Andrey A Marakhonov (A V Marakhonov, Andrey Marakhonov, Andrey V Marakhonov)

Scopus Author ID ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 59

Top Venues

International journal of molecular sciences

Genes

Current issues in molecular biology

Journal of clinical immunology

Mediko-geneticheskiy nauchniy centr

Mediko-geneticheskiy nauchniy centr (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Mediko-geneticheskiy nauchniy centr Jul 01 2013

Russia

Senior Research Scientist :: Laboratory of Genetic Epidemiology

Far Eastern Federal University

Russia

Senior Research Scientist

Moscow Institute of Physics and Technology (State University)

Russia

Senior Research Scientist :: Laboratory of Functional Analysis of the Genome

Mediko-geneticheskiy nauchniy centr Oct 01 2006 - Jun 30 2013

Russia

Research Scientist :: Laboratory of Genetic Epidemiology

Institut obsej genetiki imeni N I Vavilova RAN Sep 01 2004 - Jun 20 2006

Russia

Junior Research Scientist :: Laboratory of functional genomics

Education History

Mediko-geneticheskiy nauchniy centr

Russia

PHD

Moskovskij gosudarstvennyj universitet imeni M V Lomonosova Biologiceskij fakul'tet

Russia

MSC :: Depatrment of Biology

Publications

Maria Akhkiamova, Aleksander Polyakov, Andrey A Marakhonov, Sergey Voronin, Elena Saifullina, Zulfiia Vafina, Kristina Michalchuk, Svetlana Braslavskaya, Alena Chukhrova, Nina Ryadninskaya, Sergey Kutsev, Olga A Shchagina
Rare Variants of the SMN1 Gene Detected during Neonatal Screening. Genes 15 (7) (2024)
Andrey A Marakhonov, Irina Yu Efimova, Anna A Mukhina, Rena A Zinchenko, Natalia V Balinova, Yulia Rodina, Dmitriy Pershin, Oxana P Ryzhkova, Anna A Orlova, Viktoriia V Zabnenkova, Tatiana B Cherevatova, Tatiana S Beskorovainaya, Olga A Shchagina, Alexander V Polyakov, Zhanna G Markova, Marina E Minzhenkova, Nadezhda V Shilova, Sergey S Larin, Maryam B Khadzhieva, Ekaterina S Dudina, Ekaterina V Kalinina, Dzhaina A Mudaeva, Djamila H Saydaeva, Svetlana A Matulevich, Elena Yu Belyashova, Grigoriy I Yakubovskiy, Inna S Tebieva, Yulia V Gabisova, Nataliya A Irinina, Liya R Nurgalieva, Elena V Saifullina, Tatiana I Belyaeva, Olga S Romanova, Sergey V Voronin, Anna Shcherbina, Sergey I Kutsev
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns. Journal of clinical immunology 44 (4) (2024)
Inna S Tebieva, Polina V Mishakova, Yulia V Gabisova, Alana V Khokhova, Tamara G Kaloeva, Andrey A Marakhonov, Olga A Shchagina, Alexander V Polyakov, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. International journal of molecular sciences 25 (9) (2024)
Andrey A Marakhonov, Irina Yu Efimova, Anna A Mukhina, Rena A Zinchenko, Natalia V Balinova, Yulia Rodina, Dmitriy Pershin, Oxana P Ryzhkova, Anna A Orlova, Viktoriia V Zabnenkova, Tatiana B Cherevatova, Tatiana S Beskorovainaya, Olga A Shchagina, Alexander V Polyakov, Zhanna G Markova, Marina E Minzhenkova, Nadezhda V Shilova, Sergey S Larin, Maryam B Khadzhieva, Ekaterina S Dudina, Ekaterina V Kalinina, Dzhaina A Mudaeva, Djamila H Saydaeva, Svetlana A Matulevich, Elena Yu Belyashova, Grigoriy I Yakubovskiy, Inna S Tebieva, Yulia V Gabisova, Nataliya A Irinina, Liya R Nurgalieva, Elena V Saifullina, Tatiana I Belyaeva, Olga S Romanova, Sergey V Voronin, Anna Shcherbina, Sergey I Kutsev
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns. Journal of clinical immunology 44 (4) (2024)
