Avdelningen för klinisk genetik

Organisation: avdelning

Fler filtreringsmöjligheter
  1. 2010
  2. 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 andraSchoenbuchner, 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

  3. EWSR1 and FUS fusion genes in tumorigenesis

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

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  4. 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

  5. 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

  6. 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

  7. 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

  8. 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

  9. 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

  10. 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

  11. 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

  12. 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

  13. 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

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  21. 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

  22. 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 andraHopkin, 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

  23. 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)

  24. 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

  25. 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 andraZwaan, C. M., 2010, I : Blood. 116, 21, s. 1120-1120

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  26. 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 andraJacobsen, S. E. W., 2010, I : New England Journal of Medicine. 363, 11, s. 1025-1037

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. 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

  28. 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

  29. 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

  30. 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

  31. 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

  32. 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

  33. 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 andraRapakko, 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

  34. 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

  35. 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 andraBennett, J. M., Greenberg, P. L., Germing, U. & Haase, D., 2010, I : Blood. 116, 21, s. 1639-1639

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  36. 2009
  37. HAMLET, a tumoricidal molecular complex from human milk

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

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  38. 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

  39. 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

  40. 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

  41. 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

  42. 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

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

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

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  44. 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

  45. 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

  46. 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

  47. 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