Search Results - "Polyakov AV"

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

Authors: Polyakov, AV Shagina, IA Khlebnikova, OV et al.

Source: Clinical Genetics. Dec2001, Vol. 60 Issue 6, p476-478. 3p.

Molecular and genetic characteristics of patients from the National Registry of Duchenne/Becker Muscular Dystrophy in the Russian Federation: Pilot analysis.

Authors: Sparber PA Zinina EV Shchagina O et al.

Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2025 Nov; Vol. 12 (6), pp. 828-836. Date of Electronic Publication: 2025 Jul 20.

Publication Type: Journal Article; Multicenter Study; Observational Study

Journal Info: Publisher: IOS Press Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Molecular Genetic and Biochemical Characterization of Hyperphenylalaninemia Based on Expanded Neonatal Screening Data from 2023 to 2024 in the Russian Federation.

Authors: Lotnik EE Chukhrova AL Ryadninskaya NV et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2026 Jun 21; Vol. 27 (12). Date of Electronic Publication: 2026 Jun 21.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Experience in Molecular Genetic Diagnostics of Birt-Hogg-Dubé Syndrome: Characteristics of Identified Mutations and Evolution of the Methodological Approach.

Authors: Sermyagina IG Mikhaylenko DS Kuryakova NB et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2026 May 25; Vol. 27 (11). Date of Electronic Publication: 2026 May 25.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Two Years of Expanded Newborn Screening in Russia: High-Throughput Detection of Inherited Metabolic Disorders by Tandem Mass Spectrometry with Next-Generation Sequencing Confirmation.

Authors: Zakharova EY Baydakova GV Baranova PV et al.

Source: International journal of neonatal screening [Int J Neonatal Screen] 2026 Mar 02; Vol. 12 (1). Date of Electronic Publication: 2026 Mar 02.

Publication Type: Journal Article

Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101665400 Publication Model: Electronic Cited Medium: Internet ISSN: 2409-515X (Electronic) Linking ISSN: 2409515X NLM ISO Abbreviation: Int J Neonatal Screen Subsets: PubMed not MEDLINE

Phenotype Variations in a Family with Various Rearrangements in the Locus of the SHOX Gene.

Authors: Beskorovainaya TS Markova TV Polyakov AV et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2026 Feb 05; Vol. 27 (3). Date of Electronic Publication: 2026 Feb 05.

Publication Type: Journal Article; Case Reports

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Mutational spectrum of EDA, EDAR, EDARADD, and WNT10A genes in the largest cohort of Russian patients with hypohidrotic ectodermal dysplasia.

Authors: Kovalskaia VA Cherevatova TB Zinina EV et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2026 Feb 05; Vol. 21 (1), pp. 45. Date of Electronic Publication: 2026 Feb 05.

Publication Type: Journal Article

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Molecular genetic analysis of Rubinstein-Taybi syndrome in Russian patients.

Authors: Ismagilova OR Adyan TA Beskorovainaya TS et al.

Source: Frontiers in genetics [Front Genet] 2025 Jan 31; Vol. 16, pp. 1516565. Date of Electronic Publication: 2025 Jan 31 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

[Approaches in microsurgery for olfactory meningiomas: a systematic review and meta-analysis].

Transliterated Title: Dostupy v mikrokhirurgii ol'faktornykh meningiom. Sistematicheskii obzor literatury i metaanaliz.

Authors: Abdullaev AN Dzhindzhikhadze RS Polyakov AV et al.

Source: Zhurnal voprosy neirokhirurgii imeni N. N. Burdenko [Zh Vopr Neirokhir Im N N Burdenko] 2026; Vol. 90 (2), pp. 103-111.

Publication Type: Journal Article; Systematic Review; Meta-Analysis; English Abstract

Journal Info: Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 7809757 Publication Model: Print Cited Medium: Print ISSN: 0042-8817 (Print) Linking ISSN: 00428817 NLM ISO Abbreviation: Zh Vopr Neirokhir Im N N Burdenko Subsets: MEDLINE

Does everyone need to take vitamin D? High prevalence of CYP24A1 deficiency in the Russian population.

Authors: Kulikova KS Papizh SV Polyakov AV et al.

Source: Problemy endokrinologii [Probl Endokrinol (Mosk)] 2025 Dec 02; Vol. 71 (5), pp. 31-39. Date of Electronic Publication: 2025 Dec 02.

Publication Type: Journal Article

Journal Info: Publisher: Media Sfera Country of Publication: Russia (Federation) NLM ID: 0140673 Publication Model: Electronic Cited Medium: Internet ISSN: 2308-1430 (Electronic) Linking ISSN: 03759660 NLM ISO Abbreviation: Probl Endokrinol (Mosk) Subsets: MEDLINE

Balanced Translocations Involving the DMD Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases.

