Division of Clinical Genetics

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  1. GRIA2 is a novel diagnostic marker for solitary fibrous tumour identified through gene expression profiling

    Vivero, M., Doyle, L. A., Fletcher, C. D. M., Fredrik Mertens & Hornick, J. L., 2014, In : Histopathology. 65, 1, p. 71-80

    Research output: Contribution to journalArticle

  2. 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

  3. Genetic anticipation in Swedish Lynch syndrome families

    von Salomé, J., Boonstra, P. S., Karimi, M., Silander, G., Stenmark-Askmalm, M., Samuel Gebre-Medhin, Aravidis, C., Mef Nilbert, Lindblom, A. & Lagerstedt-Robinson, K., 2017 Oct 1, In : PLoS Genetics. 13, 10, e1007012.

    Research output: Contribution to journalArticle

  4. snoRNPs Regulate Telomerase Activity in Neuroblastoma and Are Associated with Poor Prognosis.

    Kristoffer von Stedingk, Koster, J., Piqueras, M., Noguera, R., Navarro, S., Sven Påhlman, Versteeg, R., Ingrid Øra, David Gisselsson Nord, David Lindgren & Håkan Axelson, 2013, In : Translational Oncology. 6, 4, p. 447-U142

    Research output: Contribution to journalArticle

  5. Multidimensional intratumour heterogeneity in neuroblastoma

    Kristoffer Von Stedingk, David Gisselsson & Daniel Bexell, 2019, In : Oncotarget. 10, 1, p. 3-5 3 p.

    Research output: Contribution to journalDebate/Note/Editorial

  6. 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

  7. Functional screen of MSI2 interactors identifies an essential role for SYNCRIP in myeloid leukemia stem cells

    Vu, L. P., Prieto, C., Amin, E. M., Chhangawala, S., Krivtsov, A., Calvo-Vidal, M. N., Chou, T., Chow, A., Minuesa, G., Park, S. M., Barlowe, T. S., Taggart, J., Tivnan, P., Deering, R. P., Chu, L. P., Kwon, J. A., Meydan, C., Perales-Paton, J., Arshi, A., Gönen, M. & 23 others, Famulare, C., Patel, M., Paietta, E., Tallman, M. S., Lu, Y., Glass, J., Garret-Bakelman, F. E., Melnick, A., Levine, R. L., Al-Shahrour, F., Marcus Järås, Hacohen, N., Hwang, A., Garippa, R., Lengner, C. J., Armstrong, S. A., Cerchietti, L., Cowley, G. S., Root, D. E., Doench, J., Leslie, C., Ebert, B. L. & Kharas, M. G., 2017 Jun 1, In : Nature Genetics. 49, 6, p. 866-875 10 p.

    Research output: Contribution to journalArticle

  8. 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 others, 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, In : Breast Cancer Research. 12, 6

    Research output: Contribution to journalArticle

  9. Gene fusion detection in formalin-fixed paraffin-embedded benign fibrous histiocytomas using fluorescence in situ hybridization and RNA sequencing.

    Charles Walther, Jakob Hofvander, Nilsson, J., Magnusson, L., Domanski, H., David Gisselsson Nord, Tayebwa, J., Doyle, L. A., Fletcher, C. D. & Fredrik Mertens, 2015, In : Laboratory Investigation. 95, 9, p. 1071-1076

    Research output: Contribution to journalArticle

  10. Cytogenetic and single nucleotide polymorphism array findings in soft tissue tumors in infants

    Charles Walther, Nilsson, J., Fredrik Vult von Steyern, Thomas Wiebe, Bauer, H. C. F., Karolin Hansén Nord, David Gisselsson, Domanski, H. A., Nils Mandahl & Fredrik Mertens, 2013 Aug 14, In : Cancer genetics. 206, 7-8, p. 299-303 5 p.

    Research output: Contribution to journalArticle

  11. The clinical value of genetic analyses of bone and soft tissue tumors

    Charles Walther, 2016, Division of Clinical Genetics, Lund University. 60 p.

    Research output: ThesisDoctoral Thesis (compilation)

  12. Biphasic, Hyperdiploid Breast Tumors in Children: A Distinct Entity?

    Charles Walther, David Gisselsson Nord, Magnusson, L., Nilsson, J., Grabau, D., Kullendorff, C-M., Karolin Hansén Nord & Fredrik Mertens, 2012, In : Journal of Pediatric Hematology/Oncology.

    Research output: Contribution to journalArticle

  13. 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

  14. Identification of a Novel, Recurrent HEY1-NCOA2 Fusion in Mesenchymal Chondrosarcoma Based on a Genome-Wide Screen of Exon-Level Expression Data

    Wang, L., Motoi, T., Khanin, R., Socci, N., Olshen, A., Fredrik Mertens, Bridge, J., Dal Cin, P., Rushing, E. J., Fanburg-Smith, J., Antonescu, C., Hameed, M. & Ladanyi, M., 2011, In : Laboratory Investigation. 91, p. 23A

    Research output: Contribution to journalPublished meeting abstract

  15. Identification of a novel, recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome-wide screen of exon-level expression data

    Wang, L., Motoi, T., Khanin, R., Olshen, A., Fredrik Mertens, Bridge, J., Dal Cin, P., Antonescu, C. R., Singer, S., Hameed, M., Bovee, J. V. M. G., Hogendoorn, P. C. W., Socci, N. & Ladanyi, M., 2012, In : Genes, Chromosomes and Cancer. 51, 2, p. 127-139

    Research output: Contribution to journalArticle

  16. Comparison of signal quality between EASI and Mason-Likar 12-lead electrocardiograms during physical activity.

    Welinder, A., Leif Sörnmo, Feild, D. Q., Feldman, C. L., Pettersson, J., Wagner, G. S. & Pahlm, O., 2004, In : American Journal of Critical Care. 13, 3, p. 228-234

    Research output: Contribution to journalArticle

  17. 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

  18. Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?

