Irma Järvelä mainly focuses on Genetics, Autism, Gene, Locus and Developmental disorder. Haplotype, Linkage disequilibrium, Allele, Phenotype and Genotype are the core of her Genetics study. Her Autism study combines topics in areas such as Genome, Copy-number variation, Chromosomal region and Genome Scan.
Irma Järvelä interconnects Molecular biology and Autism spectrum disorder in the investigation of issues within Gene. Her study explores the link between Locus and topics such as Gene mapping that cross with problems in Genetic marker, Genetic linkage, SNP, Gene mutation and Allele frequency. Her research in Developmental disorder tackles topics such as Candidate gene which are related to areas like Causes of autism.
Her primary areas of investigation include Genetics, Gene, Genotype, Internal medicine and Lactase. Her work is dedicated to discovering how Genetics, Autism are connected with Candidate gene and Chromosomal region and other disciplines. Her Gene research is multidisciplinary, incorporating perspectives in Disease and Bioinformatics.
The concepts of her Genotype study are interwoven with issues in Physiology and Macular degeneration. The various areas that Irma Järvelä examines in her Internal medicine study include Gastroenterology and Endocrinology. Her study in Lactase is interdisciplinary in nature, drawing from both Lactase persistence, Single-nucleotide polymorphism and Lactose intolerance.
Genetics, Candidate gene, Gene, Aptitude and Exome sequencing are her primary areas of study. Her work is connected to Founder effect, Copy-number variation, Allele, Missense mutation and Genetic heterogeneity, as a part of Genetics. In her research on the topic of Allele, Autism, Microsatellite, Transcription factor, Haplotype and Odds ratio is strongly related with Genetic association.
Irma Järvelä interconnects Computational biology, Peripheral blood and Pathology in the investigation of issues within Gene. Her study on Aptitude also encompasses disciplines like
The scientist’s investigation covers issues in Genetics, Candidate gene, Cognition, Aptitude and Sound perception. Irma Järvelä conducted interdisciplinary study in her works that combined Genetics and Music psychology. Her research in Candidate gene focuses on subjects like Copy-number variation, which are connected to Structural variation, DISC1 and Genetic architecture.
Her work carried out in the field of Cognition brings together such families of science as Quantitative trait locus, Computational biology and Sensory system. Her research in Sound perception intersects with topics in Neurocognitive and Zebra finch. Her Genetic linkage study deals with Phenotype intersecting with Single-nucleotide polymorphism.
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Identification of a DNA variant associated with adult type hypolactasia
Leena Peltonen;Nabil Enattah;Irma Jarvela;Timo Sahi.
Nature Genetics (2004)
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
Claire S. Leblond;Jutta Heinrich;Richard Delorme;Christian Proepper.
PLOS Genetics (2012)
A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27
Mari Auranen;Raija Vanhala;Teppo Varilo;Kristin Ayers.
American Journal of Human Genetics (2002)
Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein
Matti Laine;Hanna Jarva;Hanna Jarva;Sanna Seitsonen;Karita Haapasalo.
Journal of Immunology (2007)
A genetic test which can be used to diagnose adult-type hypolactasia in children
Rasinperä H;Savilahti E;Enattah Ns;Kuokkanen M.
Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia
M Kuokkanen;N S Enattah;A Oksanen;E Savilahti.
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation
Guido Froyen;Mark Corbett;Joke Vandewalle;Irma Jarvela;Irma Jarvela.
American Journal of Human Genetics (2008)
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)
Juha M. Holopainen;Juhani Saarikoski;Paavo K. J. Kinnunen;Irma Järvelä.
FEBS Journal (2001)
Biosynthesis and Intracellular Targeting of the CLN3 Protein Defective in Batten Disease
Irma Järvelä;Markku Sainio;Terhi Rantamäki;Vesa M. Olkkonen.
Human Molecular Genetics (1998)
Loci for Classical and a Variant Late Infantile Neuronal Ceroid Lipofuscinosis Map to Chromosomes 11p15 and 15q21–23
J. D. Sharp;R. B. Wheeler;B. D. Lake;M. Savukoski.
Human Molecular Genetics (1997)
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