Avdelningen för klinisk genetik

Organisation: avdelning

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  1. 13q12.2 deletions in acute lymphoblastic leukemia lead to upregulation of FLT3 through enhancer hijacking

    Minjun Yang, Setareh Safavi, Eleanor L Woodward, Nicolas Duployez, Linda Olsson-arvidsson, Jonas Ungerbäck, Mikael Sigvardsson, Marketa Zaliova, Jan Zuna, Thoas Fioretos, Bertil Johansson, Karolin H Nord & Kajsa Paulsson, 2020 maj 8, I : Blood.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  2. Abberant cytogenetic evolution pattern of Philadelphia-positive chronic myeloid leukemia treated with interferon-alpha

    B Johansson, Thoas Fioretos, R Billstrom & Felix Mitelman, 1996, I : Leukemia. 10, 7, s. 1134-1138

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. ABCB1 single-nucleotide variants and survival in patients with glioblastoma treated with radiotherapy concomitant with temozolomide

    Annika Malmström, Malgorzata Łysiak, Lisa Åkesson, Ingrid Jakobsen, Munila Mudaisi, Peter Milos, Martin Hallbeck, Victoria Fomichov, Helle Broholm, Kirsten Grunnet, Hans Skovgaard Poulsen, Charlotte Bratthäll, Michael Strandeus, Angeliki Papagiannopoulou, Marie Stenmark-Askmalm, Henrik Green & Peter Söderkvist, 2020 apr, I : Pharmacogenomics Journal. 20, 2, s. 213-219 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  4. A Benign Vascular Tumor With a New Fusion Gene: EWSR1-NFATC1 in Hemangioma of the Bone.

    Elsa Arbajian, Linda Magnusson, Otte Brosjö, Johan Wejde, Andrew L Folpe, Karolin Hansén Nord & Fredrik Mertens, 2013, I : American Journal of Surgical Pathology. 37, 4, s. 613-616

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  5. Aberrant epigenetic regulation in clear cell sarcoma of the kidney featuring distinct DNA hypermethylation and EZH2 overexpression.

    Jenny Karlsson, Anders Valind, Caroline Jansson, Maureen J O'Sullivan, Linda Holmquist Mengelbier & David Gisselsson Nord, 2016 mar, I : Oncotarget. 7, 10, s. 11127-36

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  6. Aberrant receptor tyrosine kinase signaling in lipofibromatosis: a clinicopathological and molecular genetic study of 20 cases

    Alyaa Al-Ibraheemi, Andrew L. Folpe, Antonio R. Perez-Atayde, Kyle Perry, Jakob Hofvander, Elsa Arbajian, Linda Magnusson, Jenny Nilsson & Fredrik Mertens, 2019, I : Modern Pathology. 32, 3, s. 423-434

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  7. Abnormal nuclear shape in solid tumors reflects mitotic instability

    D Gisselsson, J Björk, M Höglund, F Mertens, P Dal Cin, M Akerman & N Mandahl, 2001 jan, I : American Journal of Pathology. 158, 1, s. 199-206 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  8. A breakpoint map of recurrent chromosomal rearrangements in human neoplasia

    Felix Mitelman, Fredrik Mertens & Bertil Johansson, 1997 apr 1, I : Nature Genetics. 15, 4, s. 417-474 58 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. Absence of Epstein-Barr and Cytomegalovirus Infection in Neuroblastoma Cells by Standard Detection Methodologies.

    Daniel Sehic, Ola Forslund, Emma Sandén, Linda Holmquist Mengelbier, Jenny Karlsson, Davit Bzhalava, Johanna Ekström, Janina Warenholt, Anna Darabi, Joakim Dillner, Ingrid Øra & David Gisselsson Nord, 2013, I : Pediatric Blood & Cancer. 60, 9, s. E91-E93

