Výsledky vyhledávání - "L. I. van den Born"

[New treatment option for Leber hereditary optic neuropathy: early diagnosis is required]

Autor: Judith A M, van Everdingen, Martha, Tjon-Fo-Sang, L I, van den Born, Jan Willem R, Pott

Publikováno v: Nederlands tijdschrift voor geneeskunde. 165

Leber hereditary optic neuropathy (LHON) is an orphan disease which leads to painless subacute loss of central vision in both eyes. It develops mainly in young adults and is more common in males. It most often leads to lifelong blindness. Idebenone h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::3e773143b861c62fe43387a21fc38cad
https://pubmed.ncbi.nlm.nih.gov/34854587

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Mutations in AGBL5, Encoding alpha-Tubulin Deglutamylase, Are Associated With Autosomal Recessive Retinitis Pigmentosa

Autor: Sultana M.H. Faradz, Galuh D.N. Astuti, Gavin Arno, F L Raymond, K. Carss, L. I. van den Born, Hanka Venselaar, Laurence H M Pierrache, Frans P.M. Cremers, Rob W.J. Collin, A. R. Webster, Sarah Hull

Publikováno v: Investigative Ophthalmology and Visual Science, 57, 6180-6187
Investigative Ophthalmology and Visual Science, 57, 14, pp. 6180-6187

Contains fulltext : 167966.pdf (Publisher’s version ) (Open Access) Purpose: AGBL5, encoding ATP/GTP binding protein-like 5, was previously proposed as an autosomal recessive retinitis pigmentosa (arRP) candidate gene based on the identification of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba5d54dde3e750d12a0e974f83e72318
https://doi.org/10.1167/iovs.16-20148

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Method for segmentation of the layers in the outer retina

Autor: L. I. van den Born, Jelena Novosel, Laurence H M Pierrache, Koenraad A. Vermeer, Lucas J. van Vliet, Caroline C W Klaver

Publikováno v: EMBC

This paper presents a method to determine the number of visible layers in the outer retina and perform segmentation. Each layer in the outer retina is represented by a Gaussian function, and multiple models with a different number of layers are used

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28fdf3166d04a7c0cc1dee5a2bf49329
https://doi.org/10.1109/embc.2015.7319673

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A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population

Autor: J Schuil, Han G. Brunner, L. I. van den Born, F. N. Boonstra, B. Van Den Helm, F.P.M. Cremers, Hester Y. Kroes, Robert K. Koenekoop, Suzanne Yzer, M M van Genderen

Publikováno v: Journal of Medical Genetics, 40, 709-13
Journal of Medical Genetics, 40, 9, pp. 709-13

Autosomal recessive retinal dystrophies cause visual impairment in approximately 1 in 4000 individuals worldwide.1 The non-syndromic forms are highly heterogeneous and can be classified into clinical subgroups, the most frequent ones being retinitis

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63e44608b47e3935bab1e43b4a8ab204
https://doi.org/10.1136/jmg.40.9.709

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Integrated genetic and physical map of the 1q31-->q32.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenes

Autor: L. I. van den Born, S. van Soest, Andries Westerveld, John R. Heckenlively, T.M.A.M.O. de Meulemeester, E.M. Bleeker-Wagemakers, P.T.V.M. de Jong, A. A. B. Bergen, S. Vliex, M.J. van Rossem

Publikováno v: Cytogenetics and cell genetics, 84(1-2), 22-27. S. Karger AG

The gene for autosomal recessive retinitis pigmentosa (RP12) with preserved para-arteriolar retinal pigment epithelium was previously mapped close to the F13B gene in region 1q31→q32.1. A 4-Mb yeast artificial chromosome contig spanning this interv

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::146af05721f660fdf0b0026cae1ca243
https://doi.org/10.1159/000015204

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Acute zonal occult outer retinopathy and multiple sclerosis

Autor: L I van den Born, Rogier Q. Hintzen

Publikováno v: Journal of Neurology Neurosurgery and Psychiatry, 77(12), 1373-1375. BMJ Publishing Group

The case of a 30‐year‐old woman who had two episodes of photopsia along with sudden‐onset monocular visual field defects, developing into bilateral tunnel vision within 4 years, is reported. She also had episodes of a right hemiparesis and righ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86f9ed378049d637ae59fcd72117f9fb
https://doi.org/10.1136/jnnp.2006.090415

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OR11-002 - Mutations in MVK cause non-syndromic RP

Autor: Kornelia Neveling, P. M. van Hagen, Monique Stoffels, A.I. den Hollander, F. P. M. Cremers, Anna Simon, L. I. van den Born, R. W. J. Collin, Anna M. Siemiatkowska

Publikováno v: Pediatric Rheumatology Online Journal

Retinitis pigmentosa (RP) is a genetically heterogeneous retinal disease. Typically beginning with night blindness, RP is characterized by rod cell degeneration followed by cone cell death, which may ultimately lead to complete blindness. Despite ext

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aae0ad7033d088b09ff0d02b875842ea
https://doi.org/10.1186/1546-0096-11-s1-a191

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Multipoint linkage analysis and soneogeneity tests in 15 Dutch X-linked retinitis pigmentosa families

Autor: Lodewijk A. Sandkuijl, Alfred J. L. G. Pinckers, E. J. M. Schuurman, L. I. van den Born, G.J.B. van Ommen, E M Bleekers-Wagemakers, A. A. B. Bergen

Publikováno v: Ophthalmic Paediatrics and Genetics, 16, 63-70
Ophthalmic Paediatrics and Genetics, 16, pp. 63-70
Ophthalmic genetics, 16(2), 63-70. Taylor and Francis Ltd.

Linkage analysis and homogeneity tests were carried out in 15 Dutch families segregating X-linked retinitis pigmentosa (X L R P). The study included segregation data for eight polymorphic DNA markers from the short arm of the human X chromosome. The

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::664878594a8889a37c6b6fd0c6f2205b
https://hdl.handle.net/2066/20679

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