يعرض 1 - 10 نتائج من 61 نتيجة بحث عن '"Nikopoulos, K."', وقت الاستعلام: 1.07s تنقيح النتائج
  1. 1
    دورية أكاديمية
    Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

    المؤلفون: Ascari, G, Peelman, F, Farinelli, P, Rosseel, T, Lambrechts, N, Wunderlich, KA, Wagner, M, Nikopoulos, K, Martens, P, Balikova, I, Derycke, L, Holtappels, G, Krysko, O, Van Laethem, T, De Jaegere, S, Guillemyn, B, De Rycke, R, De Bleecker, J, Creytens, D, Van Dorpe, J, Gerris, J, Bachert, C, Neuhofer, C, Walraedt, S, Bischoff, A, Pedersen, LB, Klopstock, T, Rivolta, C, Leroy, BP, De Baere, E, Coppieters, F

    المصدر: Human mutation. 41(5):998-1011

    مصطلحات موضوعية: Medicin och hälsovetenskap

    الوصول الحر: http://kipublications.ki.se/Default.aspx?queryparsed=id:142967805Test

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  2. 2
    دورية أكاديمية
    Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

    المؤلفون: Panneman, D.M., Hitti-Malin, R.J., Holtes, L.K., de Bruijn, S.E., Reurink, J., Boonen, E.G.M., Khan, M.I., Ali, M., Andreasson, S., De Baere, E., Banfi, S., Bauwens, M., Ben-Yosef, T., Bocquet, B., De Bruyne, M., de la Cerda, B., Coppieters, F., Farinelli, P., Guignard, T., Inglehearn, C.F., Karali, M., Kjellstrom, U., Koenekoop, R., de Koning, B., Leroy, B.P., McKibbin, M., Meunier, I., Nikopoulos, K., Nishiguchi, K.M., Poulter, J.A., Rivolta, C., de la Rua, E.R., Saunders, P., Simonelli, F., Tatour, Y., Testa, F., Thiadens, A.A.H.J., Toomes, C., Tracewska, A.M., Tran, H.V., Ushida, H., Vaclavik, V., Verhoeven, V.J.M., van de Vorst, M., Gilissen, C., Hoischen, A., Cremers, F.P.M., Roosing, S.

    المصدر: Panneman , D M , Hitti-Malin , R J , Holtes , L K , de Bruijn , S E , Reurink , J , Boonen , E G M , Khan , M I , Ali , M , Andreasson , S , De Baere , E , Banfi , S , Bauwens , M , Ben-Yosef , T , Bocquet , B , De Bruyne , M , de la Cerda , B , Coppieters , F , Farinelli , P , Guignard , T , Inglehearn , C F , Karali , M , Kjellstrom , ....

    مصطلحات موضوعية: inherited retinal diseases, targeted gene sequencing, cost-effective, high-throughput, smMIPs, RETINAL DYSTROPHY, MUTATIONS, VARIANTS

    العلاقة: https://cris.maastrichtuniversity.nl/en/publications/f8ce5e41-6786-4d77-9c3d-5752efcc5b90Test

    الإتاحة: https://doi.org/10.3389/fcell.2023.1112270Test
    https://cris.maastrichtuniversity.nl/en/publications/f8ce5e41-6786-4d77-9c3d-5752efcc5b90Test

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  3. 3
    دورية أكاديمية
    Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

    المؤلفون: Panneman, DM, Hitti-Malin, RJ, Holtes, LK, de Bruijn, SE, Reurink, J, Boonen, EGM, Khan, MI, Ali, M, Andréasson, S, De Baere, E, Banfi, S, Bauwens, M, Ben-Yosef, T, Bocquet, B, De Bruyne, M, de la Cerda, B, Coppieters, F, Farinelli, P, Guignard, T, Inglehearn, CF, Karali, M, Kjellström, U, Koenekoop, R, de Koning, B, Leroy, BP, McKibbin, M, Meunier, I, Nikopoulos, K, Nishiguchi, KM, Poulter, JA, Rivolta, C, Rodríguez de la Rúa, E, Saunders, P, Simonelli, F, Tatour, Y, Testa, F, Thiadens, AAHJ, Toomes, C, Tracewska, AM, Tran, HV, Ushida, H, Vaclavik, V, Verhoeven, VJM, van de Vorst, M, Gilissen, C, Hoischen, A, Cremers, FPM, Roosing, S

