Division of Clinical Genetics

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  1. Reduced proliferative capacity of hematopoietic stem cells deficient in hoxb3 and hoxb4.

    Björnsson, J. M., Larsson, N., Brun, A., Mattias Magnusson, Andersson, E., Lundström, P., Jonas Larsson, Repetowska, E., Mats Ehinger, Humphries, R. K. & Stefan Karlsson, 2003, In : Molecular and Cellular Biology. 23, 11, p. 3872-3883

    Research output: Contribution to journalArticle

  2. Proliferation of primitive myeloid progenitors can be reversibly induced by HOXA10

    Björnsson, J. M., Andersson, E., Lundström, P., Larsson, N., Xu, X., Repetowska, E., Humphries, R. K. & Stefan Karlsson, 2001, In : Blood. 98, 12, p. 3301-3308

    Research output: Contribution to journalArticle

  3. Myeloid Leukemia of Down Syndrome The Results of An International Retrospective Study

    Blink, M., Eibrink, M. M. V. D. H., de Haas, V., Hasle, H., Brien, M. O., Stark, B., Tandonnet, J., Pession, A., Tousovska, K., Cheuk, D. K. L., Kudo, K., Taga, T., Rubnitz, J., Haltrich, I., Balwierz, W., Johansson, B., Zimmermann, M., Reinhardt, D., Pieters, R., Forestier, E. & 1 others, Zwaan, C. M., 2010, In : Blood. 116, 21, p. 1120-1120

    Research output: Contribution to journalPublished meeting abstract

  4. Normal karyotype is a poor prognostic factor in myeloid leukemia of Down syndrome: a retrospective, international study

    Blink, M., Zimmermann, M., von Neuhoff, C., Reinhardt, D., de Haas, V., Hasle, H., O'Brien, M. M., Stark, B., Tandonnet, J., Pession, A., Tousovska, K., Cheuk, D. K. L., Kudo, K., Taga, T., Rubnitz, J. E., Haltrich, I., Balwierz, W., Pieters, R., Forestier, E., Johansson, B. & 2 others, van den Heuvel-Eibrink, M. M. & Zwaan, C. M., 2014, In : Haematologica. 99, 2, p. 299-307

    Research output: Contribution to journalArticle

  5. Multiple independent variants at the TERT locus are associated with telomere length and risks of breast and ovarian cancer

