المؤلفون: Ellen A.W. Blokland, Frans P.M. Cremers, Lina Zelinger, Dikla Bandah-Rozenfeld, Dirk J. Lefeber, Tim M. Strom, Karlien L.M. Coene, Francesco Testa, Inbar Erdinest, Caroline C W Klaver, Francesca Simonelli, Anneke I. den Hollander, Krysta Voesenek, L. Ingeborgh van den Born, Anna M. Siemiatkowska, Raheel Qamar, Rob W.J. Collin, Muhammad Imran Khan, Dror Sharon, Sandro Banfi, Eyal Banin

المساهمون: Hematology, Ophthalmology, Bandah Rozenfeld, D, Collin, Rw, Banin, E, Ingeborgh van den Born, L, Coene, Kl, Siemiatkowska, Am, Zelinger, L, Khan, Mi, Lefeber, Dj, Erdinest, I, Testa, Francesco, Simonelli, Francesca, Voesenek, K, Blokland, Ea, Strom, Tm, Klaver, Cc, Qamar, R, Banfi, Sandro, Cremers, Fp, Sharon, D, den Hollander, Ai

المصدر: American Journal of Human Genetics, 87(2), 199-208. Cell Press
American Journal of Human Genetics, 87, 2, pp. 199-208
American Journal of Human Genetics, 87, 199-208

مصطلحات موضوعية: Adult, Male, Genetics and epigenetic pathways of disease [NCMLS 6], Fundus Oculi, Genetic Linkage, Nonsense mutation, DNA Mutational Analysis, Molecular Sequence Data, Genes, Recessive, Gene mutation, Biology, Interphotoreceptor matrix, Neuroinformatics [DCN 3], medicine.disease_cause, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Exon, Chromosome Segregation, Retinitis pigmentosa, Chlorocebus aethiops, medicine, Genetics, Missense mutation, Animals, Humans, Genetics(clinical), Amino Acid Sequence, Genetics (clinical), Aged, Mutation, Base Sequence, Homozygote, Chromosome Mapping, Glycostation disorders [IGMD 4], Middle Aged, medicine.disease, Pedigree, COS Cells, Mutation testing, Female, Mutant Proteins, Proteoglycans, Retinitis Pigmentosa, Subcellular Fractions

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3eeb833962b9fd1bf931d4b8d99275e0
https://europepmc.org/articles/PMC2917719/

المؤلفون: Liu YP; a Center for Human Disease Modeling , Duke University School of Medicine , Durham , North Carolina , USA., Bosch DG; b Bartiméus, Institute for the Visually Impaired , Zeist , the Netherlands.; c Department of Human Genetics , Radboud University Medical Center , Nijmegen , the Netherlands.; d Radboud Institute for Molecular Life Sciences, Radboud University Medical Center , Nijmegen , the Netherlands.; e Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Nijmegen , the Netherlands., Siemiatkowska AM; c Department of Human Genetics , Radboud University Medical Center , Nijmegen , the Netherlands.; d Radboud Institute for Molecular Life Sciences, Radboud University Medical Center , Nijmegen , the Netherlands., Rendtorff ND; f Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine , ICMM, University of Copenhagen , Copenhagen , Denmark.; g Department of Audiology , Bispebjerg Hospital and Rigshospitalet , Copenhagen , Denmark., Boonstra FN; b Bartiméus, Institute for the Visually Impaired , Zeist , the Netherlands.; e Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Nijmegen , the Netherlands., Möller C; h Audiological Research Centre, Faculty of Medicine and Health , Örebro University , Örebro , Sweden., Tranebjærg L; f Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine , ICMM, University of Copenhagen , Copenhagen , Denmark.; g Department of Audiology , Bispebjerg Hospital and Rigshospitalet , Copenhagen , Denmark., Katsanis N; a Center for Human Disease Modeling , Duke University School of Medicine , Durham , North Carolina , USA., Cremers FP; c Department of Human Genetics , Radboud University Medical Center , Nijmegen , the Netherlands.; d Radboud Institute for Molecular Life Sciences, Radboud University Medical Center , Nijmegen , the Netherlands.; e Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center , Nijmegen , the Netherlands.