    وصف الملف: text

    العلاقة: https://eprints.whiterose.ac.uk/196829/1/Cost-effective%20sequence%20analysis%20of%20113%20genes%20in%201,192%20probands%20with%20retinitis%20pigmentosa%20and%20Leber%20congenital%20amaurosis.pdfTest; Panneman, DM, Hitti-Malin, RJ, Holtes, LK et al. (45 more authors) (2023) Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis. Frontiers in Cell and Developmental Biology, 11. 1112270. ISSN 2296-634X

    الإتاحة: https://eprints.whiterose.ac.uk/196829Test/
    https://eprints.whiterose.ac.uk/196829/1/Cost-effective%20sequence%20analysis%20of%20113%20genes%20in%201,192%20probands%20with%20retinitis%20pigmentosa%20and%20Leber%20congenital%20amaurosis.pdfTest

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  4. 4
    دورية أكاديمية
    Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.

    المؤلفون: Verbakel, S.K., van Huet, RAC, den Hollander, A.I., Geerlings, M.J., Kersten, E., Klevering, B.J., Klaver, CCW, Plomp, A.S., Wesseling, N.L., Bergen, AAB, Nikopoulos, K., Rivolta, C., Ikeda, Y., Sonoda, K.H., Wada, Y., Boon, CJF, Nakazawa, T., Hoyng, C.B., Nishiguchi, K.M.

    المصدر: Investigative Ophthalmology & Visual Science, vol. 60, no. 4, pp. 1192-1203

    مصطلحات موضوعية: RP1, phenotypic spectrum, macular dystrophy, cone-rod dystrophy, retinitis pigmentosa

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30913292; info:eu-repo/semantics/altIdentifier/eissn/1552-5783; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_52A583D3093E8; https://serval.unil.ch/notice/serval:BIB_52A583D3093ETest; urn:issn:0146-0404; https://serval.unil.ch/resource/serval:BIB_52A583D3093E.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_52A583D3093E8Test

    الإتاحة: https://doi.org/10.1167/iovs.18-26084Test
    https://serval.unil.ch/notice/serval:BIB_52A583D3093ETest
    https://serval.unil.ch/resource/serval:BIB_52A583D3093E.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_52A583D3093E8Test

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  5. 5
    دورية أكاديمية
    A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.

    المؤلفون: Nikopoulos, K., Cisarova, K., Quinodoz, M., Koskiniemi-Kuendig, H., Miyake, N., Farinelli, P., Rehman, A.U., Khan, M.I., Prunotto, A., Akiyama, M., Kamatani, Y., Terao, C., Miya, F., Ikeda, Y., Ueno, S., Fuse, N., Murakami, A., Wada, Y., Terasaki, H., Sonoda, K.H., Ishibashi, T., Kubo, M., Cremers, FPM, Kutalik, Z., Matsumoto, N., Nishiguchi, K.M., Nakazawa, T., Rivolta, C.

