يعرض 1 - 10 نتائج من 34 نتيجة بحث عن '"Dhaenens, C.M."', وقت الاستعلام: 0.95s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes

    المؤلفون: Hitti-Malin, R.J., Panneman, D.M., Corradi, Z., Boonen, E.G.M., Astuti, G.D.N, Dhaenens, C.M., Hoyng, C.B., Klaver, C.C.W., Roosing, S., Cremers, F.P.M.

    المصدر: Biomolecules, 14, 3

    مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 12: Sensory disorders Human Genetics, Radboudumc 6: Metabolic Disorders Human Genetics, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

    العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/304614/304614.pdfTest; https://repository.ubn.ru.nl/handle/2066/304614Test

    الإتاحة: https://doi.org/10.3390/biom14030367Test
    https://repository.ubn.ru.nl//bitstream/handle/2066/304614/304614.pdfTest
    https://repository.ubn.ru.nl/handle/2066/304614Test

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  2. 2
    دورية أكاديمية
    Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.

    المؤلفون: Poncet, A.F., Grunewald, O., Vaclavik, V., Meunier, I., Drumare, I., Pelletier, V., Bocquet, B., Todorova, M.G., Le Moing, A.G., Devos, A., Schorderet, D.F., Jobic, F., Defoort-Dhellemmes, S., Dollfus, H., Smirnov, V.M., Dhaenens, C.M.

    المصدر: International journal of molecular sciences, vol. 23, no. 8, pp. 4294

    مصطلحات موضوعية: Exons/genetics, Homozygote, Humans, Membrane Transport Proteins/genetics, Mutation, Neuronal Ceroid-Lipofuscinoses/genetics, Retinal Dystrophies/genetics, MFSD8 gene, deep intronic variant, isolated macular dystrophy, neuronal ceroid lipofuscinosis, transcript analysis

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35457110; info:eu-repo/semantics/altIdentifier/eissn/1422-0067; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5DA25ACED4D13; https://serval.unil.ch/notice/serval:BIB_5DA25ACED4D1Test; urn:issn:1422-0067; https://serval.unil.ch/resource/serval:BIB_5DA25ACED4D1.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5DA25ACED4D13Test

    الإتاحة: https://doi.org/10.3390/ijms23084294Test
    https://serval.unil.ch/notice/serval:BIB_5DA25ACED4D1Test
    https://serval.unil.ch/resource/serval:BIB_5DA25ACED4D1.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5DA25ACED4D13Test

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  3. 3
    دورية أكاديمية
    Study of the diagnostic yield of gene panels in long QT syndrome in pediatrics

    المؤلفون: Daire, E., Dirani, S., Klug, D., Dhaenens, C.M., Kyndt, F., Fressart, V., Jedraszak, G.

    المصدر: Archives of Cardiovascular Diseases Supplements ; volume 14, issue 3-4, page 244 ; ISSN 1878-6480

    مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

    الإتاحة: https://doi.org/10.1016/j.acvdsp.2022.07.050Test
    https://api.elsevier.com/content/article/PII:S1878648022002257?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S1878648022002257?httpAccept=text/plainTest

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  4. 4
    دورية أكاديمية
    Targeted sequencing and in vitro splice assays shed light on ABCA4 -associated retinopathies missing heritability

    المؤلفون: Corradi, Z., Khan, M., Hitti-Malin, R.J., Mishra, Ketan, Whelan, L., Cornelis, S.S., Hoyng, C.B., Klaver, C.C.W., Dhaenens, C.M., Cremers, F.P.M.

    المصدر: HGG Advances, 4, 4

    مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

    العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/298424/298424.pdfTest; https://repository.ubn.ru.nl/handle/2066/298424Test

    الإتاحة: https://doi.org/10.1016/j.xhgg.2023.100237Test
    https://repository.ubn.ru.nl//bitstream/handle/2066/298424/298424.pdfTest
    https://repository.ubn.ru.nl/handle/2066/298424Test

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  5. 5
    دورية أكاديمية
    Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function.

    المؤلفون: Kaltak, M., Blanco-Garavito, R., Molday, L.L., Dhaenens, C.M., Souied, E.E., Platenburg, G., Swildens, J., Molday, R.S., Cremers, F.P.M.

    المصدر: Journal of Translational Medicine, 21, 1, pp. 546

    مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

    العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/296060/296060.pdfTest; https://repository.ubn.ru.nl/handle/2066/296060Test

    الإتاحة: https://doi.org/10.1186/s12967-023-04406-xTest
    https://repository.ubn.ru.nl//bitstream/handle/2066/296060/296060.pdfTest
    https://repository.ubn.ru.nl/handle/2066/296060Test

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  6. 6
    دورية أكاديمية
    Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP Framework

    المؤلفون: Cornelis, S.S., Bauwens, Miriam, Haer-Wigman, L., Bruyne, M. De, Pantrangi, Madhulatha, Baere, Elfride De, Dhaenens, C.M., Cremers, F.P.M.

