Ethical, Legal, Social Issues in Genetics (ELSI)

University of Groningen > Faculteit Medische Wetenschappen/UMCG > Science in Healthy Ageing & healthcaRE (SHARE) > Ethical, Legal, Social Issues in Genetics (ELSI)

  1. 2015
  2. Franken, R., El Morabit, A., de Waard, V., Timmermans, J., Scholte, A. J., van den Berg, M. P., Marquering, H., Planken, N. R. N., Zwinderman, A. H., Mulder, B. J. M., & Groenink, M. (2015). Increased aortic tortuosity indicates a more severe aortic phenotype in adults with Marfan syndrome. International Journal of Cardiology, 194, 7-12. https://doi.org/10.1016/j.ijcard.2015.05.072
  3. Van Schendel, R., Page-Christiaens, L., Beulen, L., Bilardo, K., De Boer, M., Coumans, A., Faas, B., Van Langen, I., Lichtenbelt, K., Van Maarle, M., Macville, M., Oepkes, D., Pajkrt, E., & Henneman, L. (2015). Experiences of high-risk pregnant women who were offered a choice between non-invasive prenatal testing, invasive testing or no follow-up test. 18-19. https://doi.org/10.1002/pd.4616
  4. Mogensen, J., van Tintelen, J. P., Fokstuen, S., Elliott, P., van Langen, I. M., Meder, B., Richard, P., Syrris, P., Caforio, A. L. P., Adler, Y., Anastasakis, A., Gimeno, J. R., Klingel, K., Linhart, A., Imazio, M., Pinto, Y., Newbery, R., Schmidtke, J., & Charron, P. (2015). The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics. European Heart Journal, 36(22), 1367-1370. https://doi.org/10.1093/eurheartj/ehv122
  5. Bhonsale, A., Groeneweg, J. A., James, C. A., Dooijes, D., Tichnell, C., Jongbloed, J. D. H., Murray, B., Riele, A. S. J. M. T., van den Berg, M. P., Bikker, H., Atsma, D. E., de Groot, N. M., Houweling, A. C., van der Heijden, J. F., Russell, S. D., Doevendans, P. A., van Veen, T. A., Tandri, H., Wilde, A. A., ... Hauer, R. N. (2015). Impact of genotype on clinical course in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated mutation carriers. European Heart Journal, 36(14), 847-855. https://doi.org/10.1093/eurheartj/ehu509
  6. Franken, R., den Hartog, A. W., Radonic, T., Micha, D., Maugeri, A., van Dijk, F. S., Meijers-Heijboer, H. E., Timmermans, J., Scholte, A. J., van den Berg, M. P., Groenink, M., Mulder, B. J. M., Zwinderman, A. H., de Waard, V., & Pals, G. (2015). Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome. Circulation-Cardiovascular Genetics, 8(2), 383-388. https://doi.org/10.1161/CIRCGENETICS.114.000950
  7. Verloes, A., Di Donato, N., Masliah-Planchon, J., Jongmans, M., Abdul-Raman, O. A., Albrecht, B., Allanson, J., Brunner, H., Bertola, D., Chassaing, N., David, A., Devriendt, K., Eftekhari, P., Drouin-Garraud, V., Faravelli, F., Faivre, L., Giuliano, F., Almeida, L. G., Juncos, J., ... Pilz, D. T. (2015). Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics, 23(3), 292-301. https://doi.org/10.1038/ejhg.2014.95
  8. ten Broeke, S. W., Brohet, R. M., Tops, C. M., van der Klift, H. M., Velthuizen, M. E., Bernstein, I., Capella Munar, G., Garcia, E. G., Hoogerbrugge, N., Letteboer, T. G. W., Menko, F. H., Lindblom, A., Mensenkamp, A. R., Moller, P., Van Os, T. A., Rahner, N., Redeker, B. J. W., Sijmons, R. H., Spruijt, L., ... Wijnen, J. T. (2015). Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk. Journal of Clinical Oncology, 33(4), 319-325. https://doi.org/10.1200/JCO.2014.57.8088
  9. De Krom, G., Arens, Y. H. J. M., Coonen, E., Van Ravenswaaij-Arts, C. M. A., Meijer-Hoogeveen, M., Evers, J. L. H., Van Golde, R. J. T., & De Die-Smulders, C. E. M. (2015). Recurrent miscarriage in translocation carriers: no differences in clinical characteristics between couples who accept and couples who decline PGD. Human Reproduction, 30(2), 484-489. https://doi.org/10.1093/humrep/deu314
  10. den Hartog, A. W., Franken, R., Zwinderman, A. H., Timmermans, J., Scholte, A. J., van den Berg, M. P., de Waard, V., Pals, G., Mulder, B. J. M., & Groenink, M. (2015). The risk for type B aortic dissection in Marfan syndrome. Journal of the American College of Cardiology, 65(3), 246-254. https://doi.org/10.1016/j.jacc.2014.10.050
  11. Semaka, A., Kay, C., Belfroid, R. D. M., Bijlsma, E. K., Losekoot, M., van Langen, I. M., van Maarle, M. C., Oosterloo, M., Hayden, M. R., & van Belzen, M. J. (2015). A new mutation for Huntington disease following maternal transmission of an intermediate allele. European journal of medical genetics, 58(1), 28-30. https://doi.org/10.1016/j.ejmg.2014.11.005
  12. 2014
