يعرض 1 - 10 نتائج من 18 نتيجة بحث عن '"Kämpjärvi, K."', وقت الاستعلام: 1.41s تنقيح النتائج
  1. 1
    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., Mishra, K., Whelan, L., Cornelis, S., Hoyng, C., Kämpjärvi, K., Klaver, C., Liskova, P., Stohr, H., Weber, B., Banfi, S., Farrar, G., Sharon, D., Zernant, J., Allikmets, R., Dhaenens, C., Cremers, F.

    المساهمون: ABCA4-Study Group

    المصدر: Human Genetics and Genomics Advances

    وصف الملف: application/pdf

    العلاقة: http://hdl.handle.net/21.11116/0000-000D-B442-DTest; http://hdl.handle.net/21.11116/0000-000D-DEC1-FTest

    الإتاحة: https://doi.org/10.1016/j.xhgg.2023.100237Test
    http://hdl.handle.net/21.11116/0000-000D-B442-DTest
    http://hdl.handle.net/21.11116/0000-000D-DEC1-FTest

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  2. 2
    دورية أكاديمية
    Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene

    المؤلفون: Yahya, S, Smith, CEL, Poulter, JA, McKibbin, M, Arno, G, Ellingford, J, Kämpjärvi, K, Khan, MI, Cremers, FPM, Hardcastle, AJ, Castle, B, Steel, DHW, Webster, AR, The UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, Black, GC, El-Asrag, ME, Ali, M, Toomes, C, Inglehearn, CF

    وصف الملف: text

    العلاقة: https://eprints.whiterose.ac.uk/190501/3/PIIS0161642022005656.pdfTest; Yahya, S, Smith, CEL orcid.org/0000-0001-8320-5105 , Poulter, JA orcid.org/0000-0003-2048-5693 et al. (17 more authors) (2023) Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene. Ophthalmology, 130 (1). pp. 68-76. ISSN 0161-6420

    الإتاحة: https://eprints.whiterose.ac.uk/190501Test/
    https://eprints.whiterose.ac.uk/190501/3/PIIS0161642022005656.pdfTest

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  3. 3
    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., Dhaenens, Claire-Marie, Stöhr, H., Weber, B. H. F., Sharon, D., Banin, E., Karali, M., Banfi, S., Ben-Yosef, T., Glavač, D., Farrar, G. J., Ayuso, C., Liskova, P., Dudakova, L., Vajter, M., Ołdak, M., Szaflik, J. P., Matynia, A., Gorin, M. B., Kämpjärvi, K., Bauwens, M., De Baere, E., Hoyng, C. B., Li, C. H. Z., Klaver, C. C. W., Inglehearn, C. F., Fujinami, K., Rivolta, C., Allikmets, R., Zernant, J., Lee, W., Podhajcer, O. L., Fakin, A., Sajovic, J., Altalbishi, A., Valeina, S., Taurina, G., Vincent, A. L., Roberts, L., Ramesar, R., Sartor, G., Luppi, E., Downes, S. M., Van Den Born, L. I., Mclaren, T. L., De Roach, J. N., Lamey, T. M., Thompson, J. A., Chen, F. K., Tracewska, A. M., Kamakari, S., Sallum, J. M. F., Bolz, H. J., Kayserili, H., Roosing, S., Cremers, F. P. M.

    المساهمون: Université de Lille, Inserm, CHU Lille, Lille Neurosciences & Cognition (LilNCog) - U 1172

    مصطلحات موضوعية: maculopathies, macula, retinal, inherited, sequencing, penetrance

    العلاقة: Biomolecules; http://hdl.handle.net/20.500.12210/114178Test

    الإتاحة: https://doi.org/20.500.12210/114178Test
    https://hdl.handle.net/20.500.12210/114178Test

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  4. 4
    دورية أكاديمية
    Late-Onset Autosomal Dominant Macular Degeneration Caused by Deletion of the CRX Gene

    المؤلفون: Yahya, S., Smith, C. E. L., Poulter, J. A., McKibbin, M., Arno, G., Ellingford, J., Kämpjärvi, K., Khan, M. I., Cremers, F. P. M., Hardcastle, A. J., Castle, B., Steel, D. H. W., Webster, A. R., Black, G. C., El-Asrag, M. E., Ali, M., Toomes, C., Inglehearn, C. F.

