Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome
Vasilyeva, Tatyana A., Marakhonov, Andrey V., Kutsev, Sergey I., Zinchenko, Rena A.
Published in International journal of molecular sciences (15.06.2022)
Published in International journal of molecular sciences (15.06.2022)
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Journal Article
Analysis of genotype–phenotype correlations in PAX6-associated aniridia
Vasilyeva, Tatyana A., Marakhonov, Andrey V., Voskresenskaya, Anna A., Kadyshev, Vitaly V., Käsmann-Kellner, Barbara, Sukhanova, Natella V., Katargina, Lyudmila A., Kutsev, Sergey I., Zinchenko, Rena A.
Published in Journal of medical genetics (01.04.2021)
Published in Journal of medical genetics (01.04.2021)
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Journal Article
Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay
Filatova, Alexandra Yu, Vasilyeva, Tatiana A, Marakhonov, Andrey V, Voskresenskaya, Anna A, Zinchenko, Rena A, Skoblov, Mikhail Yu
Published in European journal of human genetics : EJHG (01.03.2019)
Published in European journal of human genetics : EJHG (01.03.2019)
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Journal Article
The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania
Ionova, Sofya A, Murtazina, Aysylu F, Marakhonov, Andrey A, Shchagina, Olga A, Ryadninskaya, Nina V, Tebieva, Inna S, Kadyshev, Vitaly V, Borovikov, Artem O, Ginter, Evgeny K, Kutsev, Sergey I, Zinchenko, Rena A
Published in International journal of molecular sciences (01.09.2024)
Published in International journal of molecular sciences (01.09.2024)
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Journal Article
Major Contribution of c.[1622T>C;3113C>T] Complex Allele and c.5882G>A Variant in ABCA4-Related Retinal Dystrophy in an Eastern European Population
Kadyshev, Vitaly V., Alekseeva, Ekaterina A., Strelnikov, Vladimir V., Stepanova, Anna A., Polyakov, Alexander V., Marakhonov, Andrey V., Kutsev, Sergey I., Zinchenko, Rena A.
Published in International journal of molecular sciences (12.11.2023)
Published in International journal of molecular sciences (12.11.2023)
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Journal Article
Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94) and Chromosome 21 Trisomy in the Same Patient
Vasilyeva, Tatyana A., Sukhanova, Natella V., Marakhonov, Andrey V., Kuzina, Natalia Yu, Shilova, Nadezhda V., Kadyshev, Vitaly V., Kutsev, Sergey I., Zinchenko, Rena A.
Published in International journal of molecular sciences (01.11.2023)
Published in International journal of molecular sciences (01.11.2023)
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Journal Article
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene
Tebieva, Inna S, Mishakova, Polina V, Gabisova, Yulia V, Khokhova, Alana V, Kaloeva, Tamara G, Marakhonov, Andrey V, Shchagina, Olga A, Polyakov, Alexander V, Ginter, Evgeny K, Kutsev, Sergey I, Zinchenko, Rena A
Published in International journal of molecular sciences (01.05.2024)
Published in International journal of molecular sciences (01.05.2024)
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Journal Article
Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome
Marakhonov, Andrey V, Vasilyeva, Tatyana A, Minzhenkova, Marina E, Sukhanova, Natella V, Sparber, Peter A, Andreeva, Natalya A, Teleshova, Margarita V, Baybagisova, Fatima K-M, Shilova, Nadezhda V, Kutsev, Sergey I, Zinchenko, Rena A
Published in International journal of molecular sciences (01.12.2023)
Published in International journal of molecular sciences (01.12.2023)
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Journal Article
High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients
Petrova, Nika V, Kashirskaya, Nataliya Y, Vasilyeva, Tatyana A, Balinova, Natalia V, Marakhonov, Andrey V, Kondratyeva, Elena I, Zhekaite, Elena K, Voronkova, Anna Y, Kutsev, Sergey I, Zinchenko, Rena A
Published in BMC genomics (01.04.2022)
Published in BMC genomics (01.04.2022)
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Journal Article
Upstream ORF frameshift variants in the PAX6 5ʹUTR cause congenital aniridia
Filatova, Alexandra Y., Vasilyeva, Tatyana A., Marakhonov, Andrey V., Sukhanova, Natella V., Voskresenskaya, Anna A., Zinchenko, Rena A., Skoblov, Mikhail Y.
