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Irma Järvelä
Irma Järvelä
clinical teacher, University of Helsinki
Verified email at helsinki.fi
Title
Cited by
Cited by
Year
Identification of a variant associated with adult-type hypolactasia
NS Enattah, T Sahi, E Savilahti, JD Terwilliger, L Peltonen, I Järvelä
Nature genetics 30 (2), 233-237, 2002
12862002
Isolation of a novel gene underlying Batten disease (CLN3)
T Consortium
Cell 82 (6), 949-957, 1995
447*1995
Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
CS Leblond, J Heinrich, R Delorme, C Proepper, C Betancur, G Huguet, ...
PLoS genetics 8 (2), e1002521, 2012
4292012
A genomewide screen for autism-spectrum disorders: evidence for a major susceptibility locus on chromosome 3q25-27
M Auranen, R Vanhala, T Varilo, K Ayers, E Kempas, T Ylisaukko-Oja, ...
The American Journal of Human Genetics 71 (4), 777-790, 2002
2972002
Y402H polymorphism of complement factor H affects binding affinity to C-reactive protein
M Laine, H Jarva, S Seitsonen, K Haapasalo, MJ Lehtinen, N Lindeman, ...
The Journal of Immunology 178 (6), 3831-3836, 2007
2622007
A genetic test which can be used to diagnose adult-type hypolactasia in children
H Rasinperä, E Savilahti, NS Enattah, M Kuokkanen, N Tötterman, ...
Gut 53 (11), 1571-1576, 2004
2502004
Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia
M Kuokkanen, NS Enattah, A Oksanen, E Savilahti, A Orpana, I Järvelä
Gut 52 (5), 647-652, 2003
2422003
Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs)
JM Holopainen, J Saarikoski, PKJ Kinnunen, I Järvelä
European Journal of Biochemistry 268 (22), 5851-5856, 2001
2222001
Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21–23
JD Sharp, RB Wheeler, BD Lake, M Savukoski, IE Järvelä, L Peltonen, ...
Human molecular genetics 6 (4), 591-595, 1997
2181997
Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
I Järvelä, M Sainio, T Rantamäki, VM Olkkonen, O Carpén, L Peltonen, ...
Human molecular genetics 7 (1), 85-90, 1998
2171998
Evidence of still-ongoing convergence evolution of the lactase persistence T-13910 alleles in humans
NS Enattah, A Trudeau, V Pimenoff, L Maiuri, S Auricchio, L Greco, ...
The american journal of human genetics 81 (3), 615-625, 2007
2012007
Search for autism loci by combined analysis of Autism Genetic Resource Exchange and Finnish families
T Ylisaukko‐oja, M Alarcón, RM Cantor, M Auranen, R Vanhala, ...
Annals of neurology 59 (1), 145-155, 2006
1882006
Musical aptitude is associated with AVPR1A-haplotypes
LT Ukkola, P Onkamo, P Raijas, K Karma, I Järvelä
PLoS One 4 (5), e5534, 2009
1842009
Analysis of four neuroligin genes as candidates for autism
T Ylisaukko-oja, K Rehnström, M Auranen, R Vanhala, R Alen, E Kempas, ...
European Journal of Human Genetics 13 (12), 1285-1292, 2005
1742005
Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway
K Luiro, K Yliannala, L Ahtiainen, H Maunu, I Järvelä, A Kyttälä, A Jalanko
Human molecular genetics 13 (23), 3017-3027, 2004
1742004
A heterogeneity-based genome search meta-analysis for autism-spectrum disorders
TA Trikalinos, A Karvouni, E Zintzaras, T Ylisaukko-oja, L Peltonen, ...
Molecular psychiatry 11 (1), 29-36, 2006
1602006
Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1
I Järvelä, J Schleutker, L Haataja, P Santavuori, L Puhakka, T Manninen, ...
Genomics 9 (1), 170-173, 1991
1541991
Mutations in the translated region of the lactase gene (LCT) underlie congenital lactase deficiency
M Kuokkanen, J Kokkonen, NS Enattah, T Ylisaukko-Oja, H Komu, ...
The American Journal of Human Genetics 78 (2), 339-344, 2006
1322006
Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses.
M Savukoski, M Kestilä, R Williams, I Järvelä, J Sharp, J Harris, ...
American journal of human genetics 55 (4), 695, 1994
1261994
Isolation of a novel gene underlying Batten disease, CLN3
TJ Lerner, RMN Boustany, JW Anderson, KL D'Arigo, K Schlumpf, ...
Cell 82 (6), 949-957, 1995
1211995
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