Avdelningen för klinisk genetik

Organisation: avdelning

Fler filtreringsmöjligheter
  1. 2011
  2. Mutation Update for the PORCN Gene

    Lombardi, M. P., Bulk, S., Celli, J., Lampe, A., Gabbett, M. T., Ousager, L. B., van der Smagt, J. J., Soller, M., Stattin, E-L., Mannens, M. A. M. M., Smigiel, R. & Hennekam, R. C., 2011, I : Human Mutation. 32, 7, s. 723-728

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. Paediatric B-cell precursor acute lymphoblastic leukaemia with t(1;19)(q23;p13): clinical and cytogenetic characteristics of 47 cases from the Nordic countries treated according to NOPHO protocols.

    Andersen, M. K., Autio, K., Barbany, G., Borgström, G., Cavelier, L., Golovleva, I., Heim, S., Heinonen, K., Hovland, R., Johannsson, J. H., Bertil Johansson, Kjeldsen, E., Nordgren, A., Palmqvist, L. & Forestier, E., 2011, I : British Journal of Haematology. 155, s. 235-243

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  4. Presence of FLT3-ITD and high BAALC expression are independent prognostic markers in childhood acute myeloid leukemia

    Staffas, A., Kanduri, M., Hovland, R., Rosenquist, R., Ommen, H. B., Abrahamsson, J., Forestier, E., Jahnukainen, K., Jonsson, O. G., Zeller, B., Palle, J., Lonnerholm, G., Hasle, H., Palmqvist, L. & Hans Ehrencrona, 2011, I : Blood. 118, 22, s. 5905-5913

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. Role of the transcription factor T (brachyury) in the pathogenesis of sporadic chordoma: a genetic and functional-based study

    Presneau, N., Shalaby, A., Ye, H., Pillay, N., Halai, D., Idowu, B., Tirabosco, R., Whitwell, D., Jacques, T. S., Kindblom, L-G., Bruederlein, S., Moeller, P., Leithner, A., Liegl, B., Amary, F. M., Athanasou, N. N., Hogendoorn, P. C. W., Fredrik Mertens, Szuhai, K. & Flanagan, A. M., 2011, I : Journal of Pathology. 223, 3, s. 327-335

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. SMAD4 binds HOXA9 in the cytoplasm and protects primitive hematopoietic cells against nuclear activation by HOXA9 and leukemia transformation.

    Quere, R., Göran Karlsson, Hertwig, F., Rissler, M., Lindqvist, B., Thoas Fioretos, Vandenberghe, P., Slovak, M. L., Cammenga, J. & Stefan Karlsson, 2011, I : Blood. 117, s. 5918-5930

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  7. Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome

    Pansuriya, T. C., van Eijk, R., d'Adamo, P., van Ruler, M. A. J. H., Kuijjer, M. L., Oosting, J., Cleton-Jansen, A-M., van Oosterwijk, J. G., Verbeke, S. L. J., Meijer, D., van Wezel, T., Hansén Nord, K., Sangiorgi, L., Toker, B., Liegl-Atzwanger, B., San-Julian, M., Sciot, R., Limaye, N., Kindblom, L-G., Daugaard, S. & 7 andra, Godfraind, C., Boon, L. M., Vikkula, M., Kurek, K. C., Szuhai, K., French, P. J. & Bovee, J. V. M. G., 2011, I : Nature Genetics. 43, 12, s. 1256-1261

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  8. The frequency and prognostic impact of dic(9;20)(p13.2;q11.2) in childhood B-cell precursor acute lymphoblastic leukemia: results from the NOPHO ALL-2000 trial

    Zachariadis, V., Gauffin, F., Kuchinskaya, E., Heyman, M., Schoumans, J., Blennow, E., Gustafsson, B., Barbany, G., Golovleva, I., Hans Ehrencrona, Cavelier, L., Palmqvist, L., Lonnerholm, G., Nordenskjold, M., Bertil Johansson, Forestier, E. & Nordgren, A., 2011, I : Leukemia. 25, 4, s. 622-628

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. The t(X;6) in subungual exostosis results in transcriptional deregulation of the gene for insulin receptor substrate 4.

    Fredrik Mertens, Möller, E., Nils Mandahl, Picci, P., Perez-Atayde, A. R., Samson, I., Sciot, R. & Debiec-Rychter, M., 2011, I : International Journal of Cancer. 128, s. 487-491

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. Translocation t(7;19)(q22;q13)-a recurrent chromosome aberration in pseudomyogenic hemangioendothelioma?

