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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
Ethnic Differences in the Frequency of CFTR Gene Mutations in Populations of the European and North Caucasian Part of the Russian Federation.
Published in:
Frontiers in Genetics, 2021, v. 11, p. 1, doi. 10.3389/fgene.2021.678374
By:
- Petrova, Nika;
- Balinova, Natalia;
- Marakhonov, Andrey;
- Vasilyeva, Tatyana;
- Kashirskaya, Nataliya;
- Galkina, Varvara;
- Ginter, Evgeniy;
- Kutsev, Sergey;
- Zinchenko, Rena
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
The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene.
Published in:
2022
By:
- 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.
Publication type:
Case Study
Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 14, p. 7764, doi. 10.3390/ijms23147764
By:
- Levchenko, Olga;
- Dadali, Elena;
- Bessonova, Ludmila;
- Demina, Nina;
- Rudenskaya, Galina;
- Matyushchenko, Galina;
- Markova, Tatiana;
- Anisimova, Inga;
- Semenova, Natalia;
- Shchagina, Olga;
- Ryzhkova, Oxana;
- Zinchenko, Rena;
- Galkina, Varvara;
- Voinova, Victoria;
- Nagieva, Sabina;
- Lavrov, Alexander
Publication type:
Article
Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World's Population and the Human Genome.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6690, doi. 10.3390/ijms23126690
By:
- Vasilyeva, Tatyana A.;
- Marakhonov, Andrey V.;
- 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
Evaluation of orphan diseases global burden.
Published in:
European Journal of Translational Myology, 2021, v. 31, n. 2, p. 1, doi. 10.4081/ejtm.2021.9610
By:
- Makarova, Ekaterina V.;
- Krysanov, Ivan S.;
- Vasilyeva, Tatiana P.;
- Vasiliev, Mikhail D.;
- Zinchenko, Rena A.
Publication type:
Article
Burkholderia cepacia in cystic fibrosis children and adolescents: overall survival and immune alterations.
Published in:
Frontiers in Cellular & Infection Microbiology, 2024, p. 1, doi. 10.3389/fcimb.2024.1374318
By:
- Shmarina, Galina;
- Pukhalskaya, Daria;
- Shmarin, Vassiliy;
- Semykin, Sergey;
- Avakyan, Lusine;
- Krasovsky, Stanislav;
- Goryainova, Anastasia;
- Kostyuk, Svetlana;
- Zinchenko, Rena;
- Kashirskaya, Nataliya
Publication type:
Article
High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Published in:
Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1146768
By:
- Makretskaya, Nina;
- Kalinchenko, Natalia;
- Tebieva, Inna;
- Ionova, Sofya;
- Zinchenko, Rena;
- Marakhonov, Andrey;
- Tiulpakov, Anatoly
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
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
Analysis of Polymorphism of Uniparental Markers in Reindeer-Herding Populations: The Tozhu Tuvans of Russia and The Tsaatans Of Mongolia.
Published in:
Collegium Antropologicum, 2022, v. 46, n. 2, p. 79, doi. 10.5671/ca.46.2.1
By:
- Balinova, Natalia;
- Khomyakova, Irina;
- Ayyzhi, Elena;
- Dzhaubermezov, Murat;
- Litvinov, Sergey;
- Khusnutdinova, Elza;
- El'chinova, Galina;
- Zinchenko, Rena;
- Spitsyna, Nailya;
- Parik, Jüri;
- Reidla, Maere;
- Rootsi, Siiri
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
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
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia.
Published in:
Clinical Genetics, 2021, v. 99, n. 5, p. 673, doi. 10.1111/cge.13926
By:
- 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.
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
A Clinical and Molecular Analysis of Branchio-Oculo-Facial Syndrome Patients in Russia Revealed New Mutations in TFAP2A.
Published in:
Annals of Human Genetics, 2015, v. 79, n. 2, p. 148, doi. 10.1111/ahg.12098
By:
- Meshcheryakova, Tatiana I.;
- Zinchenko, Rena A.;
- Vasilyeva, Tatiana A.;
- Marakhonov, Andrey V.;
- Zhylina, Svetlana S.;
- Petrova, Nika V.;
- Kozhanova, Tatiana V.;
- Belenikin, Maxim S.;
- Petrin, Alexander N.;
- Mutovin, Gennady R.
Publication type:
Article
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 4, p. 1, doi. 10.1007/s10875-024-01691-z
By:
- Marakhonov, Andrey V.;
- Efimova, Irina Yu.;
- Mukhina, Anna A.;
- Zinchenko, Rena A.;
- Balinova, Natalya V.;
- Rodina, Yulia;
- Pershin, Dmitry;
- Ryzhkova, Oxana P.;
- Orlova, Anna A.;
- Zabnenkova, Viktoriia V.;
- Cherevatova, Tatiana B.;
- Beskorovainaya, Tatiana S.;
- Shchagina, Olga A.;
- Polyakov, Alexander V.;
- Markova, Zhanna G.;
- Minzhenkova, Marina E.;
- Shilova, Nadezhda V.;
- Larin, Sergey S.;
- Khadzhieva, Maryam B.;
- Dudina, Ekaterina S.
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
Common Variants in the TYR Gene with Unclear Pathogenicity as the Cause of Oculocutaneous Albinism in a Cohort of Russian Patients.
