المؤلفون: Assink, JJM (Jacqueline), Tijmes, NT, Brink, JB, Oostra, RJ, Riemslag, FC, de Jong, PTVM (Paulus), Bergen, AAB

المساهمون: Epidemiology

المصدر: American Journal of Human Genetics, 61, 934-939. Cell Press

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::f7ffd2a9e68c5093d119119f7ccb66f0
https://pure.eur.nl/en/publications/345a71d1-1588-419e-9fa3-f5a6ed728b23

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عنوان ترانسليتريتد: Functionele visusklachten: tijdig onderzoek loont.

المؤلفون: van Genderen MM; Bartiméus, Diagnostiek Visuele Aandoeningen, Zeist., de Wit GC, Riemslag FC

المصدر: Nederlands tijdschrift voor geneeskunde [Ned Tijdschr Geneeskd] 2016; Vol. 160, pp. A9656.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Vereniging NTvG Country of Publication: Netherlands NLM ID: 0400770 Publication Model: Print Cited Medium: Internet ISSN: 1876-8784 (Electronic) Linking ISSN: 00282162 NLM ISO Abbreviation: Ned Tijdschr Geneeskd Subsets: MEDLINE

مواضيع طبية MeSH: Vision Disorders/*diagnosis, Early Diagnosis ; Evoked Potentials, Visual/physiology ; Eye Movements/physiology ; Humans ; Referral and Consultation ; Vision Disorders/physiopathology

المؤلفون: Boon CJ; Department of Ophthalmology, Leiden University Medical Center, Leiden, the Netherlands †The Rotterdam Eye Hospital, Rotterdam, the Netherlands ‡Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, the Netherlands §Department of Clinical and Molecular Ophthalmogenetics, Netherlands Institute for Neuroscience, Royal Netherlands Academy of Arts and Sciences, Amsterdam, the Netherlands ¶Department of Ophthalmology, Academic Medical Centre, Amsterdam, the Netherlands **Bartiméus Institute for the Visually Impaired, Zeist, the Netherlands., van den Born LI, Keunen JE, Bergen AA, Riemslag FC, Florijn RJ, van Schooneveld MJ

المصدر: Retina (Philadelphia, Pa.) [Retina] 2015 Sep; Vol. 35 (9), pp. e57-8.

نوع المنشور: Letter; Comment

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 8309919 Publication Model: Print Cited Medium: Internet ISSN: 1539-2864 (Electronic) Linking ISSN: 0275004X NLM ISO Abbreviation: Retina Subsets: MEDLINE

مواضيع طبية MeSH: Mutation*, Chloride Channels/*genetics , Eye Diseases, Hereditary/*genetics , Eye Proteins/*genetics , Retinal Diseases/*genetics, Humans

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: 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: Klooster J; Retinal Signal Processing, Netherlands Institute for Neuroscience, Amsterdam, The Netherlands., van Genderen MM, Yu M, Florijn RJ, Riemslag FC, Bergen AA, Gregg RG, Peachey NS, Kamermans M

المصدر: Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2013 Oct 23; Vol. 54 (10), pp. 6973-81. Date of Electronic Publication: 2013 Oct 23.

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

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: Eye Diseases, Hereditary/*metabolism , Genetic Diseases, X-Linked/*metabolism , Myopia/*metabolism , Night Blindness/*metabolism , Receptors, G-Protein-Coupled/*analysis , Retina/*metabolism, Adolescent ; Animals ; Autopsy ; Dendrites/metabolism ; Electroretinography ; Eye Diseases, Hereditary/physiopathology ; Female ; Genetic Diseases, X-Linked/physiopathology ; Humans ; Immunohistochemistry ; Male ; Mice ; Myopia/physiopathology ; Night Blindness/physiopathology ; Receptors, G-Protein-Coupled/genetics ; Retina/ultrastructure

SCR Disease Name: Night blindness, congenital stationary

المؤلفون: Bijveld MM; Bartiméus Institute for the Visually Impaired, Zeist, The Netherlands; MOVE Research Institute, Faculty of Human Movement Sciences, VU University, Amsterdam, The Netherlands. Electronic address: miekebijveld@gmail.com., Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM

المصدر: Ophthalmology [Ophthalmology] 2013 Oct; Vol. 120 (10), pp. 2072-81. Date of Electronic Publication: 2013 May 25.

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: Eye Diseases, Hereditary/*genetics , Eye Proteins/*genetics , Genetic Diseases, X-Linked/*genetics , Myopia/*genetics , Night Blindness/*genetics, Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; Electroretinography ; Eye Diseases, Hereditary/physiopathology ; Female ; Genetic Diseases, X-Linked/physiopathology ; Genotype ; Humans ; Infant ; Male ; Middle Aged ; Mutation ; Myopia/physiopathology ; Netherlands ; Night Blindness/physiopathology ; Phenotype ; Refractive Errors ; Sensory Thresholds/physiology ; Visual Acuity/physiology ; Young Adult

SCR Disease Name: Night blindness, congenital stationary