Kääriäinen H - Search Results

1

The mutation spectrum in RECQL4 diseases.

Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, Crandall B, Hannula-Jouppi K, Hennekam R, Herzog D, Keymolen K, Lipsanen-Nyman M, Miny P, Plon SE, Riedl S, Sarkar A, Vargas FR, Verloes A, Wang LL, Kääriäinen H, Kestilä M. Siitonen HA, et al. Among authors: kaariainen h. Eur J Hum Genet. 2009 Feb;17(2):151-8. doi: 10.1038/ejhg.2008.154. Epub 2008 Aug 20. Eur J Hum Genet. 2009. PMID: 18716613 Free PMC article.

2

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

3

Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature.

Kääriäinen H, Barrow M, Hennekam R. Kääriäinen H, et al. Am J Med Genet. 1993 Apr 15;46(2):223-7. doi: 10.1002/ajmg.1320460224. Am J Med Genet. 1993. PMID: 8484414 Review.

4

The axon guidance receptor gene ROBO1 is a candidate gene for developmental dyslexia.

Hannula-Jouppi K, Kaminen-Ahola N, Taipale M, Eklund R, Nopola-Hemmi J, Kääriäinen H, Kere J. Hannula-Jouppi K, et al. Among authors: kaariainen h. PLoS Genet. 2005 Oct;1(4):e50. doi: 10.1371/journal.pgen.0010050. Epub 2005 Oct 28. PLoS Genet. 2005. PMID: 16254601 Free PMC article.

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

A European research conference on the inherited disorders and their genes in different European populations.

de la Chapelle A, Harper P, Kääriäinen H, Norio R. de la Chapelle A, et al. Among authors: kaariainen h. Eur J Hum Genet. 1994;2(3):191-2. doi: 10.1159/000472363. Eur J Hum Genet. 1994. PMID: 7834279 No abstract available.

7

Collagen XI sequence variations in nonsyndromic cleft palate, Robin sequence and micrognathia.

Melkoniemi M, Koillinen H, Männikkö M, Warman ML, Pihlajamaa T, Kääriäinen H, Rautio J, Hukki J, Stofko JA, Cisneros GJ, Krakow D, Cohn DH, Kere J, Ala-Kokko L. Melkoniemi M, et al. Among authors: kaariainen h. Eur J Hum Genet. 2003 Mar;11(3):265-70. doi: 10.1038/sj.ejhg.5200950. Eur J Hum Genet. 2003. PMID: 12673280

8

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

9

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.

10

Patenting and licensing in genetic testing: ethical, legal, and social issues.

Soini S, Aymé S, Matthijs G; Public and Professional Policy Committee and Patenting and Licensing Committee. Soini S, et al. Eur J Hum Genet. 2008 May;16 Suppl 1:S10-50. Eur J Hum Genet. 2008. PMID: 18557182 No abstract available.

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