Avdelningen för klinisk genetik

Organisation: avdelning

Fler filtreringsmöjligheter
  1. 2020
  2. Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke

    Andreea Ilinca, Nicolas Martinez-Majander, Sofie Samuelsson, Paul Piccinelli, Katarina Truvé, John Cole, Steven Kittner, Maria Soller, Ulf Kristoffersson, Turgut Tatlisumak, Andreas Puschmann, Jukka Putaala & Arne Lindgren, 2020, I : Stroke. 51, 4, s. 1056-1063 8 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  3. Why classical cytogenetics still matters in acute myeloid leukemia

    Vladimir Lazarevic & Bertil Johansson, 2020, I : Expert Review of Hematology. 13, 2, s. 95-97 3 s.

    Forskningsoutput: TidskriftsbidragDebate/Note/Editorial

  4. 2019
  5. Att inte debattera är inte ett alternativ

    Karin Broberg, Ingrid Dunér, Kristofer Hansson, Mats Hansson, Johan Jakobsson, Marcus Järås, Ulf Kristoffersson, Hindrik Mulder, Ana Nordberg, Anna Tunlid, Niklas Vareman & Karin E Wahlberg, 2019 dec 8, Svenska Dagbladet, Stockholm.

    Forskningsoutput: Bidrag till övrig tidskrift/dags- eller nyhetstidningDagstidnings-/nyhetsartikel

  6. Vi måste ta ställning till den nya gentekniken

    Karin Broberg, Ingrid Dunér, Kristofer Hansson, Mats Hansson, Johan Jakobsson, Marcus Järås, Ulf Kristoffersson, Hindrik Mulder, Ana Nordberg, Anna Tunlid, Niklas Vareman & Karin E Wahlberg, 2019 nov 24, Svenska Dagbladet, Stockholm 1 s.

    Forskningsoutput: Bidrag till övrig tidskrift/dags- eller nyhetstidningDagstidnings-/nyhetsartikel

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

    Hiroaki Yasui, Hiroaki Kajiyama, Satoshi Tamauchi, Shiro Suzuki, Yang Peng, Nobuhisa Yoshikawa, Mai Sugiyama, Kae Nakamura & Fumitaka Kikkawa, 2019 sep 21, I : Clinical and Experimental Metastasis.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  8. Most gene fusions in cancer are stochastic events

    Bertil Johansson, Fredrik Mertens, Tommy Schyman, Jonas Björk, Nils Mandahl & Felix Mitelman, 2019 sep, I : Genes Chromosomes and Cancer. 58, 9, s. 607-611 5 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  9. PAX5 is part of a functional transcription factor network targeted in lymphoid leukemia

    Kazuki Okuyama, Tobias Strid, Jacob Kuruvilla, Rajesh Somasundaram, Susana Cristobal, Emma Smith, Mahadesh Prasad, Thoas Fioretos, Henrik Lilljebjörn, Shamit Soneji, Stefan Lang, Jonas Ungerbäck & Mikael Sigvardsson, 2019 aug 1, I : PLoS Genetics. 15, 8, e1008280.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  10. 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, Carola Hedberg-Oldfors, Anders Oldfors, Björn Kornhall, Catarina Lundin & Elisabeth Wittström, 2019 jul 2, I : Ophthalmic Genetics. 40, 3, s. 227–236 11 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Giuseppe Piarulli, Florian Puls, Bo Wängberg, Henrik Fagman, Magnus Hansson, Jenny Nilsson, Elsa Arbajian & Fredrik Mertens, 2019 jun, I : Histopathology. 74, 7, s. 1098-1102

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Minjun Yang, Mattias Vesterlund, Ioannis Siavelis, Larissa H. Moura-Castro, Anders Castor, Thoas Fioretos, Rozbeh Jafari, Henrik Lilljebjörn, Duncan T. Odom, Linda Olsson, Naveen Ravi, Eleanor L. Woodward, Louise Harewood, Janne Lehtiö & Kajsa Paulsson, 2019 apr 3, I : Nature Communications. 10, 1, 1519.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Kajsa Paulsson & Ponte di Legno Childhood ALL Working Group Ponte di Legno Childhood ALL Working Group, 2019 apr 1, I : Journal of Clinical Oncology. 37, 10, s. 770-779 10 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  14. 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, Yuesheng Jin, Sabine Swoboda, Fredrik Andersson, Davit Bzhalava, Emilie Hultin, Kajsa Paulsson, Joakim Dillner, Stefan Schwartz, Johan Wennerberg & Lars Ekblad, 2019 mar 25, I : BMC Cancer. 19, 1, 265.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Naveen Ravi, Minjun Yang, Sigurdur Gretarsson, Caroline Jansson, Nektaria Mylona, Saskia R. Sydow, Eleanor L. Woodward, Lars Ekblad, Johan Wennerberg & Kajsa Paulsson, 2019 mar 22, I : Cancers. 11, 3, 402.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Anne Brédart, Jean Luc Kop, Antonis C. Antoniou, Alex P. Cunningham, Antoine de Pauw, Marc Tischkowitz, Hans Ehrencrona, Marjanka K. Schmidt, Sylvie Dolbeault, Kerstin Rhiem, Douglas F. Easton, Peter Devilee, Dominique Stoppa-Lyonnet & Rita Schmutlzer, 2019 jan, I : Journal of Community Genetics. 10, 1, s. 61-71

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    James B. Studd, Minjun Yang, Zhenhua Li, Jayaram Vijayakrishnan, Yi Lu, Allen Eng Juh Yeoh, Kajsa Paulsson & Richard S. Houlston, 2019 jan, I : Leukemia. 33, 1, s. 1-14

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Linda Holmquist Mengelbier, Simon Lindell-Munther, Hiroaki Yasui, Caroline Jansson, Javanshir Esfandyari, Jenny Karlsson, Kimberly Lau, Chi chung Hui, Daniel Bexell, Sevan Hopyan & David Gisselsson, 2019 jan, I : Journal of Pathology. 247, 1

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  19. 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

  20. A stroke gene panel for whole-exome sequencing

    Andreea Ilinca, Sofie Samuelsson, Paul Piccinelli, Maria Soller, Ulf Kristoffersson & Arne G. Lindgren, 2019, I : European Journal of Human Genetics. 27, 2, s. 317-324

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  21. Biallelic germline nonsense variant of MLH3 underlies polyposis predisposition

    Alisa Olkinuora, Taina T. Nieminen, Emma Mårtensson, Anna Rohlin, Ari Ristimäki, Laura Koskenvuo, Anna Lepistö, Samuel Gebre-Medhin, Margareta Nordling, Päivi Peltomäki & Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group Swedish Extended Genetic Analysis of Colorectal Neoplasia (SWEN) Study Group, 2019, I : Genetics in Medicine. 21, 8, s. 1868-1873

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Felix Mitelman, Bertil Johansson, Fredrik Mertens, Tommy Schyman & Nils Mandahl, 2019, I : Genes Chromosomes and Cancer. 58, 3, s. 149-154

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  23. Changes in the Prevalence of Embryologic Remnants in Umbilical Cord With Gestational Age

    Emma Grottling & David Gisselsson, 2019, I : Pediatric and Developmental Pathology. 22, 4, s. 288-291

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    David Gisselsson, Daniel Lichtenzstejn, Polina Kachko, Jenny Karlsson, Esther Manor & Sabine Mai, 2019, I : Genes Chromosomes and Cancer. 58, 7, s. 452-461

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

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

    Axel Hyrenius-Wittsten, Mattias Pilheden, Antoni Falqués-Costa, Mia Eriksson, Helena Sturesson, Pauline Schneider, Priscilla Wander, Cristian Garcia-Ruiz, Jian Liu, Helena Ågerstam, Anne Hultquist, Henrik Lilljebjörn, Ronald W. Stam, Marcus Järås & Anna K. Hagström-Andersson, 2019, I : Leukemia. 33, 9, s. 2310-2314

    Forskningsoutput: TidskriftsbidragLetter

  26. Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA gene

    Nadja Gustavsson, Ana Marote, Yuriy Pomeshchik, Kaspar Russ, Carla Azevedo, Margarita Chumarina, Stefano Goldwurm, Anna Collin, Luisa Pinto, António J. Salgado, Oxana Klementieva, Laurent Roybon & Ekaterina Savchenko, 2019, I : Stem Cell Research. 34, 101373.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  27. Genetic Characterization and Identification of Novel Treatment Targets in Anaplastic Thyroid Carcinoma

    Naveen Ravi, 2019, Lund: Lund University: Faculty of Medicine. 68 s.

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  28. Genetic profiling of a chondroblastoma-like osteosarcoma/malignant phosphaturic mesenchymal tumor of bone reveals a homozygous deletion of CDKN2A, intragenic deletion of DMD, and a targetable FN1-FGFR1 gene fusion

    Karim H Saba, Louise Cornmark, Marianne Rissler, Thoas Fioretos, Kristina Åström, Felix Haglund, Andrew E Rosenberg, Otte Brosjö & Karolin H Nord, 2019, I : Genes, Chromosomes and Cancer. 58, 10, s. 731-736

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragÖversiktsartikel

  30. Hereditary colorectal cancer diagnostics in southern Sweden: retrospective evaluation and future considerations with emphasis on Lynch syndrome

    Isabelle Henriksson, Karin Henriksson, Hans Ehrencrona & Samuel Gebre-Medhin, 2019, I : Journal of Community Genetics. 10, 2, s. 259-266

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  32. Immune effector monocyte–neutrophil cooperation induced by the primary tumor prevents metastatic progression of breast cancer

    Catharina Hagerling, Hugo Gonzalez, Kiarash Salari, Chih Yang Wang, Charlene Lin, Isabella Robles, Merel van Gogh, Annika Dejmek, Karin Jirström & Zena Werb, 2019, I : Proceedings of the National Academy of Sciences of the United States of America. 116, 43, s. 21704-21714 11 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Lidia Feliubadaló, Cora M Aalfs, Simona Agata, Kristiina Aittomäki, Elisa Alducci, María Concepción Alonso-Cerezo, Norbert Arnold, Bernd Auber, Rachel Austin, Jacopo Azzollini, Judith Balmaña, Elena Barbieri, Claus R Bartram, Ana Blanco, Britta Blümcke & 31 andra, Sandra Bonache, Bernardo Bonanni, Åke Borg, Beatrice Bortesi, Joan Brunet, Carla Bruzzone, Karolin Bucksch, Giulia Cagnoli, Trinidad Caldés, Almuth Caliebe, Maria A Caligo, Mariarosaria Calvello, Gabriele L Capone, Sandrine M Caputo, Ileana Carnevali, Estela Carrasco, Virginie Caux-Moncoutier, Pietro Cavalli, Giulia Cini, Edward M Clarke, Paola Concolino, Elisa J Cops, Laura Cortesi, Fergus J Couch, Esther Darder, Miguel de la Hoya, Michael Dean, Hans Ehrencrona, Anders Kvist, Therese Törngren & KConFab Investigators KConFab Investigators, 2019, I : Human Mutation. s. 1557-1578

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  34. Massively Parallel Sequencing of Gene Fusion-Associated Sarcomas

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

    Forskningsoutput: AvhandlingDoktorsavhandling (sammanläggning)

  35. 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

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

    Florian Puls, Nischalan Pillay, Henrik Fagman, Anne Palin-Masreliez, Fernanda Amary, Magnus Hansson, Lars Gunnar Kindblom, Tom A. McCulloch, George Meligonis, Ronald Muc, Pehr Rissler, Vaiyapuri P. Sumathi, Roberto Tirabosco, Jakob Hofvander, Linda Magnusson, Jenny Nilsson, Adrienne M. Flanagan & Fredrik Mertens, 2019, I : American Journal of Surgical Pathology. 43, 4, s. 504-513

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  37. Recombinant dermatan sulfate is a potent activator of heparin cofactor II-dependent inhibition of thrombin

    Emil Tykesson, Marco Maccarana, Hanna Thorsson, Jian Liu, Anders Malmström, Ulf Ellervik & Gunilla Westergren-Thorsson, 2019, I : Glycobiology. 29, 6, s. 446-451

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  39. Undifferentiated pleomorphic sarcomas with PRDM10 fusions have a distinct gene expression profile

    Jakob Hofvander, Florian Puls, Nischalan Pillay, Christopher D. Steele, Adrienne M. Flanagan, Linda Magnusson, Jenny Nilsson & Fredrik Mertens, 2019, I : Journal of Pathology. 249, 4, s. 425-434

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  40. Whole-genome sequencing of triple-negative breast cancers in a population-based clinical study

    Johan Staaf, Dominik Glodzik, Ana Bosch, Johan Vallon-Christersson, Christel Reuterswärd, Jari Häkkinen, Andrea Degasperi, Tauanne Dias Amarante, Lao H Saal, Cecilia Hegardt, Hilary Stobart, Anna Ehinger, Christer Larsson, Lisa Rydén, Niklas Loman, Martin Malmberg, Anders Kvist, Hans Ehrencrona, Helen R Davies, Åke Borg & 1 andra, Serena Nik-Zainal, 2019, I : Nature Medicine. 25, s. 1526–1533

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

  41. 2018
  42. De novo activating mutations drive clonal evolution and enhance clonal fitness in KMT2A-rearranged leukemia

    Axel Hyrenius-Wittsten, Mattias Pilheden, Helena Sturesson, Jenny Hansson, Michael P. Walsh, Guangchun Song, Julhash U. Kazi, Jian Liu, Ramprasad Ramakrishan, Cristian Garcia-Ruiz, Stephanie Nance, Pankaj Gupta, Jinghui Zhang, Lars Rönnstrand, Anne Hultquist, James R. Downing, Karin Lindkvist-Petersson, Kajsa Paulsson, Marcus Järås, Tanja A. Gruber & 2 andra, Jing Ma & Anna K. Hagström-Andersson, 2018 dec 1, I : Nature Communications. 9, 1, 1770.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Jakob Hofvander, Björn Viklund, Anders Isaksson, Otte Brosjö, Fredrik Vult von Steyern, Pehr Rissler, Nils Mandahl & Fredrik Mertens, 2018 dec 1, I : Nature Communications. 9, 1, 3662.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Kishan Bellamkonda, Shakti Ranjan Satapathy, Desiree Douglas, Naveenkumar Chandrashekar, Benson Chellakkan Selvanesan, Minghui Liu, Sayeh Savari, Gunilla Jonsson & Anita Sjölander, 2018 nov 28, I : Cancer Letters. 437, s. 13-24 12 s.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Anders Valind, Sandra Wessman, Niklas Pal, Jenny Karlsson, Tord Jonson, Bengt Sandstedt & David Gisselsson, 2018 nov 1, I : Pediatric Blood & Cancer. 65, 11, e27301.

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Maren Høland, Matthias Kolberg, Stine Aske Danielsen, Bodil Bjerkehagen, Ina A. Eilertsen, Merete Hektoen, Nils Mandahl, Eva van Den Berg, Sigbjørn Smeland, Fredrik Mertens, Kirsten Sundby Hall, Piero Picci, Anita Sveen & Ragnhild A. Lothe, 2018 nov, I : Modern Pathology. 31, 11, s. 1694-1707

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

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

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

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

    Rick Kapur, Michael Kim, Johan Rebetz, Björn Hallström, Jonas T Björkman, Alisa Takabe-French, Noel Kim, Jonathan Liu, Shanjeevan Shanmugabhavananthan, Stefan Milosevic, Mark J McVey, Edwin R Speck & John W Semple, 2018 jul 10, I : Blood Advances. 2, 13, s. 1651-1663

    Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift