Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World’s Population and the Human Genome

por Vasilyeva, Tatyana A., Marakhonov, Andrey V., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2022

Evaluation of orphan diseases global burden

por Makarova, Ekaterina V, Krysanov, Ivan S, Vasilyeva, Tatiana P, Vasiliev, Mikhail D, Zinchenko, Rena A
Publicado 2021

Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome

por Vasilyeva, Tatyana A., Marakhonov, Andrey V., Sukhanova, Natella V., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2020

Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus

por Gundorova, Polina, Zinchenko, Rena A., Kuznetsova, Irina A., Bliznetz, Elena A., Stepanova, Anna A., Polyakov, Aleksander V.
Publicado 2018

Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population

por Petrova, Nika V., Marakhonov, Andrey V., Balinova, Natalia V., Abrukova, Anna V., Konovalov, Fedor A., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2021

Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient

por Vasilyeva, Tatyana A., Sukhanova, Natella V., Marakhonov, Andrey V., Kuzina, Natalia Yu., Shilova, Nadezhda V., Kadyshev, Vitaly V., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2023

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

por Kadyshev, Vitaly V., Alekseeva, Ekaterina A., Strelnikov, Vladimir V., Stepanova, Anna A., Polyakov, Alexander V., Marakhonov, Andrey V., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2023

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

por Marakhonov, Andrey V., Konovalov, Fedor A., Makaov, Amin Kh., Vasilyeva, Tatyana A., Kadyshev, Vitaly V., Galkina, Varvara A., Dadali, Elena L., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2018

Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence

por 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.
Publicado 2021

Corrigendum: Epidemiology of rare hereditary diseases in the European part of Russia: Point and cumulative prevalence

por 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.
Publicado 2022

Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report

por 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.
Publicado 2023

The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene

por 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.
Publicado 2022

Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report

por Marakhonov, Andrey V., Mishina, Irina A., Kadyshev, Vitaly V., Repina, Svetlana A., Shurygina, Maria F., Shchagina, Olga A., Vasserman, Natalya N., Vasilyeva, Tatyana A., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2020

High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients

por 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.
Publicado 2022

Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia

por Marakhonov, Andrey V., Přechová, Magdalena, Konovalov, Fedor A., Filatova, Alexandra Yu., Zamkova, Maria A., Kanivets, Ilya V., Solonichenko, Vladimir G., Semenova, Natalia A., Zinchenko, Rena A., Treisman, Richard, Skoblov, Mikhail Yu.
Publicado 2021

Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study

por Vasilyeva, Tatyana A., Marakhonov, Andrey V., Voskresenskaya, Anna A., Kadyshev, Vitaly V., Sukhanova, Natella V., Minzhenkova, Marina E., Shilova, Nadezhda V., Latyshova, Alla A., Ginter, Evgeny K., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2023

Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients

por Petrova, Nika V., Kashirskaya, Nataliya Y., Vasilyeva, Tatyana A., Kondratyeva, Elena I., Zhekaite, Elena K., Voronkova, Anna Y., Sherman, Victoria D., Galkina, Varvara A., Ginter, Eugeny K., Kutsev, Sergey I., Marakhonov, Andrey V., Zinchenko, Rena A.
Publicado 2020

Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis

por 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
Publicado 2020

Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients

por Petrova, Nika V., Kashirskaya, Nataliya Y., Krasovskiy, Stanislav A., Amelina, Elena L., Kondratyeva, Elena I., Marakhonov, Andrey V., Vasilyeva, Tatyana A., Voronkova, Anna Y., Sherman, Victoria D., Ginter, Evgeny K., Kutsev, Sergey I., Zinchenko, Rena A.
Publicado 2020

A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region

por Vasilyeva, Tatyana A., Marakhonov, Andrey V., Minzhenkova, Marina E., Markova, Zhanna G., Petrova, Nika V., Sukhanova, Natella V., Koshkin, Philipp A., Pyankov, Denis V., Kanivets, Ilya V., Korostelev, Sergey A., Krynskaya, Irina A., Shilova, Nadezhda V., Kutsev, Sergey I., Kadyshev, Vitaly V., Zinchenko, Rena A.
Publicado 2020