Published in:
Biomedicines, 2024, v. 12, n. 10, p. 2234, doi. 10.3390/biomedicines12102234
By:
- Shchagina, Olga;
- Stepanova, Anna;
- Mishakova, Polina;
- Kadyshev, Vitaliy;
- Demina, Nina;
- Bessonova, Ludmila;
- Ionova, Sofya;
- Guseva, Daria;
- Marakhonov, Andrey;
- Zinchenko, Rena;
- Kutsev, Sergey;
- Polyakov, Aleksander
Publication type:
Article
Upstream ORF frameshift variants in the PAX6 5ʹUTR cause congenital aniridia.
Published in:
Human Mutation, 2021, v. 42, n. 8, p. 1053, doi. 10.1002/humu.24248
By:
- Filatova, Alexandra Y.;
- Vasilyeva, Tatyana A.;
- Marakhonov, Andrey V.;
- Sukhanova, Natella V.;
- Voskresenskaya, Anna A.;
- Zinchenko, Rena A.;
- Skoblov, Mikhail Y.
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 and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel.
Published in:
Genes, 2023, v. 14, n. 9, p. 1705, doi. 10.3390/genes14091705
By:
- Kondratyeva, Elena;
- Melyanovskaya, Yuliya;
- Efremova, Anna;
- Krasnova, Mariya;
- Mokrousova, Diana;
- Bulatenko, Nataliya;
- Petrova, Nika;
- Polyakov, Alexander;
- Adyan, Tagui;
- Kovalskaia, Valeriia;
- Bukharova, Tatiana;
- Marakhonov, Andrey;
- Zinchenko, Rena;
- Zhekaite, Elena;
- Buhonin, Artem;
- Goldshtein, Dmitry
Publication type:
Article
Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant.
Published in:
Genes, 2021, v. 13, n. 6, p. 837, doi. 10.3390/genes12060837
By:
- Kondratyeva, Elena;
- Bukharova, Tatyana;
- Efremova, Anna;
- Melyanovskaya, Yuliya;
- Bulatenko, Natalia;
- Davydenko, Ksenia;
- Filatova, Alexandra;
- Skoblov, Mikhail;
- Krasovsky, Stanislav;
- Petrova, Nika;
- Polyakov, Alexander;
- Adyan, Tagui;
- Amelina, Elena;
- Shadrina, Vera;
- Zhekaite, Elena;
- Zodbinova, Aysa;
- Chernyak, Alexander;
- Zinchenko, Rena;
- Kutsev, Sergei;
- Goldshtein, Dmitry
Publication type:
Article
Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.
Published in:
Genes, 2021, v. 13, n. 6, p. 820, doi. 10.3390/genes12060820
By:
- Petrova, Nika V.;
- Marakhonov, Andrey V.;
- Balinova, Natalia V.;
- Abrukova, Anna V.;
- Konovalov, Fedor A.;
- 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
Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome.
Published in:
Genes, 2020, v. 11, n. 7, p. 812, doi. 10.3390/genes11070812
By:
- Vasilyeva, Tatyana A.;
- Marakhonov, Andrey V.;
- Sukhanova, Natella V.;
- Kutsev, Sergey I.;
- Zinchenko, Rena A.
Publication type:
Article
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Published in:
Genes, 2020, v. 11, n. 5, p. 554, doi. 10.3390/genes11050554
By:
- 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.
Publication type:
Article
Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.
Published in:
PLoS ONE, 2018, v. 13, n. 8, p. 1, doi. 10.1371/journal.pone.0201489
By:
- Gundorova, Polina;
- Zinchenko, Rena A.;
- Kuznetsova, Irina A.;
- Bliznetz, Elena A.;
- Stepanova, Anna A.;
- Polyakov, Aleksander V.
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
A Rare Case of TP63 -Associated Lymphopenia Revealed by Newborn Screening Using TREC.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 19, p. 10844, doi. 10.3390/ijms251910844
By:
- Marakhonov, Andrey;
- Serebryakova, Elena;
- Mukhina, Anna;
- Vechkasova, Anastasia;
- Prokhorov, Nikolai;
- Efimova, Irina;
- Balinova, Natalia;
- Lobenskaya, Anastasia;
- Vasilyeva, Tatyana;
- Zabnenkova, Victoria;
- Ryzhkova, Oxana;
- Rodina, Yulia;
- Pershin, Dmitry;
- Soloveva, Nadezhda;
- Fomenko, Anna;
- Saydaeva, Djamila;
- Ibisheva, Aset;
- Irbaieva, Taisiya;
- Koroteev, Alexander;
- Zinchenko, Rena
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
Comprehensive Assessment of CFTR Modulators' Therapeutic Efficiency for N1303K Variant.
Published in:
International Journal of Molecular Sciences, 2024, v. 25, n. 5, p. 2770, doi. 10.3390/ijms25052770
By:
- Efremova, Anna;
- Kashirskaya, Nataliya;
- Krasovskiy, Stanislav;
- Melyanovskaya, Yuliya;
- Krasnova, Maria;
- Mokrousova, Diana;
- Bulatenko, Nataliya;
- Kondratyeva, Elena;
- Makhnach, Oleg;
- Bukharova, Tatiana;
- Zinchenko, Rena;
- Kutsev, Sergey;
- Goldshtein, Dmitry
Publication type:
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.
Published in:
2023
By:
- 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.
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
High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients.
Published in:
BMC Genomics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12864-022-08466-z
By:
- 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.
Publication type:
Article

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