المؤلفون: Saksens NT; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., van Huet RA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., van Lith-Verhoeven JJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Ophthalmology, St. Elisabeth Hospital, Tilburg, The Netherlands., den Hollander AI; Department of Ophthalmology, 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., Boon CJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: C.J.F.Boon@lumc.nl.

المصدر: Ophthalmology [Ophthalmology] 2015 Oct; Vol. 122 (10), pp. e60.

نوع المنشور: Letter; Comment

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

مواضيع طبية MeSH: Macular Edema*, Female ; Humans ; Male

المؤلفون: Teussink MM; Department of Ophthalmology, Radboud University Medical Center (Radboudumc), Nijmegen, Netherlands., Lee MD; Department of Ophthalmology, Columbia University, New York, New York., Smith RT; Department of Ophthalmology, New York University School of Medicine, New York, New York., van Huet RA; Department of Ophthalmology, Radboud University Medical Center (Radboudumc), Nijmegen, Netherlands., Klaver CC; Erasmus University Medical Center, Rotterdam, Netherlands., Klevering BJ; Department of Ophthalmology, Radboud University Medical Center (Radboudumc), Nijmegen, Netherlands., Theelen T; Department of Ophthalmology, Radboud University Medical Center (Radboudumc), Nijmegen, Netherlands. Electronic address: Thomas.Theelen@radboudumc.nl., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center (Radboudumc), Nijmegen, Netherlands.

المصدر: American journal of ophthalmology [Am J Ophthalmol] 2015 May; Vol. 159 (5), pp. 964-72.e2. Date of Electronic Publication: 2015 Feb 11.

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

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0370500 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1879-1891 (Electronic) Linking ISSN: 00029394 NLM ISO Abbreviation: Am J Ophthalmol Subsets: MEDLINE

مواضيع طبية MeSH: Contact Lenses* , Light* , Sensory Deprivation*, Macular Degeneration/*congenital , Radiation Protection/*methods, ATP-Binding Cassette Transporters/genetics ; Adolescent ; Adult ; Child ; Female ; Follow-Up Studies ; Humans ; Lipofuscin/metabolism ; Macular Degeneration/diagnosis ; Macular Degeneration/genetics ; Macular Degeneration/physiopathology ; Macular Degeneration/therapy ; Male ; Middle Aged ; Mutation/genetics ; Radiation Protection/instrumentation ; Retinal Pigment Epithelium/pathology ; Retrospective Studies ; Stargardt Disease ; Young Adult

SCR Disease Name: Stargardt disease 1

المؤلفون: van Huet RA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Pierrache LH; The Rotterdam Eye Hospital, Rotterdam, The Netherlands ; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands., Meester-Smoor MA; The Rotterdam Eye Hospital, Rotterdam, The Netherlands ; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands., Klaver CC; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands ; Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., de Wijs IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Collin RW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, Nijmegen, The Netherlands., Hoefsloot LH; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands., Klevering BJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

المصدر: Molecular vision [Mol Vis] 2015 Apr 28; Vol. 21, pp. 461-76. Date of Electronic Publication: 2015 Apr 28 (Print Publication: 2015).

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

بيانات الدورية: Publisher: Molecular Vision Country of Publication: United States NLM ID: 9605351 Publication Model: eCollection Cited Medium: Internet ISSN: 1090-0535 (Electronic) Linking ISSN: 10900535 NLM ISO Abbreviation: Mol Vis Subsets: MEDLINE

مواضيع طبية MeSH: Genes, Recessive*, Genetic Testing/*methods , Oligonucleotide Array Sequence Analysis/*methods , Retinitis Pigmentosa/*genetics, Cohort Studies ; DNA Mutational Analysis/methods ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Retinitis Pigmentosa/diagnosis ; Retrospective Studies

المؤلفون: Maria Oonk AM; 1Department of Otorhinolaryngology, Hearing and Genes, Radboud University Medical Center, Nijmegen, The Netherlands; 2Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands; 3Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; 4Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands; 5Centre for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, The Netherlands; and 6Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands., van Huet RA, Leijendeckers JM, Oostrik J, Venselaar H, van Wijk E, Beynon A, Kunst HP, Hoyng CB, Kremer H, Schraders M, Pennings RJ

المصدر: Ear and hearing [Ear Hear] 2015 Mar-Apr; Vol. 36 (2), pp. 205-11.