    Trombetta, D., Magnusson, L., Fredrik Vult von Steyern, Hornick, J. L., Fletcher, C. D. M. & Fredrik Mertens, 2011, I : Cancer genetics. 204, 4, s. 211-215

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  11. Tumor-Infiltrating Macrophages Are Associated with Metastasis Suppression in High-Grade Osteosarcoma: A Rationale for Treatment with Macrophage Activating Agents

    Buddingh, E. P., Kuijjer, M. L., Duim, R. A. J., Buerger, H., Agelopoulos, K., Myklebost, O., Serra, M., Fredrik Mertens, Hogendoom, P. C. W., Lankester, A. C. & Cleton-Jansen, A-M., 2011, I : Clinical Cancer Research. 17, 8, s. 2110-2119

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  12. Tumor-Infiltrating Macrophages Are Associated with Metastasis Suppression in High-Grade Osteosarcoma: A Rationale for Treatment with Macrophage-Activating Agents

    Buddingh, E. P., Kuijjer, M. L., Duim, R., Burger, H., Agelopoulos, K., Myklebost, O., Serra, M., Fredrik Mertens, Hogendoorn, P. C. W., Lankester, A. C. & Cleton-Jansen, A-M., 2011, I : Laboratory Investigation. 91, Feb 26 - Mar 4, 2011, s. 10A

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  13. Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy

    Ljunger, E., Stavreus-Evers, A., Cnattingius, S., Ekbom, A., Lundin, C., Anneren, G. & Sundstrom-Poromaa, I., 2011, I : Fertility and Sterility. 95, 1, s. 221-224

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. 2010
  15. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction

    Antoniou, A. C., Beesley, J., McGuffog, L., Sinilnikova, O. M., Healey, S., Neuhausen, S. L., Ding, Y. C., Rebbeck, T. R., Weitzel, J. N., Lynch, H. T., Isaacs, C., Ganz, P. A., Tomlinson, G., Olopade, O. I., Couch, F. J., Wang, X., Lindor, N. M., Pankratz, V. S., Radice, P., Manoukian, S. & 31 andra, Peissel, B., Zaffaroni, D., Barile, M., Viel, A., Allavena, A., Dall'Olio, V., Peterlongo, P., Szabo, C. I., Zikan, M., Claes, K., Poppe, B., Foretova, L., Mai, P. L., Greene, M. H., Rennert, G., Lejbkowicz, F., Glendon, G., Ozcelik, H., Andrulis, I. L., Thomassen, M., Gerdes, A-M., Sunde, L., Cruger, D., Birk Jensen, U., Caligo, M., Friedman, E., Kaufman, B., Laitman, Y., Helena Jernström, Stenmark-Askmalm, M. & Ontario Cancer Genetics Network, 2010 dec 1, I : Cancer Research. 70, 23, s. 9742-54 13 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. 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 andra, 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, I : Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 19, s. 2859-2868

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. Benchmarks for Cystic Fibrosis carrier screening: A European consensus document

    Castellani, C., Macek, M. J., Cassiman, J-J., Duff, A., Massie, J., ten Kate, L. P., Barton, D., Cutting, G., Dallapiccola, B., Dequeker, E., Girodon, E., Grody, W., Highsmith, E. W., Kaariainen, H., Kruip, S., Morris, M., Pignatti, P. F., Pypops, U., Schwarz, M., Soller, M. & 2 andra, Stuhrman, M. & Cuppens, H., 2010, I : Journal of Cystic Fibrosis. 9, 3, s. 165-178

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  18. Characterization of an alternative transcript of the human CREB3L2 gene.

    Panagopoulos, I., Monsef, N., Collin, A. & Fredrik Mertens, 2010, I : Oncology Reports. 24, 5, s. 1133-1139

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  19. Comparison of high-frequency QRS components and ST-segment elevation to detect and quantify acute myocardial ischemia.

    Ringborn, M., Pettersson, J., Persson, E., Warren, S. G., Pyotr Platonov, Pahlm, O. & Wagner, G. S., 2010, I : Journal of Electrocardiology. 43, s. 113-120

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  20. Concomitant deletions of tumor suppressor genes MEN1 and AIP are essential for the pathogenesis of the brown fat tumor hibernoma.

    Karolin Hansén Nord, Magnusson, L., Isaksson, M., Nilsson, J., Henrik Lilljebjörn, Domanski, H., Kindblom, L-G., Nils Mandahl & Fredrik Mertens, 2010, I : Proceedings of the National Academy of Sciences. Dec, s. 21122-21127

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. dup(19)(q12q13.2): Array-based Genotype-Phenotype Correlation of a New Possibly Obesity-related Syndrome.

