A. Polyakov

发表

Coinheritance of Chromosomes 3 and 11 in the Patients with Autosomal Recessive Polycythemia from Chuvachia

N. Vasserman, S. Tverskaya, A. Polyakov, 2005, Russian Journal of Genetics.

Sarcoglycanopathies: Clinical, Molecular and Genetic Characteristics, Epidemiology, Diagnostics and Treatment Options

A. Polyakov, M. V. Bulakh, O. P. Ryzhkova, 2018 .

Molecular-Genetic Study of Phenylketonuria in Patients from Georgia

A. Polyakov, E. Kldiashvili, I. Kuznetsova, 2019, Russian Journal of Genetics.

Genotyping of patients with phenylketonuria from different regions of Russia for determining BH4 responsiveness

A. Polyakov, T. Bushueva, S. Kutsev, 2017, Russian Journal of Genetics.

Prevalence and Molecular Genetic Typing of Nonsyndromic Sensorineural Deafness in Chuvash Republic

E. Ginter, S. D. Nurbaev, A. Polyakov, 2003, Russian Journal of Genetics.

Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant

M. Skoblov, A. Filatova, S. Kutsev, 2021, Genes.

Clinical and genetic characteristics of Russian Marfan patients

A. Polyakov, M. Kharabadze, T. Adyan, 2015, Russian Journal of Genetics.

[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.

Screening for Mutations in the Peripheral Myelin Genes PMP 22 , MPZ and Cx 32 ( GJB 1 ) in Russian Charcot-Marie-Tooth Neuropathy Patients

C. Broeckhoven, C. van Broeckhoven, O. Evgrafov, 2022 .

Circulating tumor DNA as a marker of residual tumor in colon cancer

E. V. Moroz, S. Tjulandin, U. Boyarskikh, 2018, Colorectal Oncology.

The spectrum of mutations in the PAH gene in patients with hyperphenylalaninemia from the Karachay-Cherkess Republic

A. Polyakov, P. Gundorova, R. Zinchenko, 2017, Russian Journal of Genetics.

Mutation spectrum of the PAH gene in phenylketonuria patients in the Karachay-Cherkess Republic (Russia)

A. Polyakov, P. Gundorova, A. Stepanova, 2016, Russian Journal of Genetics.

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4

E. Dadali, A. Polyakov, O. Shchagina, 2022, Genes.

Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia

I. Khidiyatova, R. Magzhanov, E. Khusnutdinova, 2022, Russian Journal of Genetics.

Molecular Genetic Diversity and DNA Diagnostics of Hereditary Spastic Paraplegia

A. Polyakov, G. Rudenskaya, O. Ryzhkova, 2019, Biology Bulletin Reviews.

Clinical and genetic characteristics of Charcot–Marie–Tooth disease type 4D (type Lom) in Russia

T. Fedotova, E. Dadali, A. Polyakov, 2020, Neuromuscular Diseases.

Heterozygous carrier rate for type I–IV proximal spinal muscular atrophy in Chuvashes, Udmurts, and residents of the Moscow region

M. Spiridonova, E. Dadali, A. Polyakov, 2012, Russian Journal of Genetics.

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.

The Genetic Landscape and Epidemiology of Phenylketonuria.

V. Stoppioni, J. Vockley, B. Burton, 2020, American journal of human genetics.

Corrigendum: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

M. Pericak-Vance, S. Züchner, J. Vance, 2004, Nature Genetics.

Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan

E. Khusnutdinova, I. Khidiyatova, R. Magzhanov, 2008, Russian Journal of Genetics.

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

M. Pericak-Vance, S. Züchner, J. Vance, 2004, Nature Genetics.

DNA copy number analysis of the DFNB1 hereditary hearing loss locus

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

Characteristics of spermatogenesis in infertile men with the AZFc region deletions

A. Polyakov, L. Kurilo, V. Chernykh, 2014 .

Molecular Genetic Study of the Causes of Nonsyndromic Sensorineural Hearing Loss in Patients from Georgia

G. Tavartkiladze, A. Polyakov, O. Kvlividze, 2022, Russian Journal of Genetics.

SMN1 gene point mutations in type I–IV proximal spinal muscular atrophy patients with a single copy of SMN1

E. Dadali, A. Polyakov, G. Rudenskaya, 2015, Russian Journal of Genetics.

Types of Y chromosome deletions and their frequency in infertile men

E. M. Grishina, A. Polyakov, D. A. Kramerov, 2006, Russian Journal of Genetics.

Prognostic significance of steroid receptor positivity and adjuvant progestogen use in endometrial stromal sarcoma

M. Quinn, A. Polyakov, R. Rome, 2014, The Australian & New Zealand journal of obstetrics & gynaecology.

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.

Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.

C. van Broeckhoven, O. Evgrafov, V. Timmerman, 2000, Human mutation.

Phenotype in a patient with p.D50N mutation in GJB2 gene resemble both KID and Clouston syndromes.

G. Tavartkiladze, A. Polyakov, T. Markova, 2016, International journal of pediatric otorhinolaryngology.

A prospective study of prognostic role of plasma circulating tumor DNA (ctDNA) in patients (pts) with early-stage malignancies.

S. Tjulandin, M. Filipenko, A. Kechin, 2020, Journal of Clinical Oncology.

Hidden X Chromosomal Mosaicism in a 46,XX Male

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

ANDROLOGY EXAMINATION OF PATIENTS WITH PANCREATIC-SUFFICIENT AND PANCREATIC-INSUFFICIENT CYSTIC FIBROSIS

G. Shmarina, A. Polyakov, T. Adyan, 2018, Andrology and Genital Surgery.

The frequency and spectrum of mutations and the IVS8-T polymorphism of the CFTR gene in Russian infertile men

A. Polyakov, A. Stepanova, L. Kurilo, 2010, Russian Journal of Genetics.

Reliability of the search for 19 common mutations in the CFTR gene in Russian cystic fibrosis patients and the calculated frequency of the disease in Russian Federation

A. Polyakov, A. Stepanova, S. Krasovsky, 2016, Russian Journal of Genetics.

Molecular and Genetic Study of Limb-Girdle Muscular Dystrophy 2D in Patient Cohorts with Various Forms of Progressive Muscular Dystrophies

D. A. Polyakova, E. Dadali, A. Polyakov, 2019, Russian Journal of Genetics.

Hemophilia B Leyden: Literature and Our Data

A. Polyakov, O. Shchagina, R. Zinchenko, 2021, Russian Journal of Genetics.

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

A. Marakhonov, E. Dadali, E. Ginter, 2020, International journal of molecular sciences.

[Molecular genetic diagnosis of Stargardt disease].

I. A. Ronzina, A. Polyakov, V. V. Strel’nikov, 2017, Vestnik oftalmologii.

Geneticl and clinical characteristics of 22q11.2 deletion syndrome

I. Kazantseva, A. Polyakov, T. V. Zolotukhina, 2014, Russian Journal of Genetics.

The Spectrum and Novel Mutations in RS1 Gene in a Russian Cohort of Patients with X-Linked Retinoschisis

A. Polyakov, A. Stepanova, V. Kadyshev, 2021, Russian Journal of Genetics.

Molecular analysis of the Y chromosome in XX sex-reversed patients

V. Fedotov, M. Karmanov, A. Polyakov, 2008, Russian Journal of Genetics.

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

O. Evgrafov, E. Dadali, I. Mersiyanova, 2000, American journal of human genetics.

High frequency of a splice mutation in intron 2 of the 21‐hydroxylase gene in Russia could be partly explained by a founder effect

O. Evgrafov, A. Polyakov, Irina Genrikhovna Dzenis, 1998, Human mutation.

Preliminary investigation of mutations in 21‐hydroxylase gene in patients with congenital adrenal hyperplasia in Russia

O. Evgrafov, A. Polyakov, Irina Genrikhovna Dzenis, 1995, Human mutation.

Frequency and causes of prevalence of p.Arg894* mutation in CLCN1 gene responsible for development of thomsen’s and becker’s myotonias in russian population

A. Polyakov, E. Ivanova, 2013, Russian Journal of Genetics.

Hereditary transthyretin amyloidosis

A. Polyakov, T. Adyan, An Overview, 2020, Neuromuscular Diseases.

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.

[Hearing loss due to mutations or lack of the gene coding protein stereocillin].

