Division of Clinical Genetics

Organisational unit: Division

More filtering options
  1. 2019
  2. Most gene fusions in cancer are stochastic events

    Bertil Johansson, Fredrik Mertens, Schyman, T., Jonas Björk, Nils Mandahl & Felix Mitelman, 2019 Sep, In : Genes Chromosomes and Cancer. 58, 9, p. 607-611 5 p.

    Research output: Contribution to journalArticle

  3. Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene

    Monika Meinert, Elisabet Englund, Hedberg-Oldfors, C., Oldfors, A., Kornhall, B., Lundin, C. & Wittström, E., 2019 Jul 2, In : Ophthalmic Genetics. 40, 3, p. 227–236 11 p.

    Research output: Contribution to journalArticle

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

    Research output: Contribution to journalArticle

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

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

    Research output: Contribution to journalArticle

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

    Ola Forslund, Natsuki Sugiyama, 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

  7. Identification of targetable lesions in anaplastic thyroid cancer by genome profiling

    Naveen Ravi, Minjun Yang, Sigurdur Gretarsson, Jansson, C., Mylona, N., Sydow, S. R., Eleanor L. Woodward, Lars Ekblad, Johan Wennerberg & Kajsa Paulsson, 2019 Mar 22, In : Cancers. 11, 3, 402.

    Research output: Contribution to journalArticle

  8. Clinicians’ use of breast cancer risk assessment tools according to their perceived importance of breast cancer risk factors: an international survey

    Brédart, A., Kop, J. L., Antoniou, A. C., Cunningham, A. P., de Pauw, A., Tischkowitz, M., Hans Ehrencrona, Schmidt, M. K., Dolbeault, S., Rhiem, K., Easton, D. F., Devilee, P., Stoppa-Lyonnet, D. & Schmutlzer, R., 2019 Jan, In : Journal of Community Genetics. 10, 1, p. 61-71

    Research output: Contribution to journalArticle

  9. Genetic predisposition to B-cell acute lymphoblastic leukemia at 14q11.2 is mediated by a CEBPE promoter polymorphism

    Studd, J. B., Minjun Yang, Li, Z., Vijayakrishnan, J., Lu, Y., Yeoh, A. E. J., Kajsa Paulsson & Houlston, R. S., 2019 Jan, In : Leukemia. 33, 1, p. 1-14

    Research output: Contribution to journalArticle

  10. The Iroquois homeobox proteins IRX3 and IRX5 have distinct roles in Wilms tumour development and human nephrogenesis

    Linda Holmquist Mengelbier, Lindell-Munther, S., Hiroaki Yasui, Jansson, C., Esfandyari, J., Jenny Karlsson, Lau, K., Hui, C. C., Daniel Bexell, Hopyan, S. & David Gisselsson, 2019 Jan, In : Journal of Pathology. 247, 1

    Research output: Contribution to journalArticle

  11. 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

  12. Cancer chromosome breakpoints cluster in gene-rich genomic regions

    Felix Mitelman, Bertil Johansson, Fredrik Mertens, Schyman, T. & Nils Mandahl, 2019, In : Genes Chromosomes and Cancer. 58, 3, p. 149-154

    Research output: Contribution to journalArticle

  13. Clonal evolution through genetic bottlenecks and telomere attrition: Potential threats to in vitro data reproducibility

    David Gisselsson, Lichtenzstejn, D., Kachko, P., Jenny Karlsson, Manor, E. & Mai, S., 2019, In : Genes Chromosomes and Cancer. 58, 7, p. 452-461

    Research output: Contribution to journalReview article

  14. FLT3 N676K drives acute myeloid leukemia in a xenograft model of KMT2A-MLLT3 leukemogenesis

    Axel Hyrenius-Wittsten, Mattias Pilheden, Falqués-Costa, A., Eriksson, M., Sturesson, H., Schneider, P., Wander, P., Garcia-Ruiz, C., Liu, J., Helena Ågerstam, Anne Hultquist, Henrik Lilljebjörn, Stam, R. W., Marcus Järås & Anna K. Hagström-Andersson, 2019, In : Leukemia.

    Research output: Contribution to journalLetter

  15. Gene fusion involving the insulin-like growth factor 1 receptor in an ALK-negative inflammatory myofibroblastic tumour

    Piarulli, G., Puls, F., Wängberg, B., Fagman, H., Hansson, M., Nilsson, J., Elsa Arbajian & Fredrik Mertens, 2019, In : Histopathology. 74, 7, p. 1098-1102

    Research output: Contribution to journalArticle

  16. Genetic testing and surveillance guidelines in hereditary pheochromocytoma and paraganglioma

    Muth, A., Crona, J., Gimm, O., Elmgren, A., K. Filipsson, Stenmark Askmalm, M., Sandstedt, J., Tengvar, M. & Tham, E., 2019, In : Journal of Internal Medicine. 285, 2, p. 187-204

    Research output: Contribution to journalReview article

  17. Idiopathic ventricular fibrillation – Long term prognosis in relation to clinical findings and ECG patterns in a Swedish cohort

    U. Chaudhry, P. G. Platonov, Rubulis, A., Bergfeldt, L., Jensen, S. M., Lundin, C. & R. Borgquist, 2019, In : Journal of Electrocardiology. 56, p. 46-51 6 p.

