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Characterization of ATM mutations in 41 Nordic families with ataxia telangiectasia.
Laake K, Jansen L, Hahnemann JM, Brondum-Nielsen K, Lönnqvist T, Kääriäinen H, Sankila R, Lähdesmäki A, Hammarström L, Yuen J, Tretli S, Heiberg A, Olsen JH, Tucker M, Kleinerman R, Børresen-Dale AL. Laake K, et al. Among authors: kaariainen h. Hum Mutat. 2000 Sep;16(3):232-46. doi: 10.1002/1098-1004(200009)16:3<232::AID-HUMU6>3.0.CO;2-L. Hum Mutat. 2000. PMID: 10980530
Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries.
Olsen JH, Hahnemann JM, Børresen-Dale AL, Brøndum-Nielsen K, Hammarström L, Kleinerman R, Kääriäinen H, Lönnqvist T, Sankila R, Seersholm N, Tretli S, Yuen J, Boice JD Jr, Tucker M. Olsen JH, et al. Among authors: kaariainen h. J Natl Cancer Inst. 2001 Jan 17;93(2):121-7. doi: 10.1093/jnci/93.2.121. J Natl Cancer Inst. 2001. PMID: 11208881
ATM mutations in Finnish breast cancer patients.
Allinen M, Launonen V, Laake K, Jansen L, Huusko P, Kääriäinen H, Børresen-Dale AL, Winqvist R. Allinen M, et al. Among authors: kaariainen h. J Med Genet. 2002 Mar;39(3):192-6. doi: 10.1136/jmg.39.3.192. J Med Genet. 2002. PMID: 11897822 Free PMC article. No abstract available.
Spectrum of COL4A5 mutations in Finnish Alport syndrome patients.
Martin P, Heiskari N, Pajari H, Grönhagen-Riska C, Kääriäinen H, Koskimies O, Tryggvason K. Martin P, et al. Among authors: kaariainen h. Hum Mutat. 2000 Jun;15(6):579. doi: 10.1002/1098-1004(200006)15:6<579::AID-HUMU13>3.0.CO;2-K. Hum Mutat. 2000. PMID: 10862091
Evaluation of the role of Finnish ataxia-telangiectasia mutations in hereditary predisposition to breast cancer.
Pylkäs K, Tommiska J, Syrjäkoski K, Kere J, Gatei M, Waddell N, Allinen M, Karppinen SM, Rapakko K, Kääriäinen H, Aittomäki K, Blomqvist C, Mustonen A, Holli K, Khanna KK, Kallioniemi OP, Nevanlinna H, Winqvist R. Pylkäs K, et al. Among authors: kaariainen h. Carcinogenesis. 2007 May;28(5):1040-5. doi: 10.1093/carcin/bgl237. Epub 2006 Dec 13. Carcinogenesis. 2007. PMID: 17166884
Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A. Hakonen AH, et al. Among authors: kaariainen h. Am J Hum Genet. 2005 Sep;77(3):430-41. doi: 10.1086/444548. Epub 2005 Jul 27. Am J Hum Genet. 2005. PMID: 16080118 Free PMC article.
Gene deletions in X-linked muscular dystrophy.
Lindlöf M, Kiuru A, Kääriäinen H, Kalimo H, Lang H, Pihko H, Rapola J, Somer H, Somer M, Savontaus ML, et al. Lindlöf M, et al. Among authors: kaariainen h. Am J Hum Genet. 1989 Apr;44(4):496-503. Am J Hum Genet. 1989. PMID: 2929594 Free PMC article.
168 results