Division of Clinical Genetics

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  1. Article
  2. PREPL deficiency: Delineation of the phenotype and development of a functional blood assay

    Régal, L., Mårtensson, E., Maystadt, I., Voermans, N., Lederer, D., Burlina, A., Juan Fita, M. J., Hoogeboom, A. J. M., Olsson Engman, M., Hollemans, T., Schouten, M., Meulemans, S., Tord Jonson, François, I., Gil Ortega, D., Kamsteeg, E. J. & Creemers, J. W. M., 2018 Jan 1, In : Genetics in Medicine. 20, 1, p. 109-118 10 p.

    Research output: Contribution to journalArticle

  3. Use of the BOADICEA Web Application in clinical practice: appraisals by clinicians from various countries

    Brédart, A., Kop, J. L., Antoniou, A. C., Cunningham, A. P., de Pauw, A., Tischkowitz, M., Hans Ehrencrona, Dolbeault, S., Robieux, L., Rhiem, K., Easton, D. F., Devilee, P., Stoppa-Lyonnet, D. & Schmutlzer, R., 2018, In : Familial Cancer. 17, 1, p. 31-41

    Research output: Contribution to journalArticle

  4. 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

  5. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

    Catucci, I., Osorio, A., Arver, B., Neidhardt, G., Bogliolo, M., Zanardi, F., Riboni, M., Minardi, S., Pujol, R., Azzollini, J., Peissel, B., Manoukian, S., De Vecchi, G., Casola, S., Hauke, J., Richters, L., Rhiem, K., Schmutzler, R. K., Wallander, K., Törngren, T. & 8 others, Åke Borg, Radice, P., Surrallés, J., Hahnen, E., Hans Ehrencrona, Anders Kvist, Benitez, J. & Peterlongo, P., 2018, In : Genetics in Medicine. 20, p. 452–457 6 p.

    Research output: Contribution to journalArticle

  6. Mutation, methylation, and gene expression profiles in dup(1q)-positive pediatric B-cell precursor acute lymphoblastic leukemia

    Rebeqa Gunnarsson, Dilorenzo, S., Kristina B. Lundin-Ström, Linda Olsson, Biloglav, A., Henrik Lilljebjörn, Rissler, M., Wahlberg, P., Lundmark, A., Anders Castor, Behrendtz, M., Thoas Fioretos, Kajsa Paulsson, Isaksson, A. & Bertil Johansson, 2018, In : Leukemia. 32, 10, p. 2117-2125

    Research output: Contribution to journalArticle

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