Avdelningen för klinisk genetik

Organisation: avdelning

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  1. WHO Classification of Tumours of Soft Tissue and Bone: WHO Classification of Tumours, vol. 5

    World Health Organization, WHO., Fletcher, C. (red.), Bridge, JA. (red.), Hogendoorn, PCW. (red.) & Fredrik Mertens (red.), 2013, 4th uppl. World Health Organization. 468 s.

    Forskningsoutput: Bok/rapportAntologi (redaktör)

  2. SYT-SSX is critical for cyclin D1 expression in synovial sarcoma cells: A gain of function of the t(X;18)(p11.2;q11.2) translocation

    Xie, YT., Skytting, B., Nilsson, G., Gasbarri, A., Haslam, K., Bartolazzi, A., Brodin, B., Nils Mandahl & Larsson, O., 2002, I : Cancer Research. 62, 13, s. 3861-3867

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. Co-existence of SYT-SSX1 and SYT-SSX2 fusions in synovial sarcomas

    Yang, K., Lui, WO., Xie, YT., Zhang, AJ., Skytting, B., Nils Mandahl, Larsson, C. & Larsson, O., 2002, I : Oncogene. 21, 26, s. 4181-4190

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  4. Proteogenomics and Hi-C reveal transcriptional dysregulation in high hyperdiploid childhood acute lymphoblastic leukemia

    Minjun Yang, Vesterlund, M., Siavelis, I., Moura-Castro, L. H., Anders Castor, Thoas Fioretos, Jafari, R., Henrik Lilljebjörn, Odom, D. T., Linda Olsson, Naveen Ravi, Eleanor L. Woodward, Harewood, L., Lehtiö, J. & Kajsa Paulsson, 2019 apr 3, I : Nature Communications. 10, 1, 1519.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. CCL2 secreted from cancer-associated mesothelial cells promotes peritoneal metastasis of ovarian cancer cells through the P38-MAPK pathway

    Hiroaki Yasui, Kajiyama, H., Tamauchi, S., Suzuki, S., Peng, Y., Yoshikawa, N., Sugiyama, M., Nakamura, K. & Kikkawa, F., 2019 sep 21, I : Clinical and Experimental Metastasis.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. 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

  7. Friedreich ataxia in patients with FXN p.R165P point mutation.

    Ygland, E., Taroni, F., Gellera, C., Dunø, M., Johnels, P., Soller, M. & Andreas Puschmann, 2012, I : European Journal of Neurology. 19, suppl1, s. 727-727

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  8. Friedreich's ataxia in patients with FXN p.R165P point mutation

    E. Ygland, Taroni, F., Gellera, C., Duno, M., Johnels, P., Soller, M. & A. Puschmann, 2012 sep 1, I : European Journal of Neurology. 19, Suppl 1, s. 727 1 s.

    Forskningsoutput: TidskriftsbidragPublicerat konferensabstract

  9. 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, I : Parkinsonism & Related Disorders. 20, 8, s. 919-923

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. 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

  11. Efficient Immortalization of Primary Nasopharyngeal Epithelial Cells for EBV Infection Study

    Yip, Y. L., Pang, P. S., Deng, W., Tsang, C. M., Zeng, M., Hau, P. M., Man, C., Jin, Y., Yuen, A. P. W. & Tsao, S. W., 2013, I : PLoS ONE. 8, 10, e78395.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  12. Homozygous deletions of CDKN2A are present in all dic(9;20)(p13.2;q11.2)-positive B-cell precursor acute lymphoblastic leukaemias and may be important for leukaemic transformation

    Zachariadis, V., Schoumans, J., Barbany, G., Heyman, M., Forestier, E., Bertil Johansson, Nordenskjold, M. & Nordgren, A., 2012, I : British Journal of Haematology. 159, 4, s. 488-491

    Forskningsoutput: TidskriftsbidragLetter

  13. Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization

    Zachariadis, V., Schoumans, J., Ofverholm, I., Barbany, G., Halvardsson, E., Forestier, E., Bertil Johansson, Nordenskjold, M. & Nordgren, A., 2014, I : Leukemia. 28, 1, s. 196-198

