Uveitis causes according to immune status of patients

por Rothova, Aniki, Hajjaj, Anass, de Hoog, Joeri, Thiadens, Alberta A.H.J., Dalm, Virgil A.S.H.
Publicado 2018

Cone-rod dystrophy can be a manifestation of Danon disease

por Thiadens, Alberta A. H. J., Slingerland, Niki W. R., Florijn, Ralph J., Visser, Gerhard H., Riemslag, Frans C., Klaver, Caroline C. W.
Publicado 2012

Endophthalmitis after strabismus surgery: incidence and outcome in relation to age, operated eye muscle, surgical technique, scleral perforation and immune state

por Simonsz, Huibert J., Rutar, Tina, Kraft, Stephen, Thiadens, Alberta A.H.J., Batstra, Manou R., Verdijk, Robert M., Loeffler, Karin U., Kommerell, Guntram
Publicado 2020

Clinical course of cone dystrophy caused by mutations in the RPGR gene

por Thiadens, Alberta A. H. J., Soerjoesing, Gyan G., Florijn, Ralph J., Tjiam, A. G., den Hollander, Anneke I., van den Born, L. Ingeborgh, Riemslag, Frans C., Bergen, Arthur A. B., Klaver, Caroline C. W.
Publicado 2011

Differences in clinical presentation of primary open‐angle glaucoma between African and European populations

por Bonnemaijer, Pieter W. M., Lo Faro, Valeria, Sanyiwa, Anna J., Hassan, Hassan G., Cook, Colin, Van de Laar, Suzanne, Lemij, Hans G., Klaver, Caroline C. W., Jansonius, Nomdo M., Thiadens, Alberta A. H. J.
Publicado 2021

Early onset X‐linked female limited high myopia in three multigenerational families caused by novel mutations in the ARR3 gene

por van Mazijk, Ralph, Haarman, Annechien E.G., Hoefsloot, Lies H., Polling, Jan R., van Tienhoven, Marianne, Klaver, Caroline C.W., Verhoeven, Virginie J.M., Loudon, Sjoukje E., Thiadens, Alberta A.H.J., Kievit, Anneke J.A.
Publicado 2022

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia

por Azam, Maleeha, Collin, Rob W.J., Shah, Syed Tahir Abbas, Shah, Aftab Ali, Khan, Muhammad Imran, Hussain, Alamdar, Sadeque, Ahmed, Strom, Tim M., Thiadens, Alberta A.H.J., Roosing, Susanne, den Hollander, Anneke I., Cremers, Frans P.M., Qamar, Raheel
Publicado 2010

Whole exome sequencing of known eye genes reveals genetic causes for high myopia

por Haarman, Annechien E G, Thiadens, Alberta A H J, van Tienhoven, Marianne, Loudon, Sjoukje E, de Klein, J E M M Annelies, Brosens, Erwin, Polling, Jan Roelof, van der Schoot, Vyne, Bouman, Arjan, Kievit, Anneke J A, Hoefsloot, Lies H, Klaver, Caroline C W, Verhoeven, Virginie J M
Publicado 2022

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

por Gabrielle, Pierre-Henry, Faivre, Laurence, Audo, Isabelle, Zanlonghi, Xavier, Dollfus, Hélène, Thiadens, Alberta A. H. J., Zeitz, Christina, Mancini, Grazia M. S., Perdomo, Yaumara, Mohand-Saïd, Saddek, Lizé, Eléonore, Lhussiez, Vincent, Nandrot, Emeline F., Acar, Niyazi, Creuzot-Garcher, Catherine, Sahel, José-Alain, Ansar, Muhammad, Thauvin-Robinet, Christel, Duplomb, Laurence, Da Costa, Romain
Publicado 2021

Stargardt disease: monitoring incidence and diagnostic trends in the Netherlands using a nationwide disease registry

por Runhart, Esmee H., Dhooge, Patty, Meester‐Smoor, Magda, Pas, Jeroen, Pott, Jan Willem R., van Leeuwen, Redmer, Kroes, Hester Y., Bergen, Arthur A., de Jong‐Hesse, Yvonne, Thiadens, Alberta A., van Schooneveld, Mary J., van Genderen, Maria, Boon, Camiel, Klaver, Caroline, van den Born, L. Ingeborg, Cremers, Frans P. M., Hoyng, Carel B.
Publicado 2021

Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1‐associated retinal dystrophies

por Talib, Mays, van Schooneveld, Mary J., Wijnholds, Jan, van Genderen, Maria M., Schalij‐Delfos, Nicoline E., Talsma, Herman E., Florijn, Ralph J., ten Brink, Jacoline B., Cremers, Frans P.M., Thiadens, Alberta A.H.J., van den Born, L. Ingeborgh, Hoyng, Carel B., Meester‐Smoor, Magda A., Bergen, Arthur A., Boon, Camiel J.F.
Publicado 2021

Association of Risk Variants in the CFH Gene With Elevated Levels of Coagulation and Complement Factors in Idiopathic Multifocal Choroiditis

por 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.
Publicado 2023

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

por Bonnemaijer, Pieter W. M., Leeuwen, Elisabeth M. van, Iglesias, Adriana I., Gharahkhani, Puya, Vitart, Veronique, Khawaja, Anthony P., Simcoe, Mark, Höhn, René, Cree, Angela J., Igo, Rob P., Gerhold-Ay, Aslihan, Nickels, Stefan, Wilson, James F., Hayward, Caroline, Boutin, Thibaud S., Polašek, Ozren, Aung, Tin, Khor, Chiea Chuen, Amin, Najaf, Lotery, Andrew J., Wiggs, Janey L., Cheng, Ching-Yu, Hysi, Pirro G., Hammond, Christopher J., Thiadens, Alberta A. H. J., MacGregor, Stuart, Klaver, Caroline C. W., Duijn, Cornelia M. van
Publicado 2019

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

por Sangermano, Riccardo, Garanto, Alejandro, Khan, Mubeen, Runhart, Esmee H., Bauwens, Miriam, Bax, Nathalie M., van den Born, L. Ingeborgh, Khan, Muhammad Imran, Cornelis, Stéphanie 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, Stöhr, Heidi, Grassmann, Felix, Weber, Bernhard H. F., Hoyng, Carel B., De Baere, Elfride, Albert, Silvia, Collin, Rob W. J., Cremers, Frans P. M.
Publicado 2019

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images

por Currant, Hannah, Hysi, Pirro, Fitzgerald, Tomas W., Gharahkhani, Puya, Bonnemaijer, Pieter W. M., Senabouth, Anne, Hewitt, Alex W., Atan, Denize, Aung, Tin, Charng, Jason, Choquet, Hélène, Craig, Jamie, Khaw, Peng T., Klaver, Caroline C. W., Kubo, Michiaki, Ong, Jue-Sheng, Pasquale, Louis R., Reisman, Charles A., Daniszewski, Maciej, Powell, Joseph E., Pébay, Alice, Simcoe, Mark J., Thiadens, Alberta A. H. J., van Duijn, Cornelia M., Yazar, Seyhan, Jorgenson, Eric, MacGregor, Stuart, Hammond, Chris J., Mackey, David A., Wiggs, Janey L., Foster, Paul J., Patel, Praveen J., Birney, Ewan, Khawaja, Anthony P.
Publicado 2021

KCNV2-Associated Retinopathy: Genetics, Electrophysiology, and Clinical Course—KCNV2 Study Group Report 1

por Georgiou, Michalis, Robson, Anthony G., Fujinami, Kaoru, Leo, Shaun M., Vincent, Ajoy, Nasser, Fadi, Cabral De Guimarães, Thales Antônio, Khateb, Samer, Pontikos, Nikolas, Fujinami-Yokokawa, Yu, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Vargas, Mauricio E., Thiadens, Alberta A.H.J., de Carvalho, Emanuel R., Nguyen, Xuan-Thanh-An, Arno, Gavin, Mahroo, Omar A., Martin-Merida, Maria Inmaculada, Jimenez-Rolando, Belen, Gordo, Gema, Carreño, Ester, Carmen, Ayuso, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M., Wissinger, Bernd, Boon, Camiel J.F., Banin, Eyal, Pennesi, Mark E., Khan, Arif O., Webster, Andrew R., Zrenner, Eberhart, Héon, Elise, Michaelides, Michel
Publicado 2021

