المؤلفون: Sangermano, R, Garanto, A, Khan, M, Runhart, EH, Bauwens, M, Bax, NM, van den Born, LI, Khan, MI, Cornelis, SS, Verheij, JBGM, Pott, JWR, Thiadens, AAHJ, Klaver, CCW, Puech, B, Meunier, I, Naessens, S, Arno, G, Fakin, A, Carss, KJ, Raymond, FL, Webster, AR, Dhaenens, CM, Stohr, H, Grassmann, F, Weber, BHF, Hoyng, CB, De Baere, E, Albert, S, Collin, RWJ, Cremers, FPM

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 21(8):1751-1760

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:141534735

المؤلفون: Cornelis SS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., IntHout J; Radboud Institute for Health Sciences, Department for Health Evidence, Radboud University Medical Center, Nijmegen, the Netherlands., Runhart EH; Rotterdam Ophthalmic Institute, The Rotterdam Eye Hospital, Rotterdam, the Netherlands., Grunewald O; Lille Neuroscience & Cognition, University of Lille, Inserm, CHU Lille, Lille, France., Lin S; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Corradi Z; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Khan M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands., Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Whelan L; Smurfit Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, Dublin, Ireland., Farrar GJ; Smurfit Institute of Genetics, School of Genetics and Microbiology, Trinity College Dublin, Dublin, Ireland., Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., van den Born LI; Rotterdam Ophthalmic Institute, The Rotterdam Eye Hospital, Rotterdam, the Netherlands., Arno G; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Simcoe M; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Michaelides M; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Webster AR; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Mahroo OA; National Institute of Health Research Biomedical Research Centre at Moorfields Eye Hospital and the UCL Institute of Ophthalmology, London, United Kingdom., Dhaenens CM; Lille Neuroscience & Cognition, University of Lille, Inserm, CHU Lille, Lille, France., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.

مؤلفون مشاركون: Study Group

المصدر: JAMA ophthalmology [JAMA Ophthalmol] 2024 May 01; Vol. 142 (5), pp. 463-471.

نوع المنشور: Journal Article; Meta-Analysis

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589539 Publication Model: Print Cited Medium: Internet ISSN: 2168-6173 (Electronic) Linking ISSN: 21686165 NLM ISO Abbreviation: JAMA Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: ATP-Binding Cassette Transporters*/genetics, Humans ; Female ; Male ; Sex Distribution ; Retinal Diseases/genetics ; Retinal Diseases/diagnosis ; Alleles ; Mutation

المؤلفون: Li CHZ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Pas JAAH; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Corradi Z; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands; Academic Alliance Genetics, Radboud University Medical Center, Nijmegen, and Maastricht University Medical Center+, Maastricht, The Netherlands., Hitti-Malin RJ; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands; Academic Alliance Genetics, Radboud University Medical Center, Nijmegen, and Maastricht University Medical Center+, Maastricht, The Netherlands., Hoogstede A; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Runhart EH; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Dhooge PPA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Collin RWJ; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands; Academic Alliance Genetics, Radboud University Medical Center, Nijmegen, and Maastricht University Medical Center+, Maastricht, The Netherlands., Cremers FPM; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands; Academic Alliance Genetics, Radboud University Medical Center, Nijmegen, and Maastricht University Medical Center+, Maastricht, The Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: carel.hoyng@radboudumc.nl.

المصدر: Ophthalmology [Ophthalmology] 2024 Jan; Vol. 131 (1), pp. 87-97. Date of Electronic Publication: 2023 Aug 19.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7802443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-4713 (Electronic) Linking ISSN: 01616420 NLM ISO Abbreviation: Ophthalmology Subsets: MEDLINE

مواضيع طبية MeSH: ATP-Binding Cassette Transporters*/genetics , Retinal Degeneration*, Humans ; Middle Aged ; Aged ; Aged, 80 and over ; Stargardt Disease ; Retrospective Studies ; Electroretinography ; Tomography, Optical Coherence ; Atrophy ; Disease Progression ; Fluorescein Angiography

المؤلفون: Runhart EH; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands., Dhooge P; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands., Meester-Smoor M; Department of Ophthalmology, Erasmus University Medical Centre, Rotterdam, the Netherlands., Pas J; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands., Pott JWR; Department of Ophthalmology, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., van Leeuwen R; Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, the Netherlands., Kroes HY; Department of Genetics, University Medical Centre Utrecht, Utrecht, the Netherlands., Bergen AA; Department of Clinical Genetics, Academic Medical Centre, Amsterdam, the Netherlands.; The Netherlands Institute for Neuroscience (NIN-KNAW), Amsterdam, the Netherlands., de Jong-Hesse Y; Department of Ophthalmology, Amsterdam University Medical Centres, Amsterdam, the Netherlands., Thiadens AA; Department of Ophthalmology, Erasmus University Medical Centre, Rotterdam, the Netherlands., van Schooneveld MJ; Department of Ophthalmology, Amsterdam University Medical Centres, Amsterdam, the Netherlands.; Bartiméus Diagnostic Centre for Complex Visual Disorders, Zeist, the Netherlands., van Genderen M; Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, the Netherlands.; Bartiméus Diagnostic Centre for Complex Visual Disorders, Zeist, the Netherlands., Boon C; Department of Ophthalmology, Amsterdam University Medical Centres, Amsterdam, the Netherlands.; Department of Ophthalmology, Leiden University Medical Centre, Leiden, the Netherlands., Klaver C; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus University Medical Centre, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus University Medical Centre, Rotterdam, the Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, the Netherlands.; Rotterdam Ophthalmic Institute, Rotterdam, the Netherlands., Cremers FPM; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, the Netherlands.

المصدر: Acta ophthalmologica [Acta Ophthalmol] 2022 Jun; Vol. 100 (4), pp. 395-402. Date of Electronic Publication: 2021 Aug 25.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101468102 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1755-3768 (Electronic) Linking ISSN: 1755375X NLM ISO Abbreviation: Acta Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: ATP-Binding Cassette Transporters*/genetics , Delayed Diagnosis*, Female ; Humans ; Incidence ; Male ; Mutation ; Netherlands/epidemiology ; Registries ; Retrospective Studies ; Stargardt Disease

المؤلفون: Cornelis SS; Department of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 Nijmegen, the Netherlands., Runhart EH; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 Nijmegen, the Netherlands; Department of Ophthalmology, Radboud University Medical Center, 6525 Nijmegen, the Netherlands., Bauwens M; Center for Medical Genetics Ghent and Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium., Corradi Z; Department of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 Nijmegen, the Netherlands., De Baere E; Center for Medical Genetics Ghent and Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, 9000 Ghent, Belgium., Roosing S; Department of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 Nijmegen, the Netherlands., Haer-Wigman L; Department of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 Nijmegen, the Netherlands., Dhaenens CM; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience and Cognition, 59000 Lille, France., Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 Nijmegen, the Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Center, 6525 Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 Nijmegen, the Netherlands. Electronic address: frans.cremers@radboudumc.nl.

المصدر: American journal of human genetics [Am J Hum Genet] 2022 Mar 03; Vol. 109 (3), pp. 498-507. Date of Electronic Publication: 2022 Feb 03.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: ATP-Binding Cassette Transporters*/genetics , Genetic Counseling*, Cross-Sectional Studies ; Humans ; Mutation ; Stargardt Disease/genetics

المؤلفون: Dhooge PPA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Runhart EH; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Li CHZ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., de Kat Angelino CM; Department of Laboratory Medicine, Laboratory of Medical Immunology, Radboud University Medical Center, Nijmegen, The Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., van der Molen RG; Department of Laboratory Medicine, Laboratory of Medical Immunology, Radboud University Medical Center, Nijmegen, The Netherlands., den Hollander AI; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

المصدر: PloS one [PLoS One] 2021 Jun 25; Vol. 16 (6), pp. e0253716. Date of Electronic Publication: 2021 Jun 25 (Print Publication: 2021).

نوع المنشور: Clinical Trial; Comparative Study; Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

مواضيع طبية MeSH: Complement Activation* , Sex Characteristics*, Complement C3d/*metabolism , Retinal Pigment Epithelium/*metabolism , Stargardt Disease/*blood , Stargardt Disease/*metabolism, Adolescent ; Adult ; Aged ; Aged, 80 and over ; Cross-Sectional Studies ; Female ; Humans ; Male ; Middle Aged

المؤلفون: Dhooge PPA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Runhart EH; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Lambertus S; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Bax NM; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Groenewoud JMM; Department for Health Evidence, Radboud University Medical Center, Nijmegen, The Netherlands., Klevering BJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

المصدر: Translational vision science & technology [Transl Vis Sci Technol] 2021 Mar 01; Vol. 10 (3), pp. 18.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Association for Research in Vision and Ophthalmology Country of Publication: United States NLM ID: 101595919 Publication Model: Print Cited Medium: Internet ISSN: 2164-2591 (Electronic) Linking ISSN: 21642591 NLM ISO Abbreviation: Transl Vis Sci Technol Subsets: MEDLINE

مواضيع طبية MeSH: Tomography, Optical Coherence* , Visual Field Tests*, Fluorescein Angiography ; Fundus Oculi ; Humans ; Longitudinal Studies ; Prospective Studies ; Stargardt Disease ; Zinc Phosphate Cement

المؤلفون: Runhart EH; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Khan M; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Cornelis SS; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Roosing S; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Del Pozo-Valero M; Department of Genetics, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid, Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases, Instituto de Salud Carlos III, Madrid, Spain., Lamey TM; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, Western Australia, Australia.; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia., Liskova P; Research Unit for Rare Diseases, Department of Pediatrics 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., 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, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa., Stöhr H; Institute of Human Genetics, University of Regensburg, Regensburg, Germany., Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, the Netherlands.; Department of Epidemiology, Erasmus Medical Center, Rotterdam, the Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Cremers FPM; Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Dhaenens CM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; University Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, Lille, France.

مؤلفون مشاركون: Disease Consortium Study Group

المصدر: JAMA ophthalmology [JAMA Ophthalmol] 2020 Oct 01; Vol. 138 (10), pp. 1035-1042.

نوع المنشور: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589539 Publication Model: Print Cited Medium: Internet ISSN: 2168-6173 (Electronic) Linking ISSN: 21686165 NLM ISO Abbreviation: JAMA Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, ATP-Binding Cassette Transporters/*genetics , DNA/*genetics , Stargardt Disease/*genetics, ATP-Binding Cassette Transporters/metabolism ; Alleles ; Cross-Sectional Studies ; DNA Mutational Analysis ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Middle Aged ; Sex Distribution ; Sex Factors ; Stargardt Disease/diagnosis

المؤلفون: 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.

المصدر: 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.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Macular Degeneration*/genetics , Transcriptome*, ATP-Binding Cassette Transporters/genetics ; Genomics ; Humans ; Introns ; Mutation ; Pedigree ; Stargardt Disease

المؤلفون: Valkenburg D; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Runhart EH; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Bax NM; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Liefers B; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Radiology, Radboud University Medical Center, Nijmegen, The Netherlands., Lambertus SL; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Sánchez CI; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Radiology, Radboud University Medical Center, Nijmegen, The Netherlands., Cremers FPM; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: carel.hoyng@radboudumc.nl.

المصدر: Ophthalmology [Ophthalmology] 2019 Dec; Vol. 126 (12), pp. 1712-1721. Date of Electronic Publication: 2019 Jul 16.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 7802443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1549-4713 (Electronic) Linking ISSN: 01616420 NLM ISO Abbreviation: Ophthalmology Subsets: MEDLINE

مواضيع طبية MeSH: Siblings*, Stargardt Disease/*genetics , Stargardt Disease/*pathology, ATP-Binding Cassette Transporters/genetics ; Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Electroretinography ; Female ; Fluorescein Angiography ; Follow-Up Studies ; Genetic Association Studies ; Humans ; Male ; Middle Aged ; Phenotype ; Retrospective Studies ; Tomography, Optical Coherence ; Vision Disorders/pathology ; Visual Acuity/physiology ; Young Adult