    Research output: Contribution to journalArticle

  18. Massively Parallel Sequencing of Gene Fusion-Associated Sarcomas

    Jakob Hofvander, 2019, Lund: Lund University, Faculty of Medicine. 49 p.

    Research output: ThesisDoctoral Thesis (compilation)

  19. 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

  20. PRDM10 -rearranged Soft Tissue Tumor: A Clinicopathologic Study of 9 Cases

    Puls, F., Pillay, N., Fagman, H., Palin-Masreliez, A., Amary, F., Hansson, M., Kindblom, L. G., McCulloch, T. A., Meligonis, G., Muc, R., Rissler, P., Sumathi, V. P., Tirabosco, R., Jakob Hofvander, Magnusson, L., Nilsson, J., Flanagan, A. M. & Fredrik Mertens, 2019, In : American Journal of Surgical Pathology. 43, 4, p. 504-513

    Research output: Contribution to journalArticle

  21. 2018
  22. 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., Anna Rohlin, Ristimäki, A., Koskenvuo, L., Lepistö, A., Samuel Gebre-Medhin, Nordling, M. & Peltomäki, P., 2018 Dec 21, In : Genetics in Medicine.

    Research output: Contribution to journalArticle

  23. De novo activating mutations drive clonal evolution and enhance clonal fitness in KMT2A-rearranged leukemia

    Hyrenius-Wittsten, A., Pilheden, M., Sturesson, H., Hansson, J., Walsh, M. P., Song, G., Kazi, J. U., Liu, J., Ramakrishan, R., Garcia-Ruiz, C., Nance, S., Gupta, P., Zhang, J., Rönnstrand, L., Hultquist, A., Downing, J. R., Lindkvist-Petersson, K., Paulsson, K., Järås, M., Gruber, T. A. & 2 othersMa, J. & Anna K. Hagström-Andersson, 2018 Dec 1, In : Nature Communications. 9, 1, 1770.

    Research output: Contribution to journalArticle

  24. Different patterns of clonal evolution among different sarcoma subtypes followed for up to 25 years

    Jakob Hofvander, Viklund, B., Isaksson, A., Brosjö, O., Fredrik Vult von Steyern, Rissler, P., Nils Mandahl & Fredrik Mertens, 2018 Dec 1, In : Nature Communications. 9, 1, 3662.

    Research output: Contribution to journalArticle

  25. Montelukast, a CysLT1 receptor antagonist, reduces colon cancer stemness and tumor burden in a mouse xenograft model of human colon cancer

    Bellamkonda, K., Shakti Ranjan Satapathy, Douglas, D., Chandrashekar, N., Selvanesan, B. C., Liu, M., Savari, S., Jonsson, G. & Anita Sjölander, 2018 Nov 28, In : Cancer Letters. 437, p. 13-24 12 p.

    Research output: Contribution to journalArticle

  26. Convergent evolution of 11p allelic loss in multifocal Wilms tumors arising in WT1 mutation carriers

    Anders Valind, Wessman, S., Pal, N., Jenny Karlsson, Tord Jonson, Sandstedt, B. & David Gisselsson, 2018 Nov 1, In : Pediatric Blood and Cancer. 65, 11, e27301.

    Research output: Contribution to journalArticle

  27. Inferior survival for patients with malignant peripheral nerve sheath tumors defined by aberrant TP53

    Høland, M., Kolberg, M., Danielsen, S. A., Bjerkehagen, B., Eilertsen, I. A., Hektoen, M., Nils Mandahl, van Den Berg, E., Smeland, S., Fredrik Mertens, Sundby Hall, K., Picci, P., Sveen, A. & Lothe, R. A., 2018 Nov, In : Modern Pathology. 31, 11, p. 1694-1707

    Research output: Contribution to journalArticle

  28. Gastrointestinal microbiota contributes to the development of murine transfusion-related acute lung injury

    Kapur, R., Kim, M., Johan Rebetz, Hallström, B., Björkman, J. T., Takabe-French, A., Kim, N., Liu, J., Shanmugabhavananthan, S., Milosevic, S., McVey, M. J., Speck, E. R. & John W Semple, 2018 Jul 10, In : Blood Advances. 2, 13, p. 1651-1663

