Výsledky vyhledávání - "Ellen A, Blokland"

Late-Onset Stargardt Disease Due to Mild, Deep-Intronic ABCA4 Alleles

Autor: Jan-Willem R. Pott, Galuh D.N. Astuti, Esmee H. Runhart, Christian Gilissen, Silvia Albert, Carel B. Hoyng, Stéphanie S. Cornelis, Dyon Valkenburg, Joke B. G. M. Verheij, Riccardo Sangermano, Ellen A.W. Blokland, Mubeen Khan, Frans P.M. Cremers, L. Ingeborgh van den Born, Nathalie M. Bax

Publikováno v: Investigative Ophthalmology and Visual Science, 60, 4249-4256
Investigative Ophthalmology and Visual Science, 60, 13, pp. 4249-4256
Investigative ophthalmology & visual science, 60(13), 4249-4256. ASSOC RESEARCH VISION OPHTHALMOLOGY INC

PURPOSE. To investigate the role of two deep-intronic ABCA4 variants, that showed a mild splice defect in vitro and can occur on the same allele as the low penetrant c.5603A>T, in Stargardt disease (STGD1).METHODS. Ophthalmic data were assessed of 18

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc3ee68399eb4e303c1d2ab5554fcf95
https://hdl.handle.net/11370/cd3c02c0-39e7-43fb-b30a-8a48fdecccec

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The common ABCA4 variant p.Asn1868ile shows nonpenetrance and variable expression of stargardt disease when present in trans with severe variants

Autor: Klaus Rohrschneider, Saskia D. van der Velde-Visser, Ellen A.W. Blokland, Dorien Lugtenberg, L. Ingeborgh van den Born, Nathalie M. Bax, Frans P.M. Cremers, Carel B. Hoyng, Marlie H M Jacobs-Camps, Joke B. G. M. Verheij, Stéphanie S. Cornelis, Caroline C W Klaver, Riccardo Sangermano, Camiel J. F. Boon, Astrid S. Plomp, Alberta A H J Thiadens, Jan-Willem R. Pott, Esmee H. Runhart, Susanne Roosing

Publikováno v: Investigative ophthalmology & visual science, 59(8), 3220-3231. ASSOC RESEARCH VISION OPHTHALMOLOGY INC
Investigative Ophthalmology and Visual Science, 59, 3220-3231
Investigative Ophthalmology & Visual Science, 59(8), 3220-3231
Investigative Ophthalmology & Visual Science
Investigative Ophthalmology and Visual Science, 59, 8, pp. 3220-3231
Investigative ophthalmology & visual science, 59(8), 3220-3231. Association for Research in Vision and Ophthalmology Inc.
Investigative Ophthalmology & Visual Science, 59(8), 3220-3231. Association for Research in Vision and Ophthalmology Inc.

PURPOSE. To assess the occurrence and the disease expression of the common p.Asn1868Ile variant in patients with Stargardt disease (STGD1) harboring known, monoallelic causal ABCA4 variants.METHODS. The coding and noncoding regions of ABCA4 were sequ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2afa36c786f5466af0e4c23bc2aa337b
https://doi.org/10.1167/iovs.18-23881

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Missense mutations in the WD40 domain of AHI1 cause non-syndromic retinitis pigmentosa

Autor: Helger G. Yntema, Erwin van Wijk, Ellen A.W. Blokland, Frans P.M. Cremers, Lisette Hetterschijt, Erik de Vrieze, Sarah Hull, Ronald Roepman, Gavin Arno, Thanh-Minh T. Nguyen, Lonneke Haer-Wigman, Paul A. van der Zwaag, Andrew R. Webster, Stef J.F. Letteboer, Machteld M. Oud, Sylvia E. C. van Beersum, L. Ingeborgh van den Born

Publikováno v: Journal of Medical Genetics, 54, 624-632
Journal of Medical Genetics, 54, 9, pp. 624-632
JOURNAL OF MEDICAL GENETICS, 54(9), 624-632. BMJ PUBLISHING GROUP

Contains fulltext : 177221.pdf (Publisher’s version ) (Open Access) BACKGROUND: Recent findings suggesting that Abelson helper integration site 1 (AHI1) is involved in non-syndromic retinal disease have been debated, as the functional significance

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a38b581f344c7c748742a9c486834198
http://hdl.handle.net/2066/177221

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ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

Publikováno v: Proc Natl Acad Sci U S A
Proceedings of the National Academy of Sciences USA, 110, 9856-9861
Proc. Natl. Acad. Sci. U.S.A. 110, 9856-9861 (2013)
Proceedings of the National Academy of Sciences USA, 110, 24, pp. 9856-9861

Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous disorder characterized by abnormal vascularization of the peripheral retina, which can result in retinal detachment and severe visual impairment. In a large Dutch FEVR family,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::337e63aa6068ed2511f7218c332d5551

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Missense mutations in the WD40 domain of

Autor: Thanh-Minh T, Nguyen, Sarah, Hull, Ronald, Roepman, L Ingeborgh, van den Born, Machteld M, Oud, Erik, de Vrieze, Lisette, Hetterschijt, Stef J F, Letteboer, Sylvia E C, van Beersum, Ellen A, Blokland, Helger G, Yntema, Frans P M, Cremers, Paul A, van der Zwaag, Gavin, Arno, Erwin, van Wijk, Andrew R, Webster, Lonneke, Haer-Wigman

Publikováno v: Journal of Medical Genetics

Background Recent findings suggesting that Abelson helper integration site 1 (AHI1) is involved in non-syndromic retinal disease have been debated, as the functional significance of identified missense variants was uncertain. We assessed whether AHI1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::67322ecf116a482310bff64864b976cf
https://pubmed.ncbi.nlm.nih.gov/28442542

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Mutations in C8orf37, Encoding a Ciliary Protein, are Associated with Autosomal-Recessive Retinal Dystrophies with Early Macular Involvement

Publikováno v: The American Journal of Human Genetics; Vol 90
American Journal of Human Genetics, 90, 102-9
American Journal of Human Genetics, 90, 1, pp. 102-9

Item does not contain fulltext Cone-rod dystrophy (CRD) and retinitis pigmentosa (RP) are clinically and genetically overlapping heterogeneous retinal dystrophies. By using homozygosity mapping in an individual with autosomal-recessive (ar) RP from a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff0330fc97286bbd571e86c34d8f3906

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CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation

Autor: Merel A.W. Oortveld, Ellen A.W. Blokland, Frans P.M. Cremers, Erik Huys, Jyoti Agrawal, C. Erik van Nouhuys, Dominique Smeets, Eric F.P.M. Schoenmakers, Dorien Lugtenberg, Annette Schenck, Gerard Merkx, Jamie M. Kramer, Arijit Mukhopadhyay, Ad Geurts van Kessel, Hans van Bokhoven

Publikováno v: Human Genetics
Human Genetics, 128, 281-91
Human Genetics, 128, 3, pp. 281-91

Contains fulltext : 88320.pdf (Publisher’s version ) (Closed access) Microcephaly, mental retardation and congenital retinal folds along with other systemic features have previously been reported as a separate clinical entity. The sporadic nature o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e261eabaee4e65e7945e7f215b3b08c
https://doi.org/10.1007/s00439-010-0848-x

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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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NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

Publikováno v: American Journal of Human Genetics, 94, 303-9
American Journal of Human Genetics, 94, 2, pp. 303-9

Item does not contain fulltext Optic nerve atrophy and hypoplasia can be primary disorders or can result from trans-synaptic degeneration arising from cerebral visual impairment (CVI). Here we report six individuals with CVI and/or optic nerve abnorm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71c56bc01f0ce75c03e184be41c9a3f3
http://hdl.handle.net/2066/135975

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Stroma-Contact Prevents Loss of Hematopoietic Stem Cell Quality During Ex Vivo Expansion of CD34+ Mobilized Peripheral Blood Stem Cells

Autor: D. A. Breems, Karen E. Siebel, Angelique E. M. Mayen, Ellen A.W. Blokland, Rob E. Ploemacher, Lilian J.A. Engels

Publikováno v: Blood. 91:111-117

Stroma-supported long-term cultures (LTC) allow estimation of stem cell quality by simultaneous enumeration of hematopoietic stem cell (HSC) frequencies in a graft using the cobblestone area forming cell (CAFC) assay, and the ability of the graft to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72f7ca37003d11a657ad6bc4f5511251
https://doi.org/10.1182/blood.v91.1.111.111_111_117

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