Authors: Vorontsova EO Murtazina A Zinina E et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2025 Sep 25; Vol. 26 (19). Date of Electronic Publication: 2025 Sep 25.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Genotype Structure Alterations in 5q SMA Patients as a Result of the Newborn Screening Program Implementation in the Russian Federation.

Authors: Akhkiamova MA Marakhonov AV Zabnenkova VV et al.

Source: International journal of molecular sciences [Int J Mol Sci] 2025 Aug 15; Vol. 26 (16). Date of Electronic Publication: 2025 Aug 15.

Publication Type: Journal Article

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.

Authors: Marakhonov AV Efimova IY Mukhina AA et al.

Source: Journal of clinical immunology [J Clin Immunol] 2024 Apr 05; Vol. 44 (4), pp. 93. Date of Electronic Publication: 2024 Apr 05.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE

Russian Regional Differences in Allele Frequencies of CFTR Gene Variants: Genetic Monitoring of Infertile Couples.

Authors: Glotov AS Chernykh VB Solovova OA et al.

Source: Genes [Genes (Basel)] 2023 Dec 27; Vol. 15 (1). Date of Electronic Publication: 2023 Dec 27.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Transpalpebral approach for microsurgical clipping of an unruptured basilar apex aneurysm: case report and literature review.

Authors: Dzhindzhikhadze RS Dreval ON Lazarev VA et al.

Source: British journal of neurosurgery [Br J Neurosurg] 2023 Oct; Vol. 37 (5), pp. 1258-1262. Date of Electronic Publication: 2020 Nov 30.

Publication Type: Review; Case Reports; Journal Article

Journal Info: Publisher: Taylor & Francis Country of Publication: England NLM ID: 8800054 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1360-046X (Electronic) Linking ISSN: 02688697 NLM ISO Abbreviation: Br J Neurosurg Subsets: MEDLINE

Comprehensive semen examination in patients with pancreatic-sufficient and pancreatic-insufficient cystic fibrosis.

Authors: Sedova AO Shtaut MI Bragina EE et al.

Source: Asian journal of andrology [Asian J Androl] 2023 Sep 01; Vol. 25 (5), pp. 591-597. Date of Electronic Publication: 2023 Mar 03.

Publication Type: Journal Article

Journal Info: Publisher: Shanghai Materia Medica Country of Publication: China NLM ID: 100942132 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1745-7262 (Electronic) Linking ISSN: 1008682X NLM ISO Abbreviation: Asian J Androl Subsets: MEDLINE

Corrigendum: Epidemiology of rare hereditary diseases in the European part of Russia: Point and cumulative prevalence.

Authors: Zinchenko RA Ginter EK Marakhonov AV et al.

Source: Frontiers in genetics [Front Genet] 2022 Sep 09; Vol. 13, pp. 1019916. Date of Electronic Publication: 2022 Sep 09 (Print Publication: 2022).

Publication Type: Published Erratum

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Genetic Landscape of Nephropathic Cystinosis in Russian Children.

Authors: Savostyanov KV Pushkov AA Shchagina OA et al.

Source: Frontiers in genetics [Front Genet] 2022 Apr 28; Vol. 13, pp. 863157. Date of Electronic Publication: 2022 Apr 28 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Evaluation of the stability of furosemide in tablet form during six-month storage in spaceflight and peculiarities of its pharmacokinetics and pharmacodynamics under conditions of anti-orthostatic hypokinesia.

Authors: Polyakov AV Svistunov AA Kondratenko SN et al.

Source: Drug metabolism and personalized therapy [Drug Metab Pers Ther] 2022 Feb 24; Vol. 37 (3), pp. 249-259. Date of Electronic Publication: 2022 Feb 24 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: De Gruyter Country of Publication: Germany NLM ID: 101653409 Publication Model: eCollection Cited Medium: Internet ISSN: 2363-8915 (Electronic) Linking ISSN: 23638915 NLM ISO Abbreviation: Drug Metab Pers Ther Subsets: MEDLINE

Study of the pharmacokinetics of various drugs under conditions of antiorthostatic hypokinesia and the pharmacokinetics of acetaminophen under long-term spaceflight conditions.

Authors: Polyakov AV Svistunov AA Kondratenko SN et al.

Source: Drug metabolism and personalized therapy [Drug Metab Pers Ther] 2021 Nov 29; Vol. 37 (2), pp. 163-175. Date of Electronic Publication: 2021 Nov 29.

Publication Type: Journal Article

Journal Info: Publisher: De Gruyter Country of Publication: Germany NLM ID: 101653409 Publication Model: Electronic Cited Medium: Internet ISSN: 2363-8915 (Electronic) Linking ISSN: 23638915 NLM ISO Abbreviation: Drug Metab Pers Ther Subsets: MEDLINE