Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Herman E Talsma"'
Autor:
Alberta A H J Thiadens, Carel B. Hoyng, Marta Fiocco, Magda A. Meester-Smoor, Maria M. van Genderen, Herman E Talsma, Camiel J. F. Boon, L. Ingeborgh van den Born, Jan Wijnholds, Jacoline B. ten Brink, Frans P.M. Cremers, Arthur A.B. Bergen, Mary J. van Schooneveld, Ralph J. Florijn, Xuan-Thanh-An Nguyen, Caroline C W Klaver, Nicoline E. Schalij-Delfos, Mays Talib
Publikováno v:
American Journal of Ophthalmology, 234, 37-48. Elsevier USA
American journal of ophthalmology, 234, 37-48. Elsevier USA
American Journal of Ophthalmology, 234, 37-48. Elsevier Inc.
American journal of ophthalmology, 234, 37-48. Elsevier USA
American Journal of Ophthalmology, 234, 37-48. Elsevier Inc.
PURPOSE: To investigate the natural disease course of retinal dystrophies associated with crumbs cell polarity complex component 1 (CRB1) and identify clinical end points for future clinical trials. DESIGN: Single-center, prospective case series. MET
Autor:
Barbara C. H. Huijgen, Maria M. van Genderen, Willemijn F. E. Kuper, Herman E Talsma, Peter M. van Hasselt, Gerard C. de Wit, Jan Willem R. Pott, Mary J. van Schooneveld
Publikováno v:
Acta ophthalmologica, 99(4), 397-404. Copenhagen Scriptor
Acta ophthalmologica, 99(4), 397-404. Wiley
Acta Ophthalmologica
Acta ophthalmologica, 99(4), 397-404. Wiley
Acta Ophthalmologica
Purpose To help differentiate CLN3 (Batten) disease, a devastating childhood metabolic disorder, from the similarly presenting early‐onset Stargardt disease (STGD1). Early clinical identification of children with CLN3 disease is essential for adequ
Autor:
Peter M. van Hasselt, Carlo Marcelis, Herman E Talsma, Marc R. Lilien, Hanneke A. Haijes, Willemijn F. E. Kuper, Bram C F Veldman, Janneke H M Schuurs-Hoeijmakers, Milan Phan, Ymkje M. Hettinga
Publikováno v:
American Journal of Medical Genetics. Part a
American Journal of Medical Genetics. Part A, 185, 7, pp. 2204-2210
American Journal of Medical Genetics. Part A, 185, 2204-2210
American Journal of Medical Genetics. Part A, 185, 7, pp. 2204-2210
American Journal of Medical Genetics. Part A, 185, 2204-2210
Contains fulltext : 237970.pdf (Publisher’s version ) (Open Access) The CEP83 protein is an essential part in the first steps of ciliogenesis, causing a ciliopathy if deficient. As a core component of the distal appendages of the centriole, CEP83 i
Autor:
Alberta A H J Thiadens, Nicoline E. Schalij-Delfos, Arthur A.B. Bergen, Carel B. Hoyng, Magda A. Meester-Smoor, L. Ingeborgh van den Born, Mary J. van Schooneveld, Camiel J. F. Boon, Jacoline B. ten Brink, Maria M. van Genderen, Ralph J. Florijn, Jan Wijnholds, Herman E Talsma, Frans P.M. Cremers, Mays Talib
Publikováno v:
Acta Ophthalmologica (2008), 99, e402-e414
Acta Ophthalmologica, 99, e402-e414. Wiley-Blackwell
Acta Ophthalmologica
Acta Ophthalmologica, 99(3), E402-E414. WILEY
Acta Ophthalmologica (2008), 99, 3, pp. e402-e414
Acta ophthalmologica, 99(3), e402-e414. Copenhagen Scriptor
Acta Ophthalmologica, 99(3), e402-e414. Wiley-Blackwell Publishing Ltd
Acta Ophthalmologica, 99, e402-e414. Wiley-Blackwell
Acta Ophthalmologica
Acta Ophthalmologica, 99(3), E402-E414. WILEY
Acta Ophthalmologica (2008), 99, 3, pp. e402-e414
Acta ophthalmologica, 99(3), e402-e414. Copenhagen Scriptor
Acta Ophthalmologica, 99(3), e402-e414. Wiley-Blackwell Publishing Ltd
Contains fulltext : 234995.pdf (Publisher’s version ) (Open Access) PURPOSE: To investigate the retinal structure and function in patients with CRB1-associated retinal dystrophies (RD) and to explore potential clinical endpoints. METHODS: In this p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::821e774d78c14cefa78f4744e2e23a21
https://hdl.handle.net/1887/3274152
https://hdl.handle.net/1887/3274152
Autor:
Gerard C. de Wit, Maria M. van Genderen, Charlotte C. Kruijt, Nicoline E. Schalij-Delfos, Herman E Talsma
Publikováno v:
Investigative Ophthalmology & Visual Science, 60(12), 3963-3969
Investigative ophthalmology & visual science, 60(12), 3963. Association for Research in Vision and Ophthalmology Inc.
Investigative ophthalmology & visual science, 60(12), 3963. Association for Research in Vision and Ophthalmology Inc.
Purpose: To investigate the optimal procedures for multichannel visually evoked potentials (VEPs) to detect misrouting in albinism subjects. Methods: Investigations were done in a phenotypically heterogeneous group of 180 albinism subjects and 187 co
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1297b308b82a20c1862353db652b2109
https://dspace.library.uu.nl/handle/1874/391591
https://dspace.library.uu.nl/handle/1874/391591
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
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
Autor:
Marijke N. Zonneveld-Vrieling, Herman E Talsma, Francoise J M Klessens-Godfroy, Frans C. C. Riemslag, Anneke I. den Hollander, L. Ingeborgh van den Born, Frans P.M. Cremers, Susanne Roosing
Publikováno v:
Genes, 8, 8
Genes; Volume 8; Issue 8; Pages: 208
Genes, Vol 8, Iss 8, p 208 (2017)
Genes
Genes, 8
Genes; Volume 8; Issue 8; Pages: 208
Genes, Vol 8, Iss 8, p 208 (2017)
Genes
Genes, 8
Contains fulltext : 177341.pdf (Publisher’s version ) (Open Access) PURPOSE: To identify the gene defect and to study the clinical characteristics and natural course of disease in a family originally diagnosed with oligocone trichromacy (OT), a rar
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::719dd9c680e3f09ece9a92d81da7ea5c
https://hdl.handle.net/2066/177341
https://hdl.handle.net/2066/177341
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
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