Zobrazeno 1 - 10 of 15 pro vyhledávání: '"Karin W. Littink"'
1
Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome
Autor: Frans P.M. Cremers, Frans C. C. Riemslag, Herman E Talsma, Rob W.J. Collin, Patricia T Y Stappers, Maria M. van Genderen, Karin W. Littink, L. Ingeborgh van den Born
Publikováno v: Genes
Genes, 9, 2, pp.
Genes, Vol 9, Iss 2, p 68 (2018)
Genes, 9,
Genes; Volume 9; Issue 2; Pages: 68
Enhanced S-cone syndrome (ESCS) is mainly associated with mutations in the NR2E3 gene. However, rare mutations in the NRL gene have been reported in patients with ESCS. We report on an ESCS phenotype in additional patients with autosomal recessive NR
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::747aade0bd9a702aa9743f664cf37657
https://pubmed.ncbi.nlm.nih.gov/29518905
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2
A homogenous frameshift mutation in LRAT causes retinitis punctata albescens
Autor: Karin W. Littink, Frans C. C. Riemslag, Linda Visser, Mary J. van Schooneveld, Anneke I. den Hollander, Maria M. van Genderen, L. Ingeborgh van den Born, Jan E.E. Keunen, Bjorn Bakker, Marijke N. Zonneveld, Frans P.M. Cremers
Publikováno v: Ophthalmology, 119, 1899-1906. Elsevier B.V.
Ophthalmology, 119(9), 1899-1906. Elsevier Inc.
Ophthalmology, 119, 9, pp. 1899-906
Ophthalmology, 119, 1899-906
Purpose: To determine the genetic defect and to describe the clinical characteristics in patients with retinitis punctata albescens (RPA) and fundus albipunctatus (FAP). Design: Case series/observational study. Participants: We included 13 patients a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70fe480acf77f8efa4ee21f6970f0dd2
https://doi.org/10.1016/j.ophtha.2012.02.037
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3
High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population
Autor: Rob W.J. Collin, B. Jeroen Klevering, Mary J. van Schooneveld, Jayne Y. Hehir-Kwa, L. Ingeborgh van den Born, Marta de Castro-Miro, Codrut C. Paun, Maleeha Azam, Frans P.M. Cremers, Anna M. Siemiatkowska, Jan Tjeerd H N de Faber, Carel B. Hoyng, Volkan Yazar, Anneke I. den Hollander, Karin W. Littink, John R. Heckenlively, Kentar Arimadyo, Hester Y. Kroes, Tim M. Strom, Marijke N. Zonneveld
Publikováno v: Investigative ophthalmology & visual science, 52(5), 2227-2239. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology & Visual Science, 52, 2227-2239. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 52, 5, pp. 2227-39
Investigative Ophthalmology and Visual Science, 52, 2227-39
Contains fulltext : 96984.pdf (Publisher’s version ) (Closed access) PURPOSE: To determine the genetic defects underlying autosomal recessive retinitis pigmentosa (arRP) in the Dutch population and in a subset of patients originating from other cou
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::247e54f09614bfc92f1c904b540f964d
https://doi.org/10.1167/iovs.10-6185
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4
Mutations in C2ORF71 Cause Autosomal-Recessive Retinitis Pigmentosa
Autor: Anan H Abbasi, Rob W.J. Collin, Christine Safieh, Frans P.M. Cremers, Stavit A. Shalev, B. Jeroen Klevering, Leah Rizel, Karin W. Littink, Tamar Ben-Yosef, Anneke I. den Hollander, Hanna J. Garzozi
Publikováno v: American Journal of Human Genetics, 86, 783-8
American Journal of Human Genetics, 86, 5, pp. 783-8
Contains fulltext : 89391.pdf (Publisher’s version ) (Closed access) With a worldwide prevalence of 1 in 4,000, retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration. More than 30 genes and loci have been implicated i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6385674e153daa7e499a15e220e04c1e
https://doi.org/10.1016/j.ajhg.2010.03.016
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5
Correction: Littink, K. W.; et al. Autosomal Recessive NRL Mutations in Patients with Enhanced S-Cone Syndrome. Genes 2018, 9, 68
Autor: Patricia T Y Stappers, Frans P.M. Cremers, Frans C. C. Riemslag, Rob W.J. Collin, Maria M. van Genderen, Herman E Talsma, L. Ingeborgh van den Born, Karin W. Littink