    Bojesen, S. E., Pooley, K. A., Johnatty, S. E., Beesley, J., Michailidou, K., Tyrer, J. P., Edwards, S. L., Pickett, H. A., Shen, H. C., Smart, C. E., Hillman, K. M., Mai, P. L., Lawrenson, K., Stutz, M. D., Lu, Y., Karevan, R., Woods, N., Johnstonw, R. L., French, J. D., Chen, X. & 417 others, Weischer, M., Nielsen, S. F., Maranian, M. J., Ghoussaini, M., Ahmed, S., Baynes, C., Bolla, M. K., Wang, Q., Dennis, J., McGuffog, L., Barrowdale, D., Lee, A., Healey, S., Lush, M., Tessier, D. C., Vincent, D., Bacot, F., Vergote, I., Lambrechts, S., Despierre, E., Risch, H. A., Gonzalez-Neira, A., Rossing, M. A., Pita, G., Doherty, J. A., Alvarez, N., Larson, M. C., Fridley, B. L., Schoof, N., Chang-Claude, J., Cicek, M. S., Peto, J., Kalli, K. R., Broeks, A., Armasu, S. M., Schmidt, M. K., Braaf, L. M., Winterhoff, B., Nevanlinna, H., Konecny, G. E., Lambrechts, D., Rogmann, L., Guenel, P., Teoman, A., Milne, R. L., Garcia, J. J., Cox, A., Shridhar, V., Burwinkel, B., Marme, F., Hein, R., Sawyer, E. J., Haiman, C. A., Wang-Gohrke, S., Andrulis, I. L., Moysich, K. B., Hopper, J. L., Odunsi, K., Lindblom, A., Giles, G. G., Brenner, H., Simard, J., Lurie, G., Fasching, P. A., Carney, M. E., Radice, P., Wilkens, L. R., Swerdlow, A., Goodman, M. T., Brauch, H., Garcia-Closas, M., Hillemanns, P., Winqvist, R., Durst, M., Devilee, P., Runnebaum, I., Jakubowska, A., Lubinski, J., Mannermaa, A., Butzow, R., Bogdanova, N. V., Doerk, T., Pelttari, L. M., Zheng, W., Leminen, A., Anton-Culver, H., Bunker, C. H., Kristensen, V., Ness, R. B., Muir, K., Edwards, R., Meindl, A., Heitz, F., Matsuo, K., du Bois, A., Wu, A. H., Harter, P., Teo, S-H., Schwaab, I., Shu, X-O., Blot, W., Hosono, S., Kang, D., Nakanishi, T., Hartman, M., Yatabe, Y., Hamann, U., Karlan, B. Y., Sangrajrang, S., Kjaer, S. K., Gaborieau, V., Jensen, A., Eccles, D., Hogdall, E., Shen, C-Y., Brown, J., Woo, Y. L., Shah, M., Azmi, M. A. N., Luben, R., Omar, S. Z., Czene, K., Vierkant, R. A., Nordestgaard, B. G., Flyger, H., Vachon, C., Olson, J. E., Wang, X., Levine, D. A., Rudolph, A., Weber, R. P., Flesch-Janys, D., Iversen, E., Nickels, S., Schildkraut, J. M., Silva, I. D. S., Cramer, D. W., Gibson, L., Terry, K. L., Fletcher, O., Vitonis, A. F., van der Schoot, C. E., Poole, E. M., Hogervorst, F. B. L., Tworoger, S. S., Liu, J., Bandera, E. V., Li, J., Olson, S. H., Humphreys, K., Row, I., Blomqvist, C., Rodriguez-Rodriguez, L., Aittomaki, K., Salvesen, H. B., Muranen, T. A., Wik, E., Brouwers, B., Krakstad, C., Wauters, E., Halle, M. K., Wildiers, H., Kiemeney, L. A., Mulot, C., Aben, K. K., Laurent-Puig, P., Altena, A. M., Truong, T., Massuger, L. F. A. G., Benitez, J., Pejovic, T., Arias Perez, J. I., Hoatlin, M., Zamora, M. P., Cook, L. S., Balasubramanian, S. P., Kelemen, L. E., Schneeweiss, A., Le, N. D., Sohn, C., Brooks-Wilson, A., Tomlinson, I., Kerin, M. J., Miller, N., Cybulski, C., Henderson, B. E., Menkiszak, J., Schumacher, F., Wentzensen, N., Marchand, L. L., Yang, H. P., Mulligan, A. M., Glendon, G., Engelholm, S. A., Knight, J. A., Hogdall, C. K., Apicella, C., Gore, M., Tsimiklis, H., Song, H., Southey, M. C., Jager, A., den Ouweland, A. M. W., Brown, R., Martens, J. W. M., Flanagan, J. M., Kriege, M., Paul, J., Margolin, S., Siddiqui, N., Severi, G., Whittemore, A. S., Baglietto, L., McGuire, V., Stegmaier, C., Sieh, W., Mueller, H., Arndt, V., Labreche, F., Gao, Y-T., Goldberg, M. S., Yang, G., Dumont, M., McLaughlin, J. R., Hartmann, A., Ekici, A. B., Beckmann, M. W., Phelan, C. M., Lux, M. P., Permuth-Wey, J., Peissel, B., Sellers, T. A., Ficarazzi, F., Barile, M., Ziogas, A., Ashworth, A., Gentry-Maharaj, A., Jones, M., Ramus, S. J., Orr, N., Menon, U., Pearce, C. L., Bruening, T., Pike, M. C., Ko, Y-D., Lissowska, J., Figueroa, J., Kupryjanczyk, J., Chanock, S. J., Dansonka-Mieszkowska, A., Jukkola-Vuorinen, A., Rzepecka, I. K., Pylkas, K., Bidzinski, M., Kauppila, S., Hollestelle, A., Seynaeve, C., Tollenaar, R. A. E. M., Durda, K., Jaworska, K., Hartikainen, J. M., Kosma, V-M., Kataja, V., Antonenkova, N. N., Long, J., Shrubsole, M., Deming-Halverson, S., Lophatananon, A., Siriwanarangsan, P., Stewart-Brown, S., Ditsch, N., Lichtner, P., Schmutzler, R. K., Ito, H., Iwata, H., Tajima, K., Tseng, C-C., Stram, D. O., van den Berg, D., Yip, C. H., Ikrarn, M. K., Teh, Y-C., Cai, H., Lu, W., Signorello, L. B., Cai, Q., Noh, D-Y., Yoo, K-Y., Miao, H., Iau, P. T-C., Teo, Y. Y., McKay, J., Shapiro, C., Ademuyiwa, F., Fountzilas, G., Hsiung, C-N., Yu, J-C., Hou, M-F., Healey, C. S., Luccarini, C., Peock, S., Stoppa-Lyonnet, D., Peterlongo, P., Rebbeck, T. R., Piedmonte, M., Singer, C. F., Friedman, E., Thomassen, M., Offit, K., Hansen, T. V. O., Neuhausen, S. L., Szabo, C. I., Blanco, I., Garber, J., Narod, S. A., Weitzel, J. N., Montagna, M., Olah, E., Godwin, A. K., Yannoukakos, D., Goldgar, D. E., Caldes, T., Imyanitov, E. N., Tihomirova, L., Arun, B. K., Campbell, I., Mensenkamp, A. R., van Asperen, C. J., van Roozendaa, K. E. P., Meijers-Heijboer, H., Collee, J. M., Oosterwijk, J. C., Hooning, M. J., Rookus, M. A., van der Luijt, R. B., Os, T. A. M., Evans, D. G., Frost, D., Fineberg, E., Barwell, J., Walker, L., Kennedy, M. J., Platte, R., Davidson, R., Ellis, S. D., Cole, T., Bressac-de Paillerets, B., Buecher, B., Damiola, F., Faivre, L., Frenay, M., Sinilnikova, O. M., Caron, O., Giraud, S., Mazoyer, S., Bonadona, V., Caux-Moncoutier, V., Toloczko-Grabarek, A., Gronwald, J., Byrski, T., Spurdle, A. B., Bonanni, B., Zaffaroni, D., Giannini, G., Bernard, L., Dolcetti, R., Manoukian, S., Arnold, N., Engel, C., Deissler, H., Rhiem, K., Niederacher, D., Pendl, H., Sutter, C., Wappenschmidt, B., Åke Borg, Mein, B., Rantala, J., Soller, M., Nathanson, K. L., Domchek, S. M., Rodriguez, G. C., Salani, R., Kaulich, D. G., Tea, M-K., Paluch, S. S., Laitman, Y., Skytte, A-B., Kruse, T. A., Jensen, U. B., Robson, M., Gerdes, A-M., Ejlertsen, B., Foretova, L., Savage, S. A., Lesterm, J., Soucy, P., Kuchenbaecker, K. B., Olswold, C., Cunningham, J. M., Slager, S., Pankratz, V. S., Dicks, E., Lakhani, S. R., Couch, F. J., Hall, P., Monteiro, A. N. A., Gayther, S. A., Pharoah, P. D. P., Reddel, R. R., Goode, E. L., Greene, M. H., Easton, D. F., Berchuck, A., Antoniou, A. C., Chenevix-Trench, G. & Dunning, A. M., 2013, In : Nature Genetics. 45, 4, p. 371-384

