RESEARCHER PROFILE

Victoria N. Gorbunova

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V

Saint Petersburg State Pediatric Medical University

Genomics and Rare DiseasesCystic Fibrosis Research AdvancesGenetic Associations and EpidemiologyLysosomal Storage Disorders ResearchGlycogen Storage Diseases and Myoclonus

Victoria N. Gorbunova works in Genomics and Rare Diseases, Cystic Fibrosis Research Advances, Genetic Associations and Epidemiology, Lysosomal Storage Disorders Research, Glycogen Storage Diseases and Myoclonus. Recorded institutional associations include Saint Petersburg State Pediatric Medical University.

59Publications
173Citations
7H-index

Inclusion identifies researchers whose recorded research contributions may inform their university’s understanding of its research community. It does not rank individual research quality or establish current employment.

Selected research works

Up to 100 highly cited works; DOI links open the original research. Counts reflect the collected record, not real-time citation totals.

  1. Chromosomal localization of ceruoplasmin and transferrin genes in laboratory rats, mice and in man by hybridization with specific DNA probes

    1987 · 32 citations
  2. Five years' experience of prenatal diagnosis of cystic fibrosis in the former U.S.S.R.

    1992 · 17 citations
  3. Dystrophin gene analysis and prenatal diagnosis of Duchenne muscular dystrophy in Russia

    1993 · 17 citations
  4. Congenital metabolic diseases. Lysosomal storage diseases

    2021 · 11 citations
  5. Frequency of the F508 deletion in cystic fibrosis patients from the European part of the USSR

    1991 · 9 citations
  6. Molecular genetics — a way to the individual personalized medicine

    2013 · 9 citations
  7. Lysosomal storage diseases: mucopolysaccharidosis type I and II

    2021 · 7 citations
  8. Lysosomal storage diseases. Mucopolysaccharidosis type III, sanfilippo syndrome

    2021 · 6 citations
  9. [Characteristics of ceruloplasmin synthesis in mammalian embryogenesis. 2. The yolk sac as the site of the primary expression of the ceruloplasmin gene in rats].

    1986 · 4 citations
  10. [Use of a chain reaction method of DNA synthesis for analyzing the frequency of restriction polymorphism of the CS-7 DNA locus in the population and in families of patients with mucoviscidosis].

    1989 · 4 citations
  11. Silver-containing ceruloplasmin without polyphenol oxidase activity in rat serum.

    1982 · 4 citations
  12. Lysosomal storage diseases. Mucopolysaccharidosis types IV, VI, and VII – Morquio, Maroto–Lamy and Sly syndrome

    2022 · 4 citations
  13. Lysosomal storage diseases. Sphingolipidoses — Fabry, Gaucher and Farber diseases

    2022 · 4 citations
  14. [High frequency of spontaneous occurrence of mutations affecting viability in chromosome 2 of Drosophila melanogaster line "HA"].

    1975 · 3 citations
  15. [Mapping of the ceruloplasmin gene on human and laboratory mouse chromosomes by direct in situ hybridization].

    1985 · 3 citations
  16. [Mapping of apolipoprotein A-1 and ceruloplasmin genes on human, rat and mouse chromosomes by hybridization in situ with specific human DNA probes].

    1988 · 3 citations
  17. Genetics and epigenetics of syntropic diseases

    2010 · 3 citations
  18. Lysosomal storage diseases. Sphingolipidoses — sphingomyelin lipidosis, or Niemann–Pick disease, Wolman disease

    2022 · 3 citations
  19. Analysis of restriction polymorphism of D7S23 locus by polymerase chain reaction with KM-19 probe in population and cystic fibrosis families

    1990 · 2 citations
  20. [Isolation and physico-chemical properties of rat ceruloplasmin].

    1983 · 2 citations
  21. [Allele polymorphism of the DNA loci MET, D7S8, D7S23, linked to the cystic fibrosis gene in some populations of the USSR, in high risk families and in cystic fibrosis patients].

    1991 · 2 citations
  22. [Polymorphism of nucleotide sequences of human genomic DNA linked to a mucoviscidosis locus].

    1990 · 2 citations
  23. [Characteristics of ceruloplasmin synthesis in embryogenesis and in the early postnatal period of laboratory white rats].

    1984 · 2 citations
  24. [Mapping of the transferrin gene in laboratory rats, mice and man by direct in situ hybridization].

    1984 · 2 citations
  25. Clinical characteristics and epidemiology of lysosomal storage diseases

    2022 · 2 citations

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