    Forskningsoutput: TidskriftsbidragLetter

  14. 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

  15. Overexpression of Aurora-A promotes laryngeal cancer progression by enhancing invasive ability and chromosomal instability

    Zhang, H., Chen, X., Jin, Y., Liu, B. & Zhou, L., 2012, I : European Archives of Oto-Rhino-Laryngology. 269, 2, s. 607-614

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. Sequential cytogenetic and molecular cytogenetic characterization of an SV40T-immortalized nasopharyngeal cell line transformed by Epstein-Barr virus latent membrane protein-1 gene

    Zhang, H., Tsao, SW., Jin, C., Strömbeck, B., Yuen, PW., Kwong, YL. & Jin, Y., 2004, I : Cancer Genetics and Cytogenetics. 150, 2, s. 144-152

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. Cytogenetic aberrations in immortalization of esophageal epithelial cells

    Zhang, H., Jin, Y., Chen, XH., Jin, C., Law, S., Tsao, SW. & Kwong, YL., 2006, I : Cancer Genetics and Cytogenetics. 165, 1, s. 25-35

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  18. Papillomavirus type 16 E6/E7 and human telomerase reverse transcriptase in esophageal cell immortalization and early transformation

    Zhang, H., Jin, Y., Chen, X., Jin, C., Law, S., Tsao, S-W. & Kwong, Y-L., 2007, I : Cancer Letters. 245, 1-2, s. 184-194

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  19. Expression profiling of Wilms tumors reveals new candidate genes for different clinical parameters

    Zirn, B., Hartmann, O., Samans, B., Krause, M., Wittmann, S., Fredrik Mertens, Graf, N., Eilers, M. & Gessler, M., 2006, I : International Journal of Cancer. 118, 8, s. 1954-1962

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  20. Omission of doxorubicin from the treatment of stage II-III, intermediate-risk Wilms' tumour (SIOP WT 2001): an open-label, non-inferiority, randomised controlled trial

    Ora, Pritchard-Jones, K., Bergeron, C., de Camargo, B., van den Heuvel-Eibrink, M. M., Acha, T., Godzinski, J., Oldenburger, F., Boccon-Gibod, L., Leuschner, I., Vujanic, G., Sandstedt, B., de Kraker, J., van Tinteren, H., Graf, N. & Ingrid Øra, 2015 sep 19, I : The Lancet. 386, 9999, s. 1156-64

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

    Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group, Olkinuora, A., Nieminen, T. T., Mårtensson, E., Rohlin, A., Ristimäki, A., Koskenvuo, L., Lepistö, A., Samuel Gebre-Medhin, Nordling, M. & Peltomäki, P., 2019, I : Genetics in Medicine. 21, 8, s. 1868-1873

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  22. Outcome of Children With Hypodiploid Acute Lymphoblastic Leukemia: A Retrospective Multinational Study

    Ponte di Legno Childhood ALL Working Group & Kajsa Paulsson, 2019 apr 1, I : Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 37, 10, s. 770-779 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

    KConFab Investigators, Parsons, M. T., Tudini, E., Li, H., Hahnen, E., Wappenschmidt, B., Feliubadaló, L., Aalfs, C. M., Agata, S., Aittomäki, K., Alducci, E., Alonso-Cerezo, M. C., Arnold, N., Auber, B., Austin, R., Azzollini, J., Balmaña, J., Barbieri, E., Bartram, C. R., Blanco, A. & 31 andraBlümcke, B., Bonache, S., Bonanni, B., Åke Borg, Bortesi, B., Brunet, J., Bruzzone, C., Bucksch, K., Cagnoli, G., Caldés, T., Caliebe, A., Caligo, M. A., Calvello, M., Capone, G. L., Caputo, S. M., Carnevali, I., Carrasco, E., Caux-Moncoutier, V., Cavalli, P., Cini, G., Clarke, E. M., Concolino, P., Cops, E. J., Cortesi, L., Couch, F. J., Darder, E., de la Hoya, M., Dean, M., Hans Ehrencrona, Anders Kvist & Therese Törngren, 2019, I : Human Mutation. s. 1557-1578

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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