  13. Perrin, M. J., Adler, A., Green, S., Al-Zoughool, F., Doroshenko, P., Orr, N., Uppal, S., Healey, J. S., Birnie, D., Sanatani, S., Gardner, M., Champagne, J., Simpson, C., Ahmad, K., van den Berg, M. P., Chauhan, V., Backx, P. H., van Tintelen, J. P., Krahn, A. D., & Gollob, M. H. (2014). Evaluation of Genes Encoding for the Transient Outward Current (Ito) Identifies the KCND2 Gene as a Cause of J-Wave Syndrome Associated With Sudden Cardiac Death. Circulation-Cardiovascular Genetics, 7(6), 782-789. https://doi.org/10.1161/CIRCGENETICS.114.000623
  14. Monteira Ferreira, A. M., Tuominen, I., van Dijk-Bos, K., Sanjabi, B., van der Sluis, T., van der Zee, A. G., Hollema, H., Zazula, M., Sijmons, R. H., Aaltonen, L. A., Westers, H., & Hofstra, R. M. W. (2014). High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors. Human Mutation, 35(12), 1442-1445. https://doi.org/10.1002/humu.22686
  15. Monteira Ferreira, A., Tuominen, I., Sousa, S., Gerbens, F., van Dijk-Bos, K., Osinga, J., Kooi, K. A., Sanjabi, B., Esendam, C., Oliveira, C., Terpstra, P., Hardonk, M., van der Sluis, T., Zazula, M., Stachura, J., van der Zee, A. G., Hollema, H., Sijmons, R. H., Aaltonen, L. A., ... Westers, H. (2014). New Target Genes in Endometrial Tumors Show a Role for the Estrogen-Receptor Pathway in Microsatellite-Unstable Cancers. Human Mutation, 35(12), 1514-1523. https://doi.org/10.1002/humu.22700
  16. Rump, P., de Leeuw, N., van Essen, A. J., Verschuuren - Bemelmans, C. C., Veenstra-Knol, H. E., Swinkels, M. E. M., Oostdijk, W., Ruivenkamp, C., Reardon, W., de Munnik, S., Ruiter, M., Frumkin, A., Lev, D., Evers, C., Sikkema-Raddatz, B., Dijkhuizen, T., & van Ravenswaaij-Arts, C. M. (2014). Central 22q11.2 Deletions. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 164(11), 2707-2723. https://doi.org/10.1002/ajmg.a.36711
  17. van Spaendonck-Zwarts, K. Y., Posafalvi, A., van den Berg, M. P., Hilfiker-Kleiner, D., Bollen, I. A. E., Sliwa, K., Alders, M., AlMomani, R., van Langen, I. M., van der Meer, P., Sinke, R. J., van der Velden, J., Van Veldhuisen, D. J., van Tintelen, J. P., & Jongbloed, J. D. H. (2014). Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy. European Heart Journal, 35(32), 2165-2173. https://doi.org/10.1093/eurheartj/ehu050
  18. Schulz, Y., Wehner, P., Opitz, L., Salinas-Riester, G., Bongers, E. M. H. F., van Ravenswaaij-Arts, C. M. A., Wincent, J., Schoumans, J., Kohlhase, J., Borchers, A., & Pauli, S. (2014). CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. HUMAN GENETICS, 133(8), 997-1009. https://doi.org/10.1007/s00439-014-1444-2
  19. Arking, D. E., Pulit, S. L., Crotti, L., Van der Harst, P., Munroe, P. B., Koopmann, T. T., Sotoodehnia, N., Rossin, E. J., Morley, M., Wang, X., Johnson, A. D., Lundby, A., Gudbjartsson, D. F., Noseworthy, P. A., Eijgelsheim, M., Bradford, Y., Tarasov, K. V., Dorr, M., Miiller-Nurasyid, M., ... HRGEN Consortium (2014). Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nature Genetics, 46(8), 826-836. https://doi.org/10.1038/ng.3014
  20. van Rijsingen, I. A. W., van der Zwaag, P. A., Groeneweg, J. A., Nannenberg, E. A., Jongbloed, J. D. H., Zwinderman, A. H., Pinto, Y. M., Deprez, R. H. L. D., Post, J. G., Tan, H. L., de Boer, R. A., Hauer, R. N. W., Christiaans, I., van den Berg, M. P., van Tintelen, J. P., & Wilde, A. A. M. (2014). Outcome in phospholamban r14del carriers: Results of a large multicentre cohort study. Circulation-Cardiovascular Genetics, 7(4), 455-465. https://doi.org/10.1161/CIRCGENETICS.113.000374
  21. Van Den Berg-De Ruiter, E., van Min, M., Mulder, A., Vellenga, E., Splinter, E., de Wit, E., Klous, P., van der Vlies, P., Weening, D., van Diemen, C., Sijmons, R., Sinke, R., & Raddatz, B. (2014). A comprehensive new DNA test for detection of fusion genes in leukemia. Haematologica, 99, 276-276.
  22. Nibbeling, E., Verschuuren-Bemelmans, C., van de Warrenburg, B., Kremer, B., van Diemen, C., Dooijes, D., Dijkstra, M., Franke, L., Swertz, M., Sinke, R., & Verbeek, D. (2014). Identification of novel spinocerebellar ataxia disease genes using next generation sequencing approaches. Movement Disorders, 29, S58-S58.
  23. Van Tintelen, J. P., Pieper, P. G., Van Spaendonck-Zwarts, K. Y., & Van den Berg, M. P. (2014). Pregnancy, cardiomyopathies, and genetics. Cardiovascular Research, 101(4), 571-578. https://doi.org/10.1093/cvr/cvu014
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