Journal of Medical Genetics, 0022-2593

Journal

More filtering options
  1. 2019
  2. Alternative splicing and ACMG-AMP-2015-based classification of PALB2 genetic variants: An ENIGMA report

    Lopez-Perolio, I., Leman, R., Behar, R., Lattimore, V., Pearson, J. F., Castéra, L., Martins, A., Vaur, D., Goardon, N., Davy, G., Garre, P., García-Barberán, V., Llovet, P., Pérez-Segura, P., Díaz-Rubio, E., Caldés, T., Hruska, K. S., Hsuan, V., Wu, S., Pesaran, T. & 14 others, Karam, R., Johan Vallon-Christersson, Ake Borg, Investigators, K., Valenzuela-Palomo, A., Velasco, E. A., Southey, M., Vreeswijk, M. P. G., Devilee, P., Anders Kvist, Spurdle, A. B., Walker, L. C., Krieger, S. & De La Hoya, M., 2019, In : Journal of Medical Genetics. 56, 7, p. 453-460

    Research output: Contribution to journalArticle

  3. Progression from islet autoimmunity to clinical type 1 diabetes is influenced by genetic factors: Results from the prospective TEDDY study

    Beyerlein, A., Bonifacio, E., Vehik, K., Hippich, M., Winkler, C., Frohnert, B. I., Steck, A. K., Hagopian, W. A., Krischer, J. P., Åke Lernmark, Rewers, M. J., She, J. X., Toppari, J., Akolkar, B., Rich, S. S., Ziegler, A. G. & TEDDY Study Group, 2019, In : Journal of Medical Genetics. 56, 9, p. 602-605

    Research output: Contribution to journalArticle

  4. 2018
  5. Efficacy of novel immunotherapy regimens in patients with metastatic melanoma with germline CDKN2A mutations

    Helgadottir, H., Ghiorzo, P., van Doorn, R., Puig, S., Levin, M., Kefford, R., Martin Lauss, Queirolo, P., Pastorino, L., Kapiteijn, E., Potrony, M., Carrera, C., Håkan Olsson, Höiom, V. & Göran Jönsson, 2018 Oct 5, In : Journal of Medical Genetics.

    Research output: Contribution to journalArticle

  6. CM-Score: A validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe

    Potjer, T. P., Helgadottir, H., Leenheer, M., Van Der Stoep, N., Gruis, N. A., Höiom, V., Håkan Olsson, Van Doorn, R., Vasen, H. F. A., Van Asperen, C. J., Dekkers, O. M. & Hes, F. J., 2018, In : Journal of Medical Genetics. 55, 10, p. 661-668

    Research output: Contribution to journalArticle

  7. The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium

    Moghadasi, S., Meeks, H. D., Vreeswijk, M. P. G., Janssen, L. A. M., Borg, Å., Ehrencrona, H., Paulsson-Karlsson, Y., Wappenschmidt, B., Engel, C., Gehrig, A., Arnold, N., Van Overeem Hansen, T., Thomassen, M., Jensen, U. B., Kruse, T. A., Ejlertsen, B., Gerdes, A-M., Pedersen, I. S., Caputo, S. M., Couch, F. & 20 others, Hallberg, E. J., van den Ouweland, A. M. W., Collée, J. M., Teugels, E., Adank, M. A., van der Luijt, R. B., Mensenkamp, A. R., Oosterwijk, J. C., Blok, M. J., Janin, N., Claes, K. B. M., Tucker, K., Viassolo, V., Toland, A. E., Eccles, D. E., Devilee, P., Van Asperen, C. J., Spurdle, A. B., Goldgar, D. E. & García, E. G., 2018, In : Journal of Medical Genetics. 55, 1, p. 15-20

    Research output: Contribution to journalArticle

  8. 2017
  9. Common cancers share familial susceptibility: Implications for cancer genetics and counselling

    Yu, H., Frank, C., Jan Sundquist, Hemminki, A. & Kari Hemminki, 2017, In : Journal of Medical Genetics. 54, p. 248-253

    Research output: Contribution to journalArticle

  10. 2014
  11. Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum

    Thorwarth, A., Schnittert-Huebener, S., Schrumpf, P., Mueller, I., Jyrch, S., Dame, C., Biebermann, H., Kleinau, G., Katchanov, J., Schuelke, M., Ebert, G., Steininger, A., Boennemann, C., Brockmann, K., Christen, H-J., Crock, P., deZegher, F., Griese, M., Hewitt, J., Ivarsson, S. & 9 others, Huebner, C., Kapelari, K., Plecko, B., Rating, D., Stoeva, I., Ropers, H-H., Grueters, A., Ullmann, R. & Krude, H., 2014, In : Journal of Medical Genetics. 51, 6, p. 375-387

    Research output: Contribution to journalArticle

  12. High risk of tobacco-related cancers in CDKN2A mutation-positive melanoma families.

    Helgadottir, H., Höiom, V., Göran B Jönsson, Tuominen, R., Christian Ingvar, Åke Borg, Håkan Olsson & Hansson, J., 2014, In : Journal of Medical Genetics. 51, 8, p. 545-552

    Research output: Contribution to journalArticle

  13. 2013
  14. Risk of thyroid cancer in first-degree relatives of patients with non-medullary thyroid cancer by histology type and age at diagnosis: a joint study from five Nordic countries

    Fallah, M., Pukkala, E., Tryggvadottir, L., Olsen, J. H., Tretli, S., Kristina Sundquist & Kari Hemminki, 2013, In : Journal of Medical Genetics. 50, 6, p. 373-382

    Research output: Contribution to journalArticle

  15. 2012
  16. A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation

    Dalgaard, M. D., Weinhold, N., Edsgard, D., Silver, J. D., Pers, T. H., Nielsen, J. E., Jorgensen, N., Juul, A., Gerds, T. A., Giwercman, A., Giwercman, Y., Cohn-Cedermark, G., Virtanen, H. E., Toppari, J., Daugaard, G., Jensen, T. S., Brunak, S., Rajpert-De Meyts, E., Skakkebk, N. E., Leffers, H. & 1 others, Gupta, R., 2012, In : Journal of Medical Genetics. 49, 1, p. 58-65

    Research output: Contribution to journalArticle

Previous 1 2 3 Next