المصدر: Ophthalmic genetics [Ophthalmic Genet] 2017 Mar-Apr; Vol. 38 (2), pp. 127-132. Date of Electronic Publication: 2016 Mar 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Predisposition to Disease* , Inheritance Patterns*, Eye Proteins/*genetics , Mutation/*genetics , Retinitis Pigmentosa/*genetics, Adult ; Animals ; Comparative Genomic Hybridization ; DNA Mutational Analysis ; Disease Models, Animal ; Embryo, Nonmammalian ; Exome/genetics ; Female ; Gene Silencing ; Heterozygote ; Humans ; Pedigree ; Retinitis Pigmentosa/pathology ; Rhodopsin/genetics ; Sequence Analysis, DNA ; Zebrafish/embryology ; Zebrafish Proteins/genetics

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: Bujakowska KM; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris 75012, France Centre National de la Recherche Scientifique, UMR_7210, Paris 75012, France., Zhang Q; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA., Siemiatkowska AM; Department of Human Genetics., Liu Q; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA., Place E; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA., Falk MJ; Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Consugar M; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA., Lancelot ME; Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris 75012, France Centre National de la Recherche Scientifique, UMR_7210, Paris 75012, France., Antonio A; Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris 75012, France Centre National de la Recherche Scientifique, UMR_7210, Paris 75012, France., Lonjou C; Plateforme Post-génomique P3S, Hôpital Pitié Salpêtrière, Paris 75013, France., Carpentier W; Plateforme Post-génomique P3S, Hôpital Pitié Salpêtrière, Paris 75013, France., Mohand-Saïd S; Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris 75012, France Centre National de la Recherche Scientifique, UMR_7210, Paris 75012, France Institut National de la Santé et de la Recherche Médicale and Direction de L'Hospitalisation et de L'Organisation des Soins Centre D'Investigation Clinique 1423, Centre Hospitalier National D'Ophtalmologie des Quinze-Vingts, Paris 75012, France., den Hollander AI; Department of Human Genetics Radboud Institute for Molecular Life Sciences, and Department of Ophthalmology, Radboud University Medical Center, Nijmegen 6500 HB, The Netherlands., Cremers FP; Department of Human Genetics Radboud Institute for Molecular Life Sciences, and., Leroy BP; Department of Ophthalmology and Center for Medical Genetics, Ghent University Hospital and Ghent University, Ghent 9000, Belgium Ophthalmic Genetics and Visual Electrophysiology, Division of Ophthalmology, The Children's Hospital of Philadelphia, PA 19104, USA., Gai X; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA., Sahel JA; Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris 75012, France Centre National de la Recherche Scientifique, UMR_7210, Paris 75012, France Institut National de la Santé et de la Recherche Médicale and Direction de L'Hospitalisation et de L'Organisation des Soins Centre D'Investigation Clinique 1423, Centre Hospitalier National D'Ophtalmologie des Quinze-Vingts, Paris 75012, France Fondation Ophtalmologique Adolphe de Rothschild, Paris 75019, France Academie des Sciences, Institut de France, Paris 75006, France University College London, Institute of Ophthalmology, London EC1V 9EL, UK and., van den Born LI; The Rotterdam Eye Hospital, Rotterdam 3000 LM, The Netherlands., Collin RW; Department of Human Genetics Radboud Institute for Molecular Life Sciences, and., Zeitz C; Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris 75012, France Centre National de la Recherche Scientifique, UMR_7210, Paris 75012, France., Audo I; Institut National de la Santé et de la Recherche Médicale U968, Paris 75012, France Sorbonne Universités, UPMC Univ Paris 06, UMR_S 968, Institut de la Vision, Paris 75012, France Centre National de la Recherche Scientifique, UMR_7210, Paris 75012, France Institut National de la Santé et de la Recherche Médicale and Direction de L'Hospitalisation et de L'Organisation des Soins Centre D'Investigation Clinique 1423, Centre Hospitalier National D'Ophtalmologie des Quinze-Vingts, Paris 75012, France University College London, Institute of Ophthalmology, London EC1V 9EL, UK and., Pierce EA; Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA eric_pierce@meei.harvard.edu.

