Avdelningen för klinisk genetik

Organisation: avdelning

Fler filtreringsmöjligheter
  1. 2019
  2. 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., Lilljebjörn, H., 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

  3. 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, I : BMC Cancer. 19, 1, 265.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  4. 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, I : Cancers. 11, 3, 402.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. 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, I : Journal of Community Genetics. 10, 1, s. 61-71

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. 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, I : Leukemia. 33, 1, s. 1-14

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  7. 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, I : Journal of Pathology. 247, 1

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  8. 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, Lilljebjörn, H., Stam, R. W., Marcus Järås & Anna K. Hagström-Andersson, 2019, I : Leukemia.

    Forskningsoutput: TidskriftsbidragLetter

  9. 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, I : Histopathology. 74, 7, s. 1098-1102

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. 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, I : Journal of Internal Medicine. 285, 2, s. 187-204

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  11. Massively Parallel Sequencing of Gene Fusion-Associated Sarcomas

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

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  12. Multidimensional intratumour heterogeneity in neuroblastoma

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

    Forskningsoutput: TidskriftsbidragDebate/Note/Editorial

  13. The WNT5A Agonist Foxy5 Reduces the Number of Colonic Cancer Stem Cells in a Xenograft Mouse Model of Human Colonic Cancer

    Janina Osman, Bellamkonda, K., Liu, Q., Tommy Andersson & Anita Sjölander, 2019, I : Anticancer research. 39, 4, s. 1719-1728 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. 2018
  15. 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, I : Genetics in Medicine.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. 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 andraMa, J. & Anna K. Hagström-Andersson, 2018 dec 1, I : Nature Communications. 9, 1, 1770.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. 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, I : Nature Communications. 9, 1, 3662.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  18. 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., Gunilla Jonsson & Anita Sjölander, 2018 nov 28, I : Cancer Letters. 437, s. 13-24 12 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Felix Mitelman, Bertil Johansson, Fredrik Mertens, Schyman, T. & Nils Mandahl, 2018 nov 27, I : Genes Chromosomes and Cancer.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  20. 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, I : Pediatric Blood and Cancer. 65, 11, e27301.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. 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, I : Modern Pathology. 31, 11, s. 1694-1707

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  22. A stroke gene panel for whole-exome sequencing

    Andreea Ilinca, Sofie Samuelsson, Paul Piccinelli, Soller, M., Ulf Kristoffersson & Arne G. Lindgren, 2018 okt 24, I : European Journal of Human Genetics.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. 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, 2018 okt 11, I : Modern Pathology.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  24. 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., 2018 sep, I : Genes Chromosomes and Cancer.

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  25. Whole-exome sequencing exploration of acquired uniparental disomies in B-cell precursor acute lymphoblastic leukemia

    Kristina B. Lundin-Ström, Biloglav, A., Lilljebjörn, H., Rissler, M., Thoas Fioretos, Markus Hansson, Behrendtz, M., Anders Castor, Linda Olsson & Bertil Johansson, 2018 sep, I : Leukemia. 32, 9, s. 2058-2062

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  26. 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, I : Blood Advances. 2, 13, s. 1651-1663

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. 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, I : Nature Genetics. 50, 7, s. 944-950

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  28. 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 andraFabarius, A., Hofmann, W. K., Hochhaus, A., Pfirrmann, M., Mahon, F. X. & EURO-SKI investigators, 2018 jun, I : The Lancet Oncology. 19, 6, s. 747-757

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  29. 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 andraForsén, T., Tuomi, T., Anders H. Rosengren & Leif Groop, 2018 maj, I : The Lancet Diabetes and Endocrinology. 6, 5, s. 361-369

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  30. 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, I : Stem Cell Research. 28, s. 44-47 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  31. 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, I : Journal of Molecular Endocrinology. 60, 3, s. 199-211 13 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  32. 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 andraOrimo, A., Mattias Höglund, Lisa Rydén, Moch, H., Scott, A. M., Eriksson, U. & Kristian Pietras, 2018 mar 12, I : Nature Medicine. 24, s. 463–473

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  33. 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, I : Genes Chromosomes and Cancer. 57, 3, s. 123-139 17 s.

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  34. Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation

    Kaspar Russ, Marote, A., Ekaterina Savchenko, Collin, A., Goldwurm, S., Yuriy Pomeshchik & Laurent Roybon, 2018 mar 1, I : Stem Cell Research. 27, s. 61-64 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  35. 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, I : Stem Cell Research. 27, s. 78-81 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  36. 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, I : Stem Cell Research. 27, s. 90-94 5 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  37. 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, I : Stem Cell Research. 27, s. 82-85 4 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  38. CD36 defines primitive chronic myeloid leukemia cells less responsive to imatinib but vulnerable to antibody-based therapeutic targeting

    Niklas Landberg, Sofia von Palffy, Askmyr, M., Lilljebjörn, H., Carl Sandén, Rissler, M., Mustjoki, S., Hjorth-Hansen, H., Johan Richter, Helena Ågerstam, Marcus Järås & Thoas Fioretos, 2018 feb 28, I : Haematologica. 103, 3, s. 447-455

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  39. Isolated myelosarcoma is characterized by recurrent NFE2 mutations and concurrent preleukemic clones in the bone marrow

    Lazarevic, V., Christina Orsmark-Pietras, Lilljebjörn, H., Louise Pettersson, Rissler, M., Lübking, A., Mats Ehinger, Gunnar Juliusson & Thoas Fioretos, 2018 feb, I : Blood. 131, 5, s. 577-581 5 s.

    Forskningsoutput: TidskriftsbidragLetter

  40. PREPL deficiency: Delineation of the phenotype and development of a functional blood assay

    Régal, L., Mårtensson, E., Maystadt, I., Voermans, N., Lederer, D., Burlina, A., Juan Fita, M. J., Hoogeboom, A. J. M., Olsson Engman, M., Hollemans, T., Schouten, M., Meulemans, S., Tord Jonson, François, I., Gil Ortega, D., Kamsteeg, E. J. & Creemers, J. W. M., 2018 jan 1, I : Genetics in Medicine. 20, 1, s. 109-118 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  41. A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families 11 Medical and Health Sciences 1112 Oncology and Carcinogenesis 11 Medical and Health Sciences 1117 Public Health and Health Services

    Karimi, M., Von Salomé, J., Aravidis, C., Silander, G., Askmalm, M. S., Henriksson, I., Samuel Gebre-Medhin, Frödin, J. E., Björck, E., Lagerstedt-Robinson, K., Lindblom, A. & Tham, E., 2018, I : Hereditary Cancer in Clinical Practice. 16, 1, 16.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  42. Identification and characterization of candidate therapeutic targets in acute myeloid leukemia

    Eriksson, M., 2018, Lund: Lund University, Faculty of Medicine. 69 s.

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  43. Individuals with FANCM biallelic mutations do not develop Fanconi anemia, but show risk for breast cancer, chemotherapy toxicity and may display chromosome fragility

    Catucci, I., Osorio, A., Arver, B., Neidhardt, G., Bogliolo, M., Zanardi, F., Riboni, M., Minardi, S., Pujol, R., Azzollini, J., Peissel, B., Manoukian, S., De Vecchi, G., Casola, S., Hauke, J., Richters, L., Rhiem, K., Schmutzler, R. K., Wallander, K., Törngren, T. & 8 andraÅke Borg, Radice, P., Surrallés, J., Hahnen, E., Hans Ehrencrona, Anders Kvist, Benitez, J. & Peterlongo, P., 2018, I : Genetics in Medicine. 20, s. 452–457 6 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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