Division of Clinical Genetics

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  1. 13q12.2 deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking

    Minjun Yang, Safavi, S., Eleanor L Woodward, Duployez, N., Olsson-arvidsson, L., Jonas Ungerbäck, Mikael Sigvardsson, Zaliova, M., Zuna, J., Thoas Fioretos, Bertil Johansson, Karolin H Nord & Kajsa Paulsson, 2020 May 8, In : Blood.

    Research output: Contribution to journalArticle

  2. Abberant cytogenetic evolution pattern of Philadelphia-positive chronic myeloid leukemia treated with interferon-alpha

    Johansson, B., Thoas Fioretos, Billstrom, R. & Felix Mitelman, 1996, In : Leukemia. 10, 7, p. 1134-1138

    Research output: Contribution to journalArticle

  3. ABCB1 single-nucleotide variants and survival in patients with glioblastoma treated with radiotherapy concomitant with temozolomide

    Malmström, A., Łysiak, M., Åkesson, L., Jakobsen, I., Mudaisi, M., Milos, P., Hallbeck, M., Fomichov, V., Broholm, H., Grunnet, K., Poulsen, H. S., Bratthäll, C., Strandeus, M., Papagiannopoulou, A., Stenmark-Askmalm, M., Green, H. & Söderkvist, P., 2019 Oct 17, In : Pharmacogenomics Journal.

    Research output: Contribution to journalArticle

  4. A Benign Vascular Tumor With a New Fusion Gene: EWSR1-NFATC1 in Hemangioma of the Bone.

    Elsa Arbajian, Magnusson, L., Brosjö, O., Wejde, J., Folpe, A. L., Karolin Hansén Nord & Fredrik Mertens, 2013, In : American Journal of Surgical Pathology. 37, 4, p. 613-616

    Research output: Contribution to journalArticle

  5. Aberrant receptor tyrosine kinase signaling in lipofibromatosis: a clinicopathological and molecular genetic study of 20 cases

    Al-Ibraheemi, A., Folpe, A. L., Perez-Atayde, A. R., Perry, K., Jakob Hofvander, Elsa Arbajian, Magnusson, L., Nilsson, J. & Fredrik Mertens, 2019, In : Modern Pathology. 32, 3, p. 423-434

    Research output: Contribution to journalArticle

  6. Abnormal nuclear shape in solid tumors reflects mitotic instability

    D Gisselsson, J Björk, M Höglund, F Mertens, Dal Cin, P., Akerman, M. & N Mandahl, 2001 Jan, In : American Journal of Pathology. 158, 1, p. 199-206 8 p.

    Research output: Contribution to journalArticle

  7. A breakpoint map of recurrent chromosomal rearrangements in human neoplasia

    Felix Mitelman, Fredrik Mertens & Bertil Johansson, 1997 Apr 1, In : Nature Genetics. 15, 4, p. 417-474 58 p.

    Research output: Contribution to journalArticle

  8. Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

    Chen, Y. H., Grigelioniene, G., Newton, P. T., Gullander, J., Elfving, M., Hammarsjö, A., Batkovskyte, D., Alsaif, H. S., Kurdi, W. I. Y., Abdulwahab, F., Shanmugasundaram, V., Devey, L., Bacrot, S., Brodszki, J., Huber, C., Hamel, B., Gisselsson, D., Papadogiannakis, N., Jedrycha, K., Gürtl-Lackner, B. & 7 others, Chagin, A. S., Nishimura, G., Aschenbrenner, D., Alkuraya, F. S., Laurence, A., Cormier-Daire, V. & Uhlig, H. H., 2020, In : The Journal of experimental medicine. 217, 3, e20191306.

    Research output: Contribution to journalArticle

  9. Absence of mutations of the BRAF gene in malignant melanoma of soft parts (clear cell sarcoma of tendons and aponeuroses)

    Panagopoulos, I., Fredrik Mertens, Isaksson, M. & Nils Mandahl, 2005 Jan 1, In : Cancer Genetics and Cytogenetics. 156, 1, p. 74-76 3 p.

    Research output: Contribution to journalArticle

  10. Abstracts from the Ninth Annual Meeting of the Society for Neuro-Oncology

    Leif Salford, Peter Siesjö, Gunnar Skagerberg, Edward Visse, Anna Darabi, Åsa Lilja, Blennow, C., Strömblad, S., Ask, E., Anna Rydelius, Bertil R Persson, Baureus Koch, C., Elisabet Englund, Larsson, E-M., Nils Mandahl & Widegren, B., 2004, In : Neuro-Oncology. 6, 4, p. 307-400

    Research output: Contribution to journalArticle

  11. A case of Cornelia de Lange syndrome from Sudan

    Ellaithi, M., David Gisselsson Nord, Nilsson, T., Elagib, A., Fadl-Elmula, I. & Abdelgadir, M., 2007, In : BMC Pediatrics. 7, 6.

    Research output: Contribution to journalArticle

  12. A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequences

    D Gisselsson, M Höglund, O'Brien, K. P., Dumanski, J. P., F Mertens & N Mandahl, 1998 Nov 27, In : Cancer Letters. 133, 2, p. 129-34 6 p.

    Research output: Contribution to journalArticle

  13. A certified plasmid reference material for the standardisation of BCR-ABL1 mRNA quantification by real time quantitative PCR.

