S Arbuzova

Summary

Country: Ukraine

Publications

  1. ncbi request reprint Familial Down syndrome: evidence supporting cytoplasmic inheritance
    S Arbuzova
    Interregional Medico Genetic Center, Central Hospital, Donetsk, Ukraine
    Clin Genet 60:456-62. 2001
  2. ncbi request reprint Mitochondrial dysfunction and Down's syndrome
    Svetlana Arbuzova
    Medico Genetic Center, Donetsk, Ukraine
    Bioessays 24:681-4. 2002
  3. ncbi request reprint Frequency of Down's syndrome and neural-tube defects in the same family
    Gad Barkai
    Danek Gertner Institute of Human Genetics, Sheba Medical Centre, Tel Hashomer, and Sackler School of Medicine, Tel Aviv University, 52621, Tel Aviv, Israel
    Lancet 361:1331-5. 2003
  4. ncbi request reprint QF-PCR examination of parental and meiotic origin of trisomy 21 in Central and Eastern Europe
    Marina Machatkova
    University Hospital Motol, Institute of Biology and Medical Genetics, Laboratory of Assisted Reproduction and Reproductive Genetics, V Uvalu 84, Prague 5, 150 06, Czech Republic
    J Histochem Cytochem 53:371-3. 2005

Collaborators

  • Howard Cuckle
  • Marina Machatkova
  • Gad Barkai
  • Tatiana Zerova
  • Michael Petersen
  • Karl Sperling
  • Martina Brouckova
  • Milan Macek
  • Sergei Kutsev
  • Alice Krebsova
  • Svetlana Vorsanova
  • Roman Krejci
  • Milada Matejckova
  • Michal Berkenstadt
  • Sigal Heifetz

Detail Information

Publications4

  1. ncbi request reprint Familial Down syndrome: evidence supporting cytoplasmic inheritance
    S Arbuzova
    Interregional Medico Genetic Center, Central Hospital, Donetsk, Ukraine
    Clin Genet 60:456-62. 2001
    ..01). Such a pattern suggests cytoplasmic inheritance of a risk factor. The hypothesis that mitochondrial DNA mutations have a role in the aetiology of DS is supported by other observations as well as by theoretical considerations...
  2. ncbi request reprint Mitochondrial dysfunction and Down's syndrome
    Svetlana Arbuzova
    Medico Genetic Center, Donetsk, Ukraine
    Bioessays 24:681-4. 2002
    ..1 These findings are consistent with considerable data implicating the role of the mitochondrial genome in DS pathogenesis and aetiology...
  3. ncbi request reprint Frequency of Down's syndrome and neural-tube defects in the same family
    Gad Barkai
    Danek Gertner Institute of Human Genetics, Sheba Medical Centre, Tel Hashomer, and Sackler School of Medicine, Tel Aviv University, 52621, Tel Aviv, Israel
    Lancet 361:1331-5. 2003
    ..We therefore investigated whether Down's syndrome and NTD arise more often in the same family than would be expected from the incidence of each disorder considered separately...
  4. ncbi request reprint QF-PCR examination of parental and meiotic origin of trisomy 21 in Central and Eastern Europe
    Marina Machatkova
    University Hospital Motol, Institute of Biology and Medical Genetics, Laboratory of Assisted Reproduction and Reproductive Genetics, V Uvalu 84, Prague 5, 150 06, Czech Republic
    J Histochem Cytochem 53:371-3. 2005
    ..4% and 14.3% and paternal in 3.1% and 5.7% in Ukraine and Russia, respectively. No significant differences were found in maternal/paternal origin among Ukraine, Russia, Germany, and published data from other European regions...