    Research output: Contribution to journalArticle

  6. Association Between BRCA1 and BRCA2 Mutations and Survival in Women With Invasive Epithelial Ovarian Cancer

    Bolton, K. L., Chenevix-Trench, G., Goh, C., Sadetzki, S., Ramus, S. J., Karlan, B. Y., Lambrechts, D., Despierre, E., Barrowdale, D., McGuffog, L., Healey, S., Easton, D. F., Sinilnikova, O., Benitez, J., Garcia, M. J., Neuhausen, S., Gail, M. H., Hartge, P., Peock, S., Frost, D. & 55 others, Evans, G., Eeles, R., Godwin, A. K., Daly, M. B., Kwong, A., Ma, E. S. K., Lazaro, C., Blanco, I., Montagna, M., D'Andrea, E., Nicoletto, M. O., Johnatty, S. E., Krueger, S., Jensen, A., Hogdall, E., Goode, E. L., Fridley, B. L., Loud, J. T., Greene, M. H., Mai, P. L., Chetrit, A., Lubin, F., Hirsh-Yechezkel, G., Glendon, G., Andrulis, I. L., Toland, A. E., Senter, L., Gore, M. E., Gourley, C., Michie, C. O., Song, H., Tyrer, J., Whittemore, A. S., McGuire, V., Sieh, W., Ulf Kristoffersson, Håkan Olsson, Åke Borg, Levine, D. A., Steele, L., Beattie, M. S., Chan, S., Nussbaum, R. L., Moysich, K. B., Gross, J., Cass, I., Walsh, C., Li, A. J., Leuchter, R., Gordon, O., Garcia-Closas, M., Gayther, S. A., Chanock, S. J., Antoniou, A. C. & Pharoah, P. D. P., 2012, In : JAMA: The Journal of the American Medical Association. 307, 4, p. 382-390

    Research output: Contribution to journalArticle

  7. Diagnosis of acute promyelocytic leukaemia by RT-PCR: detection of PML-RARA and RARA-PML fusion transcripts

    Borrow, J., Goddard, A. D., Gibbons, B., Katz, F., Swirsky, D., Thoas Fioretos, Dube, I., Winfield, D. A., Kingston, J., Hagemeijer, A., Rees, J. K. H., Lister, T. A. & Solomon, E., 1992, In : British Journal of Haematology. 82, 3, p. 529-540

    Research output: Contribution to journalArticle

  8. Molecular analysis of simple variant translocations in acute promyelocytic leukemia

    Borrow, J., Shipley, J., Howe, K., Kiely, F., Goddard, A., Sheer, D., Srivastava, A., Antony, A. C., Thoas Fioretos & Mitelman, F., 1994, In : Genes, Chromosomes and Cancer. 9, 4, p. 234-243

    Research output: Contribution to journalArticle

  9. Promoter DNA Methylation Pattern Identifies Prognostic Subgroups in Childhood T-Cell Acute Lymphoblastic Leukemia

    Borssen, M., Palmqvist, L., Karrman, K., Abrahamsson, J., Behrendtz, M., Heldrup, J., Forestier, E., Roos, G. & Degerman, S., 2013, In : PLoS ONE. 8, 6, e65373.

    Research output: Contribution to journalArticle

  10. Germline and somatic NF1 mutations in sporadic and NF1-associated malignant peripheral nerve sheath tumours

    Bottillo, I., Ahiquist, T., Brekke, H., Danielsen, S. A., van den Berg, E., Fredrik Mertens, Lothe, R. A. & Dallapiccola, B., 2009, In : Journal of Pathology. 217, 5, p. 693-701

    Research output: Contribution to journalArticle

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