    المصدر: Nature communications, vol. 10, no. 1, pp. 2884

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31253780; info:eu-repo/semantics/altIdentifier/eissn/2041-1723; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_5CE00AD41EAE7; https://serval.unil.ch/notice/serval:BIB_5CE00AD41EAETest; urn:issn:2041-1723; https://serval.unil.ch/resource/serval:BIB_5CE00AD41EAE.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5CE00AD41EAE7Test

    الإتاحة: https://doi.org/10.1038/s41467-019-10746-4Test
    https://serval.unil.ch/notice/serval:BIB_5CE00AD41EAETest
    https://serval.unil.ch/resource/serval:BIB_5CE00AD41EAE.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_5CE00AD41EAE7Test

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  6. 6
    دورية أكاديمية
    Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

    المؤلفون: Nikopoulos, K., Farinelli, P., Giangreco, B., Tsika, C., Royer-Bertrand, B., Mbefo, M.K., Bedoni, N., Kjellström, U., El Zaoui, I., Di Gioia, S.A., Balzano, S., Cisarova, K., Messina, A., Decembrini, S., Plainis, S., Blazaki, S.V., Khan, M.I., Micheal, S., Boldt, K., Ueffing, M., Moulin, A.P., Cremers, F.P., Roepman, R., Arsenijevic, Y., Tsilimbaris, M.K., Andréasson, S., Rivolta, C.

    المصدر: American journal of human genetics, vol. 99, no. 3, pp. 770-776

    مصطلحات موضوعية: Aged, Alleles, Animals, Cadaver, Cell Cycle Proteins/genetics, Cell Cycle Proteins/metabolism, Cilia/pathology, Cohort Studies, Cone-Rod Dystrophies/complications, Cone-Rod Dystrophies/genetics, Cone-Rod Dystrophies/pathology, Cone-Rod Dystrophies/physiopathology, Exome/genetics, Eye/embryology, Eye/metabolism, Eye Proteins/metabolism, Female, Fibroblasts/pathology, Greece, Hearing Loss, Sensorineural/complications, Sensorineural/genetics, Sensorineural/pathology, Sensorineural/physiopathology, Heterozygote, Homozygote, Humans, Introns/genetics, Male, Mice

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27588451; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_4A7C86DC11B43; https://serval.unil.ch/notice/serval:BIB_4A7C86DC11B4Test; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_4A7C86DC11B4.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4A7C86DC11B43Test

    الإتاحة: https://doi.org/10.1016/j.ajhg.2016.07.009Test
    https://serval.unil.ch/notice/serval:BIB_4A7C86DC11B4Test
    https://serval.unil.ch/resource/serval:BIB_4A7C86DC11B4.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_4A7C86DC11B43Test

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  7. 7
    دورية أكاديمية
    Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

    المؤلفون: Bedoni, N., Haer-Wigman, L., Vaclavik, V., Tran, V.H., Farinelli, P., Balzano, S., Royer-Bertrand, B., El-Asrag, M.E., Bonny, O., Ikonomidis, C., Litzistorf, Y., Nikopoulos, K., Yioti, G.G., Stefaniotou, M.I., McKibbin, M., Booth, A.P., Ellingford, J.M., Black, G.C., Toomes, C., Inglehearn, C.F., Hoyng, C.B., Bax, N., Klaver, C.C., Thiadens, A.A., Murisier, F., Schorderet, D.F., Ali, M., Cremers, F.P., Andréasson, S., Munier, F.L., Rivolta, C.

    المصدر: Human molecular genetics, vol. 25, no. 20, pp. 4546-4555

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/28173158; info:eu-repo/semantics/altIdentifier/eissn/1460-2083; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_800C2C1B52857; https://serval.unil.ch/notice/serval:BIB_800C2C1B5285Test; urn:issn:0964-6906; https://serval.unil.ch/resource/serval:BIB_800C2C1B5285.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_800C2C1B52857Test

    الإتاحة: https://doi.org/10.1093/hmg/ddw282Test
    https://serval.unil.ch/notice/serval:BIB_800C2C1B5285Test
    https://serval.unil.ch/resource/serval:BIB_800C2C1B5285.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_800C2C1B52857Test

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  8. 8
    دورية أكاديمية
    Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

    المؤلفون: Coppieters, F., Ascari, G., Dannhausen, K., Nikopoulos, K., Peelman, F., Karlstetter, M., Xu, M., Brachet, C., Meunier, I., Tsilimbaris, M.K., Tsika, C., Blazaki, S.V., Vergult, S., Farinelli, P., Van Laethem, T., Bauwens, M., De Bruyne, M., Chen, R., Langmann, T., Sui, R., Meire, F., Rivolta, C., Hamel, C.P., Leroy, B.P., De Baere, E.

