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
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
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
Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (DES) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect
Marakhonov, Andrey V., Brodehl, Andreas, Myasnikov, Roman P., Sparber, Peter A., Kiseleva, Anna V., Kulikova, Olga V., Meshkov, Alexey N., Zharikova, Anastasia A., Koretsky, Serguey N., Kharlap, Maria S., Stanasiuk, Caroline, Mershina, Elena A., Sinitsyn, Valentin E., Shevchenko, Alexey O., Mozheyko, Natalia P., Drapkina, Oksana M., Boytsov, Sergey A., Milting, Hendrik, Skoblov, Mikhail Yu
Published in Human mutation (01.06.2019)
Published in Human mutation (01.06.2019)
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Journal Article
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis
Marakhonov, Andrey V, Voskresenskaya, Anna A, Ballesta, Maria Jose, Konovalov, Fedor A, Vasilyeva, Tatyana A, Blanco-Kelly, Fiona, Pozdeyeva, Nadezhda A, Kadyshev, Vitaly V, López-González, Vanesa, Guillen, Encarna, Ayuso, Carmen, Zinchenko, Rena A, Corton, Marta
Published in Orphanet journal of rare diseases (13.08.2020)
Published in Orphanet journal of rare diseases (13.08.2020)
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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
Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns
Efimova, Irina Yu, Zinchenko, Rena A., Marakhonov, Andrey V., Balinova, Natalya V., Mikhalchuk, Kristina A., Shchagina, Olga A., Polyakov, Alexander V., Mudaeva, Dzhaina A., Saydaeva, Djamila H., Matulevich, Svetlana A., Parshintseva, Polina D., Belyashova, Elena Yu, Yakubovskiy, Grigoriy I., Tebieva, Inna S., Gabisova, Yulia V., Irinina, Nataliya A., Jamschikova, Anna V., Nurgalieva, Liya R., Saifullina, Elena V., Nevmerzhitskaya, Kristina S., Belyaeva, Tatiana I., Romanova, Olga S., Voronin, Sergey V., Kutsev, Sergey I.
Published in Pediatric neurology (01.07.2024)
Published in Pediatric neurology (01.07.2024)
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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
Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence
Zinchenko, Rena A., Ginter, Eugeny K., Marakhonov, Andrey V., Petrova, Nika V., Kadyshev, Vitaly V., Vasilyeva, Tatyana P., Alexandrova, Oksana U., Polyakov, Alexander V., Kutsev, Sergey I.
Published in Frontiers in genetics (30.08.2021)
Published in Frontiers in genetics (30.08.2021)
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Journal Article
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs ( ATP6AP1 ), and Liver Transplantation
Semenova, Natalia, Shatokhina, Olga, Shchagina, Olga, Kamenec, Elena, Marakhonov, Andrey, Degtyareva, Anna, Taran, Natalia, Strokova, Tatiana
Published in International journal of molecular sciences (01.04.2023)
Published in International journal of molecular sciences (01.04.2023)
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Journal Article
Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene
Semenova, Natalia, Marakhonov, Andrey, Ampleeva, Maria, Kurkina, Marina, Baydakova, Galina, Skoblov, Mikhail, Taran, Natalia, Babak, Olga, Shchukina, Ekaterina, Strokova, Tatyana
Published in International journal of molecular sciences (01.12.2022)
Published in International journal of molecular sciences (01.12.2022)
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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
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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