Resolving the dark matter of ABCA4 for 1054 Stargardt disease probands through integrated genomics and transcriptomics.

Autor: Khan M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Cornelis SS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Pozo-Valero MD; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Genetics, IIS-Fundación Jiménez Díaz, CIBERER, Madrid, Spain., Whelan L; The School of Genetics & Microbiology, Trinity College Dublin, Dublin, Ireland., Runhart EH; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Mishra K; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Bults F; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., AlSwaiti Y; St John of Jerusalem Eye Hospital Group, East Jerusalem, Palestine., AlTalbishi A; St John of Jerusalem Eye Hospital Group, East Jerusalem, Palestine., De Baere E; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium., Banfi S; Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples and Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Bauwens M; Center for Medical Genetics Ghent, Ghent University and Ghent University Hospital, Ghent, Belgium., Ben-Yosef T; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Boon CJF; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands.; Department of Ophthalmology, Amsterdam University Medical Centers, Amsterdam, The Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands.; The Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands., Defoort S; Service d'exploration de la vision et neuro-ophtalmologie, Centre Hospitalier Universitaire de Lille, Lille, France., Devos A; Univ. Lille, Inserm, CHU Lille, U1172 - LilNCog - Lille Neuroscience & Cognition, F-59000, Lille, France., Dockery A; The School of Genetics & Microbiology, Trinity College Dublin, Dublin, Ireland., Dudakova L; Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Fakin A; Eye Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia., Farrar GJ; The School of Genetics & Microbiology, Trinity College Dublin, Dublin, Ireland., Sallum JMF; Department of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo, São Paulo, SP, Brazil.; Instituto de Genética Ocular, São Paulo, SP, Brazil., Fujinami K; UCL Institute of Ophthalmology, London, UK.; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.; Graduate School of Health Management, Keio University, Tokyo, Japan.; Moorfields Eye Hospital, London, UK., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Glavač D; Department of Molecular Genetics, Institute of Pathology, University of Ljubljana, Ljubljana, Slovenia., Gorin MB; Department of Ophthalmology, David Geffen School of Medicine, Stein Eye Institute, University of California-Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA., Greenberg J; University of Cape Town/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Hayashi T; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo, Japan., Hettinga YM; Bartiméus Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoyng CB; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Hufendiek K; University Eye Hospital Hannover Medical School, Hannover, Germany., Jägle H; Department of Ophthalmology, University Hospital, University Regensburg, Regensburg, Germany., Kamakari S; Ophthalmic Genetics Unit, OMMA Ophthalmological Institute of Athens, Athens, Greece., Karali M; Department of Precision Medicine, University of Campania Luigi Vanvitelli, Naples and Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Kellner U; Rare Retinal Disease Center, AugenZentrum Siegburg, MVZ ADTC Siegburg GmbH, Siegburg, Germany.; RetinaScience, Bonn, Germany., Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands.; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands., Kousal B; Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Lamey TM; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA, Australia., MacDonald IM; Departments of Ophthalmology and Medical Genetics, University of Alberta, Edmonton, AB, Canada., Matynia A; Department of Ophthalmology, David Geffen School of Medicine, Stein Eye Institute, University of California-Los Angeles, Los Angeles, CA, USA.; Department of Human Genetics, David Geffen School of Medicine, University of California-Los Angeles, Los Angeles, CA, USA., McLaren TL; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA, Australia., Mena MD; Laboratory of Molecular and Cellular Therapy, Fundacion Instituto Leloir-CONICET, Buenos Aires, Argentina., Meunier I; Institut des Neurosciences de Montpellier, INSERM, Université de Montpellier, Montpellier, France., Miller R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Newman H; Department of Ophthalmology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Ntozini B; University of Cape Town/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Oldak M; Department of Histology and Embryology, Medical University of Warsaw, Warsaw, Poland., Pieterse M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Podhajcer OL; Laboratory of Molecular and Cellular Therapy, Fundacion Instituto Leloir-CONICET, Buenos Aires, Argentina., Puech B; Service d'exploration de la vision et neuro-ophtalmologie, Centre Hospitalier Universitaire de Lille, Lille, France., Ramesar R; University of Cape Town/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Rüther K; Augenarztpraxis, Dorotheenstraße, Berlin, Germany., Salameh M; St John of Jerusalem Eye Hospital Group, East Jerusalem, Palestine., Salles MV; Department of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo, São Paulo, SP, Brazil.; Instituto de Genética Ocular, São Paulo, SP, Brazil., Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Simonelli F; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania Luigi Vanvitelli, Naples, Italy., Spital G; Department of Ophthalmology, St. Franziskus-Hospital, Münster, Germany., Steehouwer M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Szaflik JP; Department of Ophthalmology, Medical University of Warsaw SPKSO Ophthalmic University Hospital, Warsaw, Poland., Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA, Australia., Thuillier C; CHU Lille, Institut de Génétique Médicale, Lille, France., Tracewska AM; DNA Analysis Unit, ŁUKASIEWICZ Research Network-PORT Polish Center for Technology Development, Wroclaw, Poland., van Zweeden M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Vincent AL; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Grafton, Auckland, New Zealand.; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland, New Zealand., Zanlonghi X; Centre de Compétence Maladie Rare, Clinique Jules Verne, Nantes, France., Liskova P; Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic., Stöhr H; Institute of Human Genetics, University of Regensburg, Regensburg, Germany., Roach JN; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA, Australia., Ayuso C; Department of Genetics, IIS-Fundación Jiménez Díaz, CIBERER, Madrid, Spain., Roberts L; University of Cape Town/MRC Genomic and Precision Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Weber BHF; Institute of Human Genetics, University of Regensburg, Regensburg, Germany., Dhaenens CM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Univ. Lille, Inserm, CHU Lille, U1172 - LilNCog - Lille Neuroscience & Cognition, F-59000, Lille, France., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. frans.cremers@radboudumc.nl.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. frans.cremers@radboudumc.nl.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2020 Jul; Vol. 22 (7), pp. 1235-1246. Date of Electronic Publication: 2020 Apr 20.

The value of measuring urinary β2-microglobulin and serum creatinine for detecting tubulointerstitial nephritis and uveitis syndrome in young patients with uveitis.

Autor: Hettinga YM; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, the Netherlands., Scheerlinck LM; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, the Netherlands., Lilien MR; Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, the Netherlands., Rothova A; Department of Ophthalmology, Erasmus Medical Center Rotterdam, Rotterdam, the Netherlands., de Boer JH; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, the Netherlands.

Publikováno v: JAMA ophthalmology [JAMA Ophthalmol] 2015 Feb; Vol. 133 (2), pp. 140-5.

Characteristics of childhood uveitis leading to visual impairment and blindness in the Netherlands.

Autor: Hettinga YM; Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, The Netherlands; Bartiméus, Zeist, The Netherlands., Verhagen FH, van Genderen M, de Boer JH

Publikováno v: Acta ophthalmologica [Acta Ophthalmol] 2014 Dec; Vol. 92 (8), pp. 798-804. Date of Electronic Publication: 2014 Jun 29.

[Clinical reasoning and decision-making in practice. A patient with loss of vision and painful legs].

Autor: Niermeijer JM; Universitair Medisch Centrum Utrecht. j.m.f.niermeijer@umcutrecht.nl, Hettinga YM, Wokke JH, Rothová A, Hart W

Publikováno v: Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2006 May 27; Vol. 150 (21), pp. 1173-8.