Alberta A Thiadens

Alberta A H J Thiadens

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Alberta A Thiadens

Alberta A H J Thiadens

Publications by authors named "Alberta A H J Thiadens"

24Publications

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1PubMed Central Citations

Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

Authors:
Michael A Hauser R Rand Allingham Tin Aung Carly J Van Der Heide Kent D Taylor Jerome I Rotter Shih-Hsiu J Wang Pieter W M Bonnemaijer Susan E Williams Sadiq M Abdullahi Khaled K Abu-Amero Michael G Anderson Stephen Akafo Mahmoud B Alhassan Ifeoma Asimadu Radha Ayyagari Saydou Bakayoko Prisca Biangoup Nyamsi Donald W Bowden William C Bromley Donald L Budenz Trevor R Carmichael Pratap Challa Yii-Der Ida Chen Chimdi M Chuka-Okosa Jessica N Cooke Bailey Vital Paulino Costa Dianne A Cruz Harvey DuBiner John F Ervin Robert M Feldman Miles Flamme-Wiese Douglas E Gaasterland Sarah J Garnai Christopher A Girkin Nouhoum Guirou Xiuqing Guo Jonathan L Haines Christopher J Hammond Leon Herndon Thomas J Hoffmann Christine M Hulette Abba Hydara Robert P Igo Eric Jorgenson Joyce Kabwe Ngoy Janvier Kilangalanga Nkiru Kizor-Akaraiwe Rachel W Kuchtey Hasnaa Lamari Zheng Li Jeffrey M Liebmann Yutao Liu Ruth J F Loos Monica B Melo Sayoko E Moroi Joseph M Msosa Robert F Mullins Girish Nadkarni Abdoulaye Napo Maggie C Y Ng Hugo Freire Nunes Ebenezer Obeng-Nyarkoh Anthony Okeke Suhanya Okeke Olusegun Olaniyi Olusola Olawoye Mariana Borges Oliveira Louise R Pasquale Rodolfo A Perez-Grossmann Margaret A Pericak-Vance Xue Qin Michele Ramsay Serge Resnikoff Julia E Richards Rui Barroso Schimiti Kar Seng Sim William E Sponsel Paulo Vinicius Svidnicki Alberta A H J Thiadens Nkechinyere J Uche Cornelia M van Duijn José Paulo Cabral de Vasconcellos Janey L Wiggs Linda M Zangwill Neil Risch Dan Milea Adeyinka Ashaye Caroline C W Klaver Robert N Weinreb Allison E Ashley Koch John H Fingert Chiea Chuen Khor

JAMA 2019 11;322(17):1682-1691

Singapore Eye Research Institute, Singapore.

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http://dx.doi.org/10.1001/jama.2019.16161DOI Listing
November 2019

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

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

Commun Biol 2019 27;2:435. Epub 2019 Nov 27.

2Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1038/s42003-019-0634-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6881308PMC
November 2019

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

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

Genet Med 2019 08 15;21(8):1751-1760. Epub 2019 Jan 15.

Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/s41436-018-0414-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752325PMC
August 2019

Extending the Spectrum of EYS-Associated Retinal Disease to Macular Dystrophy.

Authors:
Laurence H M Pierrache Muriël Messchaert Alberta A H J Thiadens Lonneke Haer-Wigman Yvonne de Jong-Hesse Wendy A G van Zelst-Stams Rob W J Collin Caroline C W Klaver L Ingeborgh van den Born

Invest Ophthalmol Vis Sci 2019 05;60(6):2049-2063

The Rotterdam Eye Hospital, Rotterdam, The Netherlands.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.1
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http://dx.doi.org/10.1167/iovs.18-25531DOI Listing
May 2019

Uveitis causes according to immune status of patients.

Authors:
Aniki Rothova Anass Hajjaj Joeri de Hoog Alberta A H J Thiadens Virgil A S H Dalm

Acta Ophthalmol 2019 Feb 21;97(1):53-59. Epub 2018 Sep 21.

Department of Internal Medicine, Division Immunology, Erasmus Medical Center, Erasmus University, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1111/aos.13877DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6585906PMC
February 2019

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

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

Hum Genet 2018 Oct 13;137(10):847-862. Epub 2018 Oct 13.

Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00439-018-1943-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6754628PMC
October 2018

Clinical Characterization of 66 Patients With Congenital Retinal Disease Due to the Deep-Intronic c.2991+1655A>G Mutation in CEP290.

Authors:
Dyon Valkenburg Caroline van Cauwenbergh Birgit Lorenz Mies M van Genderen Mette Bertelsen Jan-Willem R Pott Frauke Coppieters Julie de Zaeytijd Alberta A H J Thiadens Caroline C W Klaver Hester Y Kroes Mary J van Schooneveld Markus Preising Carel B Hoyng Bart P Leroy L Ingeborgh van den Born Rob W J Collin

Invest Ophthalmol Vis Sci 2018 09;59(11):4384-4391

Radboud University Medical Center, Donders Institute for Brain, Cognition and Behavior, Cognitive Neuroscience Department, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.18-24817DOI Listing
September 2018

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants.

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

Invest Ophthalmol Vis Sci 2018 07;59(8):3220-3231

Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1167/iovs.18-23881DOI Listing
July 2018

Vitamin A for Children With Retinitis Pigmentosa: An Unresolved Mystery.

Authors:
Caroline C W Klaver Alberta A H J Thiadens

JAMA Ophthalmol 2018 05;136(5):496-497

Erasmus Medical Center, Rotterdam, the Netherlands.

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http://dx.doi.org/10.1001/jamaophthalmol.2018.0658DOI Listing
May 2018

Genetic African Ancestry Is Associated With Central Corneal Thickness and Intraocular Pressure in Primary Open-Angle Glaucoma.

Authors:
Pieter W M Bonnemaijer Colin Cook Abhishek Nag Christopher J Hammond Cornelia M van Duijn Hans G Lemij Caroline C W Klaver Alberta A H J Thiadens

Invest Ophthalmol Vis Sci 2017 06;58(7):3172-3180

Department of Ophthalmology, Erasmus MC, Rotterdam, The Netherlands 2Department of Epidemiology, Erasmus MC, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1167/iovs.17-21716DOI Listing
June 2017

Heterozygous deep-intronic variants and deletions in ABCA4 in persons with retinal dystrophies and one exonic ABCA4 variant.

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

Hum Mutat 2015 Jan;36(1):43-7

Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1002/humu.22717DOI Listing
January 2015

Causes and consequences of inherited cone disorders.

Authors:
Susanne Roosing Alberta A H J Thiadens Carel B Hoyng Caroline C W Klaver Anneke I den Hollander Frans P M Cremers

Prog Retin Eye Res 2014 Sep 22;42:1-26. Epub 2014 May 22.

Department of Human Genetics, Radboud University Medical Center, PO Box 9101, 6500 HB, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, PO Box 9101, 6500 HB, Nijmegen, The Netherlands. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2014.05.001DOI Listing
September 2014

Maternal uniparental isodisomy of chromosome 6 reveals a TULP1 mutation as a novel cause of cone dysfunction.

Authors:
Susanne Roosing L Ingeborgh van den Born Carel B Hoyng Alberta A H J Thiadens Elfride de Baere Rob W J Collin Robert K Koenekoop Bart P Leroy Norka van Moll-Ramirez Hanka Venselaar Frans C C Riemslag Frans P M Cremers Caroline C W Klaver Anneke I den Hollander

Ophthalmology 2013 Jun 15;120(6):1239-46. Epub 2013 Mar 15.

Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1016/j.ophtha.2012.12.005DOI Listing
June 2013

Accuracy of four commonly used color vision tests in the identification of cone disorders.

Authors:
Alberta A H J Thiadens Carel B Hoyng Jan Roelof Polling Riet Bernaerts-Biskop L Ingeborgh van den Born Caroline C W Klaver

Ophthalmic Epidemiol 2013 Apr;20(2):114-21

Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.3109/09286586.2012.759596DOI Listing
April 2013

Cone-rod dystrophy can be a manifestation of Danon disease.

Authors:
Alberta A H J Thiadens Niki W R Slingerland Ralph J Florijn Gerhard H Visser Frans C Riemslag Caroline C W Klaver

Graefes Arch Clin Exp Ophthalmol 2012 May;250(5):769-74

Department of Ophthalmology, Erasmus Medical Center, P.O. Box 2040, NL-3000 CA, Rotterdam, Netherlands.

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http://dx.doi.org/10.1007/s00417-011-1857-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3332371PMC
May 2012

Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy.