    White, H., Deprez, L., Corbisier, P., Hall, V., Lin, F., Mazoua, S., Trapmann, S., Aggerholm, A., Andrikovics, H., Akiki, S., Barbany, G., Boeckx, N., Bench, A., Catherwood, M., Cayuela, J-M., Chudleigh, S., Clench, T., Colomer, D., Daraio, F., Dulucq, S. & 51 others, Farrugia, J., Fletcher, L., Foroni, L., Ganderton, R., Gerrard, G., Gineikienė, E., Hayette, S., El Housni, H., Izzo, B., Jansson, M., Johnels, P., Jurcek, T., Kairisto, V., Kizilors, A., Kim, D-W., Lange, T., Lion, T., Polakova, K. M., Martinelli, G., McCarron, S., Merle, P. A., Milner, B., Mitterbauer-Hohendanner, G., Nagar, M., Nickless, G., Nomdedéu, J., Nymoen, D. A., Leibundgut, E. O., Ozbek, U., Pajič, T., Pfeifer, H., Preudhomme, C., Raudsepp, K., Romeo, G., Sacha, T., Talmaci, R., Touloumenidou, T., Van der Velden, V. H. J., Waits, P., Wang, L., Wilkinson, E., Wilson, G., Wren, D., Zadro, R., Ziermann, J., Zoi, K., Müller, M. C., Hochhaus, A., Schimmel, H., Cross, N. C. P. & Emons, H., 2015, In : Leukemia. 29, 2, p. 369-376

    Research output: Contribution to journalArticle

  14. A Comparison of Rectal Suction and Full Wall Biopsy in Hirschsprung’s Disease

    Örnö Ax, S., Einar Arnbjörnsson & David Gisselsson Nord, 2014, In : Surgical Science. 5, p. 15-19

    Research output: Contribution to journalArticle

  15. Activation of the GLI Oncogene through Fusion with the beta-Actin Gene (ACTB) in a Group of Distinctive Pericytic Neoplasms: Pericytoma with t(7;12).

    Dahlén, A., Fletcher, C. D. M., Fredrik Mertens, Fletcher, J. A., Perez-Atayde, A. R., Hicks, M. J., Debiec-Rychter, M., Sciot, R., Wejde, J., Wedin, R., Nils Mandahl & Panagopoulos, I., 2004, In : American Journal of Pathology. 164, 5, p. 1645-1653

    Research output: Contribution to journalArticle

  16. Acute lymphoblastic leukemia

    Harrison, C. J. & Bertil Johansson, 2015, Cancer Cytogenetics: Chromosomal and Molecular Genetic Aberrations of Tumor Cells. Heim, S. & Mitelman, F. (eds.). 4th ed. Wiley-Blackwell, p. 198-251 54 p.

    Research output: Chapter in Book/Report/Conference proceedingBook chapter

  17. Acute myeloid leukemia

    Bertil Johansson & Harrison, C. J., 2015, Cancer Cytogenetics: Chromosomal and Molecular Genetic Aberrations of Tumor Cells. Heim, S. & Mitelman, F. (eds.). 4th ed. Wiley-Blackwell, p. 62-125 64 p.

    Research output: Chapter in Book/Report/Conference proceedingBook chapter

  18. Acute myeloid leukemia with inv(16)(p13q22): Involvement of cervical lymph nodes and tonsils is common and may be a negative prognostic sign.

    Billström, R., Ahlgren, T., Békássy, A., Malm, C., Olofsson, T., Mattias Höglund, Felix Mitelman & Bertil Johansson, 2002, In : American Journal of Hematology. 71, 1, p. 15-19

    Research output: Contribution to journalArticle

  19. Acute myelomonocytic leukemia with inv(16)(p13q22) complicating Philadelphia chromosome positive chronic myeloid leukemia

    Heim, S., Egelund Christensen, B., Thoas Fioretos, Sorensen, A-G. & Tinggaard Pedersen, N., 1992, In : Cancer Genetics and Cytogenetics. 59, 1, p. 35-38

    Research output: Contribution to journalArticle

  20. Acute Traumatic Brain Injury Mortality in the elderly.

    Erik Herou, Romner, B. & Tomasevic, G., 2015, In : Surgical Neurology. 83, 6, p. 996-1001

    Research output: Contribution to journalArticle

  21. Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol

    Barbany, G., Andersen, M. K., Autio, K., Borgstrom, G., Franco, L. C., Golovleva, I., Heim, S., Heinonen, K., Hovland, R., Bertil Johansson, Johannsson, J. H., Kjeldsen, E., Nordgren, A., Palmqvist, L. & Forestier, E., 2012, In : Leukemia Research: A Forum for Studies on Leukemia and Normal Hemopoiesis. 36, 7, p. 936-938

    Research output: Contribution to journalLetter

  22. A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia

    Ellaithi, M., David Gisselsson Nord, Nilsson, T., Abd El-Fatah, S., Ali, T., Elagib, A., Ibrahim, M. E. & Fadl-Elmula, I., 2006, In : BMC Pediatrics. 6, 11

    Research output: Contribution to journalArticle

  23. A field guide for cancer diagnostics using cell-free DNA: From principles to practice and clinical applications

    Volckmar, A. L., Sültmann, H., Riediger, A., Thoas Fioretos, Schirmacher, P., Endris, V., Stenzinger, A. & Dietz, S., 2018 Mar 1, In : Genes Chromosomes and Cancer. 57, 3, p. 123-139 17 p.

