about
Linkage and candidate gene studies of autism spectrum disorders in European populationsEvidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humansDetecting signatures of positive selection associated with musical aptitude in the human genomeEvidence for allelic association on chromosome 3q25-27 in families with autism spectrum disorders originating from a subisolate of FinlandIdentification of a variant associated with adult-type hypolactasiaScreening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palateGenome-wide scan for loci of Asperger syndromeVariants in CUL4B are associated with cerebral malformationsIs ASMT a susceptibility gene for autism spectrum disorders? A replication study in European populationsSearch for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish familiesFamily-based association study of DYX1C1 variants in autismLactase persistence, dietary intake of milk, and the risk for prostate cancer in Sweden and FinlandConvergent evidence for the molecular basis of musical traits.The effect of listening to music on human transcriptomeThe effect of music performance on the transcriptome of professional musicians.A genome-wide linkage and association study of musical aptitude identifies loci containing genes related to inner ear development and neurocognitive functionsGenomics approaches to study musical aptitude.Genome-wide linkage scan for loci of musical aptitude in Finnish families: evidence for a major locus at 4q22.Creative Activities in Music--A Genome-Wide Linkage Analysis.Association of the arginine vasopressin receptor 1A (AVPR1A) haplotypes with listening to music.Genome-wide copy number variation analysis in extended families and unrelated individuals characterized for musical aptitude and creativity in music.The genome-wide landscape of copy number variations in the MUSGEN study provides evidence for a founder effect in the isolated Finnish population.Molecularly defined lactose malabsorption, peak bone mass and bone turnover rate in young finnish men.Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration.Four novel mutations in the lactase gene (LCT) underlying congenital lactase deficiency (CLD).Screening of variants for lactase persistence/non-persistence in populations from South Africa and Ghana.X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypesLactase non-persistent genotype influences milk consumption and gastrointestinal symptoms in Northern RussiansLactase persistence genotypes and malaria susceptibility in Fulani of Mali.Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.Lack of complement inhibitors in the outer intracranial artery aneurysm wall associates with complement terminal pathway activation.A biopsy-based quick test in the diagnosis of duodenal hypolactasia in upper gastrointestinal endoscopy.Sequence analysis of the genes encoding for H+/K+-ATPase in autoimmune gastritis.Molecular genetics of human lactase deficiencies.Prenatal diagnosis of congenital nephrotic syndrome (CNF, NPHS1).A genetic test which can be used to diagnose adult-type hypolactasia in children.The C/C-13910 genotype of adult-type hypolactasia is associated with an increased risk of colorectal cancer in the Finnish population.A novel mutation W388X underlying properdin deficiency in a Finnish familyMolecular diagnosis of adult-type hypolactasia (lactase non-persistence).The genetic variant rs4073 A→T of the Interleukin-8 promoter region is associated with the earlier onset of exudative age-related macular degeneration.
P50
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P50
description
hulumtuese
@sq
researcher
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wetenschapper
@nl
հետազոտող
@hy
name
Irma Järvelä
@ast
Irma Järvelä
@en
Irma Järvelä
@es
Irma Järvelä
@nl
Irma Järvelä
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type
label
Irma Järvelä
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Irma Järvelä
@en
Irma Järvelä
@es
Irma Järvelä
@nl
Irma Järvelä
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prefLabel
Irma Järvelä
@ast
Irma Järvelä
@en
Irma Järvelä
@es
Irma Järvelä
@nl
Irma Järvelä
@sl
P106
P21
P31
P496
0000-0002-1770-6187