Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Edit custom filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 1
2005 1
2006 2
2007 3
2008 6
2009 3
2010 3
2011 1
2012 3
2013 10
2014 4
2015 3
2017 2
2018 4
2019 6
2020 1
2021 2
2022 5
2023 6
2024 3
2025 2
2026 3

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

69 results

Results by year

Filters applied: . Clear all
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 Free article.
How to manage patients with germline DDX41 variants: Recommendations from the Nordic working group on germline predisposition for myeloid neoplasms.
Baliakas P, Tesi B, Cammenga J, Stray-Pedersen A, Jahnukainen K, Andersen MK, Ågerstam H, Creignou M, Dybedal I, Raaschou-Jensen K, Grønbæk K, Kilpivaara O, Lindberg EH, Wartiovaara-Kautto U. Baliakas P, et al. Among authors: kilpivaara o. Hemasphere. 2024 Aug 13;8(8):e145. doi: 10.1002/hem3.145. eCollection 2024 Aug. Hemasphere. 2024. PMID: 39139355 Free PMC article.
Truncating NFKB1 variants cause combined NLRP3 inflammasome activation and type I interferon signaling and predispose to necrotizing fasciitis.
Nurmi K, Silventoinen K, Keskitalo S, Rajamäki K, Kouri VP, Kinnunen M, Jalil S, Maldonado R, Wartiovaara K, Nievas EI, Denita-Juárez SP, Duncan CJA, Kuismin O, Saarela J, Romo I, Martelius T, Parantainen J, Beklen A, Bilicka M, Matikainen S, Nordström DC, Kaustio M, Wartiovaara-Kautto U, Kilpivaara O, Klein C, Hauck F, Jahkola T, Hautala T, Varjosalo M, Barreto G, Seppänen MRJ, Eklund KK. Nurmi K, et al. Among authors: kilpivaara o. Cell Rep Med. 2024 Apr 16;5(4):101503. doi: 10.1016/j.xcrm.2024.101503. Epub 2024 Apr 8. Cell Rep Med. 2024. PMID: 38593810 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
Impact of CHEK2 germline variants on haematological malignancy risk and outcomes of allogeneic HSCT.
Lahtinen AK, Karu M, Koski JR, Ritari J, Hyvärinen K, Koskela S, Nihtilä J, 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. Br J Haematol. 2025 Jun 12;207(2):636-41. doi: 10.1111/bjh.20196. Online ahead of print. Br J Haematol. 2025. PMID: 40506802 Free PMC article. No abstract available.
CHEK2 1100delC and colorectal cancer.
Kilpivaara O, Laiho P, Aaltonen LA, Nevanlinna H. Kilpivaara O, et al. J Med Genet. 2003 Oct;40(10):e110. doi: 10.1136/jmg.40.10.e110. J Med Genet. 2003. PMID: 14569133 Free PMC article. No abstract available.
Allogeneic hematopoietic stem cell transplantation in ERCC6L2 disease.
Hakkarainen M, Sicre de Fontbrune F, Kaaja I, Douglas S, Dalle JH, Risitano AM, Kulasekararaj A, Alsultan A, Cutler C, Ho VT, Hellström-Lindberg E, Mielke S, Myhre AE, Rihani R, Shanap MA, Hashem H, Shimamura A, Rowe RG, Auer F, Beier F, Desnica L, Hough R, Ali Jafri SR, Ayas M, Jardine L, Mellid EF, Corrales I, Richardson D, Özbek NY, Zaniewska-Tekieli A, Gozdzik J, Ryhänen S, Niinimäki R, Jahnukainen K, Salmenniemi U, Kilpivaara O, Wartiovaara-Kautto U. Hakkarainen M, et al. Among authors: kilpivaara o. Blood Adv. 2026 Apr 14;10(7):2525-2537. doi: 10.1182/bloodadvances.2025018349. Blood Adv. 2026. PMID: 41628318 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.
Contribution of allelic imbalance to colorectal cancer.
Palin K, Pitkänen E, Turunen M, Sahu B, Pihlajamaa P, Kivioja T, Kaasinen E, Välimäki N, Hänninen UA, Cajuso T, Aavikko M, Tuupanen S, Kilpivaara O, van den Berg L, Kondelin J, Tanskanen T, Katainen R, Grau M, Rauanheimo H, Plaketti RM, Taira A, Sulo P, Hartonen T, Dave K, Schmierer B, Botla S, Sokolova M, Vähärautio A, Gladysz K, Ongen H, Dermitzakis E, Bramsen JB, Ørntoft TF, Andersen CL, Ristimäki A, Lepistö A, Renkonen-Sinisalo L, Mecklin JP, Taipale J, Aaltonen LA. Palin K, et al. Among authors: kilpivaara o. Nat Commun. 2018 Sep 10;9(1):3664. doi: 10.1038/s41467-018-06132-1. Nat Commun. 2018. PMID: 30202008 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.
69 results