Zobrazeno 1 - 10 of 12 pro vyhledávání: '"Sanne K. Verbakel"'
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Akademický článek
The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy
Autor: Sanne K. Verbakel, Zeinab Fadaie, B. Jeroen Klevering, Maria M. van Genderen, Ilse Feenstra, Frans P. M. Cremers, Carel B. Hoyng, Susanne Roosing
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Abstract Background Early‐onset photoreceptor dystrophies are a major cause of irreversible visual impairment in children and young adults. This clinically heterogeneous group of disorders can be caused by mutations in many genes. Nevertheless, to
Externí odkaz: https://doaj.org/article/34075a42878c44d5aedb17c99896ca5d
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2
Akademický článek
Analysis of Risk Alleles and Complement Activation Levels in Familial and Non-Familial Age-Related Macular Degeneration.
Autor: Nicole T M Saksens, Yara T E Lechanteur, Sanne K Verbakel, Joannes M M Groenewoud, Mohamed R Daha, Tina Schick, Sascha Fauser, Camiel J F Boon, Carel B Hoyng, Anneke I den Hollander
Publikováno v: PLoS ONE, Vol 11, Iss 6, p e0144367 (2016)
AIMS:Age-related macular degeneration (AMD) is a multifactorial disease, in which complement-mediated inflammation plays a pivotal role. A positive family history is an important risk factor for developing AMD. Certain lifestyle factors are shown to
Externí odkaz: https://doaj.org/article/681377ea3c0344ab94094b180f2130fb
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3
Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
Autor: Guylène Le Meur, Susanne Roosing, Panagiotis I. Sergouniotis, Marta Corton, Sandro Banfi, Graeme C.M. Black, Ivan Conte, Hélène Naacke, Carmen Ayuso, Christian Hamel, Almudena Avila-Fernandez, Agnès Muller, Guillaume Olivier, Daniela Intartaglia, Claire-Marie Dhaenens, Gaël Manes, Sanne K Verbakel, Jeroen Klevering, Isabelle Meunier, Béatrice Bocquet, Carel B. Hoyng, Agathe Roubertie, Audrey Sénéchal, Xavier Zanlonghi
Publikováno v: Journal of Medical Genetics
Journal of Medical Genetics, 2021, 58 (8), pp.570-578. ⟨10.1136/jmedgenet-2020-107150⟩
Journal of Medical Genetics, 58, 570-578
Journal of Medical Genetics, 58, 8, pp. 570-578
BackgroundInherited retinal disorders are a clinically and genetically heterogeneous group of conditions and a major cause of visual impairment. Common disease subtypes include vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). Despit
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8c418790cf0e92ff05817a63ae7d81a9
https://hal.science/hal-03652615
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4
Allogeneic and autologous serum eye drops: a pilot double-blind randomized crossover trial
Autor: Pieter F. van der Meer, Rogier M Thurlings, Áine Honohan, Catharina A. Eggink, Sanne K Verbakel, Dirk de Korte, Jos Lorinser, Joannes F M Jacobs
Publikováno v: Acta Ophthalmologica (2008), 99, 8, pp. 837-842
Acta Ophthalmologica (2008), 99, 837-842
Contains fulltext : 243908.pdf (Publisher’s version ) (Open Access) PURPOSE: Serum eye drops (SEDs) are used to treat a variety of ocular surface defects. Serum eye drops (SEDs) are normally produced from the patient's blood. However, not all patie
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6194fad97f527e3e758f90d16f84f70a
https://pubmed.ncbi.nlm.nih.gov/33590715
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5
Pathogenic variants in
Autor: Guillaume, Olivier, Marta, Corton, Daniela, Intartaglia, Sanne K, Verbakel, Panagiotis I, Sergouniotis, Guylène, Le Meur, Claire-Marie, Dhaenens, Hélène, Naacke, Almudena, Avila-Fernández, Carel B, Hoyng, Jeroen, Klevering, Béatrice, Bocquet, Agathe, Roubertie, Audrey, Sénéchal, Sandro, Banfi, Agnès, Muller, Christian L, Hamel, Graeme C, Black, Ivan, Conte, Susanne, Roosing, Xavier, Zanlonghi, Carmen, Ayuso, Isabelle, Meunier, Gaël, Manes
Publikováno v: Journal of medical genetics. 58(8)
Inherited retinal disorders are a clinically and genetically heterogeneous group of conditions and a major cause of visual impairment. Common disease subtypes include vitelliform macular dystrophy (VMD) and retinitis pigmentosa (RP). Despite the iden
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::73025084a8fb24e90601192c13098ddc
https://pubmed.ncbi.nlm.nih.gov/32817297
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6
Non-syndromic retinitis pigmentosa
Autor: Carel B. Hoyng, Ronald Roepman, B. Jeroen Klevering, Caroline C W Klaver, Anneke I. den Hollander, Ramon A. C. van Huet, Sanne K Verbakel, Rob W.J. Collin, Camiel J. F. Boon
Publikováno v: Progress in Retinal and Eye Research
Progress in Retinal and Eye Research, 66, 157-186. Elsevier Ltd.
