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X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes.
Philips AK, Sirén A, Avela K, Somer M, Peippo M, Ahvenainen M, Doagu F, Arvio M, Kääriäinen H, Van Esch H, Froyen G, Haas SA, Hu H, Kalscheuer VM, Järvelä I. Philips AK, et al. Among authors: kaariainen h. Orphanet J Rare Dis. 2014 Apr 11;9:49. doi: 10.1186/1750-1172-9-49. Orphanet J Rare Dis. 2014. PMID: 24721225 Free PMC article.
The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B.
Zweier M, Peippo MM, Pöyhönen M, Kääriäinen H, Begemann A, Joset P, Oneda B, Rauch A. Zweier M, et al. Among authors: kaariainen h. Am J Med Genet A. 2017 May;173(5):1440-1443. doi: 10.1002/ajmg.a.38143. Epub 2017 Mar 21. Am J Med Genet A. 2017. PMID: 28323383 Free PMC article. No abstract available.
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.
Large genomic rearrangements and germline epimutations in Lynch syndrome.
Gylling A, Ridanpää M, Vierimaa O, Aittomäki K, Avela K, Kääriäinen H, Laivuori H, Pöyhönen M, Sallinen SL, Wallgren-Pettersson C, Järvinen HJ, Mecklin JP, Peltomäki P. Gylling A, et al. Among authors: kaariainen h. Int J Cancer. 2009 May 15;124(10):2333-40. doi: 10.1002/ijc.24230. Int J Cancer. 2009. PMID: 19173287
169 results