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Guideline Application in Real world: multi-Institutional Based survey of Adjuvant and first-Line pancreatic Ductal adenocarcinoma treatment in Italy. Primary analysis of the GARIBALDI survey.
Reni M, Giommoni E, Bergamo F, Milella M, Cavanna L, Di Marco MC, Spada M, Cordio S, Aprile G, Cardellino GG, Maiello E, Bernardini I, Ghidini M, Bozzarelli S, Macchini M, Orsi G, De Simone I, Rulli E, Porcu L, Torri V, Pinto C; GARIBALDI Study Group. Reni M, et al. ESMO Open. 2023 Feb;8(1):100777. doi: 10.1016/j.esmoop.2022.100777. Epub 2023 Feb 1. ESMO Open. 2023. PMID: 36731325 Free PMC article.
Danon disease is an underdiagnosed cause of advanced heart failure in young female patients: a LAMP2 flow cytometric study.
Gurka J, Piherova L, Majer F, Chaloupka A, Zakova D, Pelak O, Krebsova A, Peichl P, Krejci J, Freiberger T, Melenovsky V, Kautzner J, Kalina T, Sikora J, Kubanek M. Gurka J, et al. Among authors: majer f. ESC Heart Fail. 2020 Oct;7(5):2534-2543. doi: 10.1002/ehf2.12823. Epub 2020 Jul 13. ESC Heart Fail. 2020. PMID: 32657043 Free PMC article.
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.
Kousal B, Majer F, Vlaskova H, Dvorakova L, Piherova L, Meliska M, Langrova H, Palecek T, Kubanek M, Krebsova A, Gurka J, Stara V, Michaelides M, Kalina T, Sikora J, Liskova P. Kousal B, et al. Among authors: majer f. Acta Ophthalmol. 2021 Feb;99(1):61-68. doi: 10.1111/aos.14478. Epub 2020 Jun 13. Acta Ophthalmol. 2021. PMID: 32533651 Free article.
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing.
Jedličková I, Přistoupilová A, Nosková L, Majer F, Stránecký V, Hartmannová H, Hodaňová K, Trešlová H, Hýblová M, Solár P, Minárik G, Giertlová M, Kmoch S. Jedličková I, et al. Among authors: majer f. Mol Genet Genomic Med. 2020 Jul;8(7):e1238. doi: 10.1002/mgg3.1238. Epub 2020 Apr 26. Mol Genet Genomic Med. 2020. PMID: 32337852 Free PMC article.
34 results