Oxana P Ryzhkova (Oxana Ryzhkova, O P Ryzhkova, Oksana Ryzhkova)

ResearcherID ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 45

Top Topics

Top Venues

International journal of molecular sciences

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Journal of clinical immunology

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

Publications

Anna A Orlova, Daria Guseva, Nina Demina, Aleksander Polyakov, Oxana P Ryzhkova
Spectrum of Mutations in PTPN11 in Russian Cohort. Genes 15 (3) (2024)
Anna A Orlova, Daria Guseva, Nina Demina, Aleksander Polyakov, Oxana P Ryzhkova
Spectrum of Mutations in PTPN11 in Russian Cohort. Genes 15 (3) (2024)
Valeriia A Kovalskaia, Anastasiia L Kungurtseva, Fatima M Bostanova, Petr Andreevich Vasiluev, Vyacheslav Y Tabakov, Mariia D Orlova, Inna S Povolotskaya, Olga G Novoselova, Roman A Bikanov, Mariia A Akhyamova, Yulia V Tikhonovich, Anastasiia V Popovich, Alisa V Vitebskaya, Elena L Dadali, Oxana P Ryzhkova
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation. Genes 15 (2) (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)
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)
Valeriia A Kovalskaia, Anastasiia L Kungurtseva, Fatima M Bostanova, Petr Andreevich Vasiluev, Vyacheslav Y Tabakov, Mariia D Orlova, Inna S Povolotskaya, Olga G Novoselova, Roman A Bikanov, Mariia A Akhyamova, Yulia V Tikhonovich, Anastasiia V Popovich, Alisa V Vitebskaya, Elena L Dadali, Oxana P Ryzhkova
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation. Genes 15 (2) (2024)
Anna A Orlova, Daria Guseva, Nina Demina, Aleksander Polyakov, Oxana P Ryzhkova
Spectrum of Mutations in PTPN11 in Russian Cohort. Genes 15 (3) (2024)
G E Rudenskaya, Daria Guseva, Olga Mironovich, V A Kadnikova, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Oxana P Ryzhkova
[Developmental and epileptic encephalopathy produced by the ATP1A2 mutation]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 124 (6) (2024)
Elena S Merkuryeva, Tatiana Vladimirovna Markova, Vladimir M Kenis, Olga E Agranovich, Ivan M Dan, Yulia Y Kotalevskaya, Olga A Shchagina, Oxana P Ryzhkova, Sergei S Fomenko, Elena L Dadali, Sergey I Kutsev
Presentation of Rare Phenotypes Associated with the FKBP10 Gene. Genes 15 (6) (2024)
G E Rudenskaya, Daria Guseva, Olga Mironovich, V A Kadnikova, Alexandra Yu Filatova, Mikhail Yurevich Skoblov, Oxana P Ryzhkova
[Developmental and epileptic encephalopathy produced by the ATP1A2 mutation]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 124 (6) (2024)
Elena S Merkuryeva, Tatiana Vladimirovna Markova, Vladimir M Kenis, Olga E Agranovich, Ivan M Dan, Yulia Y Kotalevskaya, Olga A Shchagina, Oxana P Ryzhkova, Sergei S Fomenko, Elena L Dadali, Sergey I Kutsev
Presentation of Rare Phenotypes Associated with the FKBP10 Gene. Genes 15 (6) (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)
Valeriia A Kovalskaia, Anastasiia L Kungurtseva, Fatima M Bostanova, Petr Andreevich Vasiluev, Vyacheslav Y Tabakov, Mariia D Orlova, Inna S Povolotskaya, Olga G Novoselova, Roman A Bikanov, Mariia A Akhyamova, Yulia V Tikhonovich, Anastasiia V Popovich, Alisa V Vitebskaya, Elena L Dadali, Oxana P Ryzhkova
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation. Genes 15 (2) (2024)
Anna A Orlova, Daria Guseva, Nina Demina, Aleksander Polyakov, Oxana P Ryzhkova
Spectrum of Mutations in PTPN11 in Russian Cohort. Genes 15 (3) (2024)
Elena S Merkuryeva, Tatiana Vladimirovna Markova, Vladimir M Kenis, Olga E Agranovich, Ivan M Dan, Yulia Y Kotalevskaya, Olga A Shchagina, Oxana P Ryzhkova, Sergei S Fomenko, Elena L Dadali, Sergey I Kutsev
Presentation of Rare Phenotypes Associated with the FKBP10 Gene. Genes 15 (6) (2024)
Valeriia A Kovalskaia, Anastasiia L Kungurtseva, Fatima M Bostanova, Petr Andreevich Vasiluev, Vyacheslav Y Tabakov, Mariia D Orlova, Inna S Povolotskaya, Olga G Novoselova, Roman A Bikanov, Mariia A Akhyamova, Yulia V Tikhonovich, Anastasiia V Popovich, Alisa V Vitebskaya, Elena L Dadali, Oxana P Ryzhkova
