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Irma Järvelä
Researcher at University of Helsinki
Publications - 181
Citations - 9125
Irma Järvelä is an academic researcher from University of Helsinki. The author has contributed to research in topics: Population & Lactase. The author has an hindex of 50, co-authored 180 publications receiving 8657 citations. Previous affiliations of Irma Järvelä include University College London & Helsinki University Central Hospital.
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Identification of a DNA variant associated with adult type hypolactasia
TL;DR: In this paper, a nucleic acid molecule comprising a 5′ portion of an intestinal lactase-phlorizine hydrolase (LPH) gene contributing to or indicative of the adult-type hypolactasia was identified.
Journal ArticleDOI
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,Catalina Betancur,Guillaume Huguet,Marina Konyukh,Pauline Chaste,Elodie Ey,Maria Råstam,Henrik Anckarsäter,Gudrun Nygren,I. Carina Gillberg,Jonas Melke,Roberto Toro,Béatrice Regnault,Fabien Fauchereau,Oriane Mercati,Nathalie Lemière,David Skuse,Martin Poot,Richard Holt,Anthony P. Monaco,Irma Järvelä,Katri Kantojärvi,Raija Vanhala,Sarah Curran,David A. Collier,Patrick Bolton,Andreas G. Chiocchetti,Sabine M. Klauck,Fritz Poustka,Christine M. Freitag,Regina Waltes,Marnie Kopp,Eftichia Duketis,Elena Bacchelli,Fiorella Minopoli,Liliana Ruta,Agatino Battaglia,Luigi Mazzone,Elena Maestrini,Ana Filipa Sequeira,Bárbara Oliveira,Astrid M. Vicente,Guiomar Oliveira,Dalila Pinto,Stephen W. Scherer,Diana Zelenika,Marc Delepine,Mark Lathrop,Dominique Bonneau,Vincent Guinchat,Françoise Devillard,Brigitte Assouline,Marie-Christine Mouren,Marion Leboyer,Christopher Gillberg,Tobias M. Boeckers,Thomas Bourgeron +59 more
TL;DR: The identification of a novel 421 kb de novo SHANK2 deletion in a patient with autism strengthens the role of synaptic gene dysfunction in ASD but also highlights the presence of putative modifier genes, in keeping with the “multiple hit model” for ASD.
Journal ArticleDOI
A Genomewide Screen for Autism-Spectrum Disorders: Evidence for a Major Susceptibility Locus on Chromosome 3q25-27
Mari Auranen,Raija Vanhala,Teppo Varilo,Kristin L. Ayers,Elli Kempas,Tero Ylisaukko-oja,Janet S. Sinsheimer,Janet S. Sinsheimer,Leena Peltonen,Irma Järvelä,Irma Järvelä +10 more
TL;DR: The most significant evidence for linkage was found on chromosome 3q25-27, with a maximum two-point LOD score of 4.31 (Z max dom ) for D3S3037, using infantile autism and Asperger syndrome (AS) as an affection status as discussed by the authors.
Journal ArticleDOI
Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein
Matti Laine,Hanna Jarva,Hanna Jarva,Sanna Seitsonen,Karita Haapasalo,Markus J. Lehtinen,Nina Lindeman,Don H. Anderson,P.T. Johnson,Irma Järvelä,T. Sakari Jokiranta,T. Sakari Jokiranta,Gregory S. Hageman,Ilkka Immonen,Seppo Meri,Seppo Meri +15 more
TL;DR: In this paper, the authors examined the effects of the Y402H polymorphism on various FH functions, including reduced binding to C-reactive protein (CRP), an acute phase protein, and increased inflammation along the macular retinal pigmented epithelium-choroid interface in individuals with age-related macular degeneration.
Journal ArticleDOI
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)
TL;DR: The novel spectrofluorometric assay introduced in this study provides a fast and repeatable technique to measure intralysosomal pH from cell suspensions and is one important factor in explaining accumulation of ceroid and lipofuscin-like autofluorescent lipopigments characteristic of NCLs.