نتائج البحث - "van der Velde-Visser, Saskia"

1

دورية أكاديمية

Impaired ABCA1/ABCG1-mediated lipid efflux in the mouse retinal pigment epithelium (RPE) leads to retinal degeneration

المصدر: Storti, Federica; Klee, Katrin; Todorova, Vyara; Steiner, Regula; Othman, Alaa; van der Velde-Visser, Saskia; Samardzija, Marijana; Meneau, Isabelle; Barben, Maya; Karademir, Duygu; Pauzuolyte, Valda; Boye, Sanford L; Blaser, Frank; Ullmer, Christoph; Dunaief, Joshua L; Hornemann, Thorsten; Rohrer, Lucia; den Hollander, Anneke; von Eckardstein, Arnold; Fingerle, Jürgen; Maugeais, Cyrille; Grimm, Christian (2019). Impaired ABCA1/ABCG1-mediated lipid efflux in the mouse retinal pigment epithelium (RPE) leads to retinal degeneration. eLife, 8:45100.

مصطلحات موضوعية: Ophthalmology Clinic, Institute of Clinical Chemistry, 610 Medicine & health, 540 Chemistry

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/171573/1/elife-45100.pdfTest; info:pmid/30864945; urn:issn:2050-084X

الإتاحة: https://doi.org/10.5167/uzh-17157310.7554/eLife.45100Test
https://www.zora.uzh.ch/id/eprint/171573Test/
https://www.zora.uzh.ch/id/eprint/171573/1/elife-45100.pdfTest

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النص الكامل

2

دورية أكاديمية

The Common ABCA4 Variant p.Asn1868Ile Shows Nonpenetrance and Variable Expression of Stargardt Disease When Present in trans With Severe Variants

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

المصدر: Runhart , E H , Sangermano , R , Cornelis , S S , Verheij , J B G M , Plomp , A S , Boon , C J F , Lugtenberg , D , Roosing , S , Bax , N M , Blokland , E A W , Jacobs-Camps , M H M , van der Velde-Visser , S D , Pott , J-W R , Rohrschneider , K , Thiadens , A A H J , Klaver , C C W , van den Born , L I , Hoyng , C B & Cremers ....

مصطلحات موضوعية: ABCA4 protein, nonpenetrance, modifiers, Stargardt disease, retinal dystrophy, CONE-ROD DYSTROPHY, DEEP-INTRONIC VARIANTS, RETINITIS-PIGMENTOSA, GENE ABCR, MUTATION, PROGRESSION, PHENOTYPES, REVEALS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/7a83806d-5e43-41d2-943f-71109abdfc15Test

الإتاحة: https://doi.org/10.1167/iovs.18-23881Test
https://hdl.handle.net/11370/7a83806d-5e43-41d2-943f-71109abdfc15Test
https://research.rug.nl/en/publications/7a83806d-5e43-41d2-943f-71109abdfc15Test
https://pure.rug.nl/ws/files/75678852/i1552_5783_59_8_3220.pdfTest

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3

دورية أكاديمية

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

المؤلفون: Schuurs-Hoeijmakers, Janneke H.M., Geraghty, Michael T., Kamsteeg, Erik-Jan, Ben-Salem, Salma, de Bot, Susanne T., Nijhof, Bonnie, van de Vondervoort, Ilse I.G.M., van der Graaf, Marinette, Nobau, Anna Castells, Otte-Höller, Irene, Vermeer, Sascha, Smith, Amanda C., Humphreys, Peter, Schwartzentruber, Jeremy, Ali, Bassam R., Al-Yahyaee, Saeed A., Tariq, Said, Pramathan, Thachillath, Bayoumi, Riad, Kremer, Hubertus P.H., van de Warrenburg, Bart P., van den Akker, Willem M.R., Gilissen, Christian, Veltman, Joris A., Janssen, Irene M., Vulto-van Silfhout, Anneke T., van der Velde-Visser, Saskia, Lefeber, Dirk J., Diekstra, Adinda, Erasmus, Corrie E., Willemsen, Michèl A., Vissers, Lisenka E.L.M., Lammens, Martin, van Bokhoven, Hans, Brunner, Han G., Wevers, Ron A., Schenck, Annette, Al-Gazali, Lihadh, de Vries, Bert B.A., de Brouwer, Arjan P.M.

المصدر: The American Journal of Human Genetics ; volume 91, issue 6, page 1073-1081 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2012.10.017Test
https://api.elsevier.com/content/article/PII:S0002929712005769?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929712005769?httpAccept=text/plainTest

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4

دورية أكاديمية

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

المؤلفون: Collin, Rob WJ, den Hollander, Anneke I, van der Velde-Visser, Saskia D, Bennicelli, Jeannette, Bennett, Jean, Cremers, Frans PM

المصدر: Molecular Therapy - Nucleic Acids ; volume 1, page e14 ; ISSN 2162-2531

مصطلحات موضوعية: Drug Discovery, Molecular Medicine

الإتاحة: https://doi.org/10.1038/mtna.2012.3Test
https://api.elsevier.com/content/article/PII:S2162253116300713?httpAccept=text/plainTest
https://api.elsevier.com/content/article/PII:S2162253116300713?httpAccept=text/xmlTest

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5

كتاب

Antisense Oligonucleotide-Based Splice Correction of a Deep-Intronic Mutation in CHM Underlying Choroideremia

المؤلفون: Garanto, Alejandro, van der Velde-Visser, Saskia D., Cremers, Frans P. M., Collin, Rob W. J.

المصدر: Retinal Degenerative Diseases ; Advances in Experimental Medicine and Biology ; page 83-89 ; ISSN 0065-2598 2214-8019 ; ISBN 9783319754017 9783319754024

الإتاحة: https://doi.org/10.1007/978-3-319-75402-4_11Test

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