Correction: Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images

por Currant, Hannah, Hysi, Pirro, Fitzgerald, Tomas W., Gharahkhani, Puya, Bonnemaijer, Pieter W. M., Senabouth, Anne, Hewitt, Alex W., Atan, Denize, Aung, Tin, Charng, Jason, Choquet, Hélène, Craig, Jamie, Khaw, Peng T., Klaver, Caroline C. W., Kubo, Michiaki, Ong, Jue-Sheng, Pasquale, Louis R., Reisman, Charles A., Daniszewski, Maciej, Powell, Joseph E., Pébay, Alice, Simcoe, Mark J., Thiadens, Alberta A. H. J., van Duijn, Cornelia M., Yazar, Seyhan, Jorgenson, Eric, MacGregor, Stuart, Hammond, Chris J., Mackey, David A., Wiggs, Janey L., Foster, Paul J., Patel, Praveen J., Birney, Ewan, Khawaja, Anthony P.
Publicado 2021

KCNV2-Associated Retinopathy: Detailed Retinal Phenotype and Structural Endpoints—KCNV2 Study Group Report 2

por Georgiou, Michalis, Fujinami, Kaoru, Vincent, Ajoy, Nasser, Fadi, Khateb, Samer, Vargas, Mauricio E., Thiadens, Alberta A.H.J., de Carvalho, Emanuel R., Nguyen, Xuan-Thanh-An, De Guimarães, Thales Antônio Cabral, Robson, Anthony G., Mahroo, Omar A., Pontikos, Nikolas, Arno, Gavin, Fujinami-Yokokawa, Yu, Leo, Shaun Michael, Liu, Xiao, Tsunoda, Kazushige, Hayashi, Takaaki, Jimenez-Rolando, Belen, Martin-Merida, Maria Inmaculada, Avila-Fernandez, Almudena, Carreño, Ester, Garcia-Sandoval, Blanca, Ayuso, Carmen, Sharon, Dror, Kohl, Susanne, Huckfeldt, Rachel M., Boon, Camiel J.F., Banin, Eyal, Pennesi, Mark E., Wissinger, Bernd, Webster, Andrew R., Héon, Elise, Khan, Arif O., Zrenner, Eberhart, Michaelides, Michel
Publicado 2021

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations

por Bonnemaijer, Pieter W. M., Iglesias, Adriana I., Nadkarni, Girish N., Sanyiwa, Anna J., Hassan, Hassan G., Cook, Colin, Simcoe, Mark, Taylor, Kent D., Schurmann, Claudia, Belbin, Gillian M., Kenny, Eimear E., Bottinger, Erwin P., van de Laar, Suzanne, Wiliams, Susan E. I., Akafo, Stephen K., Ashaye, Adeyinka O., Zangwill, Linda M., Girkin, Christopher A., Ng, Maggie C. Y., Rotter, Jerome I., Weinreb, Robert N., Li, Zheng, Allingham, R. Rand, Nag, Abhishek, Hysi, Pirro G., Meester-Smoor, Magda A., Wiggs, Janey L, Hauser, Michael A., Hammond, Christopher J., Lemij, Hans G., Loos, Ruth J. F., van Duijn, Cornelia M., Thiadens, Alberta A. H. J., Klaver, Caroline C. W.
Publicado 2018

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

por Panneman, Daan M., Hitti-Malin, Rebekkah J., Holtes, Lara K., de Bruijn, Suzanne E., Reurink, Janine, Boonen, Erica G. M., Khan, Muhammad Imran, Ali, Manir, Andréasson, Sten, De Baere, Elfride, Banfi, Sandro, Bauwens, Miriam, Ben-Yosef, Tamar, Bocquet, Béatrice, De Bruyne, Marieke, de la Cerda, Berta, Coppieters, Frauke, Farinelli, Pietro, Guignard, Thomas, Inglehearn, Chris F., Karali, Marianthi, Kjellström, Ulrika, Koenekoop, Robert, de Koning, Bart, Leroy, Bart P., McKibbin, Martin, Meunier, Isabelle, Nikopoulos, Konstantinos, Nishiguchi, Koji M., Poulter, James A., Rivolta, Carlo, Rodríguez de la Rúa, Enrique, Saunders, Patrick, Simonelli, Francesca, Tatour, Yasmin, Testa, Francesco, Thiadens, Alberta A. H. J., Toomes, Carmel, Tracewska, Anna M., Tran, Hoai Viet, Ushida, Hiroaki, Vaclavik, Veronika, Verhoeven, Virginie J. M., van de Vorst, Maartje, Gilissen, Christian, Hoischen, Alexander, Cremers, Frans P. M., Roosing, Susanne
Publicado 2023