    Research output: Contribution to journalReview article

  24. A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.

    Buckley, P. G., Mantripragada, K. K., Benetkiewicz, M., Tapia-Páez, I., Diaz De Ståhl, T., Rosenquist, M., Ali, H., Jarbo, C., De Bustos, C., Hirvelä, C., Sinder Wilén, B., Fransson, I., Thyr, C., Johnsson, B-I., Bruder, C. E. G., Menzel, U., Hergersberg, M., Mandahl, N., Blennow, E., Wedell, A. & 11 others, Beare, D. M., Collins, J. E., Dunham, I., Albertson, D., Pinkel, D., Bastian, B. C., Faruqi, A. F., Lasken, R. S., Ichimura, K., Collins, V. P. & Dumanski, J. P., 2002, In : Human Molecular Genetics. 11, 25, p. 3221-3229

    Research output: Contribution to journalArticle

  25. A gene fusion network in human neoplasia.

    Mattias Höglund, Attila Frigyesi & Felix Mitelman, 2006, In : Oncogene. 25, 18, p. 2674-2678

    Research output: Contribution to journalArticle

  26. A glioma classification scheme based on coexpression modules of EGFR and PDGFRA

    Sun, Y., Zhang, W., Chen, D., Lv, Y., Zheng, J., Henrik Lilljebjörn, Ran, L., Bao, Z., Soneson, C., Hans Olov Sjögren, Leif G. Salford, Jianguang Ji, Frenc, P. J., Thoas Fioretos, Jiang, T. & Xiaolong Fan, 2014 Mar 4, In : Proceedings of the National Academy of Sciences of the United States of America. 111, 9, p. 3538-3543 6 p.

    Research output: Contribution to journalArticle

  27. Agonistic targeting of TLR1/TLR2 induces p38 MAPK-dependent apoptosis and NFκB-dependent differentiation of AML cells

    Eriksson, M., Pablo Peña-Martínez, Ramprasad Ramakrishnan, Chapellier, M., Högberg, C., Glowacki, G., Christina Orsmark-Pietras, Velasco-Hernández, T., Lazarević, V. L., Gunnar Juliusson, Cammenga, J., Mulloy, J. C., Johan Richter, Thoas Fioretos, Ebert, B. L. & Marcus Järås, 2017 Oct 24, In : Blood Advances. 1, 23, p. 2046-2057 12 p.

    Research output: Contribution to journalArticle

  28. A hypothesis-generating search for new genetic breast cancer syndromes - a national study in 803 Swedish families

    von Wachenfeldt, A., Lindblom, A., Gronberg, H., Einbeigi, Z., Rosenquist, R., Gardman, C., Iselius, L., Henriksson, K., Niklas Loman, Ulf Kristoffersson, Håkan Olsson & Johansson, O., 2007, In : Hereditary Cancer in Clinical Practice. 5, 1, p. 17-24

    Research output: Contribution to journalArticle

  29. A large deletion identified in a Swedish family with type 1 VWD

    Johansson, A. M., Lanke, E., Torbjörn Säll, Lethagen, S. & Halldén, C., 2011, In : Thrombosis and Haemostasis. 105, 4, p. 733-734

    Research output: Contribution to journalLetter

  30. Alterations of the fragile histidine triad gene, FHIT, and its encoded products contribute to testicular germ cell tumorigenesis

    Kraggerud, SM., Åman, P., Holm, R., Stenwig, AE., Fossa, SD., Nesland, JM. & Lothe, RA., 2002, In : Cancer Research. 62, 2, p. 512-517

    Research output: Contribution to journalArticle

  31. Altered expression of TGFB receptors and mitogenic effects of TGFB in pancreatic carcinomas

    Tord Jonson, Albrechtsson, E., Axelson, J., Heidenblad, M., Gorunova, L., Bertil Johansson & Mattias Höglund, 2001, In : International Journal of Oncology. 19, 1, p. 71-81

    Research output: Contribution to journalArticle

  32. Alternative lengthening of telomeres-An enhanced chromosomal instability in aggressive non-MYCN amplified and telomere elongated neuroblastomas.

    Lundberg, G., Sehic, D., Länsberg, J-K., Ingrid Øra, Attila Frigyesi, Castel, V., Navarro, S., Piqueras, M., Martinsson, T., Noguera, R. & David Gisselsson Nord, 2011, In : Genes, Chromosomes and Cancer. 50, 4, p. 250-262

    Research output: Contribution to journalArticle

  33. A model for karyotypic evolution in testicular germ cell tumors.

    Attila Frigyesi, David Gisselsson Nord, Hansen, G. B., Soller, M., Felix Mitelman & Mattias Höglund, 2004, In : Genes, Chromosomes and Cancer. 40, 3, p. 172-178

    Research output: Contribution to journalArticle

  34. Amplification and overexpression of Aurora kinase A (AURKA) in immortalized human ovarian epithelial (HOSE) cells

    Chung, C. M., Man, C., Jin, Y., Jin, C., Guan, X. Y., Wang, Q., Wan, T. S. K., Cheung, A. L. M. & Tsao, S. W., 2005, In : Molecular Carcinogenesis. 43, 3, p. 165-174

    Research output: Contribution to journalArticle

  35. Amplification of 12q13 and 12q15 sequences in a sclerosing epithelioid fibrosarcoma

    D Gisselsson, Andreasson, P., Meis-Kindblom, J. M., Kindblom, L. G., F Mertens & N Mandahl, 1998 Dec, In : Cancer Genetics and Cytogenetics. 107, 2, p. 102-106 5 p.

    Research output: Contribution to journalArticle

  36. Amplification of chromosome 1 sequences in lipomatous tumors and other sarcomas

    Nilsson, M. A., Meza-Zepeda, L. A., Fredrik Mertens, Forus, A., Myklebost, O. & Nils Mandahl, 2004 Apr 10, In : International Journal of Cancer. 109, 3, p. 363-369 7 p.

    Research output: Contribution to journalArticle

  37. Amplification of the G allele at SNP rs6983267 in 8q24 amplicons in myeloid malignancies as cause of the lack of MYC overexpression?

