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Page 1
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Hakkarainen M, Kaaja I, Douglas SPM, Vulliamy T, Dokal I, Soulier J, Larcher L, Peffault de Latour R, Leblanc T, Sicre de Fontbrune F, Siitonen T, Lohi O, Hellström-Lindberg E, Barbany G, Tesi B, Shimamura A, Beier F, Jackson S, Kuperman AA, Falik Zaccai T, Tamary H, Mecucci C, Capolsini I, Jahnukainen K, Salmenniemi U, Niinimäki R, Varilo T, Kilpivaara O, Wartiovaara-Kautto U. Hakkarainen M, et al. Among authors: kilpivaara o. Blood. 2023 Jun 8;141(23):2853-2866. doi: 10.1182/blood.2022019425. Blood. 2023. PMID: 36952636
Germline alterations in a consecutive series of acute myeloid leukemia.
Wartiovaara-Kautto U, Hirvonen EAM, Pitkänen E, Heckman C, Saarela J, Kettunen K, Porkka K, Kilpivaara O. Wartiovaara-Kautto U, et al. Among authors: kilpivaara o. Leukemia. 2018 Oct;32(10):2282-2285. doi: 10.1038/s41375-018-0049-5. Epub 2018 Apr 10. Leukemia. 2018. PMID: 29632341 No abstract available.
ERCC6L2 defines a novel entity within inherited acute myeloid leukemia.
Douglas SPM, Siipola P, Kovanen PE, Pyörälä M, Kakko S, Savolainen ER, Salmenniemi U, Orte K, Kytölä S, Pitkänen E, Porkka K, Kilpivaara O, Wartiovaara-Kautto U. Douglas SPM, et al. Among authors: kilpivaara o. Blood. 2019 Jun 20;133(25):2724-2728. doi: 10.1182/blood-2019-01-896233. Epub 2019 Apr 1. Blood. 2019. PMID: 30936069 Free article. No abstract available.
Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-up.
Baliakas P, Tesi B, Wartiovaara-Kautto U, Stray-Pedersen A, Friis LS, Dybedal I, Hovland R, Jahnukainen K, Raaschou-Jensen K, Ljungman P, Rustad CF, Lautrup CK, Kilpivaara O, Kittang AO, Grønbæk K, Cammenga J, Hellström-Lindberg E, Andersen MK. Baliakas P, et al. Among authors: kilpivaara o. Hemasphere. 2019 Nov 4;3(6):e321. doi: 10.1097/HS9.0000000000000321. eCollection 2019 Dec. Hemasphere. 2019. PMID: 31976490 Free PMC article.
Familial aggregation of early-onset haematological malignancies.
Rönkkö R, Hirvonen E, Malila N, Kilpivaara O, Wartiovaara-Kautto U, Pitkäniemi J. Rönkkö R, et al. Among authors: kilpivaara o. Br J Haematol. 2021 Jun;193(6):1134-1141. doi: 10.1111/bjh.17477. Epub 2021 May 18. Br J Haematol. 2021. PMID: 34002362
Germline ERCC excision repair 6 like 2 (ERCC6L2) mutations lead to impaired erythropoiesis and reshaping of the bone marrow microenvironment.
Armes H, Bewicke-Copley F, Rio-Machin A, Di Bella D, Philippe C, Wozniak A, Tummala H, Wang J, Ezponda T, Prosper F, Dokal I, Vulliamy T, Kilpivaara O, Wartiovaara-Kautto U, Fitzgibbon J, Rouault-Pierre K. Armes H, et al. Among authors: kilpivaara o. Br J Haematol. 2022 Dec;199(5):754-764. doi: 10.1111/bjh.18466. Epub 2022 Sep 26. Br J Haematol. 2022. PMID: 36156210 Free PMC article.
Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.
Lahtinen AK, Koski J, Ritari J, Hyvärinen K, Koskela S, Partanen J, Vettenranta K, Koskenvuo M, Niittyvuopio R, Salmenniemi U, Itälä-Remes M, Jahnukainen K, Kilpivaara O, Wartiovaara-Kautto U. Lahtinen AK, et al. Among authors: kilpivaara o. Bone Marrow Transplant. 2023 Jan;58(1):39-45. doi: 10.1038/s41409-022-01828-x. Epub 2022 Oct 4. Bone Marrow Transplant. 2023. PMID: 36195768 Free PMC article.
Identification of DHX40 as a candidate susceptibility gene for colorectal and hematological neoplasia.
Olkinuora A, Nieminen TT, Douglas S, Kauppinen A, Kontro M, Väänänen J, Kankainen M, Ristimäki A, Mäkinen M, Lahermo P, Heckman C, Saarela J, Salonen M, Lepistö A, Järvinen H, Mecklin JP, Kilpivaara O, Wartiovaara-Kautto U, Porkka K, Peltomäki P. Olkinuora A, et al. Among authors: kilpivaara o. Leukemia. 2023 Nov;37(11):2301-2305. doi: 10.1038/s41375-023-02021-9. Epub 2023 Sep 11. Leukemia. 2023. PMID: 37696923 Free PMC article. No abstract available.
63 results