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Decreased TREC and KREC levels in newborns with trisomy 21.
Published in:
Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1468635
By:
- Marakhonov, Andrey;
- Mukhina, Anna;
- Vlasova, Elena;
- Efimova, Irina;
- Balinova, Natalya;
- Rodina, Yulia;
- Pershin, Dmitry;
- Markova, Zhanna;
- Minzhenkova, Marina;
- Shilova, Nadezhda;
- Mudaeva, Dzhaina;
- Saydaeva, Djamila;
- Irbaieva, Taisiya;
- Matulevich, Svetlana;
- Belyashova, Elena;
- Yakubovskiy, Grigoriy;
- Tebieva, Inna;
- Gabisova, Yulia;
- Ikaev, Murat;
- Irinina, Nataliya
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
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
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
Published in:
Clinical Genetics, 2017, v. 92, n. 6, p. 639, doi. 10.1111/cge.13019
By:
- Vasilyeva, T.A.;
- Voskresenskaya, A.A.;
- Käsmann-Kellner, B.;
- Khlebnikova, O.V.;
- Pozdeyeva, N.A.;
- Bayazutdinova, G.M.;
- Kutsev, S.I.;
- Ginter, E.K.;
- Semina, E.V.;
- Marakhonov, A.V.;
- Zinchenko, R.A.
Publication type:
Article
A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanocortin Deficiency Through SplicingMediated Decrease of mRNA.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 9, p. e3654, doi. 10.1210/clinem/dgac397
By:
- Viakhireva, Iuliia;
- Kalinchenko, Natalia;
- Vasilyev, Evgeny;
- Chistousova, Galina V.;
- Filatova, Alexandra;
- Marakhonov, Andrey;
- Rubtsov, Petr M.;
- Skoblov, Mikhail;
- Tiulpakov, Anatoly
Publication type:
Article
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs (ATP6AP1), and Liver Transplantation.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7449, doi. 10.3390/ijms24087449
By:
- Semenova, Natalia;
- Shatokhina, Olga;
- Shchagina, Olga;
- Kamenec, Elena;
- Marakhonov, Andrey;
- Degtyareva, Anna;
- Taran, Natalia;
- Strokova, Tatiana
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
Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 15026, doi. 10.3390/ijms232315026
By:
- Semenova, Natalia;
- Marakhonov, Andrey;
- Ampleeva, Maria;
- Kurkina, Marina;
- Baydakova, Galina;
- Skoblov, Mikhail;
- Taran, Natalia;
- Babak, Olga;
- Shchukina, Ekaterina;
- Strokova, Tatyana
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
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
Complex Transposon Insertion as a Novel Cause of Pompe Disease.
Published in:
2021
By:
- Bychkov, Igor;
- Baydakova, Galina;
- Filatova, Alexandra;
- Migiaev, Ochir;
- Marakhonov, Andrey;
- Pechatnikova, Nataliya;
- Pomerantseva, Ekaterina;
- Konovalov, Fedor;
- Ampleeva, Maria;
- Kaimonov, Vladimir;
- Skoblov, Mikhail;
- Zakharova, Ekaterina
Publication type:
Case Study
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
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
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
Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus.
Published in:
BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0785-z
By:
- Petrova, N. V.;
- Kashirskaya, N. Y.;
- Saydaeva, D. K.;
- Polyakov, A. V.;
- Adyan, T.A.;
- Simonova, O. I.;
- Gorinova, Y. V.;
- Kondratyeva, E. I.;
- Sherman, V. D.;
- Novoselova, O. G.;
- Vasilyeva, T. A.;
- Marakhonov, A. V.;
- Macek, M.;
- Ginter, E. K.;
- Zinchenko, R. A.
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
RANDTRAN: Random transcriptome sequence generator that accounts for partition specific features in eukaryotic mRNA datasets.
Published in:
Molecular Biology, 2014, v. 48, n. 5, p. 749, doi. 10.1134/S0026893314050021
By:
- Borzov, E.;
- Marakhonov, A.;
- Ivanov, M.;
- Drozdova, P.;
- Baranova, A.;
- Skoblov, M.
Publication type:
Article
Therapeutic siRNAs and nonviral systems for their delivery.
Published in:
Molecular Biology, 2012, v. 46, n. 3, p. 335, doi. 10.1134/S0026893312020069
By:
- Glebova, K.;
- Marakhonov, A.;
- Baranova, A.;
- Skoblov, M.
Publication type:
Article
Nonviral delivery systems for small interfering RNAs.
Published in:
Molecular Biology, 2012, v. 46, n. 3, p. 349, doi. 10.1134/S0026893312020070
By:
- Glebova, K.;
- Marakhonov, A.;
- Baranova, A.;
- Skoblov, M.
Publication type:
Article
Antisense regulation of human gene MAP3K13: True phenomenon or artifact?
Published in:
Molecular Biology, 2008, v. 42, n. 4, p. 514, doi. 10.1134/S0026893308040055
By:
- Marakhonov, A. V.;
- Baranova, A. V.;
- Skoblov, M. Yu.
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
Study of the Karachay Population Based on the Analysis of Ten Polymorphic DNA Loci.