    المصدر: American journal of human genetics, vol. 99, no. 2, pp. 470-480

    مصطلحات موضوعية: Adolescent, Adult, Age of Onset, Alleles, Child, Consanguinity, Cullin Proteins/metabolism, Exome/genetics, Female, Founder Effect, Genes, Recessive, Guanine Nucleotide Exchange Factors/genetics, Haplotypes/genetics, Homozygote, Humans, Lymphocytes/metabolism, Male, Mutation, Missense/genetics, NF-E2-Related Factor 2/metabolism, Pedigree, Phenotype, RNA, Messenger/genetics, Retina/metabolism, Retinal Dystrophies/genetics, Syndrome, Turkey, Ubiquitination/genetics

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27486781; info:eu-repo/semantics/altIdentifier/eissn/1537-6605; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_D94870497C067; https://serval.unil.ch/notice/serval:BIB_D94870497C06Test; urn:issn:0002-9297; https://serval.unil.ch/resource/serval:BIB_D94870497C06.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D94870497C067Test

    الإتاحة: https://doi.org/10.1016/j.ajhg.2016.06.017Test
    https://serval.unil.ch/notice/serval:BIB_D94870497C06Test
    https://serval.unil.ch/resource/serval:BIB_D94870497C06.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_D94870497C067Test

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  9. 9
    دورية أكاديمية
    Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

    المؤلفون: Saqib, M.A., Nikopoulos, K., Ullah, E., Sher Khan, F., Iqbal, J., Bibi, R., Jarral, A., Sajid, S., Nishiguchi, K.M., Venturini, G., Ansar, M., Rivolta, C.

    المصدر: Scientific Reports, vol. 5, pp. 9965

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/25943428; info:eu-repo/semantics/altIdentifier/eissn/2045-2322; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_98B9377D4E4A0; https://serval.unil.ch/notice/serval:BIB_98B9377D4E4ATest; urn:issn:2045-2322; https://serval.unil.ch/resource/serval:BIB_98B9377D4E4A.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_98B9377D4E4A0Test

    الإتاحة: https://doi.org/10.1038/srep09965Test
    https://serval.unil.ch/notice/serval:BIB_98B9377D4E4ATest
    https://serval.unil.ch/resource/serval:BIB_98B9377D4E4A.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_98B9377D4E4A0Test

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  10. 10
    دورية أكاديمية
    Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

    المؤلفون: Nikopoulos, K., Avila-Fernandez, A., Corton, M., Lopez-Molina, M.I., Perez-Carro, R., Bontadelli, L., Di Gioia, S.A., Zurita, O., Garcia-Sandoval, B., Rivolta, C., Ayuso, C.

    المصدر: Scientific Reports, vol. 5, pp. 13902

    وصف الملف: application/pdf

    العلاقة: info:eu-repo/semantics/altIdentifier/pmid/26350383; info:eu-repo/semantics/altIdentifier/eissn/2045-2322; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_E5B61BAA557D3; https://serval.unil.ch/notice/serval:BIB_E5B61BAA557DTest; urn:issn:2045-2322; https://serval.unil.ch/resource/serval:BIB_E5B61BAA557D.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E5B61BAA557D3Test

    الإتاحة: https://doi.org/10.1038/srep13902Test
    https://serval.unil.ch/notice/serval:BIB_E5B61BAA557DTest
    https://serval.unil.ch/resource/serval:BIB_E5B61BAA557D.P001/REF.pdfTest
    http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_E5B61BAA557D3Test

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