    مصطلحات موضوعية: Amd, Crx, Macular disease, Retinal disease, Sult2a1, Tprx1

    العلاقة: https://linkinghub.elsevier.com/retrieve/pii/S0161-6420Test(22)00565-6; Ophthalmology. 2022 Aug 5:S0161-6420(22)00565-6. doi:10.1016/j.ophtha.2022.07.023.; https://rde.dspace-express.com/handle/11287/622604Test; Ophthalmology

    الإتاحة: https://doi.org/10.1016/j.ophtha.2022.07.023Test
    https://rde.dspace-express.com/handle/11287/622604Test

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  5. 5
    دورية أكاديمية
    Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology

    المؤلفون: Uimari, O. (Outi), Ahtikoski, A. (Anne), Kämpjärvi, K. (Kati), Butzow, R. (Ralf), Järvelä, I. Y. (Ilkka Y.), Ryynänen, M. (Markku), Aaltonen, L. A. (Lauri A.), Vahteristo, P. (Pia), Kuismin, O. (Outi)

    مصطلحات موضوعية: Bcl-2, CD34, HLRCC, fumarate hydratase, hereditary leiomyomatosis and renal cell cancer, uterine leiomyoma

    وصف الملف: application/pdf

    الإتاحة: http://urn.fi/urn:nbn:fi-fe2021110153216Test

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  6. 6
    Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene

    المؤلفون: Yahya, S, Smith, CEL, Poulter, JA, McKibbin, M, Arno, G, Ellingford, J, Kämpjärvi, K, Khan, MI, Cremers, FPM, Hardcastle, AJ, Castle, B, Steel, DHW, The UK Inherited Retinal Disease Consortium, Genomics England Research Consortium, Webster, AR, Black, GC, El-Asrag, ME, Ali, M, Toomes, C, Inglehearn, CF

    وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::e648b1ddfe054c1b1657fdd744e16b62Test


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  7. 7
    دورية أكاديمية
    Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer

    المؤلفون: Kämpjärvi, K., Mäkinen, N., Kilpivaara, O., Arola, J., Heinonen, H., Böhm, J., Abdel-Wahab, O., Lehtonen, H., Pelttari, L., Mehine, M., Schrewe, H., Nevanlinna, H., Levine, R., Hokland, P., Böhling, T., Mecklin, J., Bützow, R., Aaltonen, L., Vahteristo, P.

    المصدر: British Journal of Cancer

    وصف الملف: application/pdf

    العلاقة: http://hdl.handle.net/11858/00-001M-0000-000E-B8AE-ETest; http://hdl.handle.net/11858/00-001M-0000-000E-B8B2-2Test

    الإتاحة: http://hdl.handle.net/11858/00-001M-0000-000E-B8AE-ETest
    http://hdl.handle.net/11858/00-001M-0000-000E-B8B2-2Test

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  8. 8
    دورية أكاديمية
    Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