Published in:
Russian Journal of Genetics, 2024, v. 60, n. 2, p. 180, doi. 10.1134/S102279542402011X
By:
- Petrova, N. V.;
- Marakhonov, A. V.;
- Balinova, N. V.;
- Vasilyeva, T. A.;
- El'chinova, G. I.;
- Ginter, E. K.;
- Zinchenko, R. A.
Publication type:
Article
Mild phenotype of CHATassociated congenital myasthenic syndrome: case series.
Published in:
Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2024.1280394
By:
- Murtazina, Aysylu;
- Borovikov, Artem;
- Marakhonov, Andrey;
- Sharkov, Artem;
- Sharkova, Inna;
- Mirzoyan, Alena;
- Kulikova, Sviatlana;
- Ganieva, Ralina;
- Zabnenkova, Viktoriia;
- Ryzhkova, Oksana;
- Nikitin, Sergey;
- Dadali, Elena;
- Kutsev, Sergey
Publication type:
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
The Load and Diversity of Monogenic Hereditary Pathology among the Child Population of Kirov Region.
Published in:
Russian Journal of Genetics, 2020, v. 56, n. 12, p. 1530, doi. 10.1134/S1022795420120157
By:
- Zinchenko, R. A.;
- Kadyshev, V. V.;
- Galkina, V. A.;
- El'chinova, G. I.;
- Marakhonov, A. V.;
- Alexandrova, O. Yu.;
- Kutsev, S. I.
Publication type:
Article
Clinical Population Genetics of Hereditary Diseases among Children of the Karachay-Cherkess Republic.
Published in:
Russian Journal of Genetics, 2019, v. 55, n. 8, p. 1033, doi. 10.1134/S1022795419080180
By:
- Zinchenko, R. A.;
- Kadyshev, V. V.;
- Galkina, V. A.;
- Dadali, E. L.;
- Mikhailova, L. K.;
- Marakhonov, A. V.;
- Petrova, N. V.;
- Petrina, N. E.;
- El'chinova, G. I.;
- Alexandrova, O. Yu.;
- Kutsev, S. I.;
- Ginter, E. K.
Publication type:
Article
Study of the Role of the Main Factors of Population Dynamics in the Mechanism of Differentiation and Formation of Diversity and Genetic Load of Hereditary Diseases in Subpopulations of the Karachay-Cherkess Republic.
Published in:
Russian Journal of Genetics, 2019, v. 55, n. 6, p. 738, doi. 10.1134/S1022795419060206
By:
- Zinchenko, R. A.;
- El'chinova, G. I.;
- Bikanov, R. A.;
- Marakhonov, A. V.;
- Kadyshev, V. V.;
- Kutsev, S. I.;
- Ginter, E. K.
Publication type:
Article
Russians of the Karachay-Cherkess Republic: Population Genetic Portrait.
Published in:
Russian Journal of Genetics, 2018, v. 54, n. 9, p. 1117, doi. 10.1134/S1022795418090077
By:
- El’chinova, G. I.;
- Makaov, A. H.-M.;
- Bikanov, R. A.;
- Petrin, A. N.;
- Marakhonov, A. V.;
- Kadyshev, V. V.;
- Ginter, E. K.;
- Zinchenko, R. A.
Publication type:
Article
PAX6 Gene Characteristic and Causative Role of PAX6 Mutations in Inherited Eye Pathologies.
Published in:
Russian Journal of Genetics, 2018, v. 54, n. 9, p. 995, doi. 10.1134/S1022795418090156
By:
- Vasilyeva, T. A.;
- Voskresenskaya, A. A.;
- Pozdeyeva, N. A.;
- Marakhonov, A. V.;
- Zinchenko, R. A.
Publication type:
Article
Diversity and Prevalence of Hereditary Diseases among Nogais of the Karachay-Cherkess Republic.
Published in:
Russian Journal of Genetics, 2018, v. 54, n. 7, p. 858, doi. 10.1134/S1022795418070165
By:
- Zinchenko, R. A.;
- Makaov, A. Kh.;
- Kadyshev, V. V.;
- Galkina, V. A.;
- Dadali, E. L.;
- Mikhailova, L. K.;
- Shurygina, M. F.;
- Marakhonov, A. V.;
- Petrova, N. V.;
- Petrina, N. E.;
- El’chinonva, G. I.;
- Gundorova, P.;
- Tanas, A. S.;
- Strelnikov, V. V.;
- Polyakov, A. V.;
- Ginter, E. K.
Publication type:
Article
Medical Genetic Study of Hereditary Diseases in Abazins of the Karachay-Cherkess Republic.
Published in:
Russian Journal of Genetics, 2018, v. 54, n. 6, p. 703, doi. 10.1134/S1022795418060170
By:
- Zinchenko, R. A.;
- Makaov, A. Kh.;
- Kadyshev, V. V.;
- Galkina, V. A.;
- Dadali, E. L.;
- Shurygina, M. F.;
- El’chinova, G. I.;
- Mikhailova, L. K.;
- Marakhonov, A. V.;
- Vasilyeva, T. A.;
- Petrova, N. V.;
- Gundorova, P.;
- Tanas, A. S.;
- Strelnikov, V. V.;
- Polyakov, A. V.;
- Ginter, E. K.
