Publications by authors named "Rena Zinchenko"

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Genetic Features of Albinism: A Comprehensive Analysis in the Russian Population.
Sofya Ionova, Andrey Marakhonov, Vitaliy Kadyshev, Svetlana Kuznetsova, Tatyana Vasilyeva, Rena Zinchenko

Pigment Cell Melanoma Res· January 2026

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13q Deletion Syndrome Presenting with Lymphopenia Detected Through Newborn Screening for Primary Immunodeficiencies.
Irina Efimova, Anna Mukhina, Zhanna Markova, Sergey Mordanov, Irina Soprunova, Rena Zinchenko

Int J Mol Sci· September 2025

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Harmonizing TREC Thresholds in Newborn Screening for SCID: Insights From Russian Validation Cohort.
Andrey Marakhonov, Ekaterina Kalinina, Sergey Larin, Maryam Khadzhieva, Ekaterina Dudina, Rena Zinchenko

J Clin Lab Anal· August 2025

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The Missing Piece of the Puzzle: Unveiling the Role of Gene in Multiple Osteochondromas in a Large Cohort Study.
Artem Borovikov, Nailya Galeeva, Andrey Marakhonov, Aysylu Murtazina, Varvara Kadnikova, Rena Zinchenko

Hum Mutat· April 2025

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Example of Intrafamilial Clinical Polymorphism in a Family with Osteogenesis Imperfecta.
Varvara A Galkina, Tatyana A Vasilyeva, Inna S Tebieva, Zolina K Getoeva, Andrey V Marakhonov, Rena A Zinchenko

Genes (Basel)· April 2025

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Copy Number Variations of Human Ribosomal Genes in Health and Disease: Role and Causes.
Natalia N Veiko, Elizaveta S Ershova, Elena I Kondratyeva, Lev N Porokhovnik, Rena A Zinchenko

Front Biosci (Landmark Ed)· January 2025

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The frequent variant A57F in the gene in patients from Russia has Finno-Ugric Mari origin.
Dmitrii Subbotin, Sofya Ionova, Andrey Marakhonov, Elena Saifullina, Artem Borovikov, Rena Zinchenko

Front Genet· December 2024

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A Rare Case of -Associated Lymphopenia Revealed by Newborn Screening Using TREC.
Andrey Marakhonov, Elena Serebryakova, Anna Mukhina, Anastasia Vechkasova, Nikolai Prokhorov, Rena Zinchenko

Int J Mol Sci· October 2024

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Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.
Anastasia M Bobreshova, Sofya A Ionova, Vitaly V Kadyshev, Natella V Sukhanova, Iuliia V Viakhireva, Rena A Zinchenko

Int J Mol Sci· October 2024

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Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.
Tatyana Vasilyeva, Vitaly Kadyshev, Olga Khalanskaya, Svetlana Kuznetsova, Sofya Ionova, Rena Zinchenko

Genes (Basel)· October 2024

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Common Variants in the Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.
Olga Shchagina, Anna Stepanova, Polina Mishakova, Vitaliy Kadyshev, Nina Demina, Rena Zinchenko

Biomedicines· October 2024

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Decreased TREC and KREC levels in newborns with trisomy 21.
Andrey Marakhonov, Anna Mukhina, Elena Vlasova, Irina Efimova, Natalya Balinova, Rena Zinchenko

Front Pediatr· October 2024

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Study of the genetic and molecular epidemiology of cystic fibrosis based on the patient registry for planning targeted therapy in Russian Federation.
Elena Kondratyeva, Yuliya Melyanovskaya, Victoriya Sherman, Anna Voronkova, Elena Zhekaite, Rena Zinchenko

Front Genet· October 2024

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The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania.
Sofya A Ionova, Aysylu F Murtazina, Andrey A Marakhonov, Olga A Shchagina, Nina V Ryadninskaya, Rena A Zinchenko

Int J Mol Sci· September 2024

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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

Pediatr Neurol· July 2024

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in cystic fibrosis children and adolescents: overall survival and immune alterations.
Galina Shmarina, Daria Pukhalskaya, Vassiliy Shmarin, Sergey Semykin, Lusine Avakyan, Rena Zinchenko

Front Cell Infect Microbiol· 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

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, Rena A Zinchenko

Int J Mol Sci· April 2024

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Comprehensive Assessment of Modulators' Therapeutic Efficiency for N1303K Variant.
Anna Efremova, Nataliya Kashirskaya, Stanislav Krasovskiy, Yuliya Melyanovskaya, Maria Krasnova, Rena Zinchenko

Int J Mol Sci· February 2024

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An Unusual Presentation of Novel Missense Variant in Gene: NM_000280.4:c.341A>G, p.(Asn114Ser).
Tatyana A Vasilyeva, Natella V Sukhanova, Olga V Khalanskaya, Andrey V Marakhonov, Nikolai S Prokhorov, Rena A Zinchenko

Curr Issues Mol Biol· December 2023

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Epidemiology of Gene Pathogenic Variants and Expected Prevalence of -Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.
Tatyana A Vasilyeva, Andrey V Marakhonov, Anna A Voskresenskaya, Vitaly V Kadyshev, Natella V Sukhanova, Rena A Zinchenko

Genes (Basel)· November 2023

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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, Rena A Zinchenko

Int J Mol Sci· November 2023

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Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome.
Andrey V Marakhonov, Tatyana A Vasilyeva, Marina E Minzhenkova, Natella V Sukhanova, Peter A Sparber, Rena A Zinchenko

Int J Mol Sci· November 2023

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Co-Occurrence of Congenital Aniridia Due to Nonsense Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient.
Tatyana A Vasilyeva, Natella V Sukhanova, Andrey V Marakhonov, Natalia Yu Kuzina, Nadezhda V Shilova, Rena A Zinchenko

Int J Mol Sci· October 2023

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Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel.
Elena Kondratyeva, Yuliya Melyanovskaya, Anna Efremova, Mariya Krasnova, Diana Mokrousova, Rena Zinchenko

Genes (Basel)· August 2023

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