    Micale, L., Augello, B., Daniele, G., Macchia, G., L'Abbate, A., Muehlematter, D., Vandenberghe, P., Bertil Johansson, Cabrol, C., Sole, F., Dastugue, N., Slovak, M. L., Lillington, D., Raynaud, S., Lafage, M., Nacheva, E. D., Merla, G. & Storlazzi, C. T., 2011, In : Blood Cells, Molecules & Diseases. 47, 4, p. 259-261

    Research output: Contribution to journalLetter

  38. Amylin inhibits bone resorption while the calcitonin receptor controls bone formation in vivo

    Dacquin, R., Davey, RA., Laplace, C., Levasseur, G., Morris, HA., Goldring, SR., Samuel Gebre-Medhin, Galson, DL., Zajac, JD. & Karsenty, G., 2004, In : Journal of Cell Biology. 164, 4, p. 509-514

    Research output: Contribution to journalArticle

  39. Analysis of giant cell tumour of bone cells for Noonan syndrome/Cherubism-related mutations.

    Moskovszky, L., Idowu, B., Taylor, R., Fredrik Mertens, Athanasou, N. & Flanagan, A., 2012, In : Journal of Oral Pathology & Medicine.

    Research output: Contribution to journalArticle

  40. Analysis of Mice Lacking the Heparin-Binding Splice Isoform of Platelet-Derived Growth Factor A

    Andrae, J., Hans Ehrencrona, Gallini, R., Lal, M., Ding, H. & Betsholtz, C., 2013, In : Molecular and Cellular Biology. 33, 20, p. 4030-4040

    Research output: Contribution to journalArticle

  41. Analysis of the distribution and frequency of trisomy 7 in vivo in synovia from patients with osteoarthritis and pigmented villonodular synovitis

    Dahlén, A., Broberg, K., Domanski, H. A., S Toksvig-Larsen, Lindstrand, A., N Mandahl & F Mertens, 2001 Nov, In : Cancer Genetics and Cytogenetics. 131, 1, p. 19-24 6 p.

    Research output: Contribution to journalArticle

  42. An EcoRI polymorphism at the insulin receptor locus on a fragment comprising exons 4 to 8

    Åman, P., Pejovic, T. & Thoas Fioretos, 1991, In : Nucleic Acids Research. 19, 19, p. 5452-5452

    Research output: Contribution to journalArticle

  43. An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera

    Panagopoulos, I., Fredrik Mertens & Griffin, C. A., 2008 Sep, In : Cancer Genetics and Cytogenetics. 185, 2, p. 74-77 4 p.

    Research output: Contribution to journalArticle

  44. Aneuploidy in cancer: Sudden or sequential?

    David Gisselsson Nord, 2011, In : Cell Cycle. 10, 3, p. 359-361

    Research output: Contribution to journalArticle

  45. A New Method for Endoscopic Sampling of Submucosal Tissue in the Gastrointestinal Tract: A Comparison of the Biopsy Forceps and a New Drill Instrument

    Charles Walther, Martin Jeremiasen, Rissler, P., Jan L M Johansson, Larsson, M. S. & Walther, B. S. C. S., 2016 Dec 1, In : Surgical Innovation. 23, 6, p. 572-580 9 p.

    Research output: Contribution to journalArticle

  46. A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length.

    Langbehn, D., Brinkman, R., Falush, D., Paulsen, J., Hayden, M., Landberg, I., Ulf Kristoffersson & International Huntington's Disease, C. G., 2004, In : Clinical Genetics. 65, 4, p. 267-277

    Research output: Contribution to journalArticle

  47. A new specific chromosomal rearrangement, t(8;16) (p11;p13), in acute monocytic leukaemia

    Heim, S., Avanzi, G-C., Billström, R., Ulf Kristoffersson, Nils Mandahl, Békássy, A., Garwicz, S., Thomas Wiebe, Pegoraro, L., Falda, M., Resegotti, L. & Felix Mitelman, 1987, In : British Journal of Haematology. 66, 3, p. 323-326

    Research output: Contribution to journalArticle

  48. An excess of chromosome 1 breakpoints in male infertility.

    Bache, I., Van Assche, E., Cingoz, S., Bugge, M., Tümer, Z., Hjorth, M., Lundsteen, C., Lespinasse, J., Winther, K., Niebuhr, A., Kalscheuer, V., Liebaers, I., Bonduelle, M., Tournaye, H., Ayuso, C., Barbi, G., Blennow, E., Bourrouillou, G., Brondum-Nielsen, K., Bruun-Petersen, G. & 39 others, Croquette, M-F., Dahoun, S., Dallapiccola, B., Davison, V., Delobel, B., Duba, H-C., Duprez, L., Ferguson-Smith, M., FitzPatrick, D. R., Grace, E., Hansmann, I., Hultén, M., Jensen, P. KA., Jonveaux, P., Ulf Kristoffersson, Lopez-Pajares, I., McGowan-Jordan, J., Murken, J., Orera, M., Parkin, T., Passarge, E., Ramos, C., Rasmussen, K., Schempp, W., Schubert, R., Schwinger, E., Shabtai, F., Smith, K., Stallings, R., Stefanova, M., Tranebjerg, L., Turleau, C., van der Hagen, C. B., Vekemans, M., Kokalj Vokac, N., Wagner, K., Wahlstroem, J., Zelante, L. & Tommerup, N., 2004, In : European Journal of Human Genetics. 12, 12, p. 993-1000

    Research output: Contribution to journalArticle

  49. An improved method for detecting and delineating genomic regions with altered gene expression in cancer

    Björn Nilsson, Johansson, M., Anders Heyden, Nelander, S. & Thoas Fioretos, 2008, In : Genome Biology. 9, 1, R13.

    Research output: Contribution to journalArticle

  50. A Nonsynonymous Polymorphism in IRS1 Modifies Risk of Developing Breast and Ovarian Cancers in BRCA1 and Ovarian Cancer in BRCA2 Mutation Carriers

    Ding, Y. C., McGuffog, L., Healey, S., Friedman, E., Laitman, Y., Paluch-Shimon, S., Kaufman, B., Liljegren, A., Lindblom, A., Olsson, H., Kristoffersson, U., Stenmark-Askmalm, M., Melin, B., Domchek, S. M., Nathanson, K. L., Rebbeck, T. R., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K. & 141 others, Gronwald, J., Huzarski, T., Cybulski, C., Byrski, T., Osorio, A., Ramony Cajal, T., Stavropoulou, A. V., Benitez, J., Hamann, U., Rookus, M., Aalfs, C. M., de Lange, J. L., Meijers-Heijboer, H. E. J., Oosterwijk, J. C., van Asperen, C. J., Garcia, E. B. G., Hoogerbrugge, N., Jager, A., van der Luijt, R. B., Easton, D. F., Peock, S., Frost, D., Ellis, S. D., Platte, R., Fineberg, E., Evans, D. G., Lalloo, F., Izatt, L., Eeles, R., Adlard, J., Davidson, R., Eccles, D., Cole, T., Cook, J., Brewer, C., Tischkowitz, M., Godwin, A. K., Pathak, H., Stoppa-Lyonnet, D., Sinilnikova, O. M., Mazoyer, S., Barjhoux, L., Leone, M., Gauthier-Villars, M., Caux-Moncoutier, V., de Pauw, A., Hardouin, A., Berthet, P., Dreyfus, H., Ferrer, S. F., Collonge-Rame, M-A., Sokolowska, J., Buys, S., Daly, M., Miron, A., Terry, M. B., Chung, W., John, E. M., Southey, M., Goldgar, D., Singer, C. F., Tea, M-K. M., Gschwantler-Kaulich, D., Fink-Retter, A., Hansen, T. V. O., Ejlertsen, B., Johannsson, O. T., Offit, K., Sarrel, K., Gaudet, M. M., Vijai, J., Robson, M., Piedmonte, M. R., Andrews, L., Cohn, D., DeMars, L. R., DiSilvestro, P., Rodriguez, G., Toland, A. E., Montagna, M., Agata, S., Imyanitov, E., Isaacs, C., Janavicius, R., Lazaro, C., Blanco, I., Ramus, S. J., Sucheston, L., Karlan, B. Y., Gross, J., Ganz, P. A., Beattie, M. S., Schmutzler, R. K., Wappenschmidt, B., Meindl, A., Arnold, N., Niederacher, D., Preisler-Adams, S., Gadzicki, D., Varon-Mateeva, R., Deissler, H., Gehrig, A., Sutter, C., Kast, K., Nevanlinna, H., Aittomaki, K., Simard, J., Spurdle, A. B., Beesley, J., Chen, X., Tomlinson, G. E., Weitzel, J., Garber, J. E., Olopade, O. I., Rubinstein, W. S., Tung, N., Blum, J. L., Narod, S. A., Brummel, S., Gillen, D. L., Lindor, N., Fredericksen, Z., Pankratz, V. S., Couch, F. J., Radice, P., Peterlongo, P., Greene, M. H., Loud, J. T., Mai, P. L., Andrulis, I. L., Glendon, G., Ozcelik, H., Gerdes, A-M., Thomassen, M., Jensen, U. B., Skytte, A-B., Caligo, M. A., Lee, A., Chenevix-Trench, G., Antoniou, A. C. & Neuhausen, S. L., 2012, In : Cancer Epidemiology Biomarkers & Prevention. 21, 8, p. 1362-1370

    Research output: Contribution to journalArticle

  51. A novel chromosomal translocation t(3;7)(q26;q21) in myeloid leukemia resulting in overexpression of EVI1

    Storlazzi, C., Anelli, L., Albano, F., Zagaria, A., Ventura, M., Rocchi, M., Panagopoulos, I., Pannunzio, A., Ottaviani, E., Liso, V. & Specchia, G., 2003, In : American Journal of Human Genetics. 73, 5, p. 223

    Research output: Contribution to journalPublished meeting abstract

  52. A novel chromosomal translocation t(3;7)(q26;q21) in myeloid leukemia resulting in overexpression of EVI1

    Storlazzi, CT., Anelli, L., Albano, F., Zagaria, A., Ventura, M., Rocchi, M., Panagopoulos, I., Pannunzio, A., Ottaviani, E., Liso, V. & Specchia, G., 2004, In : Annals of Hematology. 83, 2, p. 78-83

    Research output: Contribution to journalArticle

  53. A novel FISH assay for SS18-SSX fusion type in synovial sarcoma

    Surace, C., Panagopoulos, I., Pålsson, E., Rocchi, M., Nils Mandahl & Fredrik Mertens, 2004 Sep, In : Laboratory Investigation. 84, 9, p. 1185-1192 8 p.

    Research output: Contribution to journalArticle

  54. A novel fusion 5 ' AFF3/3 ' BCL2 originated from a t(2;18)(q11.2;q21.33) translocation in follicular lymphoma

    Impera, L., Albano, F., Lo Cunsolo, C., Funes, S., Iuzzolino, P., Laveder, F., Panagopoulos, I., Rocchi, M. & Storlazzi, C. T., 2008, In : Oncogene. 27, 47, p. 6187-6190

    Research output: Contribution to journalArticle

  55. A Novel Fusion 5'Aff3/3'Bcl2 Originated From A T(2;18)(Q11.2-Q21.33) Translocation In Follicular Lymphoma

    Impera, L., Albano, F., Lo Cunsolo, C., Funes, S., Iuzzolino, P., Laveder, F., Panagopoulos, I., Rocchi, M. & Storlazzi, C. T., 2008, In : Haematologica-The Hematology Journal. 93, p. S27-S27

    Research output: Contribution to journalPublished meeting abstract

  56. A novel fusion gene, SS18L1/SSX1, in synovial sarcoma

    Storlazzi, T., Fredrik Mertens, Nils Mandahl, David Gisselsson, Isaksson, M., Pelle Gustafson, Domanski, H. A. & Panagopoulos, I., 2003 Jun, In : Genes, Chromosomes and Cancer. 37, 2, p. 195-200 6 p.

    Research output: Contribution to journalArticle

  57. A novel human in vitro papillomavirus type 16 positive tonsil cancer cell line with high sensitivity to radiation and cisplatin

    Ola Forslund, Sugiyama, N., Chengjun Wu, Naveen Ravi, Jin, Y., Swoboda, S., Andersson, F., Bzhalava, D., Hultin, E., Kajsa Paulsson, Dillner, J., Stefan Schwartz, Johan Wennerberg & Lars Ekblad, 2019 Mar 25, In : BMC Cancer. 19, 1, 265.

    Research output: Contribution to journalArticle

  58. Antibodies targeting human IL1RAP (IL1R3) show therapeutic effects in xenograft models of acute myeloid leukemia.

    Helena Ågerstam, Christine Karlsson, Hansen, N., Carl Sandén, Askmyr, M., Sofia von Palffy, Högberg, C., Rissler, M., Wunderlich, M., Gunnar Juliusson, Johan Richter, Sjöström, K., Bhatia, R., Mulloy, J. C., Marcus Järås & Thoas Fioretos, 2015, In : Proceedings of the National Academy of Sciences. 112, 34, p. 10786-10791

    Research output: Contribution to journalArticle

  59. Antithymocyte globulin and cyclosporine A as combination therapy for low-risk non-sideroblastic myelodysplastic syndromes

    Broliden, PA., Dahl, IM., Hast, R., Bertil Johansson, Juvonen, E., Kjeldsen, L., Porwit-MacDonald, A., Sjoo, M., Tangen, JM., Uggla, B., Oberg, G. & Hellstrom-Lindberg, E., 2006, In : Haematologica. 91, 5, p. 667-670

    Research output: Contribution to journalArticle

  60. An update of a classical textbook.

    Ulf Kristoffersson, 2016, In : European Journal of Human Genetics. 24, 3, p. 467

    Research output: Contribution to journalReview (Book/Film/Exhibition/etc.)

  61. A PCR/restriction digestion assay for the detection of the transcript variants 1 and 2 of POU5F1.

    Panagopoulos, I., Möller, E., Isaksson, M. & Fredrik Mertens, 2008, In : Genes, Chromosomes and Cancer. 47, p. 521-529

    Research output: Contribution to journalArticle

  62. A Population-Based Single Nucleotide Polymorphism Array Analysis of Genomic Aberrations in Younger Adult Acute Lymphoblastic Leukemia Patients

    Dirse, V., Bertasiute, A., Gineikiene, E., Zvirblis, T., Dambrauskiene, R., Gerbutavicius, R., Juozaityte, E., Malciute, L., Kajsa Paulsson & Griskevicius, L., 2015, In : Genes, Chromosomes and Cancer. 54, 5, p. 326-333

    Research output: Contribution to journalArticle

  63. Approximate geodesic distances reveal biologically relevant structures in microarray data

    Nilsson, J., Thoas Fioretos, Mattias Höglund & Fontes, M., 2004, In : Bioinformatics. 20, 6, p. 874-880

    Research output: Contribution to journalArticle

  64. Are 25 SNPs from the CARDIoGRAM study associated with ischaemic stroke?

    Håkan Lövkvist, Marketa Sjögren, Höglund, P., Gunnar Engström, Jern, C., Olsson, S., Smith, J. G., Bo Hedblad, Gunnar Andsberg, Hossein Delavaran, Jood, K., Ulf Kristoffersson, Bo Norrving, Olle Melander & Arne Lindgren, 2013, In : European Journal of Neurology. 20, 9, p. 1284-1291

    Research output: Contribution to journalArticle

  65. Are occupational, hobby, or lifestyle exposures associated with Philadelphia chromosome positive chronic myeloid leukaemia?

    Jonas Björk, Maria Albin, Welinder, H., Håkan Tinnerberg, Mauritzson, N., Kauppinen, T., Ulf Strömberg, Bertil Johansson, Billström, R., Mikoczy, Z., Ahlgren, T., Nilsson, P. G., Felix Mitelman & Hagmar, L., 2001, In : Occupational and Environmental Medicine. 58, 11, p. 722-727

    Research output: Contribution to journalArticle

  66. A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families 11 Medical and Health Sciences 1112 Oncology and Carcinogenesis 11 Medical and Health Sciences 1117 Public Health and Health Services

    Karimi, M., Von Salomé, J., Aravidis, C., Silander, G., Askmalm, M. S., Henriksson, I., Samuel Gebre-Medhin, Frödin, J. E., Björck, E., Lagerstedt-Robinson, K., Lindblom, A. & Tham, E., 2018, In : Hereditary Cancer in Clinical Practice. 16, 1, 16.

    Research output: Contribution to journalArticle

  67. Array based genetic profiling of bone and soft tissue tumors

    Karolin Hansén Nord, 2008, Department of Clinical Genetics, Lund University. 95 p.

    Research output: ThesisDoctoral Thesis (compilation)

  68. Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12

    Josef Davidsson, Collin, A., Oereberg, M. & David Gisselsson Nord, 2008, In : Clinical Genetics. 73, 1, p. 44-49

    Research output: Contribution to journalArticle

  69. A short history of chromosome rearrangements and gene fusions in cancer

    Felix Mitelman, 2015, Chromosomal Translocations and Genome Rearrangements in Cancer. Rowley, J. D., Le Beau, M. M. & Rabbitts, T. H. (eds.). Springer International Publishing, p. 3-11 9 p.

    Research output: Chapter in Book/Report/Conference proceedingBook chapter

  70. A single-center population-based consecutive series of 1500 cytogenetically investigated adult hematological malignancies: karyotypic features in relation to morphology, age and gender

    Mauritzson, N., Johansson, B., Maria Albin, Billstrom, R., Ahlgren, T., Mikoczy, Z., Nilsson, P-G., Hagmar, L. & Felix Mitelman, 1999, In : European Journal of Haematology. 62, 2, p. 95-102

    Research output: Contribution to journalArticle

  71. Assessing educational priorities in genetics for general practitioners and specialists in five countries: factor structure of the Genetic-Educational Priorities (Gen-EP) scale

    Calefato, J-M., Nippert, I., Harris, H. J., Ulf Kristoffersson, Schmidtke, J., Ten Kate, L. P., Anionwu, E., Benjamin, C., Challen, K., Plass, A-M., Harris, R. & Julian-Reynier, C., 2008, In : Genetics in Medicine. 10, 2, p. 99-106

    Research output: Contribution to journalArticle

  72. Assessment of Fusion Gene Status in Sarcomas Using a Custom Made Fusion Gene Microarray

    Lovf, M., Thomassen, G. O. S., Fredrik Mertens, Cerveira, N., Teixeira, M. R., Lothe, R. A. & Skotheim, R. I., 2013, In : PLoS ONE. 8, 8, e70649.

    Research output: Contribution to journalArticle

  73. Assessment of the clinical and molecular impact of different cytogenetic subgroups in a series of 272 lipomas with abnormal karyotype

    Bartuma, H., Karolin Hansén Nord, Panagopoulos, I., Collin, A., Anders Rydholm, Pelle Gustafson, Bauer, H. C. F., Brosjö, O., Domanski, H. A., Nils Mandahl & Fredrik Mertens, 2007 Jun, In : Genes, Chromosomes and Cancer. 46, 6, p. 594-606 13 p.

    Research output: Contribution to journalArticle

  74. 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

  75. Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness

    Patel, V. L., Åke Borg, Hans Ehrencrona, Rebbeck, T. R., EMBRACE Collaborators & GEMO Study Collaborators, 2020, In : Cancer Research. 80, 3, p. 624-638 15 p.

    Research output: Contribution to journalArticle

  76. Association of the Variants CASP8 D302H and CASP10 V410I with Breast and Ovarian Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.

    Engel, C., Versmold, B., Wappenschmidt, B., Simard, J., Easton, D. F., Peock, S., Cook, M., Oliver, C., Frost, D., Mayes, R., Evans, D. G., Eeles, R., Paterson, J., Brewer, C., McGuffog, L., Antoniou, A. C., Stoppa-Lyonnet, D., Sinilnikova, O. M., Barjhoux, L., Frenay, M. & 48 others, Michel, C., Leroux, D., Dreyfus, H., Toulas, C., Gladieff, L., Uhrhammer, N., Bignon, Y-J., Meindl, A., Arnold, N., Varon-Mateeva, R., Niederacher, D., Preisler-Adams, S., Kast, K., Deissler, H., Sutter, C., Gadzicki, D., Chenevix-Trench, G., Spurdle, A. B., Chen, X., Beesley, J., Håkan Olsson, Ulf Kristoffersson, Hans Ehrencrona, Liljegren, A., van der Luijt, R. B., van Os, T. A., van Leeuwen, F. E., Domchek, S. M., Rebbeck, T. R., Nathanson, K. L., Osorio, A., Ramón Y Cajal, T., Konstantopoulou, I., Benítez, J., Friedman, E., Kaufman, B., Laitman, Y., Mai, P. L., Greene, M. H., Nevanlinna, H., Aittomäki, K., Szabo, C. I., Caldes, T., Couch, F. J., Andrulis, I. L., Godwin, A. K., Hamann, U. & Schmutzler, R. K., 2010, In : Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 19, p. 2859-2868

