Analysis of discordant Affymetrix probesets casts serious doubt on idea of microarray data reutilization

por Marakhonov, Andrey, Sadovskaya, Nataliya, Antonov, Ivan, Baranova, Ancha, Skoblov, Mikhail
Publicado 2014

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

High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians

por Makretskaya, Nina, Kalinchenko, Natalia, Tebieva, Inna, Ionova, Sofya, Zinchenko, Rena, Marakhonov, Andrey, Tiulpakov, Anatoly
Publicado 2023

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

Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation

por Semenova, Natalia, Shatokhina, Olga, Shchagina, Olga, Kamenec, Elena, Marakhonov, Andrey, Degtyareva, Anna, Taran, Natalia, Strokova, Tatiana
Publicado 2023

Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga–Ural Region

por Khidiyatova, Irina, Khidiyatova, Indira, Zinchenko, Rena, Marakhonov, Andrey, Karunas, Alexandra, Avkhadeeva, Svetlana, Aznzbaev, Marat, Khusnutdinova, Elza
Publicado 2023

A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder

por Semenova, Natalia A., Kurkina, Marina V., Marakhonov, Andrey V., Dadali, Elena L., Taran, Natalia N., Strokova, Tatyana V.
Publicado 2021

Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation

por Petrova, Nika, Balinova, Natalia, Marakhonov, Andrey, Vasilyeva, Tatyana, Kashirskaya, Nataliya, Galkina, Varvara, Ginter, Evgeniy, Kutsev, Sergey, Zinchenko, Rena
Publicado 2021

Pro-apoptotic and antiproliferative activity of human KCNRG, a putative tumor suppressor in 13q14 region

por Birerdinc, Aybike, Nohelty, Elizabeth, Marakhonov, Andrey, Manyam, Ganiraju, Panov, Ivan, Coon, Stephanie, Nikitin, Eugene, Skoblov, Mikhail, Chandhoke, Vikas, Baranova, Ancha
Publicado 2009

Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene

por Semenova, Natalia, Marakhonov, Andrey, Ampleeva, Maria, Kurkina, Marina, Baydakova, Galina, Skoblov, Mikhail, Taran, Natalia, Babak, Olga, Shchukina, Ekaterina, Strokova, Tatyana
Publicado 2022

Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia–Alania

por Petrova, Nika, Tebieva, Inna, Kadyshev, Vitaly, Getoeva, Zalina, Balinova, Natalia, Marakhonov, Andrey, Vasilyeva, Tatyana, Ginter, Evgeny, Kutsev, Sergey, Zinchenko, Rena
Publicado 2023

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

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies

por Sharova, Margarita, Markova, Tatyana, Sumina, Maria, Petukhova, Marina, Bulakh, Maria, Ryzhkova, Oxana, Nagornova, Tatyana, Ionova, Sofya, Marakhonov, Andrey, Dadali, Elena, Kutsev, Sergey
Publicado 2023

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease

por Semenova, Natalia, Kamenets, Elena, Annenkova, Eleonora, Marakhonov, Andrey, Gusarova, Elena, Demina, Nina, Guseva, Daria, Anisimova, Inga, Degtyareva, Anna, Taran, Natalia, Strokova, Tatiana, Zakharova, Ekaterina
Publicado 2023

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

Complex Transposon Insertion as a Novel Cause of Pompe Disease

por Bychkov, Igor, Baydakova, Galina, Filatova, Alexandra, Migiaev, Ochir, Marakhonov, Andrey, Pechatnikova, Nataliya, Pomerantseva, Ekaterina, Konovalov, Fedor, Ampleeva, Maria, Kaimonov, Vladimir, Skoblov, Mikhail, Zakharova, Ekaterina
Publicado 2021

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