Inna S Tebieva, Polina V Mishakova, Yulia V Gabisova, Alana V Khokhova, Tamara G Kaloeva, Andrey A Marakhonov, Olga A Shchagina, Alexander V Polyakov, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. International journal of molecular sciences 25 (9) (2024)
Sofya A Ionova, Aysylu F Murtazina, Andrey A Marakhonov, Olga A Shchagina, Nina V Ryadninskaya, Inna S Tebieva, Vitaly V Kadyshev, Artem O Borovikov, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
The Study of the Inheritance Mechanisms of Myotonic Dystrophy Type 1 (DM1) in Families from the Republic of North Ossetia-Alania. International journal of molecular sciences 25 (17) (2024)
Maria Akhkiamova, Aleksander Polyakov, Andrey A Marakhonov, Sergey Voronin, Elena Saifullina, Zulfiia Vafina, Kristina Michalchuk, Svetlana Braslavskaya, Alena Chukhrova, Nina Ryadninskaya, Sergey Kutsev, Olga A Shchagina
Rare Variants of the SMN1 Gene Detected during Neonatal Screening. Genes 15 (7) (2024)
Inna S Tebieva, Polina V Mishakova, Yulia V Gabisova, Alana V Khokhova, Tamara G Kaloeva, Andrey A Marakhonov, Olga A Shchagina, Alexander V Polyakov, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Genetic Landscape and Clinical Features of Hyperphenylalaninemia in North Ossetia-Alania: High Frequency of P281L and P211T Genetic Variants in the PAH Gene. International journal of molecular sciences 25 (9) (2024)
Maria Akhkiamova, Aleksander Polyakov, Andrey A Marakhonov, Sergey Voronin, Elena Saifullina, Zulfiia Vafina, Kristina Michalchuk, Svetlana Braslavskaya, Alena Chukhrova, Nina Ryadninskaya, Sergey Kutsev, Olga A Shchagina
Rare Variants of the SMN1 Gene Detected during Neonatal Screening. Genes 15 (7) (2024)
Maria Akhkiamova, Aleksander Polyakov, Andrey A Marakhonov, Sergey Voronin, Elena Saifullina, Zulfiia Vafina, Kristina Michalchuk, Svetlana Braslavskaya, Alena Chukhrova, Nina Ryadninskaya, Sergey Kutsev, Olga A Shchagina
Rare Variants of the SMN1 Gene Detected during Neonatal Screening. Genes 15 (7) (2024)
Andrey A Marakhonov, Irina Yu Efimova, Anna A Mukhina, Rena A Zinchenko, Natalia V Balinova, Yulia Rodina, Dmitriy Pershin, Oxana P Ryzhkova, Anna A Orlova, Viktoriia V Zabnenkova, Tatiana B Cherevatova, Tatiana S Beskorovainaya, Olga A Shchagina, Alexander V Polyakov, Zhanna G Markova, Marina E Minzhenkova, Nadezhda V Shilova, Sergey S Larin, Maryam B Khadzhieva, Ekaterina S Dudina, Ekaterina V Kalinina, Dzhaina A Mudaeva, Djamila H Saydaeva, Svetlana A Matulevich, Elena Yu Belyashova, Grigoriy I Yakubovskiy, Inna S Tebieva, Yulia V Gabisova, Nataliya A Irinina, Liya R Nurgalieva, Elena V Saifullina, Tatiana I Belyaeva, Olga S Romanova, Sergey V Voronin, Anna Shcherbina, Sergey I Kutsev
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns. Journal of clinical immunology 44 (4) (2024)
Natalia A Semenova, Olga Mironovich, Olga A Shchagina, Elena Kamenec, Andrey A Marakhonov, Anna V Degtyareva, Natalia Taran, Tatiana Strokova
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs ( ATP6AP1 ), and Liver Transplantation. International journal of molecular sciences 24 (8) (2023)
Tatyana A Vasilyeva, Natella V Sukhanova, Andrey A Marakhonov, Natalia Yu Kuzina, Nadezhda V Shilova, Vitaly V Kadyshev, Sergey I Kutsev, Rena A Zinchenko
Co-Occurrence of Congenital Aniridia Due to Nonsense PAX6 Variant p.(Cys94*) and Chromosome 21 Trisomy in the Same Patient. International journal of molecular sciences 24 (21) (2023)
Tatyana A Vasilyeva, Natella V Sukhanova, Olga V Khalanskaya, Andrey A Marakhonov, Nikolai S Prokhorov, Vitaly V Kadyshev, Nikolay A Skryabin, Sergey I Kutsev, Rena A Zinchenko
