Kaariainen H - Search Results

1

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.

2

Epidemiology of early-onset Parkinson's disease in Finland.

Ylikotila P, Tiirikka T, Moilanen JS, Kääriäinen H, Marttila R, Majamaa K. Ylikotila P, et al. Among authors: kaariainen h. Parkinsonism Relat Disord. 2015 Aug;21(8):938-42. doi: 10.1016/j.parkreldis.2015.06.003. Epub 2015 Jun 4. Parkinsonism Relat Disord. 2015. PMID: 26071818

3

Molecular studies in Finnish patients with familial juvenile nephronophthisis exclude a founder effect and support a common mutation causing mechanism.

Ala-Mello S, Sankila EM, Koskimies O, de la Chapelle A, Kääriäinen H. Ala-Mello S, et al. Among authors: kaariainen h. J Med Genet. 1998 Apr;35(4):279-83. doi: 10.1136/jmg.35.4.279. J Med Genet. 1998. PMID: 9598719 Free PMC article.

4

Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population.

Laitinen T, Kauppi P, Ignatius J, Ruotsalainen T, Daly MJ, Kääriäinen H, Kruglyak L, Laitinen H, de la Chapelle A, Lander ES, Laitinen LA, Kere J. Laitinen T, et al. Among authors: kaariainen h. Hum Mol Genet. 1997 Nov;6(12):2069-76. doi: 10.1093/hmg/6.12.2069. Hum Mol Genet. 1997. PMID: 9328470

5

Autosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.

Melkoniemi M, Brunner HG, Manouvrier S, Hennekam R, Superti-Furga A, Kääriäinen H, Pauli RM, van Essen T, Warman ML, Bonaventure J, Miny P, Ala-Kokko L. Melkoniemi M, et al. Among authors: kaariainen h. Am J Hum Genet. 2000 Feb;66(2):368-77. doi: 10.1086/302750. Am J Hum Genet. 2000. PMID: 10677296 Free PMC article.

6

Nephronophthisis in Finland: epidemiology and comparison of genetically classified subgroups.

Ala-Mello S, Koskimies O, Rapola J, Kääriäinen H. Ala-Mello S, et al. Among authors: kaariainen h. Eur J Hum Genet. 1999 Feb-Mar;7(2):205-11. doi: 10.1038/sj.ejhg.5200268. Eur J Hum Genet. 1999. PMID: 10196704

7

Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases.

Siitonen HA, Kopra O, Kääriäinen H, Haravuori H, Winter RM, Säämänen AM, Peltonen L, Kestilä M. Siitonen HA, et al. Among authors: kaariainen h. Hum Mol Genet. 2003 Nov 1;12(21):2837-44. doi: 10.1093/hmg/ddg306. Epub 2003 Sep 2. Hum Mol Genet. 2003. PMID: 12952869

8

Polycystic kidney disease in children: a genetic and epidemiological study of 82 Finnish patients.

Kääriäinen H. Kääriäinen H. J Med Genet. 1987 Aug;24(8):474-81. J Med Genet. 1987. PMID: 3656369 Free PMC article.

9

Tibial muscular dystrophy. Late adult-onset distal myopathy in 66 Finnish patients.

Udd B, Partanen J, Halonen P, Falck B, Hakamies L, Heikkilä H, Ingo S, Kalimo H, Kääriäinen H, Laulumaa V, et al. Udd B, et al. Among authors: kaariainen h. Arch Neurol. 1993 Jun;50(6):604-8. doi: 10.1001/archneur.1993.00540060044015. Arch Neurol. 1993. PMID: 8503797

10

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.

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