Publication type:
Article
Sodium Channelopathies: From Molecular Physiology towards Medical Genetics.
Published in:
Russian Journal of Genetics, 2018, v. 54, n. 1, p. 45, doi. 10.1134/S102279541801009X
By:
- Marakhonov, A.;
- Varenikov, G.;
- Skoblov, M.
Publication type:
Article
Hereditary Disorders in Circassians of the Karachay-Cherkess Republic.
Published in:
Russian Journal of Genetics, 2018, v. 54, n. 1, p. 83, doi. 10.1134/S1022795418010155
By:
- Zinchenko, R.;
- Makaov, A.;
- Galkina, V.;
- Dadali, E.;
- Khlebnikova, O.;
- El'chinova, G.;
- Mikhailova, L.;
- Marakhonov, A.;
- Vasilyeva, T.;
- Gundorova, P.;
- Tanas, A.;
- Strelnikov, V.;
- Polyakov, A.;
- Ginter, E.
Publication type:
Article
Clinical and genetic characteristics and diagnostic features of Landouzy-Dejerine facioscapulohumeral muscular dystrophy.
Published in:
Russian Journal of Genetics, 2017, v. 53, n. 6, p. 640, doi. 10.1134/S102279541706014X
By:
- Zernov, N.;
- Marakhonov, A.;
- Vyakhireva, J.;
- Guskova, A.;
- Dadali, E.;
- Skoblov, M.
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
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.
Published in:
Human Mutation, 2024, v. 2024, p. 1, doi. 10.1155/2024/8849348
By:
- Borovikov, Artem;
- Galeeva, Nailya;
- Marakhonov, Andrey;
- Murtazina, Aysylu;
- Kadnikova, Varvara;
- Davydenko, Kseniya;
- Orlova, Anna;
- Sparber, Peter;
- Markova, Tatiana;
- Orlova, Maria;
- Osipova, Darya;
- Nagornova, Tatyana;
- Semenova, Natalia;
- Levchenko, Olga;
- Filatova, Alexandra;
- Sharova, Margarita;
- Vasiluev, Peter;
- Kanivets, Ilya;
- Pyankov, Denis;
- Sharkov, Artem
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
Back Cover, Volume 40, Issue 6.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. ii, doi. 10.1002/humu.23796
By:
- Marakhonov, Andrey V.;
- Brodehl, Andreas;
- Myasnikov, Roman P.;
- Sparber, Peter A.;
- Kiseleva, Anna V.;
- Kulikova, Olga V.;
- Meshkov, Alexey N.;
- Zharikova, Anastasia A.;
- Koretsky, Serguey N.;
- Kharlap, Maria S.;
- Stanasiuk, Caroline;
- Mershina, Elena A.;
- Sinitsyn, Valentin E.;
- Shevchenko, Alexey O.;
- Mozheyko, Natalia P.;
- Drapkina, Oksana M.;
- Boytsov, Sergey A.;
- Milting, Hendrik;
- Skoblov, Mikhail Yu.
Publication type:
Article
Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (DES) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect.
Published in:
Human Mutation, 2019, v. 40, n. 6, p. 734, doi. 10.1002/humu.23747
By:
- Marakhonov, Andrey V.;
- Brodehl, Andreas;
- Myasnikov, Roman P.;
- Sparber, Peter A.;
- Kiseleva, Anna V.;
- Kulikova, Olga V.;
- Meshkov, Alexey N.;
- Zharikova, Anastasia A.;
- Koretsky, Serguey N.;
- Kharlap, Maria S.;
- Stanasiuk, Caroline;
- Mershina, Elena A.;
- Sinitsyn, Valentin E.;
- Shevchenko, Alexey O.;
- Mozheyko, Natalia P.;
- Drapkina, Oksana M.;
- Boytsov, Sergey A.;
- Milting, Hendrik;
- Skoblov, Mikhail Yu.
Publication type:
Article
Protein partners of KCTD proteins provide insights about their functional roles in cell differentiation and vertebrate development.
Published in:
BioEssays, 2013, v. 35, n. 7, p. 586, doi. 10.1002/bies.201300002
By:
- Skoblov, Mikhail;
- Marakhonov, Andrey;
- Marakasova, Ekaterina;
- Guskova, Anna;
- Chandhoke, Vikas;
- Birerdinc, Aybike;
- Baranova, Ancha
Publication type:
Article
Rare Variants of the SMN1 Gene Detected during Neonatal Screening.
Published in:
Genes, 2024, v. 15, n. 7, p. 956, doi. 10.3390/genes15070956
By:
- Akhkiamova, Maria;
- Polyakov, Aleksander;
- Marakhonov, Andrey;
- Voronin, Sergey;
- Saifullina, Elena;
- Vafina, Zulfiia;
- Michalchuk, Kristina;
- Braslavskaya, Svetlana;
- Chukhrova, Alena;
- Ryadninskaya, Nina;
- Kutsev, Sergey;
- Shchagina, Olga
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

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