesca
Publication type:
Article
Common and rare variants in patients with early onset drusen maculopathy.
Published in:
Clinical Genetics, 2022, v. 102, n. 5, p. 414, doi. 10.1111/cge.14212
By:
- de Breuk, Anita;
- Lechanteur, Yara T. E.;
- Astuti, Galuh;
- Galbany, Jordi Corominas;
- Klaver, Caroline C. W.;
- Hoyng, Carel B.;
- den Hollander, Anneke I.
Publication type:
Article
Genetic screening for macular dystrophies in patients clinically diagnosed with dry age‐related macular degeneration.
Published in:
Clinical Genetics, 2018, v. 94, n. 6, p. 569, doi. 10.1111/cge.13447
By:
- Kersten, Eveline;
- Geerlings, Maartje J.;
- Pauper, Marc;
- Corominas, Jordi;
- Bakker, Bjorn;
- Altay, Lebriz;
- Fauser, Sascha;
- de Jong, Eiko K.;
- Hoyng, Carel B.;
- den Hollander, Anneke I.
Publication type:
Article
Identifying Predictors of Anti-VEGF Treatment Response in Patients with Neovascular Age-Related Macular Degeneration through Discriminant and Principal Component Analysis.
Published in:
Ophthalmic Research, 2017, v. 58, n. 1, p. 49, doi. 10.1159/000449001
By:
- Holz, Frank G.;
- Tadayoni, Ramin;
- Beatty, Stephen;
- Berger, alan R.;
- Cereda, Matteo G.;
- Hykin, Philip;
- Hoyng, Carel B.;
- Wittrup-Jensen, Kim;
- altemark, andreas;
- Nilsson, Jonas;
- Kim, Kun;
- Sivaprasad, Sobha
Publication type:
Article
The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 6, p. N.PAG, doi. 10.1002/mgg3.660
By:
- Verbakel, Sanne K.;
- Fadaie, Zeinab;
- Klevering, B. Jeroen;
- van Genderen, Maria M.;
- Feenstra, Ilse;
- Cremers, Frans P. M.;
- Hoyng, Carel B.;
- Roosing, Susanne
Publication type:
Article
Exome sequencing in families with chronic central serous chorioretinopathy.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 4, p. N.PAG, doi. 10.1002/mgg3.576
By:
- Schellevis, Rosa L.;
- van Dijk, Elon H. C.;
- Breukink, Myrte B.;
- Keunen, Jan E. E.;
- Santen, Gijs W. E.;
- Hoyng, Carel B.;
- de Jong, Eiko K.;
- Boon, Camiel J. F.;
- den Hollander, Anneke I.
Publication type:
Article
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
Published in:
Human Molecular Genetics, 2022, v. 31, n. 3, p. 455, doi. 10.1093/hmg/ddab256
By:
- Jong, Sarah de;
- Breuk, Anita de;
- Volokhina, Elena B;
- Bakker, Bjorn;
- Garanto, Alejandro;
- Fauser, Sascha;
- Katti, Suresh;
- Hoyng, Carel B;
- Lechanteur, Yara T E;
- Heuvel, Lambert P van den;
- Hollander, Anneke I den
Publication type:
Article
Effect of rare coding variants in the CFI gene on Factor I expression levels.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 14, p. 2313, doi. 10.1093/hmg/ddaa114
By:
- Jong, Sarah de;
- Volokhina, Elena B;
- Breuk, Anita de;
- Nilsson, Sara C;
- Jong, Eiko K de;
- Kar, Nicole C A J van der;
- Bakker, Bjorn;
- Hoyng, Carel B;
- Heuvel, Lambert P van den;
- Blom, Anna M;
- Hollander, Anneke I den
Publication type:
Article
Family-based exome sequencing identifies rare coding variants in age-related macular degeneration.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 12, p. 2022, doi. 10.1093/hmg/ddaa057
By:
- Ratnapriya, Rinki;
- Acar, İlhan E;
- Geerlings, Maartje J;
- Branham, Kari;
- Kwong, Alan;
- Saksens, Nicole T M;
- Pauper, Marc;
- Corominas, Jordi;
- Kwicklis, Madeline;
- Zipprer, David;
- Starostik, Margaret R;
- Othman, Mohammad;
- Yashar, Beverly;
- Abecasis, Goncalo R;
- Chew, Emily Y;
- Ferrington, Deborah A;
- Hoyng, Carel B;
- Swaroop, Anand;
- Hollander, Anneke I den
Publication type:
Article
Functionally distinct ERAP1 and ERAP2 are a hallmark of HLA-A29-(Birdshot) Uveitis.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 24, p. 4333, doi. 10.1093/hmg/ddy319
By:
- Kuiper, Jonas J W;
- Setten, Jessica van;
- Devall, Matthew;
- Cretu-Stancu, Mircea;
- Hiddingh, Sanne;
- Ophoff, Roel A;
- Missotten, Tom O A R;
- Velthoven, Mirjam van;
- Hollander, Anneke I Den;
- Hoyng, Carel B
Publication type:
Article
Functional analyses of rare genetic variants in complement component C9 identified in patients with age-related macular degeneration.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 15, p. 2678, doi. 10.1093/hmg/ddy178
By:
- Kremlitzka, Mariann;
- Geerlings, Maartje J;
- Jong, Sarah de;
- Bakker, Bjorn;
- Nilsson, Sara C;
- Fauser, Sascha;
- Hoyng, Carel B;
- Jong, Eiko K de;
- Hollander, Anneke I den;
- Blom, Anna M
Publication type:
Article
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Published in:
Human Molecular Genetics, 2015, v. 24, n. 13, p. 3742, doi. 10.1093/hmg/ddv118
By:
- 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
Publication type:
Article
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 22, p. 6081, doi. 10.1093/hmg/ddu307
By:
- Kuiper, Jonas J.W.;
- Van Setten, Jessica;
- Ripke, Stephan;
- Van ‘T Slot, Ruben;
- Mulder, Flip;
- Missotten, Tom;
- Baarsma, G. Seerp;
- Francioli, Laurent C.;
- Pulit, Sara L.;
- De Kovel, Carolien G.F.;
- Ten Dam-Van Loon, Ninette;
- Den Hollander, Anneke I.;
- Huis in het Veld, Paulien;
- Hoyng, Carel B.;
- Cordero-Coma, Miguel;
- Martín, Javier;
- Llorenç, Victor;
- Arya, Bharti;
- Thomas, Dhanes;
- Bakker, Steven C.
Publication type:
Article
Genome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 15, p. 3174, doi. 10.1093/hmg/ddt169
By:
- Kirin, Mirna;
- Chandra, Aman;
- Charteris, David G.;
- Hayward, Caroline;
- Campbell, Susan;
- Celap, Ivana;
- Bencic, Goran;
- Vatavuk, Zoran;
- Kirac, Iva;
- Richards, Allan J.;
- Tenesa, Albert;
- Snead, Martin P.;
- Fleck, Brian W.;
- Singh, Jaswinder;
- Harsum, Steven;
- MacLaren, Robert E.;
- den Hollander, Anneke I.;
- Dunlop, Malcolm G.;
- Hoyng, Carel B.;
- Wright, Alan F.
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

Found: 108