المؤلفون: Martijn H. Kemperman, H. Kremer, August F. Deutman, van Lith-Verhoeven Jj, F.P.M. Cremers, van den Helm B, H.M.A. Brink, de Jong Wh, Carel B. Hoyng

المصدر: Investigative Ophthalmology and Visual Science, 45, 1, pp. 30-5
Investigative Ophthalmology and Visual Science, 45, 30-5

مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Genetic Linkage, DNA Mutational Analysis, Visual Acuity, Locus (genetics), Biology, Macular Degeneration, Benign concentric annular macular dystrophy, Genetic linkage, Electroretinography, medicine, Humans, Point Mutation, Neurosensory disorders [UMCN 3.3], Eye Proteins, Aged, Glycoproteins, Genetics, Extracellular Matrix Proteins, Interphotoreceptor matrix proteoglycan 1, Chromosome Mapping, Dystrophy, Middle Aged, Macular dystrophy, medicine.disease, Pedigree, Stargardt disease, Amino Acid Substitution, Chromosomes, Human, Pair 6, Female, Proteoglycans, Lod Score, Follow-Up Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52309222e10be81d9d9358b0463eb8ad
https://doi.org/10.1167/iovs.03-0392

المؤلفون: Carel B. Hoyng, Frans P.M. Cremers, L. Ingeborgh van den Born, Sandro Banfi, Riccardo Sangermano, Susanne Roosing, Marijke N. Zonneveld-Vrieling, Caroline C W Klaver, Janneke J.C. van Lith-Verhoeven, Anneke I. den Hollander, Robert K. Koenekoop

المساهمون: Ophthalmology, Roosing, S, van den Born, Li, Sangermano, R, Banfi, Sandro, Koenekoop, Rk, Zonneveld Vrieling, Mn, Klaver, Cc, van Lith Verhoeven, Jj, Cremers, Fp, den Hollander, Ai, Hoyng, Cb

المصدر: Ophthalmology, 122(1), 170-179. Elsevier Inc.
Ophthalmology, 122, 170-9
Ophthalmology, 122, 1, pp. 170-9

مصطلحات موضوعية: Adult, Male, Proband, Pathology, medicine.medical_specialty, Achromatopsia, genetic structures, DNA Mutational Analysis, Sensory disorders Radboud Institute for Health Sciences [Radboudumc 12], Genome-wide association study, Compound heterozygosity, Macular Degeneration, Cone dystrophy, Electroretinography, medicine, Humans, Exome, Sensory disorders Radboud Institute for Molecular Life Sciences [Radboudumc 12], Exome sequencing, Aged, Genetics, business.industry, Lysosome-Associated Membrane Glycoproteins, Membrane Transport Proteins, Middle Aged, Macular dystrophy, medicine.disease, eye diseases, Pedigree, Ophthalmology, Mutation, Visual Field Tests, Female, Neuronal ceroid lipofuscinosis, sense organs, business, Tomography, Optical Coherence, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0967d9c0b457a9410dd2c37da13bdf2
https://doi.org/10.1016/j.ophtha.2014.07.040

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: van Asten F; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Evers-Birkenkamp KU, van Lith-Verhoeven JJ, de Jong-Hesse Y, Hoppenreijs VP, Hommersom RF, Scholten AM, Hoyng CB, Klaver JH

مؤلفون مشاركون: HELIOS study group

المصدر: Acta ophthalmologica [Acta Ophthalmol] 2015 Mar; Vol. 93 (2), pp. 126-33. Date of Electronic Publication: 2014 Dec 09.

نوع المنشور: Journal Article; Multicenter Study; Observational Study; 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: Angiogenesis Inhibitors/*administration & dosage , Antibodies, Monoclonal, Humanized/*administration & dosage , Wet Macular Degeneration/*drug therapy, Aged ; Aged, 80 and over ; Angiogenesis Inhibitors/adverse effects ; Antibodies, Monoclonal, Humanized/adverse effects ; Female ; Humans ; Intravitreal Injections ; Male ; Prospective Studies ; Quality of Life/psychology ; Ranibizumab ; Sickness Impact Profile ; Surveys and Questionnaires ; Tomography, Optical Coherence ; Treatment Outcome ; Vascular Endothelial Growth Factor A/antagonists & inhibitors ; Vision Disorders/prevention & control ; Visual Acuity/physiology ; Wet Macular Degeneration/physiopathology ; Wet Macular Degeneration/psychology

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: Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands; Current affiliation: Howard Hughes Medical Institute, The Rockefeller University, Department for Pediatric Brain Diseases, New York, New York., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands., Sangermano R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands., Banfi S; Telethon Institute of Genetics and Medicine, Naples, Italy; Medical Genetics, Department of Biochemistry, Biophysics, and General Pathology, Second University of Naples, Naples, Italy., Koenekoop RK; McGill Ocular Genetics Laboratory, McGill University Health Centre, Montreal, Quebec, Canada., Zonneveld-Vrieling MN; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Klaver CC; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands; Department of Epidemiology, Erasmus Medical Centre, Rotterdam, The Netherlands., van Lith-Verhoeven JJ; Department of Ophthalmology, St. Elisabeth Ziekenhuis, Tilburg, The Netherlands., Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands., den Hollander AI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: Anneke.denHollander@radboudumc.nl., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

المصدر: Ophthalmology [Ophthalmology] 2015 Jan; Vol. 122 (1), pp. 170-9. Date of Electronic Publication: 2014 Sep 13.

