Search Results - "Polyakov AV"

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

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

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

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

Author index to volume 9.

Source: European Journal of Human Genetics. Dec2001, Vol. 9 Issue 12, p974. 6p.

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

Effect of annealing on the hot salt corrosion resistance of the fine-grained titanium α-alloy Ti–2.5Al–2.6Zr obtained via cold rotary swaging.

Authors: Chuvil'deev, V. N. Nokhrin, A. V. Likhnitskii, C. V. et al.

Source: Journal of Materials Science; Mar2025, Vol. 60 Issue 9, p4389-4411, 23p

Research focus and theme trend on Charcot–Marie–Tooth disease since 2000: a bibliometric analysis.

Authors: Dai, Shimiao Zhu, Junying Yang, Aolin et al.

Source: Egyptian Journal of Neurology, Psychiatry & Neurosurgery. 2/17/2025, Vol. 61 Issue 1, p1-10. 10p.

Peripheral myelin protein 22 p.Tll8M point mutation in a family with no clinical phenotypes of Charcot-Marie-Tooth disease.

Authors: Sreedevi, N. Swapna, N. Maruthy, Santosh et al.

Source: Journal of Neurosciences in Rural Practice. Jan-Mar2026, Vol. 17 Issue 1, p1-3. 3p.

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] 2021 Aug 30; Vol. 12, pp. 678957. Date of Electronic Publication: 2021 Aug 30 (Print Publication: 2021).

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

Identification of Novel F9 Gene Variants in 143 Vietnamese Patients with Hemophilia B.

Authors: Bach, Khanh Quoc Duong, Chinh Quoc Vu, Huong Thi Bich et al.

Source: Journal of Blood Medicine. Apr2025, Vol. 16, p163-176. 14p.

Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.

Authors: Efimova IY Zinchenko RA Marakhonov AV et al.

Source: Pediatric neurology [Pediatr Neurol] 2024 Jul; Vol. 156, pp. 147-154. Date of Electronic Publication: 2024 Apr 24.

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Multicenter study on long-term growth in patients with phenylketonuria.

Authors: Stanescu, S. Belanger-Quintana, A. Rocha, J. C. et al.

Source: Orphanet Journal of Rare Diseases. 8/4/2025, Vol. 20 Issue 1, p1-7. 7p.

Effect of Plastic Deformation in Various Temperature-Rate Conditions on Structure and Mechanical Properties of Biodegradable Fe–30Mn–5Si Alloy.

Authors: Kadirov, P. Zhukova, Y. Pustov, Y. et al.

Source: Metallurgical & Materials Transactions. Part A; Mar2024, Vol. 55 Issue 3, p895-909, 15p

Microstructural analysis of titanium alloys based on high-temperature phase reconstruction.

Authors: Lypchanskyi, Oleksandr Muszka, Krzysztof Wynne, Bradley et al.

Source: Journal of Materials Science; Oct2024, Vol. 59 Issue 40, p18901-18915, 15p

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

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

Authors: Chausova PA Ryzhkova OP Rudenskaya GE et al.

Source: Frontiers in genetics [Front Genet] 2021 Oct 29; Vol. 12, pp. 686800. Date of Electronic Publication: 2021 Oct 29 (Print Publication: 2021).

Publication Type: Case Reports; 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

Review: nanoSPD-produced metallic materials for advanced medical devices.

Authors: Valiev, Ruslan Z. Zheng, Yufeng Edalati, Kaveh

Source: Journal of Materials Science; Apr2024, Vol. 59 Issue 14, p5681-5697, 17p

BH4-deficient hyperphenylalaninemia in Russia.

Authors: Gundorova P Kuznetcova IA Baydakova GV et al.

Source: PloS one [PLoS One] 2021 Apr 06; Vol. 16 (4), pp. e0249608. Date of Electronic Publication: 2021 Apr 06 (Print Publication: 2021).

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

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE

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