Publikováno v: Genes, Vol 9, Iss 3, p 145 (2018)
Genes
Enhanced S-cone syndrome (ESCS) is mainly associated with mutations in the NR2E3 gene. However, rare mutations in the NRL gene have been reported in patients with ESCS. We report on an ESCS phenotype in additional patients with autosomal recessive NR
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f4a29ec7d5f7c0b8c566bd081e7a0401
https://doi.org/10.3390/genes9030145
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6
Novel null mutations in the EYS gene are a frequent cause of autosomal recessive retinitis pigmentosa in the Israeli population
Autor: Itay Chowers, Rob W.J. Collin, Dror Sharon, Marijke N. Zonneveld, L. Ingeborgh van den Born, Frans P.M. Cremers, Tamar Ben-Yosef, Karin W. Littink, Dikla Bandah-Rozenfeld, Saul Merin, Eyal Banin, Tim M. Strom, Anneke I. den Hollander
Publikováno v: Investigative Ophthalmology and Visual Science, 51, 4387-94
Investigative Ophthalmology and Visual Science, 51, 9, pp. 4387-94
Contains fulltext : 87206_pre.pdf (Author’s version preprint ) (Open Access) Contains fulltext : 87206_pub.pdf (Publisher’s version ) (Closed access) PURPOSE: To characterize the role of EYS, a recently identified retinal disease gene, in familie
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c99d4f0d7cc90cd726985c4c970d092
https://hdl.handle.net/2066/87206
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7
A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder
Autor: Carel B. Hoyng, Arjan P.M. de Brouwer, Anneke I. den Hollander, Maria M. van Genderen, Klaus Rohrschneider, Frans C. C. Riemslag, Alberta A H J Thiadens, Frans P.M. Cremers, Karin W. Littink, Susanne Roosing, Rob W.J. Collin, L. Ingeborgh van den Born, Hanka Venselaar
Publikováno v: Investigative Ophthalmology and Visual Science, 50, 2344-50
Investigative Ophthalmology and Visual Science, 50, 5, pp. 2344-50
Investigative Ophthalmology & Visual Science, 50(5), 2344-2350. Association for Research in Vision and Ophthalmology Inc.
Contains fulltext : 81053.pdf (Publisher’s version ) (Closed access) PURPOSE: The purpose of this study was to identify the causative gene defect in two siblings with an uncharacterized cone-rod dysfunction and to describe the clinical characterist
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c0ec104cd34ab3c599cb751203374e6
https://hdl.handle.net/2066/81053
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8
Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa
Autor: Carel B. Hoyng, Rob W.J. Collin, Karin W. Littink, Ellen A.W. Blokland, Tim M. Strom, Frans P.M. Cremers, Anneke I. den Hollander, L. Ingeborgh van den Born, Robert K. Koenekoop, B. Jeroen Klevering, Marijke N. Zonneveld
Publikováno v: American Journal of Human Genetics, 83, 594-603
American Journal of Human Genetics, 83, 5, pp. 594-603
Contains fulltext : 69893.pdf (Publisher’s version ) (Closed access) In patients with autosomal-recessive retinitis pigmentosa (arRP), homozygosity mapping was performed for detection of regions harboring genes that might be causative for RP. In on
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8bc55c3936a7c41dfbe2c26305040090
https://doi.org/10.1016/j.ajhg.2008.10.014
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10
The Power of Homozygosity Mapping: Discovery of New Genetic Defects in Patients with Retinal Dystrophy
Autor: Anneke I. den Hollander, Frans P.M. Cremers, Rob W.J. Collin, Karin W. Littink
Publikováno v: Retinal Degenerative Diseases ISBN: 9781461406303
Retinal dystrophies (RD) represent a group of inherited ophthalmic diseases, which are characterized by dysfunction or progressive loss of photoreceptor cells, often accompanied by fundus abnormalities. To date, approximately 115 genes are known to b
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::de0ee1f9b2d9a40558c1ed8f0e28282e
https://doi.org/10.1007/978-1-4614-0631-0_45
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