Oksana Ryzhkova

Affiliations

Research Centre for Medical Genetics, Moscow 115478, Russia.

ORCID: 0000-0003-1285-9093

Publications (23)

Novel Compound Heterozygous Variants in the

The application of clinical genetics

Avec: Viktoriia Zabnenkova , Olga Shchagina , Olga Makienko , Galina Matyushchenko , Oxana Ryzhkova

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder.

International journal of molecular sciences

Avec: Olga Levchenko , Elena Dadali , Ludmila Bessonova , Nina Demina , Galina Rudenskaya , Galina Matyushchenko , Tatiana Markova , Inga Anisimova , Natalia Semenova , Olga Shchagina , Oxana Ryzhkova , Rena Zinchenko , Varvara Galkina , Victoria Voinova , Sabina Nagieva , Alexander Lavrov

The first case of a point pathogenic variant in the RREB1 gene in Noonan-like Rasopathy.

Clinical genetics

Avec: Olga Shatokhina , Fatima Bostanova , Maria Bulakh , Anastasia Beresneva , Oxana Ryzhkova

The study of the full spectrum of variants leading to hyperphenylalaninemia have revealed 10 new variants in the PAH gene.

Metabolic brain disease

Avec: I Kuznetcova , P Gundorova , O Ryzhkova , A Polyakov

Genetic and Clinical Spectrum of GNE Myopathy in Russia.

Genes

Avec: Aysylu Murtazina , Sergey Nikitin , Galina Rudenskaya , Inna Sharkova , Artem Borovikov , Peter Sparber , Olga Shchagina , Alena Chukhrova , Oksana Ryzhkova , Olga Shatokhina , Anna Orlova , Vasilisa Udalova , Ilya Kanivets , Sergey Korostelev , Alexander Polyakov , Elena Dadali , Sergey Kutsev

Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss.

Journal of personalized medicine

Avec: Tatiana Markova , Natalia Alekseeva , Maria Lalayants , Oxana Ryzhkova , Olga Shatokhina , Nailya Galeeva , Elena Bliznetz , Oleg Belov , Svetlana Chibisova , Alexander Polyakov , George Tavartkiladze

International journal of molecular sciences

Avec: Olga Shatokhina , Valeriia Kovalskaia , Peter Sparber , Inna Sharkova , Irina Mishina , Vera Kuznetsova , Oxana Ryzhkova

Asymmetric scapuloperoneal phenotype of

Frontiers in genetics

Avec: Aysylu Murtazina , Dmitrii Subbotin , Anna Kuchina , Olga Gilvanova , Daniil Degterev , Olga Shchagina , Tatiana Cherevatova , Maria Bulakh , Darya Sherstyukova , Oksana Ryzhkova , Olga Kurushina , Mikhail Skoblov , Artem Borovikov , Sergey Kutsev

Identification of a Novel

Genes

Avec: Olga Mironovich , Elena Dadali , Sergey Malmberg , Tatyana Markova , Oxana Ryzhkova , Aleksander Poliakov

A Two-Year Clinