Hannula-Jouppi K - 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. 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

Genetic susceptibility to acute viral bronchiolitis.

Pasanen A, Karjalainen MK, Korppi M, Hallman M, Rämet M; Research Project FinnGen. Pasanen A, et al. J Infect Dis. 2024 Sep 20:jiae467. doi: 10.1093/infdis/jiae467. Online ahead of print. J Infect Dis. 2024. PMID: 39299705

3

Major Genetic Risk Factors for Dupuytren's Disease Are Inherited From Neandertals.

Ågren R, Patil S, Zhou X; FinnGen.; Sahlholm K, Pääbo S, Zeberg H. Ågren R, et al. Mol Biol Evol. 2023 Jun 1;40(6):msad130. doi: 10.1093/molbev/msad130. Mol Biol Evol. 2023. PMID: 37315093 Free PMC article.

4

A genome scan for developmental dyslexia confirms linkage to chromosome 2p11 and suggests a new locus on 7q32.

Kaminen N, Hannula-Jouppi K, Kestilä M, Lahermo P, Muller K, Kaaranen M, Myllyluoma B, Voutilainen A, Lyytinen H, Nopola-Hemmi J, Kere J. Kaminen N, et al. J Med Genet. 2003 May;40(5):340-5. doi: 10.1136/jmg.40.5.340. J Med Genet. 2003. PMID: 12746395 Free PMC article.

5

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. 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.

6

Submicroscopic genomic alterations in Silver-Russell syndrome and Silver-Russell-like patients.

Bruce S, Hannula-Jouppi K, Puoskari M, Fransson I, Simola KO, Lipsanen-Nyman M, Kere J. Bruce S, et al. J Med Genet. 2010 Dec;47(12):816-22. doi: 10.1136/jmg.2009.069427. Epub 2009 Sep 14. J Med Genet. 2010. PMID: 19752157

7

Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia.

Sandbacka M, Bruce S, Halttunen M, Puhakka M, Lahermo P, Hannula-Jouppi K, Lipsanen-Nyman M, Kere J, Aittomäki K, Laivuori H. Sandbacka M, et al. Fertil Steril. 2011 Jun 30;95(8):2703-6. doi: 10.1016/j.fertnstert.2011.03.019. Epub 2011 Apr 2. Fertil Steril. 2011. PMID: 21458801 Free article.

8

Differentially methylated regions in maternal and paternal uniparental disomy for chromosome 7.

Hannula-Jouppi K, Muurinen M, Lipsanen-Nyman M, Reinius LE, Ezer S, Greco D, Kere J. Hannula-Jouppi K, et al. Epigenetics. 2014 Mar;9(3):351-65. doi: 10.4161/epi.27160. Epub 2013 Nov 18. Epigenetics. 2014. PMID: 24247273 Free PMC article.

9

Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children.

Muurinen M, Hannula-Jouppi K, Reinius LE, Söderhäll C, Merid SK, Bergström A, Melén E, Pershagen G, Lipsanen-Nyman M, Greco D, Kere J. Muurinen M, et al. Sci Rep. 2017 Nov 16;7(1):15693. doi: 10.1038/s41598-017-16070-5. Sci Rep. 2017. PMID: 29146936 Free PMC article.

10

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease.

Ruotsalainen SE, Partanen JJ, Cichonska A, Lin J, Benner C, Surakka I; FinnGen; Reeve MP, Palta P, Salmi M, Jalkanen S, Ahola-Olli A, Palotie A, Salomaa V, Daly MJ, Pirinen M, Ripatti S, Koskela J. Ruotsalainen SE, et al. Eur J Hum Genet. 2021 Feb;29(2):309-324. doi: 10.1038/s41431-020-00730-8. Epub 2020 Oct 27. Eur J Hum Genet. 2021. PMID: 33110245 Free PMC article.

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