An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser). Current issues in molecular biology 46 (1) (2023)
Nika Petrova, Inna Tebieva, Vitaly Kadyshev, Zalina Getoeva, Natalia Balinova, Andrey A Marakhonov, Tatyana Vasilyeva, Eugeny K Ginter, Sergey Kutsev, Rena A Zinchenko
Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania. PeerJ 11 (2023)
Tatyana A Vasilyeva, Natella V Sukhanova, Olga V Khalanskaya, Andrey A Marakhonov, Nikolai S Prokhorov, Vitaly V Kadyshev, Nikolay A Skryabin, Sergey I Kutsev, Rena A Zinchenko
An Unusual Presentation of Novel Missense Variant in PAX6 Gene: NM_000280.4:c.341A>G, p.(Asn114Ser). Current issues in molecular biology 46 (1) (2023)
Natalia A Semenova, Olga Mironovich, Olga A Shchagina, Elena Kamenec, Andrey A Marakhonov, Anna V Degtyareva, Natalia Taran, Tatiana Strokova
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs ( ATP6AP1 ), and Liver Transplantation. International journal of molecular sciences 24 (8) (2023)
Nika Petrova, Inna Tebieva, Vitaly Kadyshev, Zalina Getoeva, Natalia Balinova, Andrey A Marakhonov, Tatyana Vasilyeva, Eugeny K Ginter, Sergey Kutsev, Rena A Zinchenko
Hereditary etiology of non-syndromic sensorineural hearing loss in the Republic of North Ossetia-Alania. PeerJ 11 (2023)
Andrey A Marakhonov, Tatyana A Vasilyeva, Marina E Minzhenkova, Natella V Sukhanova, Peter A Sparber, Natalya A Andreeva, Margarita V Teleshova, Fatima K-M Baybagisova, Nadezhda V Shilova, Sergey I Kutsev, Rena A Zinchenko
Complex Chromosomal Rearrangement Involving Chromosomes 10 and 11, Accompanied by Two Adjacent 11p14.1p13 and 11p13p12 Deletions, Identified in a Patient with WAGR Syndrome. International journal of molecular sciences 24 (23) (2023)
Tatyana A Vasilyeva, Andrey A Marakhonov, Inna S Tebieva, Vitaly V Kadyshev, Artem O Borovikov, Zhanna G Markova, Alyona L Chukhrova, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia-Alania, Case Series Report. International journal of molecular sciences 24 (5) (2023)
Vitaly V Kadyshev, Ekaterina A Alekseeva, Vladimir V Strelnikov, Anna A Stepanova, Alexander V Polyakov, Andrey A Marakhonov, Sergey I Kutsev, Rena A Zinchenko
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. International journal of molecular sciences 24 (22) (2023)
Irina Khidiyatova, Indira Khidiyatova, Rena A Zinchenko, Andrey A Marakhonov, Alexandra S Karunas, Svetlana Avkhadeeva, Marat Aznzbaev, Elza K Khusnutdinova
Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region. Current issues in molecular biology 45 (6) (2023)
T A Vasilyeva, Vitaly V Kadyshev, Andrey A Marakhonov, Ilya V Kanivets, S A Korostelev, P A Koshkin, Denis V Pyankov, N V Petrova, Sergey I Kutsev, Rena A Zinchenko
[Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy]. Vestnik oftalmologii 139 (1) (2023)
Irina Khidiyatova, Indira Khidiyatova, Rena A Zinchenko, Andrey A Marakhonov, Alexandra S Karunas, Svetlana Avkhadeeva, Marat Aznzbaev, Elza K Khusnutdinova
Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region. Current issues in molecular biology 45 (6) (2023)
Natalia A Semenova, Elena A Kamenets, Eleonora Annenkova, Andrey A Marakhonov, Elena Gusarova, Nina Demina, Daria Guseva, Inga Anisimova, Anna V Degtyareva, Natalia Taran, Tatiana Strokova, Ekaterina Zakharova
Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease. International journal of molecular sciences 24 (14) (2023)
Elena I Kondratyeva, Yuliya Melyanovskaya, Anna Efremova, Mariya Krasnova, Diana Mokrousova, Nataliya Bulatenko, Nika Petrova, Alexander Polyakov, Tagui Adyan, Valeriia A Kovalskaia, Tatiana Borisovna Bukharova, Andrey A Marakhonov, Rena A Zinchenko, Elena Zhekaite, Artem Buhonin, Dmitry Goldshtein
Clinical and Genetic Characteristics of a Patient with Cystic Fibrosis with a Complex Allele [E217G;G509D] and Functional Evaluation of the CFTR Channel. Genes 14 (9) (2023)
Tatyana A Vasilyeva, Andrey A Marakhonov, Inna S Tebieva, Vitaly V Kadyshev, Artem O Borovikov, Zhanna G Markova, Alyona L Chukhrova, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia-Alania, Case Series Report. International journal of molecular sciences 24 (5) (2023)
Natalia A Semenova, Olga Mironovich, Olga A Shchagina, Elena Kamenec, Andrey A Marakhonov, Anna V Degtyareva, Natalia Taran, Tatiana Strokova
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs ( ATP6AP1 ), and Liver Transplantation. International journal of molecular sciences 24 (8) (2023)
Margarita Sharova, Tatiana Vladimirovna Markova, Maria Sumina, Marina Petukhova, Maria Bulakh, Oxana P Ryzhkova, Tatyana Nagornova, Sofya A Ionova, Andrey A Marakhonov, Elena Dadali, Sergey Kutsev
Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies. Genes 14 (8) (2023)
Tatyana A Vasilyeva, Andrey A Marakhonov, Anna A Voskresenskaya, Vitaly V Kadyshev, Natella V Sukhanova, Marina E Minzhenkova, Nadezhda V Shilova, Alla A Latyshova, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6 -Associated Congenital Aniridia across the Russian Federation: A Nationwide Study. Genes 14 (11) (2023)
Natalia A Semenova, Olga Mironovich, Olga A Shchagina, Elena Kamenec, Andrey A Marakhonov, Anna V Degtyareva, Natalia Taran, Tatiana Strokova
Clinical Presentation of a Patient with a Congenital Disorder of Glycosylation, Type IIs ( ATP6AP1 ), and Liver Transplantation. International journal of molecular sciences 24 (8) (2023)
Irina Khidiyatova, Indira Khidiyatova, Rena A Zinchenko, Andrey A Marakhonov, Alexandra S Karunas, Svetlana Avkhadeeva, Marat Aznzbaev, Elza K Khusnutdinova
Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region. Current issues in molecular biology 45 (6) (2023)
Tatyana A Vasilyeva, Andrey A Marakhonov, Inna S Tebieva, Vitaly V Kadyshev, Artem O Borovikov, Zhanna G Markova, Alyona L Chukhrova, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Genetic Heterogeneity of X-Linked Ichthyosis in the Republic of North Ossetia-Alania, Case Series Report. International journal of molecular sciences 24 (5) (2023)
Natalia A Semenova, Andrey A Marakhonov, Maria Ampleeva, Marina Kurkina, Galina Baydakova, Mikhail Skoblov, Natalia Taran, Olga Babak, Ekaterina Shchukina, Tatyana Strokova
Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene. International journal of molecular sciences 23 (23) (2022)
Natalia A Semenova, Andrey A Marakhonov, Maria Ampleeva, Marina Kurkina, Galina Baydakova, Mikhail Skoblov, Natalia Taran, Olga Babak, Ekaterina Shchukina, Tatyana Strokova
Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene. International journal of molecular sciences 23 (23) (2022)
Iuliia V Viakhireva, Natalia Kalinchenko, Evgeny V Vasilyev, Galina V Chistousova, Alexandra Yu Filatova, Andrey A Marakhonov, Petr M Rubtsov, Mikhail Yurevich Skoblov, Anatoly Tiulpakov
A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of mRNA. The Journal of clinical endocrinology and metabolism 107 (9) (2022)
Tatyana A Vasilyeva, Andrey A Marakhonov, Sergey I Kutsev, Rena A Zinchenko
Relative Frequencies of PAX6 Mutational Events in a Russian Cohort of Aniridia Patients in Comparison with the World's Population and the Human Genome. International journal of molecular sciences 23 (12) (2022)