المصدر: Human molecular genetics [Hum Mol Genet] 2015 Jan 01; Vol. 24 (1), pp. 230-42. Date of Electronic Publication: 2014 Aug 28.

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

بيانات الدورية: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

مواضيع طبية MeSH: Bardet-Biedl Syndrome/*genetics , Bardet-Biedl Syndrome/*pathology , Carrier Proteins/*genetics , Retina/*pathology , Retinitis Pigmentosa/*genetics , Retinitis Pigmentosa/*pathology, Adaptor Proteins, Signal Transducing ; Adolescent ; Adult ; Animals ; Cells, Cultured ; Cytoskeletal Proteins ; Exome ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation ; Pedigree ; Rats ; Retina/metabolism ; Sequence Analysis, DNA ; Young Adult ; Zebrafish

المؤلفون: Siemiatkowska AM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Bosch DG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands3Bartimeus Institute for the Visually Impaired, Zeist, the Netherlands., Boonstra FN; Bartimeus Institute for the Visually Impaired, Zeist, the Netherlands4Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands., Riemslag FC; Bartimeus Institute for the Visually Impaired, Zeist, the Netherlands5The Rotterdam Eye Hospital, Rotterdam, the Netherlands., Ruiter M; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., de Vries BB; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands4Donders Institute for Brain, Cognition and Behavior, Rad., den Hollander AI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands6Department of Ophthalmology, Radboud University Medical., Collin RW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands., Cremers FP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands2Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.

المصدر: JAMA ophthalmology [JAMA Ophthalmol] 2014 Aug; Vol. 132 (8), pp. 1002-4.

نوع المنشور: Journal Article; 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*, Leber Congenital Amaurosis/*genetics , Nicotinamide-Nucleotide Adenylyltransferase/*genetics, Humans

المؤلفون: Siemiatkowska AM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, 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, Radboud University Medical Center, 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 Medical Center, Nijmegen, The Netherlands Department of Ophthalmology, 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.

المصدر: Cold Spring Harbor perspectives in medicine [Cold Spring Harb Perspect Med] 2014 Jun 17; Vol. 4 (8). Date of Electronic Publication: 2014 Jun 17.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 101571139 Publication Model: Electronic Cited Medium: Internet ISSN: 2157-1422 (Electronic) Linking ISSN: 21571422 NLM ISO Abbreviation: Cold Spring Harb Perspect Med Subsets: MEDLINE

مواضيع طبية MeSH: Genomics/*methods , Mutation/*genetics , Retinal Degeneration/*genetics, DNA Copy Number Variations/genetics ; Exome/genetics ; Gene Expression Profiling/methods ; Gene Frequency/genetics ; Genetic Linkage/genetics ; Genetic Techniques ; Genetic Testing/methods ; Genome-Wide Association Study/methods ; Humans

المؤلفون: Siemiatkowska AM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands., van Genderen MM; Bartiméus Institute for the Visually Impaired, Zeist, The Netherlands., Bertelsen M; Kennedy Center Eye Clinic, Glostrup Hospital, Glostrup, Denmark ; Department of Ophthalmology, Glostrup Hospital, Glostrup, Denmark ; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Zobor D; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany., Rohrschneider K; Department of Ophthalmology, University of Heidelberg, Heidelberg, Germany., van Huet RA; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Nurohmah S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Klevering BJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Kohl S; Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, Tuebingen, Germany., Faradz SM; Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia., Rosenberg T; Kennedy Center Eye Clinic, Glostrup Hospital, Glostrup, Denmark ; Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., den Hollander AI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands ; Radboud Institute for Molecular Life Sciences, 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, 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.

المصدر: Molecular vision [Mol Vis] 2014 Jun 02; Vol. 20, pp. 753-9. Date of Electronic Publication: 2014 Jun 02 (Print Publication: 2014).

