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A. V. Polyakov | doi.page

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A. V. Polyakov

Research Centre for Medical Genetics(RU)

Publications by Year

Research Areas

Cystic Fibrosis Research Advances, Genetic Neurodegenerative Diseases, Hearing, Cochlea, Tinnitus, Genetics, Muscle Physiology and Disorders, Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

Most-Cited Works

→ Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A(2004)1,546 cited
→ Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy(2004)581 cited
→ A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene(2000)417 cited
→ The Genetic Landscape and Epidemiology of Phenylketonuria(2020)351 cited
→ Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: A cohort study(2009)67 cited
→ Comparative cytogenetics of hamsters of the genus <i>Calomyscus</i>(2000)51 cited
→ Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

(2009)

43 cited

→ A Potential Rearrangement between CYP19 and TRPM7 Genes on Chromosome 15q21.2 as a Cause of Aromatase Excess Syndrome(2005)39 cited

→ Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions(2017)37 cited

→ 657del5 mutation in the gene for Nijmegen breakage syndrome (NBS1) in a cohort of Russian children with lymphoid tissue malignancies and controls(2003)36 cited