Järvelä I - Search Results

1

The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population.

Kanduri C, Ukkola-Vuoti L, Oikkonen J, Buck G, Blancher C, Raijas P, Karma K, Lähdesmäki H, Järvelä I. Kanduri C, et al. Among authors: jarvela i. Eur J Hum Genet. 2013 Dec;21(12):1411-6. doi: 10.1038/ejhg.2013.60. Epub 2013 Apr 17. Eur J Hum Genet. 2013. PMID: 23591402 Free PMC article.

2

A single PCR marker in strong allelic association with the infantile form of neuronal ceroid lipofuscinosis facilitates reliable prenatal diagnostics and disease carrier identification.

Vesa J, Hellsten E, Mäkelä TP, Järvelä I, Airaksinen T, Santavuori P, Peltonen L. Vesa J, et al. Among authors: jarvela i. Eur J Hum Genet. 1993;1(2):125-32. doi: 10.1159/000472399. Eur J Hum Genet. 1993. PMID: 7914464

3

The age of human mutation: genealogical and linkage disequilibrium analysis of the CLN5 mutation in the Finnish population.

Varilo T, Savukoski M, Norio R, Santavuori P, Peltonen L, Järvelä I. Varilo T, et al. Among authors: jarvela i. Am J Hum Genet. 1996 Mar;58(3):506-12. Am J Hum Genet. 1996. PMID: 8644710 Free PMC article.

4

Family-based association study of DYX1C1 variants in autism.

Ylisaukko-Oja T, Peyrard-Janvid M, Lindgren CM, Rehnström K, Vanhala R, Peltonen L, Järvelä I, Kere J. Ylisaukko-Oja T, et al. Among authors: jarvela i. Eur J Hum Genet. 2005 Jan;13(1):127-30. doi: 10.1038/sj.ejhg.5201272. Eur J Hum Genet. 2005. PMID: 15470369

5

Analysis of four neuroligin genes as candidates for autism.

Ylisaukko-oja T, Rehnström K, Auranen M, Vanhala R, Alen R, Kempas E, Ellonen P, Turunen JA, Makkonen I, Riikonen R, Nieminen-von Wendt T, von Wendt L, Peltonen L, Järvelä I. Ylisaukko-oja T, et al. Among authors: jarvela i. Eur J Hum Genet. 2005 Dec;13(12):1285-92. doi: 10.1038/sj.ejhg.5201474. Eur J Hum Genet. 2005. PMID: 16077734

6

Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause.

Fellman V, Lemmelä S, Sajantila A, Pihko H, Järvelä I. Fellman V, et al. Among authors: jarvela i. J Hum Genet. 2008;53(6):554-558. doi: 10.1007/s10038-008-0284-0. Epub 2008 Apr 2. J Hum Genet. 2008. PMID: 18386115

7

Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22.

Pulli K, Karma K, Norio R, Sistonen P, Göring HH, Järvelä I. Pulli K, et al. Among authors: jarvela i. J Med Genet. 2008 Jul;45(7):451-6. doi: 10.1136/jmg.2007.056366. Epub 2008 Apr 18. J Med Genet. 2008. PMID: 18424507 Free PMC article.

8

Association of LOXL1 gene with Finnish exfoliation syndrome patients.

Lemmelä S, Forsman E, Onkamo P, Nurmi H, Laivuori H, Kivelä T, Puska P, Heger M, Eriksson A, Forsius H, Järvelä I. Lemmelä S, et al. Among authors: jarvela i. J Hum Genet. 2009 May;54(5):289-97. doi: 10.1038/jhg.2009.28. Epub 2009 Apr 3. J Hum Genet. 2009. PMID: 19343041

9

Musical aptitude is associated with AVPR1A-haplotypes.

Ukkola LT, Onkamo P, Raijas P, Karma K, Järvelä I. Ukkola LT, et al. Among authors: jarvela i. PLoS One. 2009 May 20;4(5):e5534. doi: 10.1371/journal.pone.0005534. PLoS One. 2009. PMID: 19461995 Free PMC article.

10

Linkage and candidate gene studies of autism spectrum disorders in European populations.

Holt R, Barnby G, Maestrini E, Bacchelli E, Brocklebank D, Sousa I, Mulder EJ, Kantojärvi K, Järvelä I, Klauck SM, Poustka F, Bailey AJ, Monaco AP; EU Autism MOLGEN Consortium. Holt R, et al. Among authors: jarvela i. Eur J Hum Genet. 2010 Sep;18(9):1013-9. doi: 10.1038/ejhg.2010.69. Epub 2010 May 5. Eur J Hum Genet. 2010. PMID: 20442744 Free PMC article.

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