    المصدر: Human Mutation, 2023

    مصطلحات موضوعية: All institutes and research themes of the Radboud University Medical Center, Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 12: Sensory disorders Human Genetics

    العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/302922/302922.pdfTest; https://repository.ubn.ru.nl/handle/2066/302922Test

    الإتاحة: https://doi.org/10.1155/2023/6815504Test
    https://repository.ubn.ru.nl//bitstream/handle/2066/302922/302922.pdfTest
    https://repository.ubn.ru.nl/handle/2066/302922Test

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  7. 7
    دورية أكاديمية
    Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides

    المؤلفون: Sangermano, R, Garanto, A., Khan, M. (Mubeen), Runhart, E.H., Bauwens, M., Bax, N.M.A. (Klaas), Born, L.I. (Ingeborgh) van den, Khan, M.I. (Muhammad), Cornelis, S.S., Verheij, J, Pott, J.W.R., Thiadens, A., Klaver, C.C.W. (Caroline), Puech, B., Meunier, I., Naessens, S., Arno, G., Fakin, A., Carss, K.J., Raymond, FL, Webster, A.R. (Andrew), Dhaenens, C.M., Stohr, H., Grassmann, F. (Felix), Weber, B.H.F. (Bernhard), Hoyng, C.B. (Carel), De Baere, E. (Elfride), Albert, S., Collin, R.W.J. (Rob), Cremers, F.P.M. (Frans)

    المصدر: Genetics in Medicine vol. 21 no. 8, pp. 1751-1760

    مصطلحات موضوعية: ABCA4, antisense oligonucleotide, deep-intronic variant, missing heritability, Stargardt disease

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/grantAgreement/EC/FP7/317472; http://repub.eur.nl/pub/118784Test; urn:hdl:1765/118784

    الإتاحة: https://doi.org/10.1038/s41436-018-0414-9Test
    http://repub.eur.nl/pub/118784Test

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  8. 8
    دورية أكاديمية
    Using single molecule Molecular Inversion Probes as a cost-effective, high-throughput sequencing approach to target all genes and loci associated with macular diseases

    المؤلفون: Hitti-Malin, R.J., Dhaenens, C.M., Panneman, D.M., Corradi, Z., Khan, M., Hollander, A.I. den, Farrar, G.J., Gilissen, C., Hoischen, A., Vorst, M. van de, Bults, F., Boonen, E.G.M., Saunders, P., Roosing, S., Cremers, F.P.M.

    المصدر: Human Mutation, 43, 12, pp. 2234-2250

    مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 4: lnfectious Diseases and Global Health RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 6: Metabolic Disorders RIMLS: Radboud Institute for Molecular Life Sciences, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

    العلاقة: https://repository.ubn.ru.nl/handle/2066/286869Test

    الإتاحة: https://doi.org/10.1002/humu.24489Test
    https://repository.ubn.ru.nl/handle/2066/286869Test

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  9. 9
    دورية أكاديمية
    ABCA4 c.859-25A>G, a Frequent Palestinian Founder Mutation Affecting the Intron 7 Branchpoint, Is Associated With Early-Onset Stargardt Disease

    المؤلفون: Corradi, Z., Salameh, M., Khan, M., Héon, E., Mishra, K., Hitti-Malin, R.J., AlSwaiti, Y., Aslanian, A., Banin, E., Brooks, B.P., Zein, W.M., Hufnagel, R.B., Roosing, S., Dhaenens, C.M., Sharon, D., Cremers, F.P.M., AlTalbishi, A.

    المصدر: Investigative Ophthalmology and Visual Science, 63, 4

    مصطلحات موضوعية: Radboudumc 12: Sensory disorders DCMN: Donders Center for Medical Neuroscience, Radboudumc 7: Neurodevelopmental disorders DCMN: Donders Center for Medical Neuroscience

    العلاقة: https://repository.ubn.ru.nl//bitstream/handle/2066/251966/251966.pdfTest; https://repository.ubn.ru.nl/handle/2066/251966Test; https://doi.org/10.1167/iovs.63.4.20Test

    الإتاحة: https://doi.org/10.1167/iovs.63.4.20Test
    https://repository.ubn.ru.nl//bitstream/handle/2066/251966/251966.pdfTest
    https://repository.ubn.ru.nl/handle/2066/251966Test

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  10. 10
    دورية أكاديمية
    High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

    المؤلفون: Manes, G., Guillaumie, T., Vos, W.L., Devos, A., Audo, I., Zeitz, C., Marquette, V., Zanlonghi, X., Defoort-Dhellemmes, S., Puech, B., Said, S.M., Sahel, J.A., Odent, S., Dollfus, H., Kaplan, J., Dufier, J.L., Le Meur, G., Weber, M., Faivre, L., Behar-Cohen, F., Béroud, C., Picot, M.C., Verdier, C., Sénéchal, A., Baudoin, C., Bocquet, B., Findlay, J.B., Meunier, I., Dhaenens, C.M., Hamel, C.P.

    المصدر: American Journal of Ophthalmology, vol. 159, no. 2, pp. 302-314

    مصطلحات موضوعية: Adolescent, Adult, Aged, Blotting, Western, DNA Mutational Analysis, Electroretinography, Female, Fluorescein Angiography, France/epidemiology, Gene Expression, Genetic Linkage, Genotype, Humans, Male, Microsatellite Repeats, Middle Aged, Molecular Biology, Mutation, Pedigree, Peripherins/genetics, Prevalence, Retinitis Pigmentosa/diagnosis, Retinitis Pigmentosa/epidemiology, Retrospective Studies, Tomography, Optical Coherence, Visual Field Tests

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25447119; info:eu-repo/semantics/altIdentifier/eissn/1879-1891; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_E9379337ECE27; https://serval.unil.ch/notice/serval:BIB_E9379337ECE2Test; urn:issn:0002-9394; https://serval.unil.ch/resource/serval:BIB_E9379337ECE2.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E9379337ECE27Test

    الإتاحة: https://doi.org/10.1016/j.ajo.2014.10.033Test
    https://serval.unil.ch/notice/serval:BIB_E9379337ECE2Test
    https://serval.unil.ch/resource/serval:BIB_E9379337ECE2.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E9379337ECE27Test

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