Published in Human mutation (01.08.2021)
Published in Human mutation (01.08.2021)
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Journal Article
High carrier frequency of a nonsense p.Trp230 variant in HSD3B2 gene in Ossetians
Makretskaya, Nina, Kalinchenko, Natalia, Tebieva, Inna, Ionova, Sofya, Zinchenko, Rena, Marakhonov, Andrey, Tiulpakov, Anatoly
Published in Frontiers in endocrinology (Lausanne) (16.05.2023)
Published in Frontiers in endocrinology (Lausanne) (16.05.2023)
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Journal Article
Comprehensive Assessment of CFTR Modulators' Therapeutic Efficiency for N1303K Variant
Efremova, Anna, Kashirskaya, Nataliya, Krasovskiy, Stanislav, Melyanovskaya, Yuliya, Krasnova, Maria, Mokrousova, Diana, Bulatenko, Nataliya, Kondratyeva, Elena, Makhnach, Oleg, Bukharova, Tatiana, Zinchenko, Rena, Kutsev, Sergey, Goldshtein, Dmitry
Published in International journal of molecular sciences (27.02.2024)
Published in International journal of molecular sciences (27.02.2024)
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Journal Article
The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene
Ionova, Sofya A., Murtazina, Aysylu F., Tebieva, Inna S., Getoeva, Zalina K., Dadali, Elena L., Chausova, Polina A., Shchagina, Olga A., Marakhonov, Andrey V., Kutsev, Sergey I., Zinchenko, Rena A.
Published in International journal of molecular sciences (12.10.2022)
Published in International journal of molecular sciences (12.10.2022)
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Journal Article
Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia-Alania, Case Series Report
Vasilyeva, Tatyana A, Marakhonov, Andrey V, Tebieva, Inna S, Kadyshev, Vitaly V, Borovikov, Artem O, Markova, Zhanna G, Chukhrova, Alyona L, Ginter, Evgeny K, Kutsev, Sergey I, Zinchenko, Rena A
Published in International journal of molecular sciences (01.03.2023)
Published in International journal of molecular sciences (01.03.2023)
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Journal Article
An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser)
Vasilyeva, Tatyana A, Sukhanova, Natella V, Khalanskaya, Olga V, Marakhonov, Andrey V, Prokhorov, Nikolai S, Kadyshev, Vitaly V, Skryabin, Nikolay A, Kutsev, Sergey I, Zinchenko, Rena A
Published in Current issues in molecular biology (22.12.2023)
Published in Current issues in molecular biology (22.12.2023)
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Burkholderia cepacia in cystic fibrosis children and adolescents: overall survival and immune alterations
Shmarina, Galina, Pukhalskaya, Daria, Shmarin, Vassiliy, Semykin, Sergey, Avakyan, Lusine, Krasovsky, Stanislav, Goryainova, Anastasia, Kostyuk, Svetlana, Zinchenko, Rena, Kashirskaya, Nataliya
Published in Frontiers in cellular and infection microbiology (01.07.2024)
Published in Frontiers in cellular and infection microbiology (01.07.2024)
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Complex Diagnostics of Non-Specific Intellectual Developmental Disorder
Levchenko, Olga, Dadali, Elena, Bessonova, Ludmila, Demina, Nina, Rudenskaya, Galina, Matyushchenko, Galina, Markova, Tatiana, Anisimova, Inga, Semenova, Natalia, Shchagina, Olga, Ryzhkova, Oxana, Zinchenko, Rena, Galkina, Varvara, Voinova, Victoria, Nagieva, Sabina, Lavrov, Alexander
Published in International journal of molecular sciences (14.07.2022)
Published in International journal of molecular sciences (14.07.2022)
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Journal Article
LMO2 gene deletions significantly worsen the prognosis of Wilms’ tumor development in patients with WAGR syndrome
Marakhonov, Andrey V, Vasilyeva, Tatyana A, Voskresenskaya, Anna A, Sukhanova, Natella V, Kadyshev, Vitaly V, Kutsev, Sergey I, Zinchenko, Rena A
Published in Human molecular genetics (01.10.2019)
Published in Human molecular genetics (01.10.2019)
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Journal Article
Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation
Petrova, Nika, Balinova, Natalia, Marakhonov, Andrey, Vasilyeva, Tatyana, Kashirskaya, Nataliya, Galkina, Varvara, Ginter, Evgeniy, Kutsev, Sergey, Zinchenko, Rena
Published in Frontiers in genetics (16.06.2021)
Published in Frontiers in genetics (16.06.2021)
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Journal Article