E. Bliznetz

发表

[The clinical definition and etiology of Pendred syndrome (a review of the literature and clinical observations)].

G. Tavartkiladze, E. Zelikovich, A. Polyakov, 2016, Vestnik otorinolaringologii.

[The analysis of the association of the polymorphic variants of the TPMT, COMT, and ABCC3 genes with the development of hearing disorders induced by the cisplatin treatment].

T. Shamanskaya, D. Kachanov, S. Varfolomeeva, 2018, Vestnik otorinolaringologii.

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

E. Balanovska, O. Balanovsky, E. Pocheshkhova, 2017, Journal of Human Genetics.

DNA copy number analysis of the DFNB1 hereditary hearing loss locus

I. Kanivets, A. Polyakov, A. Polyakov, 2017, Russian Journal of Genetics.

Spectrum of the GJB2 mutations in Belarussian patients with hearing loss. Findings of pilot genetic screening of hearing impairment in newborns

A. Polyakov, E. Bliznetz, T. Markova, 2014, Russian Journal of Genetics.

Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel

A. Polyakov, O. Ryzhkova, A. Stepanova, 2022, International journal of molecular sciences.

A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia

M. Metspalu, O. Posukh, E. Metspalu, 2021, Human Genetics.

A common founder effect of the splice site variant c.-23 + 1G > A in GJB2 gene causing autosomal recessive deafness 1A (DFNB1A) in Eurasia

M. Metspalu, O. Posukh, E. Metspalu, 2021, Human Genetics.

Hidden X Chromosomal Mosaicism in a 46,XX Male

A. Polyakov, T. V. Zolotukhina, N. Shilova, 2009, Sexual Development.

Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)

P. Lønning, D. Charlesworth, L. Aaltonen, 2014, Oncotarget.

Early audiological phenotype in patients with mutations in the USH2A gene.

G. Tavartkiladze, A. Polyakov, M. Weener, 2022, International journal of pediatric otorhinolaryngology.

Clinical features of hearing loss caused by STRC gene deletions/mutations in Russian population.

G. Tavartkiladze, A. Polyakov, O. Mironovich, 2020, International journal of pediatric otorhinolaryngology.

Hereditary angioedema. Clinical guidelines. (D84.1)

L. Namazova-Baranova, A. Shcherbina, E. Vishneva, 2021, Russian Journal of Allergy.

Hereditary angioedema . Clinical guidelines ©

L. Namazova-Baranova, A. Shcherbina, E. Vishneva, 2021 .

Hereditary Angioedema (HAE) with a mutation in the plasminogen gene: a retrospective study of a cohort of 14 patients from Russia

T. Latysheva, A. Polyakov, E. Bliznetz, 2021, Russian Journal of Allergy.

Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss

G. Tavartkiladze, A. Polyakov, O. Ryzhkova, 2022, Journal of personalized medicine.

Polymorphism of CAG Repeats in Exon 1 of the Androgen Receptor Gene in Russian Men with Various Forms of Pathozoospermia

O. Solovova, I. Kuznetsova, L. Kurilo, 2020, Russian Journal of Genetics.

[Twenty years of clinical studies of GJB2-linked hearing loss in Russia].

G. Tavartkiladze, A. Polyakov, E. Bliznetz, 2018, Vestnik otorinolaringologii.

Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect

S. Tverskaya, A. Polyakov, A. V. Abrukova, 2009, European Journal of Human Genetics.

Changes in the connexin 26 gene (GJB2) in Russian patients with hearing loss: Results of long-term molecular diagnostics of hereditary nonsyndromic hearing loss

A. Polyakov, G. Matyushchenko, V. Galkina, 2012, Russian Journal of Genetics.

Molecular Genetic Causes and Clinical Description of Branchio-Oto-renal Syndrome

A. Polyakov, O. Mironovich, E. Bliznetz, 2019, Russian Journal of Genetics.

Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus

I. Kuznetsova, P. Gundorova, A. Stepanova, 2018, PloS one.

Retinoblastoma: Diagnostics and Genetic Counseling

V. Polyakov, S. Mikhaylova, E. Alekseeva, 2015 .

New recurrent large deletion, encompassing both GJB2 and GB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive mode of inheritance

A. Polyakov, O. Makienko, E. G. Okuneva, 2014, Russian Journal of Genetics.

Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders

G. Tavartkiladze, E. Zelikovich, A. Polyakov, 2017, Russian Journal of Genetics.

DNA copy number analysis of the DFNB1 hereditary hearing loss locus

I. Kanivets, A. Polyakov, E. Bliznetz, 2017, Russian Journal of Genetics.

New recurrent large deletion, encompassing both GJB2 and GB6 genes, results in isolated sensorineural hearing impairment with autosomal recessive mode of inheritance

A. Polyakov, O. Makienko, E. G. Okuneva, 2014, Russian Journal of Genetics.

[Epidemiology of hearing loss in children of the first year of life].

G. Tavartkiladze, A. Polyakov, A. Yasinskaya, 2018, Vestnik otorinolaringologii.

[The results of cochlear implantation in the patient with hereditary and non-hereditary hearing loss].

G. Tavartkiladze, A. Polyakov, M. Goykhburg, 2016, Vestnik otorinolaringologii.