    Josef Davidsson, Jahnke, K., Forsgren, M., Collin, A. & Soller, M., 2010, I : Obesity. 18, s. 580-587

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  22. Epigenetic target genes in malignant peripheral nerve sheath tumours identified as surrogate prognostic biomarkers

    Danielsen, S. A., Lind, G. E., Hall, K. S., Smeland, S., van den Berg, E., Fredrik Mertens, Kolberg, M. & Lothe, R. A., 2010, I : EJC Supplements. 8, 5, s. 163

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  23. Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

    Walker, L. C., Fredericksen, Z. S., Wang, X., Tarrell, R., Pankratz, V. S., Lindor, N. M., Beesley, J., Healey, S., Chen, X., Fab, K. C., Stoppa-Lyonnet, D., Tirapo, C., Giraud, S., Mazoyer, S., Muller, D., Fricker, J-P., Delnatte, C., Schmutzler, R. K., Wappenschmidt, B., Engel, C. & 55 andra, Schoenbuchner, I., Deissler, H., Meindl, A., Hogervorst, F. B., Verheus, M., Hooning, M. J., van den Ouweland, A. M. W., Nelen, M. R., Ausems, M. G. E. M., Aalfs, C. M., van Asperen, C. J., Devilee, P., Gerrits, M. M., Waisfisz, Q., Szabo, C. I., Quad, M. S., Easton, D. F., Peock, S., Cook, M., Oliver, C. T., Frost, D., Harrington, P., Evans, D. G., Lalloo, F., Eeles, R., Izatt, L., Chu, C., Davidson, R., Eccles, D., Ong, K-R., Cook, J., Rebbeck, T., Nathanson, K. L., Domchek, S. M., Singer, C. F., Gschwantler-Kaulich, D., Dressler, A-C., Pfeiler, G., Godwin, A. K., Heikkinen, T., Nevanlinna, H., Agnarsson, B. A., Caligo, M. A., Håkan Olsson, Ulf Kristoffersson, Liljegren, A., Arver, B., Karlsson, P., Melin, B., Sinilnikova, O. M., McGuffog, L., Antoniou, A. C., Chenevix-Trench, G., Spurdle, A. B. & Couch, F. J., 2010, I : Breast Cancer Research. 12, 6

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  24. EWSR1 and FUS fusion genes in tumorigenesis

    Möller, E., 2010, Department of Clinical Genetics, Lund University. 132 s.

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  25. Expression of Epstein-Barr Virus-Encoded LMP1 and hTERT Extends the Life Span and Immortalizes Primary Cultures of Nasopharyngeal Epithelial Cells

    Yip, Y-L., Tsang, C-M., Deng, W., Cheung, P-Y., Jin, Y., Cheung, A. L-M., Lung, M. L. & Tsao, S-W., 2010, I : Journal of Medical Virology. 82, 10, s. 1711-1723

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  26. Fusion of the FUS and CREB3L2 genes in a supernumerary ring chromosome in low-grade fibromyxoid sarcoma.

    Bartuma, H., Möller, E., Collin, A., Domanski, H., Fredrik Vult von Steyern, Nils Mandahl & Fredrik Mertens, 2010, I : Cancer Genetics and Cytogenetics. 199, 2, s. 143-146

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. Generation of trisomies in cancer cells by multipolar mitosis and incomplete cytokinesis.

    David Gisselsson Nord, Jin, Y., David Lindgren, Persson, J., Gisselsson, L., Hanks, S., Sehic, D., Linda Holmquist Mengelbier, Ingrid Øra, Rahman, N., Fredrik Mertens, Felix Mitelman & Nils Mandahl, 2010, I : Proceedings of the National Academy of Sciences. 107, 47, s. 20489-20493

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  28. Genetic Abnormalities of the Transcription Factor T (Brachyury) in Sporadic Chordomas

    Ye, H., Shalaby, A., Presneau, N., Pillay, N., Idowu, B., Halai, D., Tirabosco, R., Jacques, T., Fredrik Mertens, Szuhai, K., Kindblom, L., Hogendoom, P. & Flanagan, A. M., 2010, I : The Journal Of Molecular Diagnostics. 12, 6, s. 906-906

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  29. Genetic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.

    Kajsa Paulsson, Forestier, E., Henrik Lilljebjörn, Heldrup, J., Behrendtz, M., Young, B. D. & Bertil Johansson, 2010, I : Proceedings of the National Academy of Sciences. 107, 50, s. 21719-21724

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  30. Genetic Screening in Europe

    Javaher, P., Nyoungui, E., Kaariainen, H., Ulf Kristoffersson, Nippert, I., Sequeiros, J. & Schmidtke, J., 2010, I : Public Health Genomics. 13, 7-8, s. 524-537

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  31. Genome Wide Array Based Methylation Profiling Reveals Preferential Methylation of Homeobox Transcription Factor Genes In Mantle Cell Lymphoma and Pro Apoptotic Genes In Chronic Lymphocytic Leukemia

    Halldorsdottir, A. M., Kanduri, M., Marincevic, M., Goransson, H., Isaksson, A., Mansouri, M., Stamatopoulos, K., Sander, B., Hans Ehrencrona & Rosenquist, R., 2010, I : Blood. 116, 21, s. 239-239

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  32. Genomic Changes in Chromosomes 10, 16, and X in Malignant Peripheral Nerve Sheath Tumors Identify a High-Risk Patient Group.

    Brekke, H. R., Ribeiro, F. R., Kolberg, M., Agesen, T. H., Lind, G. E., Eknæs, M., Hall, K. S., Bjerkehagen, B., van den Berg, E., Teixeira, M. R., Nils Mandahl, Smeland, S., Fredrik Mertens, Skotheim, R. I. & Lothe, R. A., 2010, I : Journal of Clinical Oncology. 28, s. 1573-1582

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  33. Genomic characteristics of soft tissue sarcomas.

    Fredrik Mertens, Panagopoulos, I. & Nils Mandahl, 2010, I : Virchows Archiv: an international journal of pathology. 456, s. 129-139

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  34. Heterogeneous and Complex Rearragements of the Long Arm of Chromosome 6 in Chondromyxoid Fibroma

    Romeo, S., Duim, R. A. J., Bridge, J. A., Fredrik Mertens, de Jong, D., Dal Cin, P., Wijers-Koster, P. M., Debiec, M., Sciot, R., Rosenberg, A., Szuhai, K. & Hogendoorn, P. C. W., 2010, I : Laboratory Investigation. 90, Suppl. 1, s. 27A-27A

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  35. Heterogeneous and Complex Rearragements of the Long Arm of Chromosome 6 in Chondromyxoid Fibroma

    Romeo, S., Duim, R. A. J., Bridge, J. A., Fredrik Mertens, De Jong, D., Dal Cin, P., Wijers-Koster, P. M., Debiec, M., Sciot, R., Rosenberg, A., Szuhai, K. & Hogendoorn, P. C. W., 2010, I : Modern Pathology. 23, Suppl. 1, s. 27A

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  36. Heterogeneous and Complex Rearrangements of Chromosome Arm 6q in Chondromyxoid Fibroma. Delineation of Breakpoints and Analysis of Candidate Target Genes.

    Romeo, S., Duim, R. A. J., Bridge, J. A., Fredrik Mertens, de Jong, D., Dal Cin, P., Wijers-Koster, P. M., Debiec-Rychter, M., Sciot, R., Rosenberg, A. E., Szuhai, K. & Hogendoorn, P. C. W., 2010, I : American Journal of Pathology. 177, 3, s. 1365-1376

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  37. HIF1 alpha isoforms in benign and malignant prostate tissue and their correlation to neuroendocrine differentiation

    Monsef, N., Soller, M., Panagopoulos, I. & Abrahamsson, P-A., 2010, I : BMC Cancer. 10

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  38. How to Handle Genetic Information: A Comparison of Attitudes among Patients and the General Population

    Wolff, K., Brun, W., Kvale, G., Hans Ehrencrona, Soller, M. & Nordin, K., 2010, I : Public Health Genomics. 13, 7-8, s. 396-405

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  39. Integrative analysis of gene expression and copy number alterations using canonical correlation analysis

    Soneson, C., Henrik Lilljebjörn, Thoas Fioretos & Fontes, M., 2010, I : BMC Bioinformatics. 11, 191, s. 1-20

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  40. In Vivo and In Vitro Implications of the Transcription Factor T (Brachyury) in Pathogenesis of Sporadic Chordomas

    Shalaby, A., Presneau, N., Pillay, N., Ye, H., Idowu, B., Halai, D., Tirabosco, R., Jacques, T., Fredrik Mertens, Szuhai, K., Kindblom, L., Hogendoorn, P. & Flanagan, A., 2010, I : Journal of Pathology. 222, s. S6-S6

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  41. Isolation and killing of candidate chronic myeloid leukemia stem cells by antibody targeting of IL-1 receptor accessory protein.

    Marcus Järås, Johnels, P., Hansen, N., Helena Ågerstam, Tsapogas, P., Rissler, M., Lassen, C., Olofsson, T., Bjerrum, O. W., Johan Richter & Thoas Fioretos, 2010, I : Proceedings of the National Academy of Sciences. 107, 37, s. 16280-16285

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  42. Modeling the human 8p11-myeloproliferative syndrome in immunodeficient mice

    Helena Ågerstam, Marcus Järås, Anna Andersson, Johnels, P., Hansen, N., Lassen, C., Rissler, M., David Gisselsson Nord, Olofsson, T., Johan Richter, Xiaolong Fan, Mats Ehinger & Thoas Fioretos, 2010, I : Blood. 116, 12, s. 2103-2111

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  43. Molecular Analysis Expands the Spectrum of Phenotypes Associated with GLI3 Mutations

    Johnston, J. J., Sapp, J. C., Turner, J. T., Amor, D., Aftimos, S., Aleck, K. A., Bocian, M., Bodurtha, J. N., Cox, G. F., Curry, C. J., Day, R., Donnai, D., Field, M., Fujiwara, I., Gabbett, M., Gal, M., Graham, J. M. . J., Hedera, P., Hennekam, R. C. M., Hersh, J. H. & 33 andra, Hopkin, R. J., Kayserili, H., Kidd, A. M. J., Kimonis, V., Lin, A. E., Lynch, S. A., Maisenbacher, M., Mansour, S., McGaughran, J., Mehta, L., Murphy, H., Raygada, M., Robin, N. H., Rope, A. F., Rosenbaum, K. N., Schaefer, G. B., Shealy, A., Smith, W., Soller, M., Sommer, A., Stalker, H. J., Steiner, B., Stephan, M. J., Tilstra, D., Tomkins, S., Trapane, P., Tsai, A. C-H., Van Allen, M. I., Vasudevan, P. C., Zabel, B., Zunich, J., Black, G. C. M. & Biesecker, L. G., 2010, I : Human Mutation. 31, 10, s. 1142-1154

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  44. Molecular and functional studies of ABL1 and FGFR1 fusion oncogenes in myeloproliferative neoplasms

    Helena Ågerstam, 2010, Section of clinical genetics. 64 s.

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  45. Molecular characterisation of a recurrent, semi-cryptic RUNX1 translocation t(7;21) in myelodysplastic syndrome and acute myeloid leukaemia

    Foster, N., Kajsa Paulsson, Sales, M., Cunningham, J., Groves, M., O'Connor, N., Begum, S., Stubbs, T., McMullan, D. J., Griffiths, M., Pratt, N. & Tauro, S., 2010, I : British Journal of Haematology. 148, 6, s. 938-943

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  46. 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 andra, Zwaan, C. M., 2010, I : Blood. 116, 21, s. 1120-1120

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  47. Persistent malignant stem cells in del(5q) myelodysplasia in remission.

    Tehranchi, R., Woll, P. S., Anderson, K., Buza-Vidas, N., Mizukami, T., Mead, A. J., Åstrand-Grundström, I., Strömbeck, B., Biloglav, A., Ferry, H., Dhanda, R. S., Hast, R., Rydén, T., Vyas, P., Göhring, G., Schlegelberger, B., Johansson, B., Hellström, E., List, A., Nilsson, L. & 1 andra, Jacobsen, S. E. W., 2010, I : New England Journal of Medicine. 363, 11, s. 1025-1037

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  48. Prognostic value of gene expression targeted by gain of 17q sequences in malignant peripheral nerve sheath tumours

    Kolberg, M., Agesen, T. H., Holand, M., Brekke, H. R., Skotheim, R. I., Hall, K. S., van den Berg, E., Fredrik Mertens, Smeland, S. & Lothe, R. A., 2010, I : EJC Supplements. 8, 5, s. 122

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  49. Relapsed childhood high hyperdiploid acute lymphoblastic leukemia: presence of preleukemic ancestral clones and the secondary nature of microdeletions and RTK-RAS mutations.

    Josef Davidsson, Kajsa Paulsson, David Lindgren, Henrik Lilljebjörn, Chaplin, T., Forestier, E., Andersen, M. K., Nordgren, A., Rosenquist, R., Thoas Fioretos, Young, B. D. & Bertil Johansson, 2010, I : Leukemia. 24, s. 924-931

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  50. Single cell analysis of the common lymphoid progenitor compartment reveals functional and molecular heterogeneity.

    Månsson, R., Zandi, S., Welinder, E., Tsapogas, P., Sakaguchi, N., David Bryder & Mikael Sigvardsson, 2010, I : Blood. 115, 13, s. 2601-2609

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  51. SMAD4 Sequestrates HOXA9 to Protect Hematopoietic Stem Cells Against Leukemia Transformation

    Quere, R., Göran Karlsson, Hertwig, F., Rissler, M., Lindqvist, B., Thoas Fioretos, Vandenberghe, P., Slovak, M. L., Reckzeh, K., Cammenga, J. & Stefan Karlsson, 2010, I : Blood. 116, 21, s. 1297-1298

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  52. The correlation pattern of acquired copy number changes in 164 ETV6/RUNX1-positive childhood acute lymphoblastic leukemias

    Henrik Lilljebjörn, Soneson, C., Anna Andersson, Heldrup, J., Behrendtz, M., Kawamata, N., Ogawa, S., Koeffler, H. P., Felix Mitelman, Bertil Johansson, Fontes, M. & Thoas Fioretos, 2010, I : Human Molecular Genetics. 19, 16, s. 3150-3158

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  53. The idic(X)(q13) in myeloid malignancies: breakpoint clustering in segmental duplications and association with TET2 mutations.

    Kajsa Paulsson, Haferlach, C., Fonatsch, C., Hagemeijer, A., Klarskov Andersen, M., Slovak, M. L. & Bertil Johansson, 2010, I : Human Molecular Genetics. 19, s. 1507-1514

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  54. The Proportion of Ph+CD34(+)CD38(neg) Leukemic Stem Cells In the Bone Marrow of Newly Diagnosed Patients with Chronic Myeloid Leukemia (CML) In Chronic Phase (CP) Is Variable and Correlates with High Sokal Risk, High Leukocyte Count, Low Hemoglobin Concentration, Splenomegaly and Increased Hematological Toxicity During Initial TKI Therapy Data From a Randomized Phase II NordCML006 Study

    Mustjoki, S., Richter, J., Barbany, G., Dybedal, I., Fioretos, T., Dahl, T. G., Gjertsen, B. T., Hovland, R., Jalkanen, S., Josefsen, D., Koskenvesa, P., Lassen, C., Latvala, K., Majeed, W., Malm, C., Markevarn, B., Moshfegh, A., Ohm, L., Olofsson, T., Stromberg, U. O. & 10 andra, Rapakko, K., Remes, K., Stentoft, J., Stenke, L., Suominen, M., Thunberg, S., Bjerrum, O. W., Simonsson, B., Porkka, K. & Hansen, H. H., 2010, I : Blood. 116, 21, s. 291-292

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  55. Unrelated clones in AML/MDS - characterisation and prognostic relevance

    Fischer, S., Haase, D., Haferlach, C., Bardi, G., Slovak, M., Bertil Johansson, Ohyashiki, K., Sole, F., Ecclache, V., Greenberg, P., LeBeau, M. M., Bennett, J., Prescher, G., Germing, U. & Schanz, J., 2010, I : Onkologie. 33, s. 37-37

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  56. Unrelated Clones In Myelodysplastic Syndromes and Acute Myeloid Leukemia Characterization and Prognostic Relevance

    Schanz, J., Stephanie, F., Haferlach, C., Bardi, G., Slovak, M. L., Eclache, V., Johansson, B., Ohyashiki, K., Sole, F., Prescher, G., Pfeilstocker, M., Nosslinger, T., Fonatsch, C., Lubbert, M., Wimzal, F., Stauder, R., Giagounidis, A., Krieger, O., Hildebrandt, B., Le Beau, M. M. & 4 andra, Bennett, J. M., Greenberg, P. L., Germing, U. & Haase, D., 2010, I : Blood. 116, 21, s. 1639-1639

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  57. 2009
  58. HAMLET, a tumoricidal molecular complex from human milk

    C Svanborg, S Aits, Brest, P., Gustafsson, L., Mok, K., Moreillhon, C., Mossberg, A., Pettersson, J., P Storm & Trulsson, M., 2009 jul 24, I : BMC Proceedings. 3, Suppl 5, s. S11

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  59. Bidirectionality and transcriptional activity of the EWSR1 promoter region

    Möller, E., Nils Mandahl, Iliszko, M., Fredrik Mertens & Panagopoulos, I., 2009 mar, I : Oncology Reports. 21, 3, s. 641-648 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  60. Characterization of the human CREB3L2 gene promoter

    Panagopoulos, I. & Fredrik Mertens, 2009 mar, I : Oncology Reports. 21, 3, s. 615-624 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  61. Balanced and Unbalanced Rearrangement of Chromosome Arm 6q in Chondromyxoid Fibroma (CMF): Delineation of Breakpoints and Analysis of Candidate Target Genes

    Romeo, S., Duim, R. A. J., Fredrik Mertens, De Jong, D., Dal Cin, P., Debiec-Rychter, M., Sciot, R., Rosenberg, A., Szuhai, K. & Hogendoorn, P. C. W., 2009, I : Laboratory Investigation. 89, S1, s. 21A-21A

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  62. B-cell precursor t(8;14)(q11;q32)-positive acute lymphoblastic leukemia in children is strongly associated with Down syndrome or with a concomitant Philadelphia chromosome.

    Lundin, C., Heldrup, J., Ahlgren, T., Olofsson, T. & Bertil Johansson, 2009, I : European Journal of Haematology. 82, 1, s. 46-53

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  63. Bone Marrow Multipotent Mesenchymal Stroma Cells Act as Pericyte-like Migratory Vehicles in Experimental Gliomas.

    Daniel Bexell, Gunnarsson, S., Tormin, A., Anna Darabi, David Gisselsson Nord, Laurent Roybon, Stefan Scheding & Johan Bengzon, 2009, I : Molecular Therapy. 2008, Nov 4., s. 183-190

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  64. Cancer Chromosomes: From Meaningless Noise to Proof of Principle.

    Felix Mitelman, 2009, I : Chromosome Research. 17, s. 9-9

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  65. Characterization of a Hotspot Region on Chromosome 12 for Amplification in Ring Chromosomes in Atypical Lipomatous Tumors

    Trombetta, D., Fredrik Mertens, Lonoce, A., D'Addabbo, P., Rennstam, K., Nils Mandahl & Storlazzi, C. T., 2009, I : Genes, Chromosomes and Cancer. 48, 11, s. 993-1001

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  66. Clinical and cytogenetic features of a population-based consecutive series of 285 pediatric T-cell acute lymphoblastic leukemias: Rare T-cell receptor gene rearrangements are associated with poor outcome.

    Karrman, K., Forestier, E., Heyman, M., K Andersen, M., Autio, K., Blennow, E., Borgström, G., Hans Ehrencrona, Golovleva, I., Heim, S., Heinonen, K., Hovland, R., Johannsson, J. H., Kerndrup, G., Nordgren, A., Palmqvist, L. & Bertil Johansson, 2009, I : Genes, Chromosomes and Cancer. 48, 9, s. 795-805

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  67. Clinical Variability of Waardenburg-Shah Syndrome in Patients With Proximal 13q Deletion Syndrome Including the Endothelin-B Receptor Locus

    Tuysuz, B., Collin, A., Arapoglu, M. & Suyugul, N., 2009, I : American Journal of Medical Genetics. Part A. 149A, 10, s. 2290-2295

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  68. Clonal chromosome aberrations in a sialoblastoma

    Fredrik Mertens, Wahlberg, P. & Domanski, H., 2009, I : Cancer Genetics and Cytogenetics. 189, 1, s. 68-69

    Forskningsoutput: TidskriftsbidragLetter

  69. Cytogenetic Analysis of 101 Giant Cell Tumors of Bone: Nonrandom Patterns of Telomeric Associations and Other Structural Aberrations

    Gorunova, L., Fredrik Vult von Steyern, Storlazzi, T., Bjerkehagen, B., Folleras, G., Heim, S., Nils Mandahl & Fredrik Mertens, 2009, I : Genes, Chromosomes and Cancer. 48, 7, s. 583-602

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  70. Educational priorities and current involvement in genetic practice: a survey of midwives in the Netherlands, UK and Sweden

    Benjamin, C. M., Anionwu, E. N., Ulf Kristoffersson, ten Kate, L. P., Plass, A. M. C., Nippert, I., Julian-Reynier, C., Harris, H. J., Schmidtke, J., Challen, K., Calefato, J. M., Waterman, C., Powell, E. & Harris, R., 2009, I : Midwifery. 25, 5, s. 483-499

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  71. Expression levels of HMGA2 in adipocytic tumors correlate with morphologic and cytogenetic subgroups.

    Bartuma, H., Panagopoulos, I., Collin, A., Trombetta, D., Domanski, H., Nils Mandahl & Fredrik Mertens, 2009, I : Molecular Cancer. 8, Jun 9, 36.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  72. Expression of P190 and P210 BCR/ABL1 in normal human CD34(+) cells induces similar gene expression profiles and results in a STAT5-dependent expansion of the erythroid lineage

    Marcus Järås, Johnels, P., Helena Ågerstam, Lassen, C., Rissler, M., Patrik Edén, Cammenga, J., Olofsson, T., Bjerrum, O. W., Johan Richter, Xiaolong Fan & Thoas Fioretos, 2009, I : Experimental Hematology. 37, 3, s. 367-375

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  73. False-positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha-satellite probe (D18Z1) to chromosome 2.

    Collin, A., Povilas Sladkevicius & Soller, M., 2009, I : Prenatal Diagnosis. 29, s. 1279-1281

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  74. Genetic and epigenetic characterization of pediatric high hyperdiploid acute lymphoblastic leukemia

    Josef Davidsson, 2009, Lund University: Faculty of Medicine. 193 s.

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  75. Genomic profiling of chondrosarcoma: chromosomal patterns in central and peripheral tumors.