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

بيانات الدورية: Publisher: Williams And Wilkins Country of Publication: United States NLM ID: 8005585 Publication Model: Print Cited Medium: Internet ISSN: 1538-4667 (Electronic) Linking ISSN: 01960202 NLM ISO Abbreviation: Ear Hear Subsets: MEDLINE

مواضيع طبية MeSH: Hearing Loss, Sensorineural/*genetics , Nerve Tissue Proteins/*genetics, Audiometry, Pure-Tone ; Female ; Frameshift Mutation ; Hearing Loss, Sensorineural/physiopathology ; Humans ; Male ; Mutation, Missense ; Pedigree ; Usher Syndromes/genetics

المؤلفون: Lambertus S; Department of Ophthalmology, Radboud university medical center, Nijmegen, The Netherlands., van Huet RA; Department of Ophthalmology, Radboud university medical center, Nijmegen, The Netherlands., Bax NM; Department of Ophthalmology, Radboud university medical center, Nijmegen, The Netherlands., Hoefsloot LH; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands., Cremers FP; Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud university medical center, Nijmegen, The Netherlands., Boon CJ; Department of Ophthalmology, Radboud university medical center, Nijmegen, The Netherlands; Department of Ophthalmology, Leiden University Medical Center, Leiden, 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. Electronic address: Carel.Hoyng@radboudumc.nl.

المصدر: Ophthalmology [Ophthalmology] 2015 Feb; Vol. 122 (2), pp. 335-44. Date of Electronic Publication: 2014 Oct 17.

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: DNA Mutational Analysis* , Genotype* , Phenotype*, ATP-Binding Cassette Transporters/*genetics , Macular Degeneration/*congenital, Adolescent ; Adult ; Age of Onset ; Child ; Child, Preschool ; Electroretinography ; Female ; Fluorescein Angiography ; Humans ; Infant ; Macular Degeneration/diagnosis ; Macular Degeneration/epidemiology ; Macular Degeneration/genetics ; Male ; Middle Aged ; Ophthalmoscopy ; Retrospective Studies ; Stargardt Disease ; Tomography, Optical Coherence ; Visual Acuity/physiology ; Young Adult

SCR Disease Name: Stargardt disease 1

المؤلفون: van Huet RA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Siemiatkowska AM, Özgül RK, Yücel D, Hoyng CB, Banin E, Blumenfeld A, Rotenstreich Y, Riemslag FC, den Hollander AI, Theelen T, Collin RW, van den Born LI, Klevering BJ

المصدر: Acta ophthalmologica [Acta Ophthalmol] 2015 Feb; Vol. 93 (1), pp. 83-94. Date of Electronic Publication: 2014 Nov 11.

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

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: Codon, Nonsense* , Mutation, Missense*, Photoreceptor Connecting Cilium/*metabolism , Protein Serine-Threonine Kinases/*genetics , Retinitis Pigmentosa/*genetics, Adult ; Aged ; Electroretinography ; Female ; Fluorescein Angiography ; Humans ; Male ; Middle Aged ; Pedigree ; Phenotype ; Protein Serine-Threonine Kinases/metabolism ; Retinitis Pigmentosa/pathology ; Surveys and Questionnaires ; Tomography, Optical Coherence ; Visual Field Tests ; Young Adult

المؤلفون: Saksens NT; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., van Huet RA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., van Lith-Verhoeven JJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Ophthalmology, St. Elisabeth Hospital, Tilburg, The Netherlands., den Hollander AI; Department of Ophthalmology, 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., Boon CJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: C.J.F.Boon@lumc.nl.

المصدر: Ophthalmology [Ophthalmology] 2015 Jan; Vol. 122 (1), pp. 180-91. Date of Electronic Publication: 2014 Sep 26.

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: Macular Edema*/classification , Macular Edema*/diagnosis , Macular Edema*/genetics, Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Chromosome Mapping ; Chromosomes, Human, Pair 7/genetics ; Color Perception Tests ; Electrooculography ; Electroretinography ; Female ; Fluorescein Angiography ; Follow-Up Studies ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Pedigree ; Retrospective Studies ; Tomography, Optical Coherence ; Visual Acuity/physiology

المؤلفون: van Huet RA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Oomen CJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Plomp AS; Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands., van Genderen MM; Bartiméus, Institute for the Visually Impaired, Zeist, The Netherlands., Klevering BJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Schlingemann RO; Department of Ophthalmology, Academic Medical Center, Amsterdam, The Netherlands., Klaver CC; Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands., Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.

مؤلفون مشاركون: RD5000 Study Group

المصدر: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2014 Nov 17; Vol. 55 (11), pp. 7355-60. Date of Electronic Publication: 2014 Nov 17.