    المؤلفون: Antoniou, A.C. (Antonis), Spurdle, A.B. (Amanda), Sinilnikova, O. (Olga), Healey, S. (Sue), Pooley, K.A. (Karen), Schmutzler, R.K. (Rita), Versmold, B. (Beatrix), Engel, C. (Christoph), Meindl, A. (Alfons), Arnold, N. (Norbert), Hofmann, W. (Wera), Sutter, C. (Christian), Niederacher, D. (Dieter), Deissler, H. (Helmut), Caldes, T. (Trinidad), Kämpjärvi, K. (Kati), Nevanlinna, H. (Heli), Simard, J. (Jacques), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Neuhausen, S.L. (Susan), Rebbeck, R. (Timothy), Wagner, T. (Teresa), Lynch, H. (Henry), Isaacs, C. (Claudine), Weitzel, J.N. (Jeffrey), Ganz, P.A. (Patricia), Daly, M.J. (Mark), Tomlinson, G. (Gail), Olopade, O.I. (Olofunmilayo), Blum, J.L. (Joanne), Couch, F.J. (Fergus), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Radice, P. (Paolo), Szabo, C. (Csilla), Pereira, L.H.M., Greene, M.H. (Mark), Rennert, G. (Gad), Lejbkowicz, F. (Flavio), Barnett-Griness, O. (Ofra), Andrulis, I.L. (Irene), Ozcelik, H. (Hilmi), Gerdes, A-M. (Anne-Marie), Caligo, M.A. (Maria), Laitman, Y. (Yael), Kaufman, B. (Bella), Milgrom, R. (Roni), Friedman, E. (Eitan), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Osorio, A. (Ana), Llort, G. (Gemma), Milne, R.L. (Roger), Benítez, J. (Javier), Hamann, U. (Ute), Hogervorst, F.B.L. (Frans), Manders, P. (Peggy), Ligtenberg, M.J. (Marjolijn), Ouweland, A.M.W. (Ans) van den, Peock, S. (Susan), Cook, M. (Margaret), Platte, R. (Radka), Evans, D.G. (Gareth), Eeles, R. (Rosalind), Pichert, G. (Gabriella), Chu, C. (Chengbin), Eccles, D. (Diana), Davidson, R. (Rosemarie), Douglas, F. (Fiona), Godwin, A.K. (Andrew), Mazoyer, S. (Sylvie), Sobol, H. (Hagay), Bourdon, V. (Violaine), Eisinger, F. (François), Chompret, A. (Agnès), Barjhoux, L. (Laure), Capoulade, C. (Corinne), Bressac-de Paillerets, B. (Brigitte), Lenoir, G.M. (Gilbert), Gauthier-Villars, M. (Marion), Houdayer, C. (Claude), Stoppa-Lyonnet, D. (Dominique), Chenevix-Trench, G. (Georgia), Easton, D.F. (Douglas)

    المصدر: American Journal of Human Genetics vol. 82 no. 4, pp. 937-948

    العلاقة: http://repub.eur.nl/pub/28979Test; urn:hdl:1765/28979

    الإتاحة: https://doi.org/10.1016/j.ajhg.2008.02.008Test
    http://repub.eur.nl/pub/28979Test

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  9. 9
    دورية أكاديمية
    Mutations in exon 1 highlight the role of MED12 in uterine leiomyomas

    المؤلفون: Kämpjärvi, K, Park, M, Mehine, M, Kim, N, Clark, A, Bützow, R, Böhling, T, Böhm, J, Mecklin, J, Järvinen, H, Tomlinson, I, van der Spuy, Z, Sjöberg, J, Boyer, T, Vahteristo, P

    العلاقة: https://ora.ox.ac.uk/objects/uuid:f166659f-83f5-45cb-9594-c478c40709e4Test; https://doi.org/10.1002/humu.22612Test

    الإتاحة: https://doi.org/10.1002/humu.22612Test
    https://ora.ox.ac.uk/objects/uuid:f166659f-83f5-45cb-9594-c478c40709e4Test

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  10. 10
    دورية أكاديمية
    Somatic MED12 exon 1 nonsense mutation in T-cell acute lymphoblastic leukemia escapes nonsense-mediated mRNA decay and prevents protein nuclear localization

    المؤلفون: Kämpjärvi, K., Heikkinen, T., Keskitalo, S., Von Nandelstadh, P., Rantanen, V., Pitkänen, E., Lehti, K., Mustjoki, S., Varjosalo, M., Vahteristo, P.

    المصدر: European Journal of Cancer ; volume 61, page S88 ; ISSN 0959-8049

    مصطلحات موضوعية: Cancer Research, Oncology

    الإتاحة: https://doi.org/10.1016/s0959-8049Test(16)61308-4
    https://api.elsevier.com/content/article/PII:S0959804916613084?httpAccept=text/xmlTest
    https://api.elsevier.com/content/article/PII:S0959804916613084?httpAccept=text/plainTest

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