Publications by authors named "Alexander V Polyakov"

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Balanced Translocations Involving the Gene as a Cause of Muscular Dystrophy in Female Children: A Description of Three Cases.
Ekaterina O Vorontsova, Aysylu Murtazina, Elena Zinina, Alexander V Polyakov, Maria Sumina

Int J Mol Sci· September 2025

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Molecular genetic analysis of Rubinstein-Taybi syndrome in Russian patients.
Olga R Ismagilova, Tagui A Adyan, Tatiana S Beskorovainaya, Alexander V Polyakov

Front Genet· January 2025

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Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns.
Irina Yu Efimova, Rena A Zinchenko, Andrey V Marakhonov, Natalya V Balinova, Kristina A Mikhalchuk, Alexander V Polyakov

Pediatr Neurol· July 2024

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Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Andrey V Marakhonov, Irina Yu Efimova, Anna A Mukhina, Rena A Zinchenko, Natalya V Balinova, Alexander V Polyakov

J Clin Immunol· April 2024

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Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the Gene.
Inna S Tebieva, Polina V Mishakova, Yulia V Gabisova, Alana V Khokhova, Tamara G Kaloeva, Alexander V Polyakov

Int J Mol Sci· April 2024

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Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.
Tatiana G Markova, Natalia N Alekseeva, Oxana P Ryzhkova, Olga L Shatokhina, Anna A Orlova, Alexander V Polyakov

J Int Adv Otol· March 2024

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Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in -Related Retinal Dystrophy in an Eastern European Population.
Vitaly V Kadyshev, Ekaterina A Alekseeva, Vladimir V Strelnikov, Anna A Stepanova, Alexander V Polyakov

Int J Mol Sci· November 2023

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Microstructural Features and Microhardness of the Ti-6Al-4V Alloy Synthesized by Additive Plasma Wire Deposition Welding.
Irina P Semenova, Yuri D Shchitsyn, Dmitriy N Trushnikov, Alfiz I Gareev, Alexander V Polyakov

Materials (Basel)· January 2023

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Microstructure and Mechanical Properties of β-Titanium Ti-15Mo Alloy Produced by Combined Processing including ECAP-Conform and Drawing.
Svetlana A Gatina, Veronika V Polyakova, Alexander V Polyakov, Irina P Semenova

Materials (Basel)· December 2022

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Corrigendum: Epidemiology of rare hereditary diseases in the European part of Russia: Point and cumulative prevalence.
Rena A Zinchenko, Eugeny K Ginter, Andrey V Marakhonov, Nika V Petrova, Vitaly V Kadyshev, Alexander V Polyakov

Front Genet· September 2022

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Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.
Alla Nikolaevna Semyachkina, Ekaterina Alexandrovna Nikolaeva, Nailya Mansurovna Galeeva, Alexander Vladimirovich Polyakov, Maria Andreevna Kurnikova

F1000Res· October 2021

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Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence.
Rena A Zinchenko, Eugeny K Ginter, Andrey V Marakhonov, Nika V Petrova, Vitaly V Kadyshev, Alexander V Polyakov

Front Genet· August 2021

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Laser cladding of bioactive glass coating on pure titanium substrate with highly refined grain structure.
Szymon Bajda, Yijun Liu, Riccardo Tosi, Katarzyna Cholewa-Kowalska, Michal Krzyzanowski, Alexander V Polyakov

J Mech Behav Biomed Mater· July 2021

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Pathomechanisms of a Mutation Found in a Russian Family Suffering From Becker's Myotonia.
Concetta Altamura, Evgeniya A Ivanova, Paola Imbrici, Elena Conte, Giulia Maria Camerino, Alexander V Polyakov

Front Neurol· September 2020

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The Genetic Landscape and Epidemiology of Phenylketonuria.
Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, Alberto Burlina, Barbara K Burton, Alexander V Polyakov

Am J Hum Genet· August 2020

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Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.
Rena A Zinchenko, Amin Kh Makaov, Andrey V Marakhonov, Varvara A Galkina, Vitaly V Kadyshev, Alexander V Polyakov

Int J Mol Sci· January 2020

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Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic.
Rena A Zinchenko, Vitaly V Kadyshev, Galina I El'chinova, Andrey V Marakhonov, Varvara A Galkina, Alexander V Polyakov

Int J Mol Epidemiol Genet· August 2018

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Molybdenum Disulfide Surface Modification of Ultrafine-Grained Titanium for Enhanced Cellular Growth and Antibacterial Effect.
Myeong Hwan Shin, Seung Mi Baek, Alexander V Polyakov, Irina P Semenova, Ruslan Z Valiev

Sci Rep· July 2018

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Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions.
Elena A Bliznetz, Maria R Lalayants, Tatiana G Markova, Oleg P Balanovsky, Elena V Balanovska, Alexander V Polyakov

J Hum Genet· August 2017

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Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.
Elena A Bliznetz, Svetlana M Tverskaya, Rena A Zinchenko, Anna V Abrukova, Ekaterina N Savaskina, Alexander V Polyakov

Eur J Hum Genet· May 2009

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A novel splicing mutation in exon 4 (456G>A) of the GH1 gene in a patient with congenital isolated growth hormone deficiency.
Olga V Fofanova, Oleg V Evgrafov, Alexander V Polyakov, Valentina A Peterkova, Ivan I Dedov

Hormones (Athens)· January 2007

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Stephan Züchner, Irina V Mersiyanova, Maria Muglia, Nisrine Bissar-Tadmouri, Julie Rochelle, Alexander V Polyakov

Nat Genet· May 2004

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Optimal eigenanalysis for the treatment of aerosols in the retrieval of atmospheric composition from transmission measurements.
Yuriy M Timofeyev, Alexander V Polyakov, Helen M Steele, Michael J Newchurch

Appl Opt· May 2003

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A novel IVS2 -2A>T splicing mutation in the GH-1 gene in familial isolated growth hormone deficiency type II in the spectrum of other splicing mutations in the Russian population.
Olga V Fofanova, Oleg V Evgrafov, Alexander V Polyakov, Andrey B Poltaraus, Valentina A Peterkova

J Clin Endocrinol Metab· February 2003

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