Progress in Retinal and Eye Research, 66, 157-186
Progress in Retinal and Eye Research, 66, pp. 157-186
Contains fulltext : 196646.pdf (Publisher’s version ) (Open Access) Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading cause of vi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a31e67f4ae3c930172ecdb5fdd6270b7
https://doi.org/10.1016/j.preteyeres.2018.03.005
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7
The identification of a RNA splice variant in TULP1 in two siblings with early‐onset photoreceptor dystrophy
Autor: B. Jeroen Klevering, Zeinab Fadaie, Susanne Roosing, Maria M. van Genderen, Ilse Feenstra, Carel B. Hoyng, Frans P.M. Cremers, Sanne K Verbakel
Publikováno v: Molecular Genetics & Genomic Medicine, Vol 7, Iss 6, Pp n/a-n/a (2019)
Molecular Genetics and Genomic Medicine, 7(6). John Wiley and Sons Inc.
Molecular Genetics & Genomic Medicine, 7, 6, pp. e660
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, 7, e660
Contains fulltext : 205532.pdf (Publisher’s version ) (Open Access) BACKGROUND: Early-onset photoreceptor dystrophies are a major cause of irreversible visual impairment in children and young adults. This clinically heterogeneous group of disorders
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b7c54930f00d475cebebf127a371566
https://doaj.org/article/34075a42878c44d5aedb17c99896ca5d
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8
Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum
Autor: B. Jeroen Klevering, Carlo Rivolta, Yuko Wada, Anneke I. den Hollander, Yasuhiro Ikeda, Koh Hei Sonoda, Nieneke L. Wesseling, Konstantinos Nikopoulos, Toru Nakazawa, Caroline C W Klaver, Eveline Kersten, Arthur A.B. Bergen, Maartje J. Geerlings, Astrid S Plomp, Carel B. Hoyng, Koji M. Nishiguchi, Ramon A. C. van Huet, Sanne K Verbakel, Camiel J. F. Boon
Publikováno v: Investigative Ophthalmology and Visual Science, 60, 4, pp. 1192-1203
Investigative Ophthalmology and Visual Science, 60(4), 1192-1203
Investigative Ophthalmology & Visual Science, 60(4), 1192-1203
Investigative ophthalmology & visual science, 60(4), 1192-1203. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 60, 1192-1203
Investigative Ophthalmology & Visual Science, 60(4), 1192-1203. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 60(4), 1192-1203. Association for Research in Vision and Ophthalmology Inc.
Verbakel, S K, van Huet, R A C, den Hollander, A I, Geerlings, M J, Kersten, E, Klevering, B J, Klaver, C C W, Plomp, A S, Wesseling, N L, Bergen, A A B, Nikopoulos, K, Rivolta, C, Ikeda, Y, Sonoda, K-H, Wada, Y, Boon, C J F, Nakazawa, T, Hoyng, C B & Nishiguchi, K M 2019, ' Macular dystrophy and cone-rod dystrophy caused by mutations in the RP1 gene: Extending the RP1 disease spectrum ', Investigative Ophthalmology and Visual Science, vol. 60, no. 4, pp. 1192-1203 . https://doi.org/10.1167/iovs.18-26084
Investigative Ophthalmology & Visual Science, vol. 60, no. 4, pp. 1192-1203
Investigative Ophthalmology & Visual Science
Contains fulltext : 203178.pdf (Publisher’s version ) (Open Access) Purpose: To describe the clinical and genetic spectrum of RP1-associated retinal dystrophies. Methods: In this multicenter case series, we included 22 patients with RP1-associated
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::257ff28d38d033ca07e20104b01db4b9
https://hdl.handle.net/2066/203178
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9
Homozygous variants in
Autor: Suzanne E, de Bruijn, Sanne K, Verbakel, Erik, de Vrieze, Hannie, Kremer, Frans P M, Cremers, Carel B, Hoyng, L Ingeborgh, van den Born, Susanne, Roosing
Publikováno v: Journal of medical genetics. 55(10)
Retinitis pigmentosa (RP) shows substantial genetic heterogeneity. It has been estimated that in approximately 60%-80% of RP cases, the genetic diagnosis can be found using whole exome sequencing (WES). In this study, the purpose was to identify caus
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::1d329a2e165afe78fd0a0a73a4c584a4
https://pubmed.ncbi.nlm.nih.gov/30120214
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10
Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa
Autor: Sanne K Verbakel, Suzanne E. de Bruijn, Frans P.M. Cremers, L. Ingeborgh van den Born, Erik de Vrieze, Hannie Kremer, Carel B. Hoyng, Susanne Roosing
Publikováno v: Journal of Medical Genetics, 55, 10, pp. 705-712
Journal of Medical Genetics, 55, 705-712
BackgroundRetinitis pigmentosa (RP) shows substantial genetic heterogeneity. It has been estimated that in approximately 60%–80% of RP cases, the genetic diagnosis can be found using whole exome sequencing (WES). In this study, the purpose was to i
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3d1916afc41232a59e1c306a3c231c7
https://hdl.handle.net/2066/196395
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