نوع المنشور: 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: Genetic Association Studies* , Genetic Predisposition to Disease* , Heterozygote*, Leber Congenital Amaurosis/*enzymology , Leber Congenital Amaurosis/*genetics , Nicotinamide-Nucleotide Adenylyltransferase/*genetics, Adolescent ; Adult ; Aged ; Child ; Child, Preschool ; Female ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Young Adult

المؤلفون: van Huet RA; Department of Ophthalmology, 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, Radboud University Medical Center, Nijmegen, The Netherlands., Siemiatkowska AM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands., Klaver CC; Erasmus University Rotterdam Medical Center, Rotterdam, The Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., Simonelli F; Department of Ophthalmology, Seconda Università degli Studi di Napoli, Naples, Italy., Khan MI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan., Qamar R; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan Shifa College of Medicine, Islamabad, Pakistan., Banin E; Department of Ophthalmology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., 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., Theelen T; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., den Hollander AI; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands., Klevering BJ; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands.

المصدر: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2014 May 29; Vol. 55 (6), pp. 3939-53. Date of Electronic Publication: 2014 May 29.

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: Genes, Recessive* , Mutation*, Proteoglycans/*genetics , Retinitis Pigmentosa/*genetics, Adult ; Age of Onset ; Aged ; Color Perception Tests ; Corneal Dystrophies, Hereditary/diagnosis ; Corneal Dystrophies, Hereditary/genetics ; DNA Mutational Analysis ; Electroretinography ; Female ; Humans ; Male ; Middle Aged ; Night Blindness/diagnosis ; Night Blindness/genetics ; Ophthalmoscopy ; Pedigree ; Retinitis Pigmentosa/diagnosis ; Tomography, Optical Coherence ; Vision Disorders/diagnosis ; Vision Disorders/genetics ; Visual Acuity/physiology ; Visual Field Tests ; Visual Fields/physiology ; Young Adult

SCR Disease Name: Chorioretinal atrophy, progressive bifocal

المؤلفون: Roosing S; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Collin RW, den Hollander AI, Cremers FP, Siemiatkowska AM

المصدر: Journal of medical genetics [J Med Genet] 2014 Mar; Vol. 51 (3), pp. 143-51. Date of Electronic Publication: 2014 Jan 08.

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

بيانات الدورية: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Protein Prenylation* , Retinal Diseases*, Animals ; Humans ; Mice

المؤلفون: Siemiatkowska AM; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., van den Born LI; The Rotterdam Eye Hospital, Rotterdam, The Netherlands., van Hagen PM; Department of Immunology, Erasmus University Medical Centre, Rotterdam, The Netherlands., Stoffels M; Department of General Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Infection, Inflammation and Immunity (N4i), Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands., Neveling K; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands., Henkes A; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Kipping-Geertsema M; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Hoefsloot LH; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Hoyng CB; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, The Netherlands., Simon A; Department of General Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Infection, Inflammation and Immunity (N4i), Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands., den Hollander AI; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands; Department of Ophthalmology, Radboud University Medical Centre, Nijmegen, The Netherlands., Cremers FPM; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands., Collin RWJ; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands; Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands; Institute for Genetic and Metabolic Disease, Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address: r.collin@gen.umcn.nl.

المصدر: Ophthalmology [Ophthalmology] 2013 Dec; Vol. 120 (12), pp. 2697-2705. Date of Electronic Publication: 2013 Sep 29.

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*, Phosphotransferases (Alcohol Group Acceptor)/*genetics , Retinitis Pigmentosa/*genetics, Adult ; DNA Mutational Analysis ; Electroretinography ; Exome/genetics ; Female ; Fluorescein Angiography ; Humans ; Male ; Mevalonic Acid/urine ; Middle Aged ; Pedigree ; Retinitis Pigmentosa/diagnosis ; Retinitis Pigmentosa/urine ; Tomography, Optical Coherence ; Visual Acuity/physiology