Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

Autor: Qi Zhang, Bart P. Leroy, Mark Consugar, Christina Zeitz, Emily Place, Eric A. Pierce, Marni J. Falk, Marie-Elise Lancelot, Christine Lonjou, L. Ingeborgh van den Born, Xiaowu Gai, José-Alain Sahel, Anneke I. den Hollander, Saddek Mohand-Said, Frans P.M. Cremers, Isabelle Audo, Rob W.J. Collin, Wassila Carpentier, Kinga M. Bujakowska, Qin Liu, Aline Antonio, Anna M. Siemiatkowska

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, Oxford University Press (OUP), 2015, 24 (1), pp.230-242. ⟨10.1093/hmg/ddu441⟩
Human Molecular Genetics, 24, 1, pp. 230-42
Human Molecular Genetics, 2015, 24 (1), pp.230-242. ⟨10.1093/hmg/ddu441⟩
Human Molecular Genetics, 24, 230-42

Item does not contain fulltext Primary cilia are sensory organelles present on most mammalian cells. The assembly and maintenance of primary cilia are facilitated by intraflagellar transport (IFT), a bidirectional protein trafficking along the cilium

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::723ee8f9a404fdb5b0d5fab9e46ccdf9
https://doi.org/10.1093/hmg/ddu441

Putative digenic inheritance of heterozygous RP1L1 and C2orf71 null mutations in syndromic retinal dystrophy

Autor: Nicholas Katsanis, Nanna Dahl Rendtorff, Yangfan P. Liu, Daniëlle G.M. Bosch, Frans P.M. Cremers, Claes Möller, Anna M. Siemiatkowska, Lisbeth Tranebjærg, F.N. Boonstra

Publikováno v: Ophthalmic Genetics, 38, 2, pp. 127-132
Ophthalmic Genetics, 38, 127-132

Contains fulltext : 174798.pdf (Publisher’s version ) (Open Access) BACKGROUND: Retinitis pigmentosa (RP) is the most common cause of inherited retinal degeneration and can occur in non-syndromic and syndromic forms. Syndromic RP is accompanied by

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1dcafecba5ba26c8dea3d7d34d198557
https://hdl.handle.net/2066/174798

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

Genomic approaches for the discovery of genes mutated in inherited retinal degeneration

Autor: Rob W.J. Collin, Frans P.M. Cremers, Anneke I. den Hollander, Anna M. Siemiatkowska

Publikováno v: Cold Spring Harbor Perspectives in Medicine, 4, 8, pp. a017137
Cold Spring Harbor Perspectives in Medicine, 4, a017137

Item does not contain fulltext In view of their high degree of genetic heterogeneity, inherited retinal diseases (IRDs) pose a significant challenge for identifying novel genetic causes. Thus far, more than 200 genes have been found to be mutated in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9585267b0e1ffbf62c8463884483c4f
https://hdl.handle.net/2066/138104

IMPG2-Associated Retinitis Pigmentosa Displays Relatively Early Macular Involvement

Autor: B. Jeroen Klevering, Eyal Banin, Anna M. Siemiatkowska, Anneke I. den Hollander, Muhammad Imran Khan, Carel B. Hoyng, Raheel Qamar, Frans P.M. Cremers, Rob W.J. Collin, Caroline C W Klaver, Francesca Simonelli, Thomas Theelen, Ramon A. C. van Huet, L. Ingeborgh van den Born

Publikováno v: Investigative Ophthalmology and Visual Science, 55, 6, pp. 3939-53
Investigative Ophthalmology & Visual Science, 55(6), 3939-3953. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology and Visual Science, 55, 3939-53

Contains fulltext : 138202.pdf (Publisher’s version ) (Open Access) PURPOSE: To provide the first detailed clinical description in patients with RP caused by recessive mutations in IMPG2. METHODS: This international collaborative study includes 17

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b3c828b9a68fd19a29b7f3f1abc65b01
https://hdl.handle.net/2066/138202