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A Comparative Analysis of Models for AAV-Mediated Gene Therapy for Inherited Retinal Diseases.
Published in:
Cells (2073-4409), 2024, v. 13, n. 20, p. 1706, doi. 10.3390/cells13201706
By:
- Alsalloum, Almaqdad;
- Gornostal, Ekaterina;
- Mingaleva, Natalia;
- Pavlov, Roman;
- Kuznetsova, Ekaterina;
- Antonova, Ekaterina;
- Nadzhafova, Aygun;
- Kolotova, Daria;
- Kadyshev, Vitaly;
- Mityaeva, Olga;
- Volchkov, Pavel
Publication type:
Article
Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence.
Published in:
Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.678957
By:
- 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.
Publication type:
Article
Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia–Alania, Case Series Report.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 5, p. 4515, doi. 10.3390/ijms24054515
By:
- 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.
Publication type:
Article
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 1, p. 325, doi. 10.3390/ijms21010325
By:
- Zinchenko, Rena A.;
- Makaov, Amin Kh.;
- Marakhonov, Andrey V.;
- Galkina, Varvara A.;
- Kadyshev, Vitaly V.;
- El'chinova, Galina I.;
- Dadali, Elena L.;
- Mikhailova, Lyudmila K.;
- Petrova, Nika V.;
- Petrina, Nina E.;
- Vasilyeva, Tatyana A.;
- Gundorova, Polina;
- Polyakov, Alexander V.;
- Alexandrova, Oksana Y.;
- Kutsev, Sergey I.;
- Ginter, Eugeny K.
Publication type:
Article
Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report.
Published in:
BMC Medical Genetics, 2020, v. 21, n. 1, p. N.PAG, doi. 10.1186/s12881-020-01093-z
By:
- 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.
Publication type:
Article
Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders.
Published in:
BMC Medical Genomics, 2018, v. 11, p. 1, doi. 10.1186/s12920-018-0326-1
By:
- 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.
Publication type:
Article
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis.
Published in:
2020
By:
- 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
Publication type:
journal article
LMO2 gene deletions significantly worsen the prognosis of Wilms' tumor development in patients with WAGR syndrome.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 19, p. 3323, doi. 10.1093/hmg/ddz168
By:
- Marakhonov, Andrey V;
- Vasilyeva, Tatyana A;
- Voskresenskaya, Anna A;
- Sukhanova, Natella V;
- Kadyshev, Vitaly V;
- Kutsev, Sergey I;
- Zinchenko, Rena A
Publication type:
Article
A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region.
Published in:
BMC Medical Genomics, 2020, v. 13, n. 1, p. N.PAG, doi. 10.1186/s12920-020-00790-1
By:
- 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.
Publication type:
Article
Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania.
Published in:
PeerJ, 2023, p. 1, doi. 10.7717/peerj.14514
By:
- Petrova, Nika;
- Tebieva, Inna;
- Kadyshev, Vitaly;
- Getoeva, Zalina;
- Balinova, Natalia;
- Marakhonov, Andrey;
- Vasilyeva, Tatyana;
- Ginter, Evgeny;
- Kutsev, Sergey;
- Zinchenko, Rena
Publication type:
Article
Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6 -Associated Congenital Aniridia across the Russian Federation: A Nationwide Study.
Published in:
Genes, 2023, v. 14, n. 11, p. 2041, doi. 10.3390/genes14112041
By:
- 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.
Publication type:
Article
A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation.
Published in:
Genes, 2023, v. 14, n. 11, p. 2056, doi. 10.3390/genes14112056
By:
- Stepanova, Anna;
- Ogorodova, Natalya;
- Kadyshev, Vitaly;
- Shchagina, Olga;
- Kutsev, Sergei;
- Polyakov, Aleksandr
Publication type:
Article
Masks of Albinism: Clinical Spectrum of Hermansky–Pudlak Syndrome.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 20, p. 11260, doi. 10.3390/ijms252011260
By:
- Bobreshova, Anastasia M.;
- Ionova, Sofya A.;
- Kadyshev, Vitaly V.;
- Sukhanova, Natella V.;
- Viakhireva, Iuliia V.;
- Filatova, Alexandra Yu.;
- Zhurkova, Natalia V.;
- Sparber, Peter A.;
- Marakhonov, Andrey V.;
- Vasilyeva, Tatyana A.;
- Shchagina, Olga A.;
- Kutsev, Sergey I.;
- Zinchenko, Rena A.
Publication type:
Article
The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania.
Published in:
2024
By:
- 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.
Publication type:
Case Study
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.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 22, p. 16231, doi. 10.3390/ijms242216231
By:
- Kadyshev, Vitaly V.;
- Alekseeva, Ekaterina A.;
- Strelnikov, Vladimir V.;
- Stepanova, Anna A.;
- Polyakov, Alexander V.;
- Marakhonov, Andrey V.;
- Kutsev, Sergey I.;
- Zinchenko, Rena A.
Publication type:
Article
Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 21, p. 15527, doi. 10.3390/ijms242115527
By:
- Vasilyeva, Tatyana A.;
- Sukhanova, Natella V.;
- Marakhonov, Andrey V.;
- Kuzina, Natalia Yu.;
- Shilova, Nadezhda V.;
- Kadyshev, Vitaly V.;
- Kutsev, Sergey I.;
- Zinchenko, Rena A.
Publication type:
Article

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