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: Mutation*, Lysosomal Membrane Proteins/*genetics , Macular Degeneration/*genetics , Membrane Transport Proteins/*genetics, Adult ; Aged ; DNA Mutational Analysis ; Electroretinography ; Exome/genetics ; Female ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged ; Pedigree ; Tomography, Optical Coherence ; Visual Field Tests

المؤلفون: Thiadens AA; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands., Roosing S, Collin RW, van Moll-Ramirez N, van Lith-Verhoeven JJ, van Schooneveld MJ, den Hollander AI, van den Born LI, Hoyng CB, Cremers FP, Klaver CC

المصدر: Ophthalmology [Ophthalmology] 2010 Apr; Vol. 117 (4), pp. 825-30.e1. Date of Electronic Publication: 2010 Jan 15.

نوع المنشور: Journal Article; Multicenter Study; 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: Mutation*, Color Vision Defects/*genetics , Cyclic Nucleotide-Gated Cation Channels/*genetics , Retinal Cone Photoreceptor Cells/*pathology , Retinal Degeneration/*genetics, Adolescent ; Adult ; Aged ; Child ; Color Perception Tests ; Color Vision Defects/diagnosis ; DNA Mutational Analysis ; Electroretinography ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Polymerase Chain Reaction ; Prospective Studies ; Retinal Degeneration/diagnosis ; Visual Acuity/physiology

المؤلفون: Thiadens AA; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands., Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC

المصدر: Ophthalmology [Ophthalmology] 2009 Oct; Vol. 116 (10), pp. 1984-9.e1. Date of Electronic Publication: 2009 Jul 09.

نوع المنشور: Journal Article; Multicenter Study; 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: Mutation*, Color Vision Defects/*genetics , Cyclic Nucleotide-Gated Cation Channels/*genetics , Retinal Degeneration/*genetics, Adult ; Color Vision/physiology ; Color Vision Defects/physiopathology ; DNA Mutational Analysis ; Female ; Follow-Up Studies ; Genotype ; Humans ; Male ; Phenotype ; Polymerase Chain Reaction ; Retinal Cone Photoreceptor Cells/physiology ; Retinal Degeneration/physiopathology ; Transducin/genetics ; Visual Acuity/physiology

المؤلفون: Thiadens AA; Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands., den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM, van Lith-Verhoeven JJ, Lotery AJ, van Moll-Ramirez N, Leroy BP, van den Born LI, Hoyng CB, Cremers FP, Klaver CC

المصدر: American journal of human genetics [Am J Hum Genet] 2009 Aug; Vol. 85 (2), pp. 240-7. Date of Electronic Publication: 2009 Jul 16.

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: Homozygote* , Mutation*, Color Vision Defects/*genetics , Cyclic Nucleotide Phosphodiesterases, Type 6/*genetics , Eye Proteins/*genetics , Retinal Cone Photoreceptor Cells/*enzymology, Base Sequence ; Case-Control Studies ; Chromosome Mapping ; Chromosomes, Human, Pair 10 ; Consanguinity ; Electroretinography ; Female ; Frameshift Mutation ; Genes, Recessive ; Genome-Wide Association Study ; Humans ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation, Missense ; Pedigree ; Polymorphism, Single Nucleotide ; Retinal Cone Photoreceptor Cells/physiology

المؤلفون: Stalenhoef AF; Department of General Internal Medicine and Vascular Medicine, Radboud University Nijmegen Medical Centre, the Netherlands. A.Stalenhoef@aig.umcn.nl, van Lith-Verhoeven JJ

المصدر: The Netherlands journal of medicine [Neth J Med] 2007 Dec; Vol. 65 (11), pp. 461-2.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Van Zuiden Communications Country of Publication: Netherlands NLM ID: 0356133 Publication Model: Print Cited Medium: Print ISSN: 0300-2977 (Print) Linking ISSN: 03002977 NLM ISO Abbreviation: Neth J Med Subsets: MEDLINE

مواضيع طبية MeSH: Diabetes Mellitus, Type 2/*physiopathology , Hyperglycemia/*physiopathology , Retinal Diseases/*diagnosis, Adult ; Diabetes Mellitus, Type 2/complications ; Diabetes Mellitus, Type 2/drug therapy ; Humans ; Insulin ; Male ; Metformin ; Retinal Diseases/etiology ; Vision Disorders/diagnosis ; Vision Disorders/etiology