    Research output: Contribution to journalArticle

  29. Four evolutionary trajectories underlie genetic intratumoral variation in childhood cancer

    Jenny Karlsson, Anders Valind, Linda Holmquist Mengelbier, Bredin, S., Louise Cornmark, Jansson, C., Wali, A., Johan Staaf, Viklund, B., Ingrid Øra, Anna Börjesson, Backman, T., Noémie Braekeveldt, Sandstedt, B., Pal, N., Isaksson, A., Lackner, B. G., Tord Jonson, Daniel Bexell & David Gisselsson, 2018 Jul, In : Nature Genetics. 50, 7, p. 944-950

    Research output: Contribution to journalArticle

  30. Discontinuation of tyrosine kinase inhibitor therapy in chronic myeloid leukaemia (EURO-SKI): a prespecified interim analysis of a prospective, multicentre, non-randomised, trial

    Saussele, S., Richter, J., Guilhot, J., Gruber, F. X., Hjorth-Hansen, H., Almeida, A., Janssen, J. J. W. M., Mayer, J., Koskenvesa, P., Panayiotidis, P., Olsson-Strömberg, U., Martinez-Lopez, J., Rousselot, P., Vestergaard, H., Ehrencrona, H., Kairisto, V., Machová Poláková, K., Müller, M. C., Mustjoki, S., Berger, M. G. & 6 othersFabarius, A., Hofmann, W. K., Hochhaus, A., Pfirrmann, M., Mahon, F. X. & EURO-SKI investigators, 2018 Jun, In : The Lancet Oncology. 19, 6, p. 747-757

    Research output: Contribution to journalArticle

  31. Novel subgroups of adult-onset diabetes and their association with outcomes: A data-driven cluster analysis of six variables

    Ahlqvist, E., Storm, P., Käräjämäki, A., Martinell, M., Dorkhan, M., Carlsson, A., Vikman, P., Prasad, R. B., Aly, D. M., Almgren, P., Wessman, Y., Shaat, N., Spégel, P., Mulder, H., Lindholm, E., Melander, O., Hansson, O., Malmqvist, U., Lernmark, Å., Lahti, K. & 4 othersForsén, T., Tuomi, T., Anders H. Rosengren & Leif Groop, 2018 May, In : The Lancet Diabetes and Endocrinology. 6, 5, p. 361-369

    Research output: Contribution to journalArticle

  32. Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene

    Marote, A., Yuriy Pomeshchik, Collin, A., Goldwurm, S., Lamas, N. J., Pinto, L., Salgado, A. J. & Laurent Roybon, 2018 Apr 1, In : Stem Cell Research. 28, p. 44-47 4 p.

    Research output: Contribution to journalArticle

  33. Intact glucose uptake despite deteriorating signaling in adipocytes with high-fat feeding

    Björn Hansson, Sebastian Wasserstrom, Björn Morén, Periwal, V., Petter Vikman, Cushman, S. W., Olga Göransson, Storm, P. & Karin G. Stenkula, 2018 Apr 1, In : Journal of Molecular Endocrinology. 60, 3, p. 199-211 13 p.

    Research output: Contribution to journalArticle

  34. Microenvironmental control of breast cancer subtype elicited through paracrine platelet-derived growth factor-CC signaling

    Roswall, P., Bocci, M., Bartoschek, M., Li, H., Kristiansen, G., Jansson, S., Lehn, S., Sjölund, J., Reid, S., Larsson, C., Eriksson, P., Anderberg, C., Cortez, E., Saal, L. H., Orsmark-Pietras, C., Cordero, E., Haller, B. K., Häkkinen, J., Burvenich, I. J. G., Lim, E. & 7 othersOrimo, A., Mattias Höglund, Lisa Rydén, Moch, H., Scott, A. M., Eriksson, U. & Kristian Pietras, 2018 Mar 12, In : Nature Medicine. 24, p. 463–473

    Research output: Contribution to journalArticle

  35. 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

  36. Generation of a human induced pluripotent stem cell line (CSC-42) from a patient with sporadic form of Parkinson's disease

    Ekaterina Savchenko, Marote, A., Kaspar Russ, Collin, A., Goldwurm, S., Laurent Roybon & Yuriy Pomeshchik, 2018 Mar 1, In : Stem Cell Research. 27, p. 78-81 4 p.

    Research output: Contribution to journalArticle

  37. Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C > T and EX6 del) in the PARK2 gene

    Marote, A., Yuriy Pomeshchik, Goldwurm, S., Collin, A., Lamas, N. J., Pinto, L., Salgado, A. J. & Laurent Roybon, 2018 Mar 1, In : Stem Cell Research. 27, p. 90-94 5 p.

    Research output: Contribution to journalArticle

  38. Generation of an integration-free induced pluripotent stem cell line (CSC-43J) from a patient with sporadic Parkinson's disease

    Marote, A., Yuriy Pomeshchik, Goldwurm, S., Collin, A., Lamas, N. J., Pinto, L., Salgado, A. J. & Laurent Roybon, 2018 Mar 1, In : Stem Cell Research. 27, p. 82-85 4 p.

    Research output: Contribution to journalArticle

Previous 1 2 3 4 5 6 7 8 ...21 Next