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

بيانات الدورية: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Electronic Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Mutation* , Retinal Diseases*/diagnosis , Retinal Diseases*/genetics , Retinal Diseases*/therapy, DNA/*genetics , Retina/*pathology, DNA Mutational Analysis ; Databases, Factual ; Humans

المؤلفون: Smailhodzic D; Department of Ophthalmology, Radboud university medical center, Nijmegen, the Netherlands., van Asten F; Department of Ophthalmology, Radboud university medical center, Nijmegen, the Netherlands., Blom AM; Section of Medical Protein Chemistry, Department of Laboratory Medicine Malmo, Lund University, Malmo, Sweden., Mohlin FC; Section of Medical Protein Chemistry, Department of Laboratory Medicine Malmo, Lund University, Malmo, Sweden., den Hollander AI; Department of Ophthalmology, Radboud university medical center, Nijmegen, the Netherlands; Department of Human Genetics, Radboud university medical center, Nijmegen, the Netherlands., van de Ven JP; Department of Ophthalmology, Radboud university medical center, Nijmegen, the Netherlands., van Huet RA; Department of Ophthalmology, Radboud university medical center, Nijmegen, the Netherlands., Groenewoud JM; Department for Health Evidence, Radboud university medical center, Nijmegen, the Netherlands., Tian Y; University Eye Clinic Maastricht, Maastricht, the Netherlands., Berendschot TT; University Eye Clinic Maastricht, Maastricht, the Netherlands., Lechanteur YT; Department of Ophthalmology, Radboud university medical center, Nijmegen, the Netherlands., Fauser S; Department of Ophthalmology, University of Cologne, Cologne, Germany., de Bruijn C; Innomedics, Düsseldorf, Germany., Daha MR; Department of Nephrology, Leiden University Medical Center, Leiden, the Netherlands., van der Wilt GJ; Department for Health Evidence, Radboud university medical center, Nijmegen, the Netherlands., Hoyng CB; Department of Ophthalmology, Radboud university medical center, Nijmegen, the Netherlands., Klevering BJ; Department of Ophthalmology, Radboud university medical center, Nijmegen, the Netherlands.

المصدر: PloS one [PLoS One] 2014 Nov 13; Vol. 9 (11), pp. e112682. Date of Electronic Publication: 2014 Nov 13 (Print Publication: 2014).

نوع المنشور: Clinical Trial; Journal Article; Randomized Controlled Trial; 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: Dietary Supplements*, Complement Activation/*drug effects , Complement C3/*metabolism , Complement C3d/*metabolism , Macular Degeneration/*diet therapy , Zinc Sulfate/*administration & dosage, Aged ; Aged, 80 and over ; Cells, Cultured ; Complement C3/immunology ; Complement C3d/immunology ; Complement C5a/immunology ; Complement C5a/metabolism ; Complement Factor B/immunology ; Complement Factor B/metabolism ; Complement Factor H/immunology ; Complement Factor H/metabolism ; Copper Sulfate/administration & dosage ; Epithelial Cells/cytology ; Epithelial Cells/drug effects ; Epithelial Cells/immunology ; Female ; Gene Expression ; Humans ; Macular Degeneration/blood ; Macular Degeneration/immunology ; Macular Degeneration/pathology ; Male ; Mutation ; Proteins/genetics ; Proteins/immunology ; Retina/drug effects ; Retina/immunology ; Retina/pathology ; Retinal Pigment Epithelium/cytology ; Retinal Pigment Epithelium/drug effects ; Retinal Pigment Epithelium/immunology

المؤلفون: van Huet RA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Bax NM; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Westeneng-Van Haaften SC; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Muhamad M; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Zonneveld-Vrieling MN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoefsloot LH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Nijmegen Center of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Boon CJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands Department of Ophthalmology, Leiden University Medical Center, Leiden, 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: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2014 Oct 16; Vol. 55 (11), pp. 7467-78. Date of Electronic Publication: 2014 Oct 16.

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

بيانات الدورية: Publisher: Association For Research In Vision And Ophthalmology (Arvo) Country of Publication: United States NLM ID: 7703701 Publication Model: Electronic Cited Medium: Internet ISSN: 1552-5783 (Electronic) Linking ISSN: 01460404 NLM ISO Abbreviation: Invest Ophthalmol Vis Sci Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, ATP-Binding Cassette Transporters/*genetics , DNA/*genetics , Fovea Centralis/*pathology , Retinal Pigment Epithelium/*pathology, ATP-Binding Cassette Transporters/metabolism ; Adult ; Aged ; DNA Mutational Analysis ; Electroretinography ; Female ; Fluorescein Angiography ; Fovea Centralis/metabolism ; Fundus Oculi ; Humans ; Macular Degeneration/diagnosis ; Macular Degeneration/genetics ; Macular Degeneration/metabolism ; Male ; Middle Aged ; Ophthalmoscopy ; Retinal Pigment Epithelium/metabolism ; Rod Cell Outer Segment ; Stargardt Disease ; Tomography, Optical Coherence ; Visual Acuity

SCR Disease Name: Stargardt disease 1