The Genetic Basis of the First Patient with Wiedemann-Rautenstrauch Syndrome in the Russian Federation. Genes 15 (2) (2024)
G E Rudenskaya, A S Kuchina, V A Kadnikova, Oxana P Ryzhkova
[A case of spastic paraplegia with SPG4 and SPG3 associated mutations]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 123 (5) (2023)
Aysylu F Murtazina, Artem O Borovikov, Anna Kuchina, Olga Ovsova, Maria Bulakh, Alena Chukhrova, Svetlana Braslavskaya, Oxana P Ryzhkova, Nikolay Skryabin, Sergey Kutsev, Elena Dadali
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3. International journal of molecular sciences 25 (1) (2023)
G E Rudenskaya, M S Petukhova, Viktoriia V Zabnenkova, Tatiana B Cherevatova, Oxana P Ryzhkova
[Early-onset familial Alzheimer's disease with spastic paraparesis associated with PSEN1 gene]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 123 (11) (2023)
Polina Chausova, Aysylu F Murtazina, Anna Stepanova, Artem O Borovikov, Valeriia A Kovalskaia, Nina Ryadninskaya, Alena Chukhrova, Oxana P Ryzhkova, Aleksander Poliakov
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene. International journal of molecular sciences 24 (9) (2023)
Polina Chausova, Aysylu F Murtazina, Anna Stepanova, Artem O Borovikov, Valeriia A Kovalskaia, Nina Ryadninskaya, Alena Chukhrova, Oxana P Ryzhkova, Aleksander Poliakov
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene. International journal of molecular sciences 24 (9) (2023)
Polina Chausova, Aysylu F Murtazina, Anna Stepanova, Artem O Borovikov, Valeriia A Kovalskaia, Nina Ryadninskaya, Alena Chukhrova, Oxana P Ryzhkova, Aleksander Poliakov
X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the MTM1 Gene. International journal of molecular sciences 24 (9) (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)
Aysylu F Murtazina, Artem O Borovikov, Anna Kuchina, Olga Ovsova, Maria Bulakh, Alena Chukhrova, Svetlana Braslavskaya, Oxana P Ryzhkova, Nikolay Skryabin, Sergey Kutsev, Elena Dadali
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3. International journal of molecular sciences 25 (1) (2023)
Aysylu F Murtazina, Artem O Borovikov, Anna Kuchina, Olga Ovsova, Maria Bulakh, Alena Chukhrova, Svetlana Braslavskaya, Oxana P Ryzhkova, Nikolay Skryabin, Sergey Kutsev, Elena Dadali
Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3. International journal of molecular sciences 25 (1) (2023)
Olga Mironovich, Valeriia A Kovalskaia, Peter A Sparber, Inna Sharkova, Irina Mishina, Vera Kuznetsova, Oxana P Ryzhkova
TRA2B Gene Splice Variant Linked to Seizures and Neurodevelopmental Delay: A Second Case Study. International journal of molecular sciences 24 (21) (2023)
Valeriia A Kovalskaia, Viktoriia V Zabnenkova, Marina S Petukhova, Zhanna G Markova, Vyacheslav Yu Tabakov, Oxana P Ryzhkova
Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia. Genes 13 (12) (2022)
Valeriia A Kovalskaia, Viktoriia V Zabnenkova, Marina S Petukhova, Zhanna G Markova, Vyacheslav Yu Tabakov, Oxana P Ryzhkova
Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia. Genes 13 (12) (2022)
Viktoriia V Zabnenkova, Olga A Shchagina, Olga Makienko, Galina Matyushchenko, Oxana P Ryzhkova
Novel Compound Heterozygous Variants in the CDC6 Gene in a Russian Patient with Meier-Gorlin Syndrome. The application of clinical genetics 15 (2022)
Aysylu F Murtazina, Sergey Nikitin, Galina Rudenskaya, Inna Sharkova, Artem O Borovikov, Peter A Sparber, Olga A Shchagina, Alena Chukhrova, Oxana P Ryzhkova, Olga Mironovich, Anna A Orlova, Vasilisa Udalova, Ilya Kanivets, Sergey Korostelev, Alexander Polyakov, Elena Dadali, Sergey Kutsev
Genetic and Clinical Spectrum of GNE Myopathy in Russia. Genes 13 (11) (2022)
Olga Mironovich, Nailya Galeeva, Anna Stepanova, Tatiana Markova, Maria Lalayants, Natalia Alekseeva, George Tavarkiladze, Tatiana Vladimirovna Markova, Liudmila Bessonova, Marina Petukhova, Daria Guseva, Inga Anisimova, Alexander Polyakov, Oxana P Ryzhkova, Elena Bliznetz
Spectrum of Genes for Non- GJB2 -Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel. International journal of molecular sciences 23 (24) (2022)
Tatiana Markova, Natalia Alekseeva, Maria Lalayants, Oxana P Ryzhkova, Olga Mironovich, Nailya Galeeva, Elena A Bliznetz, Oleg Belov, Svetlana Chibisova, Alexander Polyakov, George Tavarkiladze
Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss. Journal of personalized medicine 12 (11) (2022)
Elena Zinina, Maria Bulakh, Alena Chukhrova, Oxana P Ryzhkova, Peter A Sparber, Olga A Shchagina, Aleksander Polyakov, Sergey Kutsev
Specificities of the DMD Gene Mutation Spectrum in Russian Patients. International journal of molecular sciences 23 (21) (2022)
Olga Mironovich, Nailya Galeeva, Anna Stepanova, Tatiana Markova, Maria Lalayants, Natalia Alekseeva, George Tavarkiladze, Tatiana Vladimirovna Markova, Liudmila Bessonova, Marina Petukhova, Daria Guseva, Inga Anisimova, Alexander Polyakov, Oxana P Ryzhkova, Elena Bliznetz
Spectrum of Genes for Non- GJB2 -Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel. International journal of molecular sciences 23 (24) (2022)
Tatiana Markova, Natalia Alekseeva, Maria Lalayants, Oxana P Ryzhkova, Olga Mironovich, Nailya Galeeva, Elena A Bliznetz, Oleg Belov, Svetlana Chibisova, Alexander Polyakov, George Tavarkiladze
Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss. Journal of personalized medicine 12 (11) (2022)
Valeriia A Kovalskaia, Viktoriia V Zabnenkova, Marina S Petukhova, Zhanna G Markova, Vyacheslav Yu Tabakov, Oxana P Ryzhkova
Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia. Genes 13 (12) (2022)
Olga Mironovich, Nailya Galeeva, Anna Stepanova, Tatiana Markova, Maria Lalayants, Natalia Alekseeva, George Tavarkiladze, Tatiana Vladimirovna Markova, Liudmila Bessonova, Marina Petukhova, Daria Guseva, Inga Anisimova, Alexander Polyakov, Oxana P Ryzhkova, Elena Bliznetz
Spectrum of Genes for Non- GJB2 -Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel. International journal of molecular sciences 23 (24) (2022)
Olga Mironovich, Nailya Galeeva, Anna Stepanova, Tatiana Markova, Maria Lalayants, Natalia Alekseeva, George Tavarkiladze, Tatiana Vladimirovna Markova, Liudmila Bessonova, Marina Petukhova, Daria Guseva, Inga Anisimova, Alexander Polyakov, Oxana P Ryzhkova, Elena Bliznetz
Spectrum of Genes for Non- GJB2 -Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel. International journal of molecular sciences 23 (24) (2022)
Valeriia A Kovalskaia, Viktoriia V Zabnenkova, Marina S Petukhova, Zhanna G Markova, Vyacheslav Yu Tabakov, Oxana P Ryzhkova
Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia. Genes 13 (12) (2022)
Anna A Orlova, Daria Guseva, Oxana P Ryzhkova
Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy. International journal of molecular sciences 23 (20) (2022)
G E Rudenskaya, Daria Guseva, Olga Mironovich, V A Kadnikova, E L Dadali, I F Komar'kov, Olga G Novoselova, Oxana P Ryzhkova
[AP4-assocated hereditary spastic paraplegias]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 121 (2) (2021)
Olga Mironovich, Natalia Semenova, Nina Demina, Elena Dadali, Alexander Polyakov, Oxana P Ryzhkova
A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of USP53. Genes 12 (10) (2021)
G E Rudenskaya, V A Kadnikova, L A Bessonova, Peter A Sparber, Sergey Kurbatov, Olga Mironovich, Fedor A Konovalov, Oxana P Ryzhkova
[Autosomal dominant spastic paraplegias]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 121 (5) (2021)
G E Rudenskaya, V A Kadnikova, Oxana P Ryzhkova, L A Bessonova, E L Dadali, Daria Guseva, Tatiana Vladimirovna Markova, D N Khmelkova, Olga A Shchagina
KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families. BMC neurology 20 (1) (2020)
V A Kadnikova, G E Rudenskaya, Anna A Stepanova, I G Sermyagina, Oxana P Ryzhkova
Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia. Scientific reports 9 (1) (2019)