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

    Yin Huai Chen, Giedre Grigelioniene, Phillip T. Newton, Jacob Gullander, Maria Elfving, Anna Hammarsjö, Dominyka Batkovskyte, Hessa S. Alsaif, Wesam I.Y. Kurdi, Firdous Abdulwahab, Veerabahu Shanmugasundaram, Luke Devey, Séverine Bacrot, Jana Brodszki, Celine Huber, Ben Hamel, David Gisselsson, Nikos Papadogiannakis, Katarina Jedrycha, Barbara Gürtl-Lackner & 7 andra, Andrei S. Chagin, Gen Nishimura, Dominik Aschenbrenner, Fowzan S. Alkuraya, Arian Laurence, Valérie Cormier-Daire & Holm H. Uhlig, 2020, I : The Journal of experimental medicine. 217, 3, e20191306.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  11. Absence of mutations of the BRAF gene in malignant melanoma of soft parts (clear cell sarcoma of tendons and aponeuroses)

    Ioannis Panagopoulos, Fredrik Mertens, Margareth Isaksson & Nils Mandahl, 2005 jan 1, I : Cancer Genetics and Cytogenetics. 156, 1, s. 74-76 3 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  12. Abstracts from the Ninth Annual Meeting of the Society for Neuro-Oncology

    Leif Salford, Peter Siesjö, Gunnar Skagerberg, Edward Visse, Anna Darabi, Åsa Lilja, Catarina Blennow, Susanne Strömblad, Eva Ask, Anna Rydelius, Bertil R Persson, Catrin Baureus Koch, Elisabet Englund, Elna-Marie Larsson, Nils Mandahl & Bengt Widegren, 2004, I : Neuro-Oncology. 6, 4, s. 307-400

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  13. A case of Cornelia de Lange syndrome from Sudan

    Mona Ellaithi, David Gisselsson Nord, Therese Nilsson, Atif Elagib, Imad Fadl-Elmula & Mashair Abdelgadir, 2007, I : BMC Pediatrics. 7, 6.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. A case of dermatofibrosarcoma protuberans with a ring chromosome 5 and a rearranged chromosome 22 containing amplified COL1A1 and PDGFB sequences

    D Gisselsson, M Höglund, K P O'Brien, J P Dumanski, F Mertens & N Mandahl, 1998 nov 27, I : Cancer Letters. 133, 2, s. 129-34 6 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  15. A certified plasmid reference material for the standardisation of BCR-ABL1 mRNA quantification by real time quantitative PCR.

    H White, L Deprez, P Corbisier, V Hall, F Lin, S Mazoua, S Trapmann, A Aggerholm, H Andrikovics, S Akiki, G Barbany, N Boeckx, A Bench, M Catherwood, J-M Cayuela, S Chudleigh, T Clench, D Colomer, F Daraio, S Dulucq & 51 andra, J Farrugia, L Fletcher, L Foroni, R Ganderton, G Gerrard, E Gineikienė, S Hayette, H El Housni, B Izzo, M Jansson, Petra Johnels, T Jurcek, V Kairisto, A Kizilors, D-W Kim, T Lange, T Lion, K M Polakova, G Martinelli, S McCarron, P A Merle, B Milner, G Mitterbauer-Hohendanner, M Nagar, G Nickless, J Nomdedéu, D A Nymoen, E O Leibundgut, U Ozbek, T Pajič, H Pfeifer, C Preudhomme, K Raudsepp, G Romeo, T Sacha, R Talmaci, T Touloumenidou, V H J Van der Velden, P Waits, L Wang, E Wilkinson, G Wilson, D Wren, R Zadro, J Ziermann, K Zoi, M C Müller, A Hochhaus, H Schimmel, N C P Cross & H Emons, 2015, I : Leukemia. 29, 2, s. 369-376

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  16. A Comparison of Rectal Suction and Full Wall Biopsy in Hirschsprung’s Disease

    Sofie Örnö Ax, Einar Arnbjörnsson & David Gisselsson Nord, 2014, I : Surgical Science. 5, s. 15-19

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  17. Activation of the GLI Oncogene through Fusion with the beta-Actin Gene (ACTB) in a Group of Distinctive Pericytic Neoplasms: Pericytoma with t(7;12).

    Anna Dahlén, Christopher D M Fletcher, Fredrik Mertens, Jonathan A Fletcher, Antonio R Perez-Atayde, M John Hicks, Maria Debiec-Rychter, Raf Sciot, Johan Wejde, Rikard Wedin, Nils Mandahl & Ioannis Panagopoulos, 2004, I : American Journal of Pathology. 164, 5, s. 1645-1653

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  18. Acute lymphoblastic leukemia

    Christine J. Harrison & Bertil Johansson, 2015, Cancer Cytogenetics: Chromosomal and Molecular Genetic Aberrations of Tumor Cells. Heim, S. & Mitelman, F. (red.). 4th uppl. Wiley-Blackwell, s. 198-251 54 s.

    Forskningsoutput: Kapitel i bok/rapport/Conference proceedingKapitel samlingsverk

  19. Acute myeloid leukemia

    Bertil Johansson & Christine J. Harrison, 2015, Cancer Cytogenetics: Chromosomal and Molecular Genetic Aberrations of Tumor Cells. Heim, S. & Mitelman, F. (red.). 4th uppl. Wiley-Blackwell, s. 62-125 64 s.

    Forskningsoutput: Kapitel i bok/rapport/Conference proceedingKapitel samlingsverk

  20. Acute myeloid leukemia with inv(16)(p13q22): Involvement of cervical lymph nodes and tonsils is common and may be a negative prognostic sign.

    R Billström, T Ahlgren, Albert Békássy, C Malm, Tor Olofsson, Mattias Höglund, Felix Mitelman & Bertil Johansson, 2002, I : American Journal of Hematology. 71, 1, s. 15-19

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. Acute myelomonocytic leukemia with inv(16)(p13q22) complicating Philadelphia chromosome positive chronic myeloid leukemia

    Sverre Heim, Bjarne Egelund Christensen, Thoas Fioretos, Anne-Grethe Sorensen & Niels Tinggaard Pedersen, 1992, I : Cancer Genetics and Cytogenetics. 59, 1, s. 35-38

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  22. Acute Traumatic Brain Injury Mortality in the elderly.

    Erik Herou, Bertil Romner & Gregor Tomasevic, 2015, I : Surgical Neurology. 83, 6, s. 996-1001

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. Additional aberrations of the ETV6 and RUNX1 genes have no prognostic impact in 229 t(12;21)(p13;q22)-positive B-cell precursor acute lymphoblastic leukaemias treated according to the NOPHO-ALL-2000 protocol

    Gisela Barbany, Mette K. Andersen, Kirsti Autio, Georg Borgstrom, Lucia Cavalier Franco, Irina Golovleva, Sverre Heim, Kristina Heinonen, Randi Hovland, Bertil Johansson, Johann H. Johannsson, Eigil Kjeldsen, Ann Nordgren, Lars Palmqvist & Erik Forestier, 2012, I : Leukemia Research: A Forum for Studies on Leukemia and Normal Hemopoiesis. 36, 7, s. 936-938

    Forskningsoutput: TidskriftsbidragLetter

  24. A del(X)(p11) carrying SRY sequences in an infant with ambiguous genitalia

    M Ellaithi, David Gisselsson Nord, Therese Nilsson, S Abd El-Fatah, T Ali, A Elagib, M E Ibrahim & I Fadl-Elmula, 2006, I : BMC Pediatrics. 6, 11

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  25. Adherent Intestinal Cells From Atlantic Salmon Show Phagocytic Ability and Express Macrophage-Specific Genes

    Youngjin Park, Qirui Zhang, Geert F. Wiegertjes, Jorge M.O. Fernandes & Viswanath Kiron, 2020 okt 15, I : Frontiers in cell and developmental biology. 8, 580848.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  26. A dynamic mutational landscape associated with an inter-regionally diverse immune response in malignant rhabdoid tumour

    Hiroaki Yasui, Anders Valind, Jenny Karlsson, Christina Pietras, Caroline Jansson, Joakim Wille, Patrik Romerius, Torbjörn Backman & David Gisselsson, 2020 jun 16, I : Journal of Pathology. e5490.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. A field guide for cancer diagnostics using cell-free DNA: From principles to practice and clinical applications

    Anna Lena Volckmar, Holger Sültmann, Anja Riediger, Thoas Fioretos, Peter Schirmacher, Volker Endris, Albrecht Stenzinger & Steffen Dietz, 2018 mar 1, I : Genes Chromosomes and Cancer. 57, 3, s. 123-139 17 s.