G. Tavartkiladze, A. Polyakov, O. Mironovich, 2020, Vestnik otorinolaringologii.

Population frequency and age of c.806 C>T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia

V. Stepanov, M. Voevoda, M. Spiridonova, 2013, Russian Journal of Genetics.

Mutation analysis of K-ras protooncogene in colorectal adenocarcinomas and polyps in Russian patients

F. Amosenko, A. Polyakov, R. Garkavtseva, 2010, Russian Journal of Genetics.

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia

E. Conte, F. Girolamo, J. Desaphy, 2020, Frontiers in Neurology.

Heterozygous carrier rate for type I–IV proximal spinal muscular atrophy in Chuvashes, Udmurts, and residents of the Moscow region

M. Spiridonova, E. Dadali, A. Polyakov, 2012, Russian Journal of Genetics.

Genetic structure of the Udmurt population

E. Ginter, A. Polyakov, R. Zinchenko, 2007, Russian Journal of Genetics.

A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy

A. Polyakov, O. Shchagina, V. Chernykh, 2021, Frontiers in Genetics.

Clinical and genetic characteristics of congenital muscular dystrophies (part 2)

A. Polyakov, P. Chausova, O. Ryzhkova, 2020, Neuromuscular Diseases.

E. Dadali, A. Polyakov, D. Khmelkova, 2020, BMC Neurology.

Molecular Genetic Diversity and DNA Diagnostics of Hereditary Spastic Paraplegia

A. Polyakov, G. Rudenskaya, O. Ryzhkova, 2019, Biology Bulletin Reviews.

Deletions in AZFc Region of Y Chromosome in Russian Fertile Men

O. Schagina, A. Polyakov, I. Kuznetsova, 2022, Russian Journal of Genetics.

Nijmegen breakage syndrome.

I. Kondratenko, A. Bologov, A. Polyakov, 2007, Advances in experimental medicine and biology.

[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.

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

A. Marakhonov, E. Ginter, A. Polyakov, 2021, Frontiers in Genetics.

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

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

A new case of infantile‐onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family

A. Polyakov, O. Shchagina, I. A. Akimova, 2019, European journal of neurology.

Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus

M. Macek, A. Marakhonov, E. Ginter, 2019, BMC Medical Genetics.

Diversity and Prevalence of Hereditary Diseases among Nogais of the Karachay-Cherkess Republic

A. Marakhonov, E. Dadali, E. Ginter, 2018, Russian Journal of Genetics.

Mutation p.E92K is the primary cause of cystic fibrosis in Chuvashes

A. Polyakov, A. V. Abrukova, A. Stepanova, 2012, Russian Journal of Genetics.

Unique mosaic X/Y translocation/insertion in infant 45,X male

A. Polyakov, L. Kurilo, V. Chernykh, 2008, American journal of medical genetics. Part A.

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

O. Evgrafov, I. Kondratenko, S. Tverskaya, 2003, American journal of medical genetics. Part A.

Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic.

A. Marakhonov, E. Dadali, E. Ginter, 2018, International journal of molecular epidemiology and genetics.

SMN1 gene point mutations in type I–IV proximal spinal muscular atrophy patients with a single copy of SMN1

E. Dadali, A. Polyakov, G. Rudenskaya, 2015, Russian Journal of Genetics.

Genotyping of patients with phenylketonuria from different regions of Russia for determining BH4 responsiveness

A. Polyakov, T. Bushueva, S. Kutsev, 2017, Russian Journal of Genetics.

Mutation spectrum of the PAH gene in phenylketonuria patients in the Karachay-Cherkess Republic (Russia)

A. Polyakov, P. Gundorova, A. Stepanova, 2016, Russian Journal of Genetics.

Novel large deletion c.22-1320_633+1224del in the CYB5R3 gene from patients with hereditary methemoglobinemia

A. Polyakov, N. Galeeva, S. A. Nenasheva, 2012, Russian Journal of Genetics.

Population frequency and age of c.806 C>T mutation in CYB5R3 gene as cause of recessive congenital methemoglobinemia in Yakutia

V. Stepanov, M. Voevoda, M. Spiridonova, 2013, Russian Journal of Genetics.

HTT Gene Premutation Allele Frequencies in the Russian Federation

S. Kopishinskaya, O. Schagina, A. Polyakov, 2018, Russian Journal of Genetics.

Prevalences of hereditary diseases in different populations of Russia

E. Ginter, A. Polyakov, R. Zinchenko, 2007, 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.

Clinical and Genetic Characteristics of Noonan Syndrome and Noonan-like Diseases

E. Dadali, A. Polyakov, A. Orlova, 2020, Russian Journal of Genetics.

The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen’s and Becker’s myotonias

