Hannula-Jouppi K - Search Results

1

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.

2

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.

3

A candidate gene for developmental dyslexia encodes a nuclear tetratricopeptide repeat domain protein dynamically regulated in brain.

Taipale M, Kaminen N, Nopola-Hemmi J, Haltia T, Myllyluoma B, Lyytinen H, Muller K, Kaaranen M, Lindsberg PJ, Hannula-Jouppi K, Kere J. Taipale M, et al. Proc Natl Acad Sci U S A. 2003 Sep 30;100(20):11553-8. doi: 10.1073/pnas.1833911100. Epub 2003 Sep 3. Proc Natl Acad Sci U S A. 2003. PMID: 12954984 Free PMC article.

4

Global analysis of uniparental disomy using high density genotyping arrays.

Bruce S, Leinonen R, Lindgren CM, Kivinen K, Dahlman-Wright K, Lipsanen-Nyman M, Hannula-Jouppi K, Kere J. Bruce S, et al. J Med Genet. 2005 Nov;42(11):847-51. doi: 10.1136/jmg.2005.032367. Epub 2005 May 6. J Med Genet. 2005. PMID: 15879501 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

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia.

Feuk L, Kalervo A, Lipsanen-Nyman M, Skaug J, Nakabayashi K, Finucane B, Hartung D, Innes M, Kerem B, Nowaczyk MJ, Rivlin J, Roberts W, Senman L, Summers A, Szatmari P, Wong V, Vincent JB, Zeesman S, Osborne LR, Cardy JO, Kere J, Scherer SW, Hannula-Jouppi K. Feuk L, et al. Am J Hum Genet. 2006 Nov;79(5):965-72. doi: 10.1086/508902. Epub 2006 Sep 27. Am J Hum Genet. 2006. PMID: 17033973 Free PMC article.

7

Restriction site-specific methylation studies of imprinted genes with quantitative real-time PCR.

Bruce S, Hannula-Jouppi K, Lindgren CM, Lipsanen-Nyman M, Kere J. Bruce S, et al. Clin Chem. 2008 Mar;54(3):491-9. doi: 10.1373/clinchem.2007.098491. Epub 2008 Jan 17. Clin Chem. 2008. PMID: 18202157 Free article.

8

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.

9

Clinically distinct epigenetic subgroups in Silver-Russell syndrome: the degree of H19 hypomethylation associates with phenotype severity and genital and skeletal anomalies.

Bruce S, Hannula-Jouppi K, Peltonen J, Kere J, Lipsanen-Nyman M. Bruce S, et al. J Clin Endocrinol Metab. 2009 Feb;94(2):579-87. doi: 10.1210/jc.2008-1805. Epub 2008 Nov 18. J Clin Endocrinol Metab. 2009. PMID: 19017756

10

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

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