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  28. A full-coverage, high-resolution human chromosome 22 genomic microarray for clinical and research applications.

    Patrick G. Buckley, Kiran K. Mantripragada, Magdalena Benetkiewicz, Isabel Tapia-Páez, Teresita Diaz De Ståhl, Magnus Rosenquist, Haider Ali, Caroline Jarbo, Cecilía De Bustos, Carina Hirvelä, Birgitta Sinder Wilén, Ingegerd Fransson, Charlotte Thyr, Britt-Inger Johnsson, Carl E.G. Bruder, Uwe Menzel, Martin Hergersberg, Nils Mandahl, Elisabeth Blennow, Anna Wedell & 11 andra, David M. Beare, John E. Collins, Ian Dunham, Donna Albertson, Daniel Pinkel, Boris C. Bastian, A. Fawad Faruqi, Roger S. Lasken, Koichi Ichimura, V. Peter Collins & Jan P. Dumanski, 2002, I : Human Molecular Genetics. 11, 25, s. 3221-3229

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  29. A gene expression-based single sample predictor of lung adenocarcinoma molecular subtype and prognosis

    Helena Liljedahl, Anna Karlsson, Gudrun N. Oskarsdottir, Annette Salomonsson, Hans Brunnström, Gigja Erlingsdottir, Mats Jönsson, Sofi Isaksson, Elsa Arbajian, Cristian Ortiz-Villalón, Aziz Hussein, Bengt Bergman, Anders Vikström, Nastaran Monsef, Eva Branden, Hirsh Koyi, Luigi de Petris, Annika Patthey, Annelie F. Behndig, Mikael Johansson & 2 andra, Maria Planck & Johan Staaf, 2020 aug 3, I : International Journal of Cancer.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  30. A gene fusion network in human neoplasia.

    Mattias Höglund, Attila Frigyesi & Felix Mitelman, 2006, I : Oncogene. 25, 18, s. 2674-2678

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  31. A glioma classification scheme based on coexpression modules of EGFR and PDGFRA

    Yingyu Sun, Wei Zhang, Dongfeng Chen, Yuhong Lv, Junxiong Zheng, Henrik Lilljebjörn, Liang Ran, Zhaoshi Bao, Charlotte Soneson, Hans Olov Sjögren, Leif G. Salford, Jianguang Ji, Pim J. Frenc, Thoas Fioretos, Tao Jiang & Xiaolong Fan, 2014 mar 4, I : Proceedings of the National Academy of Sciences of the United States of America. 111, 9, s. 3538-3543 6 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  32. Agonistic targeting of TLR1/TLR2 induces p38 MAPK-dependent apoptosis and NFκB-dependent differentiation of AML cells

    Mia Eriksson, Pablo Peña-Martínez, Ramprasad Ramakrishnan, Marion Chapellier, Carl Högberg, Gabriella Glowacki, Christina Orsmark-Pietras, Talía Velasco-Hernández, Vladimir Lj Lazarević, Gunnar Juliusson, Jörg Cammenga, James C Mulloy, Johan Richter, Thoas Fioretos, Benjamin L Ebert & Marcus Järås, 2017 okt 24, I : Blood Advances. 1, 23, s. 2046-2057 12 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  33. A high-content cytokine screen identifies myostatin propeptide as a positive regulator of primitive chronic myeloid leukemia cells

    Sofia von Palffy, Niklas Landberg, Carl Sandén, Dimitra Zacharaki, Mansi Shah, Naoto Nakamichi, Nils Hansen, Maria Askmyr, Henrik Lilljebjörn, Marianne Rissler, Christine Karlsson, Stefan Scheding, Johan Richter, Connie J. Eaves, Ravi Bhatia, Marcus Järås & Thoas Fioretos, 2020, I : Haematologica. 105, 8, s. 2095-2104 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  34. A hypothesis-generating search for new genetic breast cancer syndromes - a national study in 803 Swedish families

    Anna von Wachenfeldt, Annika Lindblom, Henrik Gronberg, Zakaria Einbeigi, Richard Rosenquist, Camilla Gardman, Lennart Iselius, Karin Henriksson, Niklas Loman, Ulf Kristoffersson, Håkan Olsson & O Johansson, 2007, I : Hereditary Cancer in Clinical Practice. 5, 1, s. 17-24

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  35. A large deletion identified in a Swedish family with type 1 VWD

    Anna M. Johansson, Elsa Lanke, Torbjörn Säll, Stefan Lethagen & Christer Halldén, 2011, I : Thrombosis and Haemostasis. 105, 4, s. 733-734

    Forskningsoutput: TidskriftsbidragLetter

  36. Alterations of the fragile histidine triad gene, FHIT, and its encoded products contribute to testicular germ cell tumorigenesis

    SM Kraggerud, Pierre Åman, R Holm, AE Stenwig, SD Fossa, JM Nesland & RA Lothe, 2002, I : Cancer Research. 62, 2, s. 512-517

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  37. Altered expression of TGFB receptors and mitogenic effects of TGFB in pancreatic carcinomas

    Tord Jonson, E Albrechtsson, J Axelson, Markus Heidenblad, Ludmila Gorunova, Bertil Johansson & Mattias Höglund, 2001, I : International Journal of Oncology. 19, 1, s. 71-81

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  38. Alternative lengthening of telomeres-An enhanced chromosomal instability in aggressive non-MYCN amplified and telomere elongated neuroblastomas.

    Gisela Lundberg, Daniel Sehic, John-Kalle Länsberg, Ingrid Øra, Attila Frigyesi, Victoria Castel, Samuel Navarro, Marta Piqueras, Tommy Martinsson, Rosa Noguera & David Gisselsson Nord, 2011, I : Genes, Chromosomes and Cancer. 50, 4, s. 250-262

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  39. A model for karyotypic evolution in testicular germ cell tumors.

    Attila Frigyesi, David Gisselsson Nord, Gunnar B Hansen, Maria Soller, Felix Mitelman & Mattias Höglund, 2004, I : Genes, Chromosomes and Cancer. 40, 3, s. 172-178

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  40. Amplification and overexpression of Aurora kinase A (AURKA) in immortalized human ovarian epithelial (HOSE) cells

    C M Chung, C Man, Y Jin, Charlotte Jin, X Y Guan, Q Wang, T S K Wan, A L M Cheung & S W Tsao, 2005, I : Molecular Carcinogenesis. 43, 3, s. 165-174

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  41. Amplification of 12q13 and 12q15 sequences in a sclerosing epithelioid fibrosarcoma

    D Gisselsson, P Andreasson, J M Meis-Kindblom, L G Kindblom, F Mertens & N Mandahl, 1998 dec, I : Cancer Genetics and Cytogenetics. 107, 2, s. 102-106 5 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  42. Amplification of chromosome 1 sequences in lipomatous tumors and other sarcomas

    Malin A Nilsson, Leonardo A Meza-Zepeda, Fredrik Mertens, Anne Forus, Ola Myklebost & Nils Mandahl, 2004 apr 10, I : International Journal of Cancer. 109, 3, s. 363-369 7 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  43. Amplification of the G allele at SNP rs6983267 in 8q24 amplicons in myeloid malignancies as cause of the lack of MYC overexpression?

    Lucia Micale, Bartolomeo Augello, Giulia Daniele, Gemma Macchia, Alberto L'Abbate, Dominique Muehlematter, Peter Vandenberghe, Bertil Johansson, Christine Cabrol, Francesc Sole, Nicole Dastugue, Marilyn L. Slovak, Debra Lillington, Sophie Raynaud, Marina Lafage, Elizabeth D. Nacheva, Giuseppe Merla & Clelia T. Storlazzi, 2011, I : Blood Cells, Molecules & Diseases. 47, 4, s. 259-261

    Forskningsoutput: TidskriftsbidragLetter

  44. Amylin inhibits bone resorption while the calcitonin receptor controls bone formation in vivo

    R Dacquin, RA Davey, C Laplace, G Levasseur, HA Morris, SR Goldring, Samuel Gebre-Medhin, DL Galson, JD Zajac & G Karsenty, 2004, I : Journal of Cell Biology. 164, 4, s. 509-514

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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