I Jarvela

Summary

Affiliation: National Public Health Institute
Country: Finland

Publications

  1. ncbi Prenatally detected paternal uniparental chromosome 13 isodisomy
    I Jarvela
    Department of Obstetrics and Gynaecology, Helsinki University Hospital, Finland
    Prenat Diagn 18:1169-73. 1998
  2. ncbi Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
    I Jarvela
    National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland
    Hum Mol Genet 7:85-90. 1998
  3. pmc Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene
    I Jarvela
    Department of Human Molecular Genetics, National Public Health Institute, Finland
    Am J Hum Genet 63:1078-85. 1998
  4. ncbi Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
    I Jarvela
    National Public Health Institute, Laboratory of Human Molecular Genetics, Helsinki, Finland
    Hum Mol Genet 8:1091-8. 1999
  5. ncbi Genetically defined adult-type hypolactasia and self-reported lactose intolerance as risk factors of osteoporosis in Finnish postmenopausal women
    N Enattah
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Eur J Clin Nutr 59:1105-11. 2005
  6. ncbi Genome-wide scan for loci of Asperger syndrome
    T Ylisaukko-oja
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, PO Box 104, 00251 Helsinki, Finland
    Mol Psychiatry 9:161-8. 2004
  7. ncbi Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families
    M Auranen
    Department of Human Molecular Genetics, National Public Health Institute, Mannerheimintie 166, FIN 00300, Helsinki, Finland
    Mol Psychiatry 5:320-2. 2000
  8. ncbi Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)
    V Holmberg
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki
    Neurology 55:579-81. 2000
  9. ncbi Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22
    T Klockars
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, 00300, Finland
    Genomics 35:71-8. 1996
  10. ncbi MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features
    M Auranen
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland
    Neurology 56:611-7. 2001

Collaborators

Detail Information

Publications20

  1. ncbi Prenatally detected paternal uniparental chromosome 13 isodisomy
    I Jarvela
    Department of Obstetrics and Gynaecology, Helsinki University Hospital, Finland
    Prenat Diagn 18:1169-73. 1998
    ..According to the cytogenetic and molecular studies, the origin of the isochromosome 13 could be a transverse centromere cleavage at the paternal meiosis II or at an early mitosis...
  2. ncbi Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease
    I Jarvela
    National Public Health Institute, Department of Human Molecular Genetics, Mannerheimintie 166, 00300 Helsinki, Finland
    Hum Mol Genet 7:85-90. 1998
    ..Confocal immunofluorescence microscopy revealed that the CLN3 protein is localized to the lysosomal compartment. These results provide evidence that Batten disease can be classified as a member of lysosomal diseases...
  3. pmc Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene
    I Jarvela
    Department of Human Molecular Genetics, National Public Health Institute, Finland
    Am J Hum Genet 63:1078-85. 1998
    ..Surprisingly, the LPH gene was shown to lie outside the critical CLD region, excluding it as a causative gene for CLD. The LPH locus was found to reside >2 Mb from the critical CLD region...
  4. ncbi Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL)
    I Jarvela
    National Public Health Institute, Laboratory of Human Molecular Genetics, Helsinki, Finland
    Hum Mol Genet 8:1091-8. 1999
    ..The data presented here provide clear evidence for a cellular distinction between classical and atypical forms of Batten disease both in neural and non-neural cells...
  5. ncbi Genetically defined adult-type hypolactasia and self-reported lactose intolerance as risk factors of osteoporosis in Finnish postmenopausal women
    N Enattah
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Eur J Clin Nutr 59:1105-11. 2005
    ..To study the relationships of molecularly defined lactose malabsorption (LM) and self-reported lactose intolerance (LI) to bone mineral density (BMD) and fractures among Finnish postmenopausal women...
  6. ncbi Genome-wide scan for loci of Asperger syndrome
    T Ylisaukko-oja
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, PO Box 104, 00251 Helsinki, Finland
    Mol Psychiatry 9:161-8. 2004
    ..The present study is the first genome-wide screen in AS and therefore replication data sets are needed to evaluate further the significance of the AS-loci identified here...
  7. ncbi Analysis of autism susceptibility gene loci on chromosomes 1p, 4p, 6q, 7q, 13q, 15q, 16p, 17q, 19q and 22q in Finnish multiplex families
    M Auranen
    Department of Human Molecular Genetics, National Public Health Institute, Mannerheimintie 166, FIN 00300, Helsinki, Finland
    Mol Psychiatry 5:320-2. 2000
    ..Our data suggest that additional gene loci exist for autism which will be detectable in and even restricted to the isolated Finnish population...
  8. ncbi Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5)
    V Holmberg
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki
    Neurology 55:579-81. 2000
    ..Thus, it seems likely that each mutation severely disturbs the normal function of the CLN5 protein...
  9. ncbi Efficient construction of a physical map by fiber-FISH of the CLN5 region: refined assignment and long-range contig covering the critical region on 13q22
    T Klockars
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, 00300, Finland
    Genomics 35:71-8. 1996
    ..Here we report a complete physical map of about 350 kb covering the critical chromosomal region of CLN5, which will facilitate the final isolation of the CLN5 gene...
  10. ncbi MECP2 gene analysis in classical Rett syndrome and in patients with Rett-like features
    M Auranen
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland
    Neurology 56:611-7. 2001
    ..To discuss the diagnostic criteria for Rett syndrome based on mutational screening of the methyl-CpG-binding protein 2 gene ( MECP2 ) in patients with classic Rett syndrome and patients with Rett-like features...
  11. ncbi Evidence for allelic association on chromosome 3q25-27 in families with autism spectrum disorders originating from a subisolate of Finland
    M Auranen
    Department of Molecular Medicine, National Public Health Institute, Helsinki, Finland
    Mol Psychiatry 8:879-84. 2003
    ..In contrast, no clear evidence for association on AUTS1 locus was obtained. The wide interval showing association, in particular, on chromosome 3q suggests a locus for autism spectrum of disorders on this chromosomal region...
  12. ncbi The genetic variant of lactase persistence C (-13910) T as a risk factor for type I and II diabetes in the Finnish population
    N S Enattah
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Eur J Clin Nutr 58:1319-22. 2004
    ..Here we have studied the relationship between C (13910) T polymorphism and diabetes in the Finnish population...
  13. ncbi Molecularly defined lactose malabsorption, peak bone mass and bone turnover rate in young finnish men
    N Enattah
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Calcif Tissue Int 75:488-93. 2004
    ..Moreover, the C/C-13910 genotype does not seem to be a risk factor for stress fractures in army recruits...
  14. ncbi Further evidence for linkage of autosomal-dominant medullary cystic kidney disease on chromosome 1q21
    M Auranen
    Department of Molecular Medicine, National Public Health Institute, Biomedicum, Helsinki, Finland
    Kidney Int 60:1225-32. 2001
    ..Genetic linkage has been shown either on chromosome 1q21 (ADMCKD1) or 16p12 (ADMCKD2), and families exist who are not linked to the aforementioned loci. No disease-causing gene underlying this disorder has been reported...
  15. pmc Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses
    M Savukoski
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland
    Am J Hum Genet 55:695-701. 1994
    ..The linkage disequilibrium was crucial for locus assignment in our highly limited family material, and the data exemplify the significance of this phenomenon in the random mapping of rare human diseases...
  16. pmc Rapid diagnostic test for the major mutation underlying Batten disease
    I Jarvela
    National Public Health Institute, Department of Human Molecular Genetics, Helsinki, Finland
    J Med Genet 33:1041-2. 1996
    ..02 kb deletion which is responsible for 81% of affected chromosomes in Batten disease worldwide. In Finland, 90% of Batten chromosomes carry the major deletion owing to the enrichment of the CLN3 gene in the isolated Finnish population...
  17. ncbi Interstitial deletion of bands 11q21-->22.3 in a three-year-old girl defined using fluorescence in situ hybridization on metaphase chromosomes
    N Horelli-Kuitunen
    Department of Clinical Chemistry and Biomedicine of Helsinki University, Helsinki, Finland
    Am J Med Genet 86:416-9. 1999
    ..Our study shows that a molecular cytogenetic approach is useful in defining the specific location and the extent of an interstitial deletion in cytogenetically difficult areas such as 11q...
  18. ncbi Refined assignment of the infantile neuronal ceroid lipofuscinosis (INCL, CLN1) locus at 1p32: incorporation of linkage disequilibrium in multipoint analysis
    E Hellsten
    Department of Human Molecular Genetics, National Public Health Institute, Helsinki, Finland
    Genomics 16:720-5. 1993
    ..We incorporated this observed linkage disequilibrium into multipoint linkage analysis, which significantly increased the informativeness of the limited family material and facilitated refined assignment of the CLN1 locus...
  19. ncbi A biopsy-based quick test in the diagnosis of duodenal hypolactasia in upper gastrointestinal endoscopy
    M Kuokkanen
    Department of Molecular Genetics, University of Helsinki, National Public Health Institute, Biomedicum Helsinki, Finland
    Endoscopy 38:708-12. 2006
    ....
  20. ncbi Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate
    A M Koivisto
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Clin Genet 72:145-9. 2007
    ..The mutation was not present in 200 anonymous blood donors (approximately 300 X-chromosomes). To our knowledge, F279S is the third mutation of the PHF8 gene identified so far...