    Wictorin, K., Brådvik, B., Nilsson, K., Soller, M., Danielle van Westen, Bynke, G., Bauer, P., Schöls, L. & Andreas Puschmann, 2014, In : Parkinsonism & Related Disorders. 20, 7, p. 748-754

    Research output: Contribution to journalArticle

  19. Culturing of human tumor cells for use in immune gene tumor therapy

    Widegren, B., Baureus Koch, C., Anna Rydelius, Nyberg, G-B., Järnum, S., Anna Darabi, Peter Siesjö, Edward Visse, Strömblad, S., Blennow, C., Gunnar Skagerberg, Xiaolong Fan, Nils Mandahl, Hans Olov Sjögren, Bertil R Persson & Leif Salford, 2005, In : Neuro-Oncology. 7, 3, p. 371

    Research output: Contribution to journalPublished meeting abstract

  20. Immunological aspects of neural grafting in the mammalian central nervous system

    H Widner, Brundin, P., A Björklund & Möller, E., 1988, In : Progress in Brain Research. 78, p. 303-7 5 p.

    Research output: Contribution to journalArticle

  21. Multiple mechanisms of MYCN dysregulation in Wilms tumour.

    Williams, R. D., Chagtai, T., Alcaide-German, M., Apps, J., Wegert, J., Popov, S., Vujanic, G., van Tinteren, H., van den Heuvel-Eibrink, M. M., Kool, M., de Kraker, J., David Gisselsson Nord, Graf, N., Gessler, M. & Pritchard-Jones, K., 2015, In : Oncotarget. 6, 9, p. 7232-7243

    Research output: Contribution to journalArticle

  22. CHD7 mutation spectrum in 28 Swedish patients diagnosed with CHARGE syndrome

    Wincent, J., Holmberg, E., Stromland, K., Soller, M., Mirzaei, L., Djureinovic, T., Robinson, K. L., Anderlid, B. M. & Schoumans, J., 2008, In : Clinical Genetics. 74, 1, p. 31-38

    Research output: Contribution to journalArticle

  23. 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, In : Public Health Genomics. 13, 7-8, p. 396-405

    Research output: Contribution to journalArticle

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

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

    Research output: Book/ReportAnthology (editor)

  25. 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, In : Cancer Research. 62, 13, p. 3861-3867

    Research output: Contribution to journalArticle

  26. 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, In : Oncogene. 21, 26, p. 4181-4190

    Research output: Contribution to journalArticle

  27. 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, In : Nature Communications. 10, 1, 1519.

    Research output: Contribution to journalArticle

  28. 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

  29. 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, In : Clinical and Experimental Metastasis.

    Research output: Contribution to journalArticle

  30. 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, In : The Journal Of Molecular Diagnostics. 12, 6, p. 906-906

    Research output: Contribution to journalPublished meeting abstract

  31. 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, In : European Journal of Neurology. 19, suppl1, p. 727-727

    Research output: Contribution to journalPublished meeting abstract

  32. 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, In : European Journal of Neurology. 19, Suppl 1, p. 727 1 p.

    Research output: Contribution to journalPublished meeting abstract

  33. 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

  34. 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, In : Journal of Medical Virology. 82, 10, p. 1711-1723

    Research output: Contribution to journalArticle

  35. 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, In : PLoS ONE. 8, 10, e78395.

    Research output: Contribution to journalArticle

  36. 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, In : British Journal of Haematology. 159, 4, p. 488-491

    Research output: Contribution to journalLetter

  37. 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, In : Leukemia. 28, 1, p. 196-198

    Research output: Contribution to journalLetter

  38. 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, In : Leukemia. 25, 4, p. 622-628

    Research output: Contribution to journalArticle

  39. 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, In : European Archives of Oto-Rhino-Laryngology. 269, 2, p. 607-614

    Research output: Contribution to journalArticle

  40. 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, In : Cancer Genetics and Cytogenetics. 150, 2, p. 144-152

    Research output: Contribution to journalArticle

  41. Cytogenetic aberrations in immortalization of esophageal epithelial cells

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

    Research output: Contribution to journalArticle

  42. 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, In : Cancer Letters. 245, 1-2, p. 184-194

    Research output: Contribution to journalArticle

  43. 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, In : International Journal of Cancer. 118, 8, p. 1954-1962

    Research output: Contribution to journalArticle

  44. The spectrum of fancm protein truncating variants in European breast cancer cases

    ENIGMA Consortium , GENESIS Study Collaborators, SWE-BRCA Group, Figlioli, G., Hans Ehrencrona & Peterlongo, P., 2020 Feb, In : Cancers. 12, 2, 292.

    Research output: Contribution to journalArticle

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