Sofya A Ionova, Aysylu F Murtazina, Inna S Tebieva, Zalina K Getoeva, Elena L Dadali, Polina A Chausova, Olga A Shchagina, Andrey A Marakhonov, Sergey I Kutsev, Rena A Zinchenko
The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene. International journal of molecular sciences 23 (20) (2022)
Natalia A Semenova, Andrey A Marakhonov, Maria Ampleeva, Marina Kurkina, Galina Baydakova, Mikhail Skoblov, Natalia Taran, Olga Babak, Ekaterina Shchukina, Tatyana Strokova
Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene. International journal of molecular sciences 23 (23) (2022)
Natalia A Semenova, Andrey A Marakhonov, Maria Ampleeva, Marina Kurkina, Galina Baydakova, Mikhail Skoblov, Natalia Taran, Olga Babak, Ekaterina Shchukina, Tatyana Strokova
Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene. International journal of molecular sciences 23 (23) (2022)
Natalia A Semenova, Andrey A Marakhonov, Maria Ampleeva, Marina Kurkina, Galina Baydakova, Mikhail Skoblov, Natalia Taran, Olga Babak, Ekaterina Shchukina, Tatyana Strokova
Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene International journal of molecular sciences 23 (23) (2022)
Alexandra Yu Filatova, Tatyana A Vasilyeva, Andrey A Marakhonov, Natella V Sukhanova, Anna A Voskresenskaya, Rena A Zinchenko, Mikhail Y Skoblov
Upstream ORF frameshift variants in the PAX6 5'UTR cause congenital aniridia. Human mutation 42 (8) (2021)
I V Zolnikova, Vitaly V Kadyshev, Andrey A Marakhonov, Rena A Zinchenko, A B Cherniak, S V Milash, L V Kogoleva, Yu A Bobrovskaya, N S Kokoeva, I V Egorova, S Yu Rogova
[Fundus albipunctatus with mutations in the RDH5 gene (clinical case)]. Vestnik oftalmologii 137 (1) (2021)
Nika V Petrova, Andrey A Marakhonov, Natalia V Balinova, Anna V Abrukova, Fedor A Konovalov, Sergey I Kutsev, Rena A Zinchenko
Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population. Genes 12 (6) (2021)
Igor O Bychkov, Galina Baydakova, Alexandra Yu Filatova, Ochir Migiaev, Andrey A Marakhonov, Nataliya Pechatnikova, Ekaterina Pomerantseva, Fedor A Konovalov, Maria Ampleeva, Vladimir Kaimonov, Mikhail Yurevich Skoblov, Ekaterina Zakharova
Complex Transposon Insertion as a Novel Cause of Pompe Disease. International journal of molecular sciences 22 (19) (2021)
Andrey A Marakhonov, Magdalena Přechová, Fedor A Konovalov, Alexandra Yu Filatova, Maria A Zamkova, Ilya V Kanivets, Vladimir G Solonichenko, Natalia A Semenova, Rena A Zinchenko, Richard Treisman, Mikhail Yurevich Skoblov
Mutation in PHACTR1 associated with multifocal epilepsy with infantile spasms and hypsarrhythmia. Clinical genetics 99 (5) (2021)
Rena A Zinchenko, Amin Kh Makaov, Andrey A Marakhonov, Varvara A Galkina, Vitaly V Kadyshev, Galina I El'chinova, Elena L Dadali, Lyudmila K Mikhailova, Nika V Petrova, Nina E Petrina, Tatyana A Vasilyeva, Polina Gundorova, Alexander V Polyakov, Oksana Y Alexandrova, Sergey I Kutsev, Eugeny K Ginter
Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic. International journal of molecular sciences 21 (1) (2020)
N E Petrina, Andrey A Marakhonov, Rena A Zinchenko
[Presentation of a rare case of hereditary hearing loss with X-linked recessive inheritance associated with the POU3F4 gene]. Vestnik otorinolaringologii 85 (4) (2020)
Andrey A Marakhonov, Anna A Voskresenskaya, Maria Jose Ballesta, Fedor A Konovalov, Tatyana A Vasilyeva, Fiona Blanco-Kelly, Nadezhda A Pozdeyeva, Vitaly V Kadyshev, Vanesa López-González, Encarna Guillen, Carmen Ayuso, Rena A Zinchenko, Marta Corton
Expanding the phenotype of CRYAA nucleotide variants to a complex presentation of anterior segment dysgenesis. Orphanet journal of rare diseases 15 (1) (2020)
Tatyana A Vasilyeva, Andrey A Marakhonov, Anna A Voskresenskaya, Vitaly V Kadyshev, Barbara Käsmann-Kellner, Natella V Sukhanova, Lyudmila A Katargina, Sergey I Kutsev, Rena A Zinchenko
Analysis of genotype-phenotype correlations in PAX6-associated aniridia. Journal of medical genetics 58 (4) (2020)
Nika V Petrova, Nataliya Y Kashirskaya, Stanislav A Krasovskiy, Elena L Amelina, Elena I Kondratyeva, Andrey A Marakhonov, Tatyana A Vasilyeva, Anna Y Voronkova, Victoria D Sherman, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients. Genes 11 (10) (2020)
Andrey A Marakhonov, Irina A Mishina, Vitaly V Kadyshev, Svetlana A Repina, Maria F Shurygina, Olga A Shchagina, Natalya N Vasserman, Tatyana A Vasilyeva, Sergey I Kutsev, Rena A Zinchenko
Prenatal diagnosis of Norrie disease after whole exome sequencing of an affected proband during an ongoing pregnancy: a case report. BMC medical genetics 21 (Suppl 1) (2020)
Tatyana A Vasilyeva, Andrey A Marakhonov, Natella V Sukhanova, Sergey I Kutsev, Rena A Zinchenko
Preferentially Paternal Origin of De Novo 11p13 Chromosome Deletions Revealed in Patients with Congenital Aniridia and WAGR Syndrome. Genes 11 (7) (2020)
Tatyana A Vasilyeva, Andrey A Marakhonov, Marina E Minzhenkova, Zhanna G Markova, Nika V Petrova, Natella V Sukhanova, Philipp A Koshkin, Denis V Pyankov, Ilya V Kanivets, Sergey A Korostelev, Irina A Krynskaya, Nadezhda V Shilova, Sergey I Kutsev, Vitaly V Kadyshev, Rena A Zinchenko
A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region. BMC medical genomics 13 (Suppl 8) (2020)
Nika V Petrova, Nataliya Y Kashirskaya, Tatyana A Vasilyeva, Elena I Kondratyeva, Elena K Zhekaite, Anna Y Voronkova, Victoria D Sherman, Varvara A Galkina, Eugeny K Ginter, Sergey I Kutsev, Andrey A Marakhonov, Rena A Zinchenko
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients. Genes 11 (5) (2020)
Andrey A Marakhonov, Andreas Brodehl, Roman P Myasnikov, Peter A Sparber, Anna V Kiseleva, Olga V Kulikova, Alexey N Meshkov, Anastasia A Zharikova, Serguey N Koretsky, Anastasia Alexandrovna Zharikova, Caroline Stanasiuk, Elena A Mershina, Valentin E Sinitsyn, Alexey O Shevchenko, Natalia P Mozheyko, Oksana M Drapkina, Sergey A Boytsov, Andreas Brodehl, Mikhail Yurevich Skoblov
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. Human mutation 40 (6) (2019)
Nika V Petrova, Andrey A Marakhonov, Tatiana A Vasilyeva, Natalya Y Kashirskaya, Evgeny K Ginter, Sergey I Kutsev, Rena A Zinchenko
Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation. Clinical genetics 95 (3) (2018)
Alexandra Yu Filatova, Tatiana A Vasilyeva, Andrey A Marakhonov, Anna A Voskresenskaya, Rena A Zinchenko, Mikhail Yu Skoblov
Functional reassessment of PAX6 single nucleotide variants by in vitro splicing assay. European journal of human genetics : EJHG 27 (3) (2018)
T A Vasilyeva, A A Voskresenskaya, B Käsmann-Kellner, O V Khlebnikova, N A Pozdeyeva, G M Bayazutdinova, S I Kutsev, E K Ginter, E V Semina, Andrey A Marakhonov, R A Zinchenko
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. Clinical genetics 92 (6) (2017)

Andrey A Marakhonov.css-eqlu8i{font-size:small;padding-left:4px;} (A V Marakhonov, Andrey Marakhonov, Andrey V Marakhonov)

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Andrey A Marakhonov (A V Marakhonov, Andrey Marakhonov, Andrey V Marakhonov)