    Research output: Contribution to journalArticle

  77. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

    Rebbeck, T. R., Mitra, N., Wan, F., Sinilnikova, O. M., Healey, S., McGuffog, L., Mazoyer, S., Chenevix-Trench, G., Easton, D. F., Antoniou, A. C., Nathanson, K. L., Laitman, Y., Kushnir, A., Paluch-Shimon, S., Berger, R., Zidan, J., Friedman, E., Ehrencrona, H., Stenmark-Askmalm, M., Einbeigi, Z. & 238 others, Loman, N., Harbst, K., Rantala, J., Melin, B., Huo, D., Olopade, O. I., Seldon, J., Ganz, P. A., Nussbaum, R. L., Chan, S. B., Odunsi, K., Gayther, S. A., Domchek, S. M., Arun, B. K., Lu, K. H., Mitchell, G., Karlan, B. Y., Walsh, C., Lester, J., Godwin, A. K., Pathak, H., Ross, E., Daly, M. B., Whittemore, A. S., John, E. M., Miron, A., Terry, M. B., Chung, W. K., Goldgar, D. E., Buys, S. S., Janavicius, R., Tihomirova, L., Tung, N., Dorfling, C. M., van Rensburg, E. J., Steele, L., Neuhausen, S. L., Ding, Y. C., Ejlertsen, B., Gerdes, A-M., Hansen, T. V. O., Ramón y Cajal, T., Osorio, A., Benitez, J., Godino, J., Tejada, M-I., Duran, M., Weitzel, J. N., Bobolis, K. A., Sand, S. R., Fontaine, A., Savarese, A., Pasini, B., Peissel, B., Bonanni, B., Zaffaroni, D., Vignolo-Lutati, F., Scuvera, G., Giannini, G., Bernard, L., Genuardi, M., Radice, P., Dolcetti, R., Manoukian, S., Pensotti, V., Gismondi, V., Yannoukakos, D., Fostira, F., Garber, J., Torres, D., Rashid, M. U., Hamann, U., Peock, S., Frost, D., Platte, R., Evans, D. G., Eeles, R., Davidson, R., Eccles, D., Cole, T., Cook, J., Brewer, C., Hodgson, S., Morrison, P. J., Walker, L., Porteous, M. E., Kennedy, M. J., Izatt, L., Adlard, J., Donaldson, A., Ellis, S., Sharma, P., Schmutzler, R. K., Wappenschmidt, B., Becker, A., Rhiem, K., Hahnen, E., Engel, C., Meindl, A., Engert, S., Ditsch, N., Arnold, N., Plendl, H. J., Mundhenke, C., Niederacher, D., Fleisch, M., Sutter, C., Bartram, C. R., Dikow, N., Wang-Gohrke, S., Gadzicki, D., Steinemann, D., Kast, K., Beer, M., Varon-Mateeva, R., Gehrig, A., Weber, B. H., Stoppa-Lyonnet, D., Sinilnikova, O. M., Mazoyer, S., Houdayer, C., Belotti, M., Gauthier-Villars, M., Damiola, F., Boutry-Kryza, N., Lasset, C., Sobol, H., Peyrat, J-P., Muller, D., Fricker, J-P., Collonge-Rame, M-A., Mortemousque, I., Nogues, C., Rouleau, E., Isaacs, C., De Paepe, A., Poppe, B., Claes, K., De Leeneer, K., Piedmonte, M., Rodriguez, G., Wakely, K., Boggess, J., Blank, S. V., Basil, J., Azodi, M., Phillips, K-A., Caldes, T., de la Hoya, M., Romero, A., Nevanlinna, H., Aittomäki, K., van der Hout, A. H., Hogervorst, F. B. L., Verhoef, S., Collée, J. M., Seynaeve, C., Oosterwijk, J. C., Gille, J. J. P., Wijnen, J. T., Garcia, E. B. G., Kets, C. M., Ausems, M. G. E. M., Aalfs, C. M., Devilee, P., Mensenkamp, A. R., Kwong, A., Olah, E., Papp, J., Diez, O., Lazaro, C., Darder, E., Blanco, I., Salinas, M., Jakubowska, A., Lubinski, J., Gronwald, J., Jaworska-Bieniek, K., Durda, K., Sukiennicki, G., Huzarski, T., Byrski, T., Cybulski, C., Toloczko-Grabarek, A., Złowocka-Perłowska, E., Menkiszak, J., Arason, A., Barkardottir, R. B., Simard, J., Laframboise, R., Montagna, M., Agata, S., Alducci, E., Peixoto, A., Teixeira, M. R., Spurdle, A. B., Lee, M. H., Park, S. K., Kim, S-W., Friebel, T. M., Couch, F. J., Lindor, N. M., Pankratz, V. S., Guidugli, L., Wang, X., Tischkowitz, M., Foretova, L., Vijai, J., Offit, K., Robson, M., Rau-Murthy, R., Kauff, N., Fink-Retter, A., Singer, C. F., Rappaport, C., Gschwantler-Kaulich, D., Pfeiler, G., Tea, M-K., Berger, A., Greene, M. H., Mai, P. L., Imyanitov, E. N., Toland, A. E., Senter, L., Bojesen, A., Pedersen, I. S., Skytte, A-B., Sunde, L., Thomassen, M., Moeller, S. T., Kruse, T. A., Jensen, U. B., Caligo, M. A., Aretini, P., Teo, S-H., Selkirk, C. G., Hulick, P. J. & Andrulis, I., 2015, In : JAMA: The Journal of the American Medical Association. 313, 13, p. 1347-1361

    Research output: Contribution to journalArticle

  78. Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers

    Kuchenbaecker, K. B., Niklas Loman, Åke Borg, Hans Ehrencrona, Antoniou, A. C., Håkan Olsson, Helena Jernström, Henriksson, K., Katja Harbst, Soller, M., Ulf Kristoffersson & EMBRACE Study, 2014 Dec 31, In : Breast Cancer Research. 16, 6, p. 1-27 3416.

    Research output: Contribution to journalArticle

  79. Att inte debattera är inte ett alternativ

    Karin Broberg, Ingrid Dunér, Kristofer Hansson, Mats Hansson, Johan Jakobsson, Marcus Järås, Ulf Kristoffersson, Hindrik Mulder, Ana Nordberg, Anna Tunlid, Niklas Vareman & Karin E Wahlberg, 2019 Dec 8, Svenska Dagbladet, Stockholm.

    Research output: Contribution to specialist publication or newspaperNewspaper article

  80. Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.

    EMIL YGLAND, Taroni, F., Gellera, C., Caldarazzo, S., Duno, M., Soller, M. & Andreas Puschmann, 2014, In : Parkinsonism & Related Disorders. 20, 8, p. 919-923

    Research output: Contribution to journalArticle

  81. Atypical lipomatous tumor with rare structural rearrangements involving chromosomes 8 and 12

    Nilsson, M. A., Domanski, H., Fredrik Mertens & Nils Mandahl, 2005 Apr, In : Oncology Reports. 13, 4, p. 649-652 4 p.

    Research output: Contribution to journalArticle

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