Publications by authors named "Alexander Pushkov"

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A Unique Case of a Child with Two Rare Hereditary Diseases: Familial Dilated Cardiomyopathy and Arterial Calcification.
Yulia Burykina, Daria Chudakova, Olga Zharova, Elena Basargina, Irina Silnova, Alexander Pushkov

Int J Mol Sci· June 2025

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Case Series: Genetic mimics of hypertrophic cardiomyopathy in elderly.
Olga S Chumakova, Olga A Drobyazko, Elena A Stepanova, Alexander A Pushkov, Kirill V Savostyanov

Front Cardiovasc Med· June 2025

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Genetic and Clinical Features of Schimke Immuno-Osseous Dysplasia: Single-Centre Retrospective Study of 21 Unrelated Paediatric Patients over a Period of 20 Years.
Anastasiia Milovanova, Petr Ananin, Tatiana Vashurina, Olga Zrobok, Svetlana Dmitrienko, Alexander Pushkov

Int J Mol Sci· February 2025

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Mutations in Mismatch Repair Genes and Microsatellite Instability Status in Pancreatic Cancer.
Marina Emelyanova, Anna Ikonnikova, Alexander Pushkov, Elena Pudova, George Krasnov

Cancers (Basel)· May 2024

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Clinical features of pediatric Danon disease and the importance of early diagnosis.
Leila Gandaeva, Natalia Sonicheva-Paterson, William J McKenna, Kirill Savostyanov, Roman Myasnikov, Alexander Pushkov

Int J Cardiol· October 2023

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Genotype-Phenotype Correlations in 293 Russian Patients with Causal Fabry Disease Variants.
Kirill Savostyanov, Alexander Pushkov, Ilya Zhanin, Natalya Mazanova, Alexander Pakhomov

Genes (Basel)· October 2023

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Comparison of disease phenotypes and mechanistic insight on causal variants in patients with DADA2.
Liang Chen, Anna Mamutova, Anna Kozlova, Elena Latysheva, Frolov Evgeny, Alexander Pushkov

J Allergy Clin Immunol· September 2023

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Targeted NGS in Diagnostics of Genodermatosis Characterized by the Epidermolysis Bullosa Symptom Complex in 268 Russian Children.
Kirill Savostyanov, Nikolay Murashkin, Alexander Pushkov, Ilya Zhanin, Elkhan Suleymanov

Int J Mol Sci· November 2022

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Clinical and Genetic Characteristics of Pediatric Patients with Hypophosphatasia in the Russian Population.
Oleg S Glotov, Kirill V Savostyanov, Tatyana S Nagornova, Alexandr N Chernov, Mikhail A Fedyakov, Alexander A Pushkov

Int J Mol Sci· October 2022

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Signatures of Dermal Fibroblasts from RDEB Pediatric Patients.
Arkadii K Beilin, Nadezhda A Evtushenko, Daniil K Lukyanov, Nikolay N Murashkin, Eduard T Ambarchian, Alexander A Pushkov

Int J Mol Sci· February 2021

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The Prevalence and Clinical Features of Fabry Disease in Hemodialysis Patients: Russian Nationwide Fabry Dialysis Screening Program.
Sergey Moiseev, Victor Fomin, Kirill Savostyanov, Alexander Pushkov, Alexey Moiseev

Nephron· December 2019

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A kinetic assay of total lipase activity for detecting lysosomal acid lipase deficiency (LAL-D) and the molecular characterization of 18 LAL-D patients from Russia.
Nikolay Mayanskiy, Ekaterina Brzhozovskaya, Alexander Pushkov, Tatiana Strokova, Nikolay Vlasov

JIMD Rep· July 2019

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Molecular characteristics of patients with glycosaminoglycan storage disorders in Russia.
Dimitry A Chistiakov, Kirill V Savost'anov, Lyudmila M Kuzenkova, Anait K Gevorkyan, Alexander A Pushkov

Clin Chim Acta· September 2014

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Genetic analysis of 17 children with Hunter syndrome: identification and functional characterization of four novel mutations in the iduronate-2-sulfatase gene.
Dimitry A Chistiakov, Lyudmila M Kuzenkova, Kirill V Savost'anov, Anait K Gevorkyan, Alexander A Pushkov

J Genet Genomics· April 2014

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