Susanna Lemmelä

Summary

Affiliation: University of Helsinki
Country: Finland

Publications

  1. ncbi request reprint Genome-wide scan of exfoliation syndrome
    Susanna Lemmelä
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Invest Ophthalmol Vis Sci 48:4136-42. 2007
  2. doi request reprint Association of LOXL1 gene with Finnish exfoliation syndrome patients
    Susanna Lemmelä
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    J Hum Genet 54:289-97. 2009
  3. ncbi request reprint Exclusion of 14 candidate loci for primary open angle glaucoma in Finnish families
    Susanna Lemmelä
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Mol Vis 10:260-4. 2004
  4. ncbi request reprint Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma
    Päivi Puska
    Department of Ophthalmology, University of Helsinki, Haarmaninkatu 4C, 00290 Helsinki, Finland
    Ophthalmic Genet 26:17-23. 2005
  5. ncbi request reprint The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study
    Eva Forsman
    Population Genetics Unit, Folkhalsan Institute of Genetics, Helsinki, Finland
    Mol Vis 9:217-22. 2003
  6. doi request reprint Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause
    Vineta Fellman
    Hospital for Children and Adolescents, Helsinki University Central Hospital, POB 281, 00029 Helsinki, Finland
    J Hum Genet 53:554-8. 2008
  7. ncbi request reprint Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population
    Sanna Seitsonen
    Department of Ophthalmology, University of Helsinki, Helsinki, Finland
    Mol Vis 12:796-801. 2006

Detail Information

Publications7

  1. ncbi request reprint Genome-wide scan of exfoliation syndrome
    Susanna Lemmelä
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Invest Ophthalmol Vis Sci 48:4136-42. 2007
    ..The purpose of the present study was to identify the genetic basis of XFS in a large Finnish family...
  2. doi request reprint Association of LOXL1 gene with Finnish exfoliation syndrome patients
    Susanna Lemmelä
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    J Hum Genet 54:289-97. 2009
    ..9, P=1.6 x 10(-16)). In conclusion, the earlier reported polymorphisms of the LOXL1 gene showed significant association also in the Finnish population...
  3. ncbi request reprint Exclusion of 14 candidate loci for primary open angle glaucoma in Finnish families
    Susanna Lemmelä
    Department of Medical Genetics, University of Helsinki, Helsinki, Finland
    Mol Vis 10:260-4. 2004
    ..In addition, we analysed loci for the MYOC gene on 1q23-24 and the OPTN gene on 10p14-15...
  4. ncbi request reprint Penetrance and phenotype of the Thr377Met Myocilin mutation in a large Finnish family with juvenile- and adult-onset primary open-angle glaucoma
    Päivi Puska
    Department of Ophthalmology, University of Helsinki, Haarmaninkatu 4C, 00290 Helsinki, Finland
    Ophthalmic Genet 26:17-23. 2005
    ..To study the role of myocilin (MYOC) as a susceptibility gene for juvenile- and adult-onset open-angle glaucoma (JOAG and POAG, respectively)...
  5. ncbi request reprint The role of TIGR and OPTN in Finnish glaucoma families: a clinical and molecular genetic study
    Eva Forsman
    Population Genetics Unit, Folkhalsan Institute of Genetics, Helsinki, Finland
    Mol Vis 9:217-22. 2003
    ....
  6. doi request reprint Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause
    Vineta Fellman
    Hospital for Children and Adolescents, Helsinki University Central Hospital, POB 281, 00029 Helsinki, Finland
    J Hum Genet 53:554-8. 2008
    ..Thus, the novel clinical implication of this study is to screen for BCS1L mutations only if CIII is dysfunctioning or lacking Rieske protein, and to assess 232A-->G mutation in cases with GRACILE syndrome...
  7. ncbi request reprint Analysis of variants in the complement factor H, the elongation of very long chain fatty acids-like 4 and the hemicentin 1 genes of age-related macular degeneration in the Finnish population
    Sanna Seitsonen
    Department of Ophthalmology, University of Helsinki, Helsinki, Finland
    Mol Vis 12:796-801. 2006
    ..We wanted to investigate whether the polymorphisms of the CFH and the ELOVL4 genes or the mutation of the HMCN1 gene are associated with AMD in patients originating from the Finnish population with characteristics of a genetic isolate...