Authors:
Alberta A H J Thiadens T My Lan Phan Renate C Zekveld-Vroon Bart P Leroy L Ingeborgh van den Born Carel B Hoyng Caroline C W Klaver Susanne Roosing Jan-Willem R Pott Mary J van Schooneveld Norka van Moll-Ramirez Maria M van Genderen Camiel J F Boon Anneke I den Hollander Arthur A B Bergen Elfride De Baere Frans P M Cremers Andrew J Lotery

Ophthalmology 2012 Apr 20;119(4):819-26. Epub 2012 Jan 20.

Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ophtha.2011.10.011DOI Listing
April 2012

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

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

Graefes Arch Clin Exp Ophthalmol 2011 Oct 25;249(10):1527-35. Epub 2011 Aug 25.

Department of Ophthalmology, Erasmus Medical Center, PO Box 2040, 3000, CA, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1007/s00417-011-1789-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3178018PMC
October 2011

Genetic testing and clinical characterization of patients with cone-rod dystrophy.

Authors:
Alberta A H J Thiadens Caroline C W Klaver

Invest Ophthalmol Vis Sci 2010 Dec;51(12):6904-5; author reply 6905

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http://dx.doi.org/10.1167/iovs.10-6145DOI Listing
December 2010

Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

Authors:
Alberta A H J Thiadens Ville Somervuo L Ingeborgh van den Born Susanne Roosing Mary J van Schooneveld Robert W A M Kuijpers Norka van Moll-Ramirez Frans P M Cremers Carel B Hoyng Caroline C W Klaver

Invest Ophthalmol Vis Sci 2010 Nov 23;51(11):5952-7. Epub 2010 Jun 23.

Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1167/iovs.10-5680DOI Listing
November 2010

Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.

Authors:
Alberta A H J Thiadens Susanne Roosing Rob W J Collin Norka van Moll-Ramirez Janneke J C van Lith-Verhoeven Mary J van Schooneveld Anneke I den Hollander L Ingeborgh van den Born Carel B Hoyng Frans P M Cremers Caroline C W Klaver

Ophthalmology 2010 Apr 15;117(4):825-30.e1. Epub 2010 Jan 15.

Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ophtha.2009.09.008DOI Listing
April 2010

Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia.

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

Mol Vis 2010 Apr 29;16:774-81. Epub 2010 Apr 29.

Department of Biosciences, COMSATS Institute of Information Technology, Chak Shahzad, Islamabad, Pakistan.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2862243PMC
April 2010

Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

Authors:
Alberta A H J Thiadens Niki W R Slingerland Susanne Roosing Mary J van Schooneveld Janneke J C van Lith-Verhoeven Norka van Moll-Ramirez L Ingeborgh van den Born Carel B Hoyng Frans P M Cremers Caroline C W Klaver

Ophthalmology 2009 Oct 9;116(10):1984-9.e1. Epub 2009 Jul 9.

Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ophtha.2009.03.053DOI Listing
October 2009

Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.

Authors:
Alberta A H J Thiadens Anneke I den Hollander Susanne Roosing Sander B Nabuurs Renate C Zekveld-Vroon Rob W J Collin Elfride De Baere Robert K Koenekoop Mary J van Schooneveld Tim M Strom Janneke J C van Lith-Verhoeven Andrew J Lotery Norka van Moll-Ramirez Bart P Leroy L Ingeborgh van den Born Carel B Hoyng Frans P M Cremers Caroline C W Klaver

Am J Hum Genet 2009 Aug 16;85(2):240-7. Epub 2009 Jul 16.

Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ajhg.2009.06.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2725240PMC
August 2009

A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.

Authors:
Karin W Littink Maria M van Genderen Rob W J Collin Susanne Roosing Arjan P M de Brouwer Frans C C Riemslag Hanka Venselaar Alberta A H J Thiadens Carel B Hoyng Klaus Rohrschneider Anneke I den Hollander Frans P M Cremers L Ingeborgh van den Born

Invest Ophthalmol Vis Sci 2009 May 13;50(5):2344-50. Epub 2008 Dec 13.

Rotterdam Eye Hospital, Rotterdam, The Netherlands.

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http://iovs.arvojournals.org/article.aspx?doi=10.1167/iovs.0
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http://dx.doi.org/10.1167/iovs.08-2553DOI Listing
May 2009