V. Fedotov, E. Dadali, A. Polyakov, 2012, Russian Journal of Genetics.

Frequency and causes of prevalence of p.Arg894* mutation in CLCN1 gene responsible for development of thomsen’s and becker’s myotonias in russian population

A. Polyakov, E. Ivanova, 2013, Russian Journal of Genetics.

Mutation p.E92K is the primary cause of cystic fibrosis in Chuvashes

A. Polyakov, A. V. Abrukova, A. Stepanova, 2012, Russian Journal of Genetics.

Molecular-genetic basis of Rubinstein–Taybi syndrome

A. Polyakov, T. Adyan, O. Ismagilova, 2023, Neuromuscular Diseases.

Dystrophin gene analysis and prenatal diagnosis of Duchenne muscular dystrophy in Russia

O. Evgrafov, A. Mikhailov, V. Baranov, 1993, Prenatal diagnosis.

Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract

O. Evgrafov, A. Polyakov, O. Khlebnikova, 2001, Clinical genetics.

Medical Genetic Study of Hereditary Diseases in Abazins of the Karachay-Cherkess Republic

A. Marakhonov, E. Dadali, E. Ginter, 2018, Russian Journal of Genetics.

The spectrum of mutations in the PAH gene in patients with hyperphenylalaninemia from the Karachay-Cherkess Republic

A. Polyakov, P. Gundorova, R. Zinchenko, 2017, Russian Journal of Genetics.

HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients

E. Dadali, A. Polyakov, O. Shchagina, 2019, Molecular Biology Reports.

GENETIC FACTORS OF MALE INFERTILITY, THEIR COMBINATIONS AND THE SPERMATOLOGICAL CHARACTERISTICS OF MEN WITH FERTILITY FAILURES

A. Polyakov, L. Akulenko, A. Stepanova, 2018, Andrology and Genital Surgery.

An influence of androgen receptor (AR) gene СAG-polymorphism on spermatogenesis in infertile men

S. Ermolaeva, A. Polyakov, T. V. Ostroumova, 2015 .

The accuracy of spot urinary protein‐to‐creatinine ratio in confirming proteinuria in pre‐eclampsia

A. Polyakov, Anne Hotchin, Thomas J Cade, 2012, The Australian & New Zealand journal of obstetrics & gynaecology.

A clinical case of partial androgen resistance syndrome (Reifenstein syndrome)

E. Ivannikova, A. Polyakov, L. Dzeranova, 2020 .

Case Report: Complicated Molecular Diagnosis of MECP2 Gene Structural Rearrangement in a Proband with Rett Syndrome

I. Kanivets, F. Konovalov, A. Polyakov, 2020, Journal of autism and developmental disorders.

Updating Diagnostic Spectrum of Recurring CFTR Mutations

A. Polyakov, S. Krasovskiy, A. Stepanova, 2018, Russian Journal of Genetics.

CFTR Gene Variants and Genotypes in Russian Patients with CBAVD Syndrome

A. Polyakov, A. Stepanova, T. Adyan, 2020, Russian Journal of Genetics.

Genetic Landscape of Nephropathic Cystinosis in Russian Children

A. Fisenko, V. Maltseva, A. Polyakov, 2022, Frontiers in Genetics.

Complex Molecular Diagnostics of Hemophilia A in Russian Patients

O. Schagina, A. Polyakov, O. Ryzhkova, 2019, Russian Journal of Genetics.

A new allelic variant of rigid spine syndrome

E. Dadali, A. Polyakov, I. Sharkova, 2016, Human Physiology.

Evaluation of clinical significance of с.2956G>A (rs112287730) polymorphism in FBN1 gene in Marfan syndrome

A. Polyakov, T. Adyan, V. Rumyantseva, 2017, Russian Journal of Genetics.

Clinical and genetic characteristics of Russian Marfan patients

A. Polyakov, M. Kharabadze, T. Adyan, 2015, Russian Journal of Genetics.

New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.

E. Zaklyazminskaya, A. Shestak, A. Polyakov, 2016, Gene.

Identification of large deletions in the APC gene in Russian patients with familial adenomatous polyposis.

A. Polyakov, V. Shubin, S. Frolov, 2020, Neoplasma.

Spectrum of Mutations in the ATP7B Gene in Russian Patients with Wilson’s Disease

A. Karunas, A. Sokolov, A. Polyakov, 2019, Russian Journal of Genetics.