Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Virginie J. M. Verhoeven"'
Autor:
Cansu de Muijnck, Lonneke Haer-Wigman, Judith A. M. van Everdingen, Tanya Lushchyk, Pam A. T. Heutinck, Marieke F. van Dooren, Anneke J. A. Kievit, Virginie J. M. Verhoeven, Marleen E. H. Simon, Rosemarie A. Wasmann, Irene C. Notting, Elfride De Baere, Sophie Walraedt, Julie De Zaeytijd, Filip Van den Broeck, Bart P. Leroy, Camiel J. F. Boon, Maria M. van Genderen
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Abstract This study aims to describe the ophthalmic characteristics of autosomal dominant (AD) WFS1-associated optic atrophy (AD WFS1-OA), and to explore phenotypic differences with dominant optic atrophy (DOA) caused by mutations in the OPA1-gene. W
Externí odkaz:
https://doaj.org/article/0c0b6eba7aa84c6fa61212f9ff5202a8
Autor:
Anthony M. Musolf, Annechien E. G. Haarman, Robert N. Luben, Jue-Sheng Ong, Karina Patasova, Rolando Hernandez Trapero, Joseph Marsh, Ishika Jain, Riya Jain, Paul Zhiping Wang, Deyana D. Lewis, Milly S. Tedja, Adriana I. Iglesias, Hengtong Li, Cameron S. Cowan, Consortium for Refractive Error and Myopia (CREAM), Ginevra Biino, Alison P. Klein, Priya Duggal, David A. Mackey, Caroline Hayward, Toomas Haller, Andres Metspalu, Juho Wedenoja, Olavi Pärssinen, Ching-Yu Cheng, Seang-Mei Saw, Dwight Stambolian, Pirro G. Hysi, Anthony P. Khawaja, Veronique Vitart, Christopher J. Hammond, Cornelia M. van Duijn, Virginie J. M. Verhoeven, Caroline C. W. Klaver, Joan E. Bailey-Wilson
Publikováno v:
Communications Biology, Vol 6, Iss 1, Pp 1-17 (2023)
A multi-ethnic meta-analysis of exome array data from over 27,000 participants identifies several rare variants that could contribute to risk of ocular refractive error.
Externí odkaz:
https://doaj.org/article/bd8c4caa72a641eab1075fd26afb62da
Autor:
Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs i
Externí odkaz:
https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1
Autor:
Qiao Fan, Virginie J. M. Verhoeven, Robert Wojciechowski, Veluchamy A. Barathi, Pirro G. Hysi, Jeremy A. Guggenheim, René Höhn, Veronique Vitart, Anthony P. Khawaja, Kenji Yamashiro, S Mohsen Hosseini, Terho Lehtimäki, Yi Lu, Toomas Haller, Jing Xie, Cécile Delcourt, Mario Pirastu, Juho Wedenoja, Puya Gharahkhani, Cristina Venturini, Masahiro Miyake, Alex W. Hewitt, Xiaobo Guo, Johanna Mazur, Jenifer E. Huffman, Katie M. Williams, Ozren Polasek, Harry Campbell, Igor Rudan, Zoran Vatavuk, James F. Wilson, Peter K. Joshi, George McMahon, Beate St Pourcain, David M. Evans, Claire L. Simpson, Tae-Hwi Schwantes-An, Robert P. Igo, Alireza Mirshahi, Audrey Cougnard-Gregoire, Céline Bellenguez, Maria Blettner, Olli Raitakari, Mika Kähönen, Ilkka Seppälä, Tanja Zeller, Thomas Meitinger, Janina S. Ried, Christian Gieger, Laura Portas, Elisabeth M. van Leeuwen, Najaf Amin, André G. Uitterlinden, Fernando Rivadeneira, Albert Hofman, Johannes R. Vingerling, Ya Xing Wang, Xu Wang, Eileen Tai-Hui Boh, M. Kamran Ikram, Charumathi Sabanayagam, Preeti Gupta, Vincent Tan, Lei Zhou, Candice E. H. Ho, Wan’e Lim, Roger W. Beuerman, Rosalynn Siantar, E-Shyong Tai, Eranga Vithana, Evelin Mihailov, Chiea-Chuen Khor, Caroline Hayward, Robert N. Luben, Paul J. Foster, Barbara E. K. Klein, Ronald Klein, Hoi-Suen Wong, Paul Mitchell, Andres Metspalu, Tin Aung, Terri L. Young, Mingguang He, Olavi Pärssinen, Cornelia M. van Duijn, Jie Jin Wang, Cathy Williams, Jost B. Jonas, Yik-Ying Teo, David A. Mackey, Konrad Oexle, Nagahisa Yoshimura, Andrew D. Paterson, Norbert Pfeiffer, Tien-Yin Wong, Paul N. Baird, Dwight Stambolian, Joan E. Bailey Wilson, Ching-Yu Cheng, Christopher J. Hammond, Caroline C. W. Klaver, Seang-Mei Saw, Consortium for Refractive Error and Myopia (CREAM)
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-12 (2016)
This report by the Consortium for Refractive Error and Myopia uses gene-environment-wide interaction study (GEWIS) to identify genetic loci that affect environmental influence in myopia development, and identifies ethnic specific genetic loci that at
Externí odkaz:
https://doaj.org/article/b0563139c510416e9a4da61510e1f5d4
Autor:
J. Willem L. Tideman, Virginie J. M. Verhoeven, Magda A. Meester‐Smoor, Sander C. M. Kneepkens, Kubra Liman, Jan Roelof Polling, Caroline C. W. Klaver
Publikováno v:
Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists), 43(3), 293-295. Wiley-Blackwell Publishing Ltd
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8bcf7dcd301b17a1621da765ceb235b
https://doi.org/10.1111/opo.13128
https://doi.org/10.1111/opo.13128
Autor:
Ian Flitcroft, John Ainsworth, Audrey Chia, Susan Cotter, Elise Harb, Zi-Bing Jin, Caroline C. W. Klaver, Anthony T. Moore, Ken K. Nischal, Kyoko Ohno-Matsui, Evelyn A. Paysse, Michael X. Repka, Irina Y. Smirnova, Martin Snead, Virginie J. M. Verhoeven, Pavan K. Verkicharla
Publikováno v:
Investigative ophthalmology & visual science, 64(6):3. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 64
Investigative Ophthalmology and Visual Science, 64, 6
Investigative Ophthalmology and Visual Science, 64
Investigative Ophthalmology and Visual Science, 64, 6
Contains fulltext : 292367.pdf (Publisher’s version ) (Open Access) PURPOSE: The purpose of this study was to evaluate the epidemiology, etiology, clinical assessment, investigation, management, and visual consequences of high myopia (≤-6 diopter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44d7ebb53f3b14101926234981ac856c
https://hdl.handle.net/2066/292367
https://hdl.handle.net/2066/292367
Autor:
Jan Roelof Polling, Nora Al-Jaffar, Clair A. Enthoven, Caroline C W Klaver, Virginie J. M. Verhoeven, Lauwerens Metz, Pauline W. Jansen, Timo Verzijden, J. Willem L. Tideman, Hein Raat
Publikováno v:
Ophthalmology. 128:1681-1688
Purpose To investigate the association between smartphone use and refractive error in teenagers using the Myopia app. Design Cross-sectional population-based study. Participants A total of 525 teenagers 12 to 16 years of age from 6 secondary schools
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5548ad3d9c31fdf71d1344a589866c8f
https://doi.org/10.1016/j.ophtha.2021.06.016
https://doi.org/10.1016/j.ophtha.2021.06.016
Autor:
Annechien E G Haarman, Alberta A H J Thiadens, Marianne van Tienhoven, Sjoukje E Loudon, J E M M Annelies de Klein, Erwin Brosens, Jan Roelof Polling, Vyne van der Schoot, Arjan Bouman, Anneke J A Kievit, Lies H Hoefsloot, Caroline C W Klaver, Virginie J M Verhoeven
Publikováno v:
Human Molecular Genetics, 31(19), 3290-3298. Oxford University Press
Human Molecular Genetics, 31, 3290-3298
Human Molecular Genetics, 31, 19, pp. 3290-3298
Human Molecular Genetics, 31, 3290-3298
Human Molecular Genetics, 31, 19, pp. 3290-3298
Contains fulltext : 282474.pdf (Publisher’s version ) (Open Access) High myopia [refractive error ≤ -6 diopters (D)] is a heterogeneous condition, and without clear accompanying features, it can be difficult to pinpoint a genetic cause. This obse
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8560ccb73d65e404fa30727894fb5e89
https://doi.org/10.1093/hmg/ddac113
https://doi.org/10.1093/hmg/ddac113
Autor:
Andrei V Tkatchenko, Tatiana V Tkatchenko, Jeremy A Guggenheim, Virginie J M Verhoeven, Pirro G Hysi, Robert Wojciechowski, Pawan Kumar Singh, Ashok Kumar, Gopal Thinakaran, Consortium for Refractive Error and Myopia (CREAM), Cathy Williams
Publikováno v:
PLoS Genetics, Vol 11, Iss 8, p e1005432 (2015)
Myopia is the most common vision disorder and the leading cause of visual impairment worldwide. However, gene variants identified to date explain less than 10% of the variance in refractive error, leaving the majority of heritability unexplained ("mi
Externí odkaz:
https://doaj.org/article/a0988cfb09a34471919a99bf09978271
Autor:
Hein Raat, Virginie J. M. Verhoeven, Annette Geerards, Jan E.E. Keunen, Camiel J. F. Boon, Jan Roelof Polling, Gregorius P M Luyten, Gwyneth A van Rijn, Annechien E. G. Haarman, Milly S. Tedja, J. Willem L. Tideman, Janine F. Felix, Clair A. Enthoven, Caroline C W Klaver
Publikováno v:
Investigative Ophthalmology and Visual Science, 62(10). Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 62, 10
Investigative Ophthalmology & Visual Science, 62(10). ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology and Visual Science, 62
Investigative Ophthalmology and Visual Science, 62, 10
Investigative Ophthalmology & Visual Science, 62(10). ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology and Visual Science, 62
Item does not contain fulltext PURPOSE: To study the relatively high effect of the refractive error gene GJD2 in human myopia, and to assess its relationship with refractive error, ocular biometry and lifestyle in various age groups. METHODS: The pop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c20fb0731d1f2fcc437ddb98e3c97a74
https://pure.amc.nl/en/publications/phenotypic-consequences-of-the-gjd2-risk-genotype-in-myopia-development(c7eb82b3-65ac-4962-9d03-42959f501401).html
https://pure.amc.nl/en/publications/phenotypic-consequences-of-the-gjd2-risk-genotype-in-myopia-development(c7eb82b3-65ac-4962-9d03-42959f501401).html