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A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.
Lagerstedt-Robinson K, Baranowska Körberg I, Tsiaprazis S, Björck E, Tham E, Poluha A, Hellström Pigg M, Paulsson-Karlsson Y, Nordenskjöld M, Johansson-Soller M, Aravidis C. Lagerstedt-Robinson K, et al. Among authors: bjorck e. PLoS One. 2022 Feb 17;17(2):e0264056. doi: 10.1371/journal.pone.0264056. eCollection 2022. PLoS One. 2022. PMID: 35176117 Free PMC article.
Merged testing for colorectal cancer syndromes and re-evaluation of genetic variants improve diagnostic yield: Results from a nationwide prospective cohort.
Svensson S, Zagoras T, Aravidis C, Askmalm MS, Björck E, Borg Å, Kuchinskaya E, Nilbert M, Nordling M, Rohlin A, Silander G, Lagerstedt-Robinson K, Gebre-Medhin S. Svensson S, et al. Among authors: bjorck e. Genes Chromosomes Cancer. 2022 Oct;61(10):585-591. doi: 10.1002/gcc.23049. Epub 2022 May 2. Genes Chromosomes Cancer. 2022. PMID: 35430768 Free PMC article.
A retrospective study of extracolonic, non-endometrial cancer in Swedish Lynch syndrome families.
Karimi M, von Salomé J, Aravidis C, Silander G, Askmalm MS, Henriksson I, Gebre-Medhin S, Frödin JE, Björck E, Lagerstedt-Robinson K, Lindblom A, Tham E. Karimi M, et al. Among authors: bjorck e. Hered Cancer Clin Pract. 2018 Oct 23;16:16. doi: 10.1186/s13053-018-0098-9. eCollection 2018. Hered Cancer Clin Pract. 2018. PMID: 30386444 Free PMC article.
80 results