Division of Clinical Genetics

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2018
Mark 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, Ana ^LU ; Pomeshchik, Yuriy ^LU ; Goldwurm, Stefano ; Collin, Anna ^LU ; Lamas, Nuno J. ^LU ; Pinto, Luísa ; Salgado, António J. and Roybon, Laurent ^LU (2018) In Stem Cell Research 27. p.90-94
- Contribution to journal › Article
Mark Microenvironmental control of breast cancer subtype elicited through paracrine platelet-derived growth factor-CC signaling
Roswall, Pernilla ; Bocci, Matteo ^LU ; Bartoschek, Michael ^LU ; Li, Hong ; Kristiansen, Glen ; Jansson, Sara ^LU ; Lehn, Sophie ^LU ; Sjölund, Jonas ^LU ; Reid, Steven ^LU and Larsson, Christer ^LU , et al. (2018) In Nature Medicine 24. p.463-473
- Contribution to journal › Article
Mark Interleukin 4 induces apoptosis of acute myeloid leukemia cells in a Stat6 dependent manner
Peña, Pablo ^LU ; Eriksson, Mia ^LU ; Ramakrishnan, R ^LU ; Chapellier, M ^LU ; Högberg, Carl ^LU ; Orsmark-Pietras, C ^LU ; Richter, J ^LU ; Andersson, Anna ^LU ; Fioretos, T ^LU and Järås, M ^LU (2018) In Leukemia 32(3). p.588-596
- Contribution to journal › Article
Mark The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant : Breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
Moghadasi, Setareh ; Meeks, Huong D. ; Vreeswijk, Maaike P G ; Janssen, Linda A.M. ; Borg, Åke ^LU ; Ehrencrona, Hans ^LU ; Paulsson-Karlsson, Ylva ; Wappenschmidt, Barbara ; Engel, Christoph and Gehrig, Andrea , et al. (2018) In Journal of Medical Genetics 55(1). p.15-20
- Contribution to journal › Article
Mark Use of the BOADICEA Web Application in clinical practice : appraisals by clinicians from various countries
Brédart, Anne ; Kop, Jean Luc ; Antoniou, Antonis C. ; Cunningham, Alex P. ; de Pauw, Antoine ; Tischkowitz, Marc ; Ehrencrona, Hans ^LU ; Dolbeault, Sylvie ; Robieux, Léonore and Rhiem, Kerstin , et al. (2018) In Familial Cancer 17(1). p.31-41
- Contribution to journal › Article
2017
Mark Increased proportion of mature NK cells is associated with successful imatinib discontinuation in chronic myeloid leukemia
Ilander, M. ; Olsson-Strömberg, U. ; Schlums, H. ; Guilhot, J. ; Brück, O. ; Lähteenmäki, H. ; Kasanen, T. ; Koskenvesa, P. ; Söderlund, S. and Höglund, M. ^LU , et al. (2017) In Leukemia 31(5). p.1108-1116
- Contribution to journal › Article
Mark Evaluation of polygenic risk scores for breast and ovarian cancer risk prediction in BRCA1 and BRCA2 mutation carriers
Kuchenbaecker, Karoline B. ; McGuffog, Lesley ; Barrowdale, Daniel ; Lee, Andrew ; Soucy, Penny ; Dennis, Joe ; Domchek, Susan M. ; Robson, Mark ; Spurdle, Amanda B. and Ramus, Susan J. , et al. (2017) In Journal of the National Cancer Institute 109(7).
- Contribution to journal › Article
Mark Somatic Genetic Variation in Children: from Mosaicism to Cancer
Valind, Anders ^LU (2017)
- Thesis › Doctoral thesis (compilation)
Mark Genetic anticipation in Swedish Lynch syndrome families
von Salomé, Jenny ; Boonstra, Philip S. ; Karimi, Masoud ; Silander, Gustav ; Stenmark-Askmalm, Marie ^LU ; Gebre-Medhin, Samuel ^LU ; Aravidis, Christos ; Nilbert, Mef ^LU ; Lindblom, Annika and Lagerstedt-Robinson, Kristina (2017) In PLoS Genetics 13(10).
- Contribution to journal › Article
Mark From Mendel to Medical Genetics
Kristoffersson, Ulf ^LU and Macek, Milan (2017) In European Journal of Human Genetics 25(s2). p.53-59
- Contribution to journal › Scientific review

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