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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
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
Published in:
Human Genetics, 2000, v. 106, n. 3, p. 259, doi. 10.1007/s004390000246
By:
- Dörk, Thilo;
- Macek Jr., Milan;
- Mekus, Frauke;
- Tümmler, Burkhard;
- Tzountzouris, John;
- Casals, Teresa;
- Krebsová, Alice;
- Koudová, Monika;
- Sakmaryová, Iva;
- Macek Sr., Milan;
- Vávrová, Vecaron;ra;
- Zemková, Dana;
- Ginter, Evgeny;
- Petrova, Nica V.;
- Ivaschenko, Tatiana;
- Baranov, Vladislav;
- Witt, Michal;
- Pogorzelski, Andrzej;
- Bal, Jerzy;
- Zékanowsky, Cesary
Publication type:
Article
Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect.
Published in:
European Journal of Human Genetics, 2009, v. 17, n. 5, p. 664, doi. 10.1038/ejhg.2008.234
By:
- Bliznetz, Elena A.;
- Tverskaya, Svetlana M.;
- Zinchenko, Rena A.;
- Abrukova, Anna V.;
- Savaskina, Ekaterina N.;
- Nikulin, Maxim V.;
- Kirillov, Alexander G.;
- Ginter, Evgeny K.;
- Polyakov, Alexander V.
Publication type:
Article
Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients.
Published in:
Journal of Medical Science, 2020, v. 89, n. 1, p. 1, doi. 10.20883/medical.383
By:
- Petrova, Nika V.;
- Kashirskaya, Nataliya Y.;
- Vasilyeva, Tatyana A.;
- Kondratyeva, Elenai I.;
- Marakhonov, Andrey V.;
- Macek Jr, Milan;
- Ginter, Evgeny K.;
- Kutsev, Sergey I.;
- Zinchenko, Rena A.
Publication type:
Article
Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.
Published in:
Clinical Genetics, 2019, v. 95, n. 3, p. 444, doi. 10.1111/cge.13477
By:
- Petrova, Nika V.;
- Marakhonov, Andrey V.;
- Vasilyeva, Tatiana A.;
- Kashirskaya, Natalya Y.;
- Ginter, Evgeny K.;
- Kutsev, Sergey I.;
- 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
Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.
Published in:
Genes, 2020, v. 11, n. 10, p. 1137, doi. 10.3390/genes11101137
By:
- 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.
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
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 9, p. 4598, doi. 10.3390/ijms25094598
By:
- 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.
Publication type:
Article

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