    Hallor, K. H., Johan Staaf, Bovée, J. V. M. G., Hogendoorn, P. C. W., Cleton-Jansen, A-M., Knuutila, S., Savola, S., Niini, T., Brosjö, O., Bauer, H. C. F., Fredrik Vult von Steyern, Jonsson, K., Skorpil, M., Nils Mandahl & Fredrik Mertens, 2009, I : Clinical Cancer Research. 15, 8, s. 2685-2694

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  76. 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, I : Journal of Pathology. 217, 5, s. 693-701

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  77. HIF-2 alpha maintains an undifferentiated state in neural crest-like human neuroblastoma tumor-initiating cells

    Alexander Pietras, Hansford, L. M., Sofie Mohlin, Bridges Baxter, E., Jonas Sjölund, David Gisselsson Nord, Rehn, M., Beckman, S., Noguera, R., Navarro, S., Cammenga, J., Fredlund, E., Kaplan, D. R. & Sven Påhlman, 2009, I : Proceedings of the National Academy of Sciences. 106, 39, s. 16805-16810

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  78. High hyperdiploid childhood acute lymphoblastic leukemia.

    Kajsa Paulsson & Bertil Johansson, 2009, I : Genes, Chromosomes and Cancer. 48, s. 637-660

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  79. High-resolution imaging of mitotic instability

    David Gisselsson Nord, 2009, I : Chromosome Research. 17, s. 109-110

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  80. High-resolution imaging of mitotic instability

    David Gisselsson Nord, 2009, I : Chromosome Research. 17, s. 19-20

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  81. Identification of p53 as a strong predictor of survival for patients with malignant peripheral nerve sheath tumors

    Brekke, H. R., Kolberg, M., Skotheim, R. I., Hall, K. S., Bjerkehagen, B., Risberg, B., Domanski, H., Nils Mandahl, Liestol, K., Smeland, S., Danielsen, H. E., Fredrik Mertens & Lothe, R. A., 2009, I : Neuro-Oncology. 11, 5, s. 514-528

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  82. ISCN (2009): Important revisions and new additions to molecular methods for copy number detection for cytogenetic analysis

    Shaffer, L. G., Campbell, L. J., Slovak, M. L., Chaabouni, M., Fukushima, Y., Harrison, C., Liehr, T., Madon, P., Nils Mandahl, Rao, K. W., Rosenberg, C., Schinzel, A., Tonnies, H. & Barber, J. C., 2009, I : Chromosome Research. 17, s. 10-11

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  83. Low frequency of EWSR1 rearrangements in neoplasms classified as high-risk wilms tumors.

    Ildiko Frigyesi, Möller, E., Stewénius, Y., Isaksson, M., Bras, J., Alumets, J., Ingrid Øra, Sandstedt, B. & David Gisselsson Nord, 2009, I : Pediatric Blood & Cancer. 53, s. 683-684

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  84. Low-grade fibromyxoid sarcoma is difficult to diagnose by fine needle aspiration cytology: a cytomorphological study of eight cases.

    Domanski, H., Fredrik Mertens, Panagopoulos, I. & Åkerman, M., 2009, I : Cytopathology. 20, s. 304-314

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  85. Methylation of tumour suppressor gene promoters in the presence and absence of transcriptional silencing in high hyperdiploid acute lymphoblastic leukaemia

    Kajsa Paulsson, An, Q., Moorman, A. V., Parker, H., Molloy, G., Davies, T., Griffiths, M., Ross, F. M., Irving, J., Harrison, C. J., Young, B. D. & Strefford, J. C., 2009, I : British Journal of Haematology. 144, 6, s. 838-847

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  86. Molecular Characterization Of The 12Q13.3-14.1 Recurrent Breakpoint Region On Ring Chromosomes 12 In Atypical Lipomatous Tumors

    Trombetta, D., Lonoce, A., Rennstam, K., Storlazzi, C. T. & Fredrik Mertens, 2009, I : Cellular Oncology. 31, 2, s. 113-113

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  87. No Genomic Aberrations in Langerhans Cell Histiocytosis as Assessed by Diverse Molecular Technologies

    da Costa, C. E. T., Szuhai, K., van Eijk, R., Hoogeboom, M., Sciot, R., Fredrik Mertens, Bjorgvinsdottir, H., Debiec-Rychter, M., de Krijger, R. R., Hogendoorn, P. C. W., Egeler, R. M. & Annels, N. E., 2009, I : Genes, Chromosomes and Cancer. 48, 3, s. 239-249

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  88. t(19;22)(q13;q12) Translocation Leading to the Novel Fusion Gene EWSRI-ZNF444 in Soft Tissue Myoepithelial Carcinoma

    Brandal, P., Panagopoulos, I., Bjerkehagen, B. & Heim, S., 2009, I : Genes, Chromosomes and Cancer. 48, 12, s. 1051-1056

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  89. t(3;21)(q22;q22) leading to truncation of the RYK gene in atypical chronic myeloid leukemia

    Micci, F., Panagopoulos, I., Haugom, L., Andersen, H. K., Tjonnfjord, G. E., Beiske, K. & Heim, S., 2009, I : Cancer Letters. 277, 2, s. 205-211

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift