Eva Lena Stattin

Summary

Country: Sweden

Publications

  1. doi request reprint Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature
    E L Stattin
    Department of Medical Biosciences, Medical and Clinical Genetics, Umea University, Sweden
    Osteoarthritis Cartilage 16:890-6. 2008
  2. pmc Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing
    Eva Lena Stattin
    Department of Medical Biosciences, Medical and Clinical Genetics, Umea University, Umea, Sweden
    BMC Cardiovasc Disord 12:95. 2012
  3. doi request reprint Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene
    Eva Lena Stattin
    Department of Medical Biosciences, Medical and Clinical Genetics, Umea University, Umea, Sweden
    Eur J Med Genet 52:297-302. 2009
  4. doi request reprint Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden
    Annika Winbo
    Division of Pediatrics, Department of Clinical Sciences, Pediatrics, Umea University, 90185 Umea, Sweden
    Europace 14:1799-806. 2012
  5. doi request reprint Origin of the Swedish long QT syndrome Y111C/KCNQ1 founder mutation
    Annika Winbo
    Department of Clinical Sciences, Pediatrics, Umea University, Umea, Sweden
    Heart Rhythm 8:541-7. 2011
  6. ncbi request reprint Vectorcardiographic recordings of the Q-T interval in a pediatric long Q-T syndrome population
    Ulla Britt Diamant
    Department of Public Health and Clinical Medicine, Heart Centre, Umea University, 90185 Umea, Sweden
    Pediatr Cardiol 34:245-9. 2013
  7. pmc A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans
    Eva Lena Stattin
    Department of Medical Biosciences, Medical and Clinical Genetics, Umea University Hospital, Umea, Sweden
    Am J Hum Genet 86:126-37. 2010
  8. doi request reprint Low incidence of sudden cardiac death in a Swedish Y111C type 1 long-QT syndrome population
    Annika Winbo
    Division of Pediatrics, Department of Clinical Sciences, Cardiology Heart Centre, Umea University Hospital, Umea, Sweden
    Circ Cardiovasc Genet 2:558-64. 2009
  9. doi request reprint Two automatic QT algorithms compared with manual measurement in identification of long QT syndrome
    Ulla Britt Diamant
    Heart Centre Clinical Physiology, Umea University Hospital, Umea, Sweden
    J Electrocardiol 43:25-30. 2010
  10. pmc Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families
    Annika Winbo
    Department of Clinical Sciences, Pediatrics, Umea University, Umea, Sweden
    BMC Cardiovasc Disord 14:22. 2014

Detail Information

Publications11

  1. doi request reprint Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature
    E L Stattin
    Department of Medical Biosciences, Medical and Clinical Genetics, Umea University, Sweden
    Osteoarthritis Cartilage 16:890-6. 2008
    ..Familial osteochondritis dissecans (OCD) is a rare disorder characterised by disturbed chondro-skeletal development, disproportionate growth and deformation of the skeleton...
  2. pmc Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing
    Eva Lena Stattin
    Department of Medical Biosciences, Medical and Clinical Genetics, Umea University, Umea, Sweden
    BMC Cardiovasc Disord 12:95. 2012
    ..The symptoms in LQTS patients are highly variable, and genotype influences the clinical course. This study aims to report the spectrum of LQTS mutations in a Swedish cohort...
  3. doi request reprint Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene
    Eva Lena Stattin
    Department of Medical Biosciences, Medical and Clinical Genetics, Umea University, Umea, Sweden
    Eur J Med Genet 52:297-302. 2009
    ..This domain is of importance for the interaction between IHH and the Patched receptor. Our combined findings add radiological findings to the BDA1 phenotype and confirm a critical functional domain of IHH...
  4. doi request reprint Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden
    Annika Winbo
    Division of Pediatrics, Department of Clinical Sciences, Pediatrics, Umea University, 90185 Umea, Sweden
    Europace 14:1799-806. 2012
    ..To explore the national prevalence, mutation spectrum, cardiac phenotype, and outcome of the uncommon Jervell and Lange-Nielsen syndrome (JLNS), associated with a high risk of sudden cardiac death...
  5. doi request reprint Origin of the Swedish long QT syndrome Y111C/KCNQ1 founder mutation
    Annika Winbo
    Department of Clinical Sciences, Pediatrics, Umea University, Umea, Sweden
    Heart Rhythm 8:541-7. 2011
    ..The Y111C/KCNQ1 mutation causes a dominant-negative effect in vitro but a benign clinical phenotype in a Swedish long QT syndrome population...
  6. ncbi request reprint Vectorcardiographic recordings of the Q-T interval in a pediatric long Q-T syndrome population
    Ulla Britt Diamant
    Department of Public Health and Clinical Medicine, Heart Centre, Umea University, 90185 Umea, Sweden
    Pediatr Cardiol 34:245-9. 2013
    ..Specificity was 0.80 for QT(VCG), 0.83 for QT(man), 0.77 for QT(ECG), and 0.83 for QT(Interpret). The VCG automatic measurement of QT(c) seems to be a better predictor of LQTS than automatic measurement and interpretation of 12-lead ECG...
  7. pmc A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans
    Eva Lena Stattin
    Department of Medical Biosciences, Medical and Clinical Genetics, Umea University Hospital, Umea, Sweden
    Am J Hum Genet 86:126-37. 2010
    ..Our results provide a molecular mechanism for the etiology of familial osteochondritis dissecans and show the importance of the aggrecan C-type lectin interactions for cartilage function in vivo...
  8. doi request reprint Low incidence of sudden cardiac death in a Swedish Y111C type 1 long-QT syndrome population
    Annika Winbo
    Division of Pediatrics, Department of Clinical Sciences, Cardiology Heart Centre, Umea University Hospital, Umea, Sweden
    Circ Cardiovasc Genet 2:558-64. 2009
    ..This study investigated the phenotype among Y111C-KCNQ1 mutation carriers in the Swedish population with a focus on life-threatening cardiac events...
  9. doi request reprint Two automatic QT algorithms compared with manual measurement in identification of long QT syndrome
    Ulla Britt Diamant
    Heart Centre Clinical Physiology, Umea University Hospital, Umea, Sweden
    J Electrocardiol 43:25-30. 2010
    ..Long QT syndrome (LQTS) is an inherited disorder that increases the risk of syncope and malignant ventricular arrhythmias, which may result in sudden death...
  10. pmc Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families
    Annika Winbo
    Department of Clinical Sciences, Pediatrics, Umea University, Umea, Sweden
    BMC Cardiovasc Disord 14:22. 2014
    ..In Sweden p.R518X accounts for the majority of JLNS cases and is the second most common cause of LQTS. Here we investigate the clinical phenotype and origin of Swedish carriers of the p.R518X mutation...
  11. doi request reprint Electrophysiological phenotype in the LQTS mutations Y111C and R518X in the KCNQ1 gene
    Ulla Britt Diamant
    Department of Public Health and Clinical Medicine, Heart Centre, Umea University, Umea, Sweden
    J Appl Physiol (1985) 115:1423-32. 2013
    ....