Avdelningen för klinisk genetik
Organisation: avdelning
- 2015
Multiple mechanisms of MYCN dysregulation in Wilms tumour.
Richard D Williams, Tasnim Chagtai, Marisa Alcaide-German, John Apps, Jenny Wegert, Sergey Popov, Gordan Vujanic, Harm van Tinteren, Marry M van den Heuvel-Eibrink, Marcel Kool, Jan de Kraker, David Gisselsson Nord, Norbert Graf, Manfred Gessler & Kathy Pritchard-Jones, 2015, I : Oncotarget. 6, 9, s. 7232-7243Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Neuroblastoma Patient-Derived Orthotopic Xenografts Retain Metastatic Patterns and Geno- and Phenotypes of Patient Tumours.
Noémie Braekeveldt, Caroline Wigerup, David Gisselsson Nord, Sofie Mohlin, My Merselius, Siv Beckman, Tord Jonson, Anna Börjesson, Torbjörn Backman, Irene Tadeo, Ana P Berbegall, Ingrid Øra, Samuel Navarro, Rosa Noguera, Sven Påhlman & Daniel Bexell, 2015, I : International Journal of Cancer. 136, 5, s. E252-E261Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome.
Matthieu J Schlögel, Antonella Mendola, Elodie Fastré, Pradeep Vasudevan, Koen Devriendt, Thomy Jl de Ravel, Hilde Van Esch, Ingele Casteels, Ignacio Arroyo Carrera, Francesca Cristofoli, Karen Fieggen, Katheryn Jones, Mark Lipson, Irina Balikova, Ami Singer, Maria Soller, María Mercedes Villanueva, Nicole Revencu, Laurence M Boon, Pascal Brouillard & 1 andra, , 2015, I : Orphanet Journal of Rare Diseases. 10, 1, 52.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Non-fibrosing sclerosing epithelioid fibrosarcoma: An unusual variant.
Florian Puls, Linda Magnusson, Angela Niblett, Hassan Douis, David Peake, Philippe Taniere, Lars-Gunnar Kindblom & Fredrik Mertens, 2015, I : Histopathology.Forskningsoutput: Tidskriftsbidrag › Letter
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Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.
Wybo Dondorp, Guido de Wert, Yvonne Bombard, Diana W Bianchi, Carsten Bergmann, Pascal Borry, Lyn S Chitty, Florence Fellmann, Francesca Forzano, Alison Hall, Lidewij Henneman, Heidi C Howard, Anneke Lucassen, Kelly Ormond, Borut Peterlin, Dragica Radojkovic, Wolf Rogowski, Maria Soller, Aad Tibben, Lisbeth Tranebjærg & 2 andra, , 2015, I : European Journal of Human Genetics. 23, 11, s. 1438-1450Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations.
Wybo Dondorp, Guido de Wert, Yvonne Bombard, Diana W Bianchi, Carsten Bergmann, Pascal Borry, Lyn S Chitty, Florence Fellmann, Francesca Forzano, Alison Hall, Lidewij Henneman, Heidi C Howard, Anneke Lucassen, Kelly Ormond, Borut Peterlin, Dragica Radojkovic, Wolf Rogowski, Maria Soller, Aad Tibben, Lisbeth Tranebjærg & 2 andra, , 2015, I : European Journal of Human Genetics.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Nonrandom chromosome abnormalities in cancer: An overview
Sverre Heim & Felix Mitelman, 2015, Cancer Cytogenetics: Chromosomal and Molecular Genetic Aberrations of Tumor Cells. Heim, S. & Mitelman, F. (red.). 4th uppl. Wiley-Blackwell, s. 26-41 16 s.Forskningsoutput: Kapitel i bok/rapport/Conference proceeding › Kapitel samlingsverk
Novel gene targets detected by genomic profiling in a consecutive series of 126 adults with acute lymphoblastic leukemia
Setareh Safavi, Markus Hansson, Karin Karlsson, Andrea Biloglav, Bertil Johansson & Kajsa Paulsson, 2015, I : Haematologica. 100, 1, s. 55-61Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Pharmacologically relevant doses of valproate upregulate CD20 expression in three diffuse large B-cell lymphoma patients in vivo.
Jesper Kofoed Damm, Sandra Gordon, Mats Ehinger, Mats Jerkeman, Urban Gullberg, Anne Hultquist & Kristina Drott, 2015, I : Experimental hematology & oncology. 4, 4Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.
Franziska Severin, Pascal Borry, Martina C Cornel, Norman Daniels, Florence Fellmann, Shirley Victoria Hodgson, Heidi C Howard, Jürgen John, Helena Kääriäinen, Hülya Kayserili, Alastair Kent, Florian Koerber, Ulf Kristoffersson, Mark Kroese, Celine Lewis, Georg Marckmann, Peter Meyer, Arne Pfeufer, Jörg Schmidtke, Heather Skirton & 2 andra, , 2015, I : European Journal of Human Genetics. 23, 6, s. 729-735Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Preface to the Fourth Edition
Sverre Heim & Felix Mitelman, 2015, Cancer Cytogenetics: Chromosomal and Molecular Genetic Aberrations of Tumor Cells. Heim, S. & Mitelman, F. (red.). 4th uppl. Wiley-Blackwell, s. ixForskningsoutput: Kapitel i bok/rapport/Conference proceeding › För-/efterord
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Prognostic significance of high hyperdiploid and tri-/tetraploid adult acute myeloid leukemia.
Vladimir Lazarevic, Aldana Rosso, Gunnar Juliusson, Petar Antunovic, Åsa Rangert-Derolf, Sören Lehmann, Lars Möllgård, Bertil Uggla, Lovisa Wennström, Anders Wahlin, Martin Höglund & Bertil Johansson, 2015, I : American Journal of Hematology. 90, 9, s. 800-805Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Protein expression of BIRC5, TK1, and TOP2A in malignant peripheral nerve sheath tumours - A prognostic test after surgical resection.
Matthias Kolberg, Maren Høland, Guro E Lind, Trude H Ågesen, Rolf I Skotheim, Kirsten Sundby Hall, Nils Mandahl, Sigbjørn Smeland, Fredrik Mertens, Ben Davidson & Ragnhild A Lothe, 2015, I : Molecular Oncology. 9, 6, s. 1129-1139Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Recurrent PRDM10 Gene Fusions in Undifferentiated Pleomorphic Sarcoma.
Jakob Hofvander, Johnbosco Tayebwa, Jenny Nilsson, Linda Magnusson, Otte Brosjö, Olle L Larsson, Fredrik Vult von Steyern, Nils Mandahl, Christopher Fletcher & Fredrik Mertens, 2015, I : Clinical Cancer Research. 21, 4, s. 864-869Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Ring chromosomes, breakpoint clusters, and neocentromeres in sarcomas.
Gemma Macchia, Karolin Hansén Nord, Monica Zoli, Stefania Purgato, Pietro D'Addabbo, Christopher W Whelan, Lucia Carbone, Giovanni Perini, Fredrik Mertens, Mariano Rocchi & Clelia Tiziana Storlazzi, 2015, I : Genes, Chromosomes and Cancer. 54, 3, s. 156-167Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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RNA sequencing of sarcomas with simple karyotypes: identification and enrichment of fusion transcripts.
Jakob Hofvander, Johnbosco Tayebwa, Jenny Nilsson, Linda Magnusson, Otte Brosjö, Olle Larsson, Fredrik Vult von Steyern, Henryk Domanski, Nils Mandahl & Fredrik Mertens, 2015, I : Laboratory Investigation. 95, 6, s. 603-609Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Soft tissue tumors
Nils Mandahl & Fredrik Mertens, 2015, Cancer Cytogenetics: Chromosomal and Molecular Genetic Aberrations of Tumor Cells. Heim, S. & Mitelman, F. (red.). 4th uppl. Wiley-Blackwell, s. 583-614 32 s.Forskningsoutput: Kapitel i bok/rapport/Conference proceeding › Kapitel samlingsverk
The clinical impact of IKZF1 deletions in paediatric B-cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1992 and 2013.
Linda Olsson, Ingegerd Ivanov Öfverholm, Ulrika Norén-Nyström, Vasilios Zachariadis, Jessica Nordlund, Helene Sjögren, Irina Golovleva, Ann Nordgren, Kajsa Paulsson, Mats Heyman, Gisela Barbany & Bertil Johansson, 2015, I : British Journal of Haematology. 170, 6, s. 847-858Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
The DEK oncoprotein and its emerging roles in gene regulation.
Carl Sandén & Urban Gullberg, 2015, I : Leukemia. 29, 8, s. 1632-1636Forskningsoutput: Tidskriftsbidrag › Översiktsartikel
The genomic landscape of high hyperdiploid childhood acute lymphoblastic leukemia.
Kajsa Paulsson, Henrik Lilljebjörn, Andrea Biloglav, Linda Olsson, Marianne Rissler, Anders Castor, Gisela Barbany, Linda Fogelstrand, Ann Nordgren, Helene Sjögren, Thoas Fioretos & Bertil Johansson, 2015, I : Nature Genetics. 47, 6, s. 672-676Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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The gynecological surveillance of women with Lynch syndrome in Sweden.
Gerasimos Tzortzatos, Emil Andersson, Maria Soller, Marie Stenmark Askmalm, Theofanis Zagoras, Patrik Georgii-Hemming, Annika Lindblom, Emma Tham & Miriam Mints, 2015, I : Gynecologic Oncology. 138, 3, s. 717-722Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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The landscape of somatic mutations in infant MLL-rearranged acute lymphoblastic leukemias.
Anna Andersson, Jing Ma, Jianmin Wang, Xiang Chen, Amanda Larson Gedman, Jinjun Dang, Joy Nakitandwe, Linda Holmfeldt, Matthew Parker, John Easton, Robert Huether, Richard Kriwacki, Michael Rusch, Gang Wu, Yongjin Li, Heather Mulder, Susana Raimondi, Stanley Pounds, Guolian Kang, Lei Shi & 30 andra, , 2015, I : Nature Genetics. 47, 4, s. 330-U192Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Tumors of bone
Fredrik Mertens & Nils Mandahl, 2015, Cancer Cytogenetics: Chromosomal and Molecular Genetic Aberrations of Tumor Cells. Heim, S. & Mitelman, F. (red.). 4th uppl. Wiley-Blackwell, s. 566-582 17 s.Forskningsoutput: Kapitel i bok/rapport/Conference proceeding › Kapitel samlingsverk
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Tumors of endocrine glands
Jörn Bullerdiek & David Gisselsson, 2015, Cancer Cytogenetics: Chromosomal and Molecular Genetic Aberrations of Tumor Cells. Heim, S. & Mitelman, F. (red.). 4th uppl. Wiley-Blackwell, s. 497-514 18 s.Forskningsoutput: Kapitel i bok/rapport/Conference proceeding › Kapitel samlingsverk
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Tumors of the skin
Fredrik Mertens, Felix Mitelman & Sverre Heim, 2015, Cancer Cytogenetics: Chromosomal and Molecular Genetic Aberrations of Tumor Cells. Heim, S. & Mitelman, F. (red.). 4th uppl. Wiley-Blackwell, s. 555-565 11 s.Forskningsoutput: Kapitel i bok/rapport/Conference proceeding › Kapitel samlingsverk
- 2014
Associations of common breast cancer susceptibility alleles with risk of breast cancer subtypes in BRCA1 and BRCA2 mutation carriers
Karoline B Kuchenbaecker, Niklas Loman, Åke Borg, Hans Ehrencrona, Antonis C. Antoniou, Håkan Olsson, Helena Jernström, Karin Henriksson, Katja Harbst, Maria Soller, Ulf Kristoffersson & EMBRACE Study EMBRACE Study, 2014 dec 31, I : Breast Cancer Research. 16, 6, s. 1-27 3416.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Comprehensive genetic characterization of pediatric T-cell acute lymphoblastic leukemia
Kristina Karrman, Anders Castor, Mikael Behrendtz, Erik Forestier, Linda Olsson, Mats Ehinger, Andrea Biloglav, Thoas Fioretos, Kajsa Paulsson & Bertil Johansson, 2014 dec 6, I : Blood. 124, 21, s. 1084Forskningsoutput: Tidskriftsbidrag › Publicerat konferensabstract
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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: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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. 15-19Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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A novel SERPINE1-FOSB fusion gene results in transcriptional up-regulation of FOSB in pseudomyogenic haemangioendothelioma.
Charles Walther, Johnbosco Tayebwa, Henrik Lilljebjörn, Linda Magnusson, Jenny Nilsson, Fredrik Vult von Steyern, Ingrid Øra, Henryk Domanski, Thoas Fioretos, Karolin Hansén Nord, Christopher Dm Fletcher & Fredrik Mertens, 2014, I : Journal of Pathology. 232, 5, s. 534-540Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.
EMIL YGLAND, Franco Taroni, Cinzia Gellera, Serena Caldarazzo, Morten Duno, Maria Soller & Andreas Puschmann, 2014, I : Parkinsonism & Related Disorders. 20, 8, s. 919-923Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?
Klas Wictorin, Björn Brådvik, Karin Nilsson, Maria Soller, Danielle van Westen, Gunnel Bynke, Peter Bauer, Ludger Schöls & Andreas Puschmann, 2014, I : Parkinsonism & Related Disorders. 20, 7, s. 748-754Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Clear cell sarcoma of the kidney demonstrates an embryonic signature indicative of a primitive nephrogenic origin.
Jenny Karlsson, Linda Holmquist Mengelbier, Cristina Ciornei, Arlene Naranjo, Maureen J O'Sullivan & David Gisselsson Nord, 2014, I : Genes, Chromosomes and Cancer. 53, 5, s. 381-391Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries
Catarina Lundin, Erik Forestier, Mette Klarskov Andersen, Kirsi Autio, Gisela Barbany, Lucia Cavelier, Irina Golovleva, Sverre Heim, Kristiina Heinonen, Randi Hovland, Johann H. Johannsson, Eigil Kjeldsen, Ann Nordgren, Lars Palmqvist & Bertil Johansson, 2014, I : Journal of Hematology & Oncology. 7, 32.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Confined trisomy 8 mosaicism of meiotic origin: A rare cause of aneuploidy in childhood cancer.
Anders Valind, Niklas Pal, Jurate Asmundsson, David Gisselsson Nord & Linda Holmquist Mengelbier, 2014, I : Genes, Chromosomes and Cancer. 53, 7, s. 634-638Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Constitutional and somatic deletions of the Williams-Beuren syndrome critical region in Non-Hodgkin Lymphoma
David Guenat, Samuel Quentin, Carmelo Rizzari, Catarina Lundin, Tiziana Coliva, Patrick Edery, Helen Fryssira, Laurent Bermont, Christophe Ferrand, Jean Soulier, Christophe Borg & Pierre-Simon Rohrlich, 2014, I : Journal of Hematology & Oncology. 7, 82.Forskningsoutput: Tidskriftsbidrag › Letter
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Csnk1a1 inhibition has p53-dependent therapeutic efficacy in acute myeloid leukemia
Marcus Järås, Peter G. Miller, Lisa P. Chu, Rishi V. Puram, Emma C. Fink, Rebekka K. Schneider, Fatima Al-Shahrour, Pablo Peña, L. Jordan Breyfogle, Kimberly A. Hartwell, Marie E. McConkey, Glenn S. Cowley, David E. Root, Michael G. Kharas, Ann Mullally & Benjamin L. Ebert, 2014, I : Journal of Experimental Medicine. 211, 4, s. 605-612Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Deletions of IKZF1 and SPRED1 are associated with poor prognosis in a population-based series of pediatric B-cell precursor acute lymphoblastic leukemia diagnosed between 1992 and 2011.
Linda Olsson, Anders Castor, M Behrendtz, Andrea Biloglav, E Forestier, Kajsa Paulsson & Bertil Johansson, 2014, I : Leukemia. 28, 2, s. 302-310Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Detecting dic(9;20)(p13.2;p11.2)-positive B-cell precursor acute lymphoblastic leukemia in a clinical setting using fluorescence in situ hybridization
V. Zachariadis, J. Schoumans, I. Ofverholm, G. Barbany, E. Halvardsson, E. Forestier, Bertil Johansson, M. Nordenskjold & A. Nordgren, 2014, I : Leukemia. 28, 1, s. 196-198Forskningsoutput: Tidskriftsbidrag › Letter
DNA Glycosylases Involved in Base Excision Repair May Be Associated with Cancer Risk in BRCA1 and BRCA2 Mutation Carriers.
Ana Osorio, Roger L Milne, Karoline Kuchenbaecker, Tereza Vaclová, Guillermo Pita, Rosario Alonso, Paolo Peterlongo, Ignacio Blanco, Miguel de la Hoya, Mercedes Duran, Orland Díez, Teresa Ramón Y Cajal, Irene Konstantopoulou, Cristina Martínez-Bouzas, Raquel Andrés Conejero, Penny Soucy, Lesley McGuffog, Daniel Barrowdale, Andrew Lee, Swe-Brca Swe-Brca & 180 andra, , 2014, I : PLoS Genetics. 10, 4, e1004256.Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Evaluation of CITED1, SIX1, and CD56 Protein Expression for Identification of Blastemal Elements in Wilms Tumor.
Daniel Sehic, Cristina Ciornei & David Gisselsson Nord, 2014, I : American Journal of Clinical Pathology. 141, 6, s. 828-833Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Evolving techniques for gene fusion detection in soft tissue tumours.
Fredrik Mertens & Johnbosco Tayebwa, 2014, I : Histopathology. 64, 1, s. 151-162Forskningsoutput: Tidskriftsbidrag › Översiktsartikel
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Exomic analysis of myxoid liposarcomas, synovial sarcomas, and osteosarcomas
Christine G. Joseph, Heejung Hwang, Yuchen Jiao, Laura D. Wood, Isaac Kinde, Jian Wu, Nils Mandahl, Jinyong Luo, Ralph H. Hruban, Luis A. Diaz Jr, Tong-Chuan He, Bert Vogelstein, Kenneth W. Kinzler, Fredrik Mertens & Nickolas Papadopoulos, 2014, I : Genes, Chromosomes and Cancer. 53, 1, s. 15-24Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Feasibility of targeted next-generation sequencing of the TP53 and ATM genes in chronic lymphocytic leukemia
L. Mansouri, L-A Sutton, V. Ljungstrom, E. F. Sorqvist, Rebeqa Gunnarsson, K. E. Smedby, Gunnar Juliusson, K. Stamatopoulos, M. Nilsson & R. Rosenquist, 2014, I : Leukemia. 28, 3, s. 694-696Forskningsoutput: Tidskriftsbidrag › Letter
Functional implications of the p.Cys680Arg mutation in the MLH1 mismatch repair protein.
Mev Dominguez, Mark Drost, Christina Therkildsen, Eva Rambech, Hans Ehrencrona, Maria Angleys, Thomas Lau Hansen, Niels de Wind, Mef Nilbert & Lene Juel Rasmussen, 2014, I : Molecular Genetics & Genomic Medicine. 2, 4, s. 352-355Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
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Fusions involving protein kinase C and membrane-associated proteins in benign fibrous histiocytoma.
Anna Płaszczyca, Jenny Nilsson, Linda Magnusson, Otte Brosjö, Olle Larsson, Fredrik Vult von Steyern, Henryk Domanski, Henrik Lilljebjörn, Thoas Fioretos, Johnbosco Tayebwa, Nils Mandahl, Karolin Hansén Nord & Fredrik Mertens, 2014, I : International Journal of Biochemistry & Cell Biology. 53, Apr 8, s. 475-481Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift
Genetic Characterization of Pediatric T-cell Acute Lymphoblastic Leukemia
Kristina Karrman, 2014, Division of Clinical Genetics, Lund University. 84 s.Forskningsoutput: Avhandling › Doktorsavhandling (sammanläggning)
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GRIA2 is a novel diagnostic marker for solitary fibrous tumour identified through gene expression profiling
Marina Vivero, Leona A. Doyle, Christopher D. M. Fletcher, Fredrik Mertens & Jason L. Hornick, 2014, I : Histopathology. 65, 1, s. 71-80Forskningsoutput: Tidskriftsbidrag › Artikel i vetenskaplig tidskrift