Ethical, Legal, Social Issues in Genetics (ELSI)

Organisational unit: Research programme

  1. 2016
  2. 2015
  3. Van Schendel, R., Page-Christiaens, L., Beulen, L., Bilardo, K., De Boer, M., Coumans, A., ... 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. DOI: 10.1002/pd.4616
  4. Franken, R., den Hartog, A. W., Radonic, T., Micha, D., Maugeri, A., van Dijk, F. S., ... Pals, G. (2015). Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome. Circulation-Cardiovascular Genetics, 8(2), 383-388. DOI: 10.1161/CIRCGENETICS.114.000950
  5. Verloes, A., Di Donato, N., Masliah-Planchon, J., Jongmans, M., Abdul-Raman, O. A., Albrecht, B., ... Pilz, D. T. (2015). Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. European Journal of Human Genetics, 23(3), 292-301. DOI: 10.1038/ejhg.2014.95
  6. ten Broeke, S. W., Brohet, R. M., Tops, C. M., van der Klift, H. M., Velthuizen, M. E., Bernstein, I., ... Wijnen, J. T. (2015). Lynch Syndrome Caused by Germline PMS2 Mutations: Delineating the Cancer Risk. Journal of Clinical Oncology, 33(4), 319-325. DOI: 10.1200/JCO.2014.57.8088
  7. De Krom, G., Arens, Y. H. J. M., Coonen, E., Van Ravenswaaij-Arts, C. M. A., Meijer-Hoogeveen, M., Evers, J. L. H., ... 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. DOI: 10.1093/humrep/deu314
  8. den Hartog, A. W., Franken, R., Zwinderman, A. H., Timmermans, J., Scholte, A. J., van den Berg, M. P., ... Groenink, M. (2015). The risk for type B aortic dissection in Marfan syndrome. Journal of the American College of Cardiology, 65(3), 246-254. DOI: 10.1016/j.jacc.2014.10.050
  9. Semaka, A., Kay, C., Belfroid, R. D. M., Bijlsma, E. K., Losekoot, M., van Langen, I. M., ... 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. DOI: 10.1016/j.ejmg.2014.11.005
  10. 2014
  11. Monteira Ferreira, A. M., Tuominen, I., van Dijk-Bos, K., Sanjabi, B., van der Sluis, T., van der Zee, A. G., ... Hofstra, R. M. W. (2014). High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors. Human Mutation, 35(12), 1442-1445. DOI: 10.1002/humu.22686
  12. Rump, P., de Leeuw, N., van Essen, A. J., Verschuuren - Bemelmans, C. C., Veenstra-Knol, H. E., Swinkels, M. E. M., ... van Ravenswaaij-Arts, C. M. (2014). Central 22q11.2 Deletions. American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 164A(11), 2707-2723. DOI: 10.1002/ajmg.a.36711
  13. van der Werf, C., Stiekema, L., Tan, H. L., Hofman, N., Alders, M., van der Wal, A. C., ... Wilde, A. A. M. (2014). Low rate of cardiac events in first-degree relatives of diagnosis-negative young sudden unexplained death syndrome victims during follow-up. Heart Rhythm, 11(10), 1728-1732. DOI: 10.1016/j.hrthm.2014.05.028
  14. Vermond, R. A., Crijns, H. J. G. M., Tijssen, J. G. P., Alings, A. M., Van den Berg, M. P., Hillege, H. L., ... RACE II Investigators (2014). Symptom severity is associated with cardiovascular outcome in patients with permanent atrial fibrillation in the RACE II study. Europace, 16(10), 1417-1425. DOI: 10.1093/europace/euu151
  15. Schulz, Y., Wehner, P., Opitz, L., Salinas-Riester, G., Bongers, E. M. H. F., van Ravenswaaij-Arts, C. M. 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. DOI: 10.1007/s00439-014-1444-2
  16. Arking, D. E., Pulit, S. L., Crotti, L., Van der Harst, P., Munroe, P. B., Koopmann, T. T., ... HRGEN Consortium (2014). Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization. Nature Genetics, 46(8), 826-836. DOI: 10.1038/ng.3014
  17. van Rijsingen, I. A. W., van der Zwaag, P. A., Groeneweg, J. A., Nannenberg, E. A., Jongbloed, J. D. H., Zwinderman, A. H., ... Wilde, A. A. M. (2014). Outcome in phospholamban r14del carriers: Results of a large multicentre cohort study. Circulation-Cardiovascular Genetics, 7(4), 455-465. DOI: 10.1161/CIRCGENETICS.113.000374
  18. Van Den Berg-De Ruiter, E., van Min, M., Mulder, A., Vellenga, E., Splinter, E., de Wit, E., ... Raddatz, B. (2014). A COMPREHENSIVE NEW DNA TEST FOR DETECTION OF FUSION GENES IN LEUKEMIA. Haematologica, 99, 276-276.
  19. Nibbeling, E., Verschuuren-Bemelmans, C., van de Warrenburg, B., Kremer, B., van Diemen, C., Dooijes, D., ... Verbeek, D. (2014). Identification of novel spinocerebellar ataxia disease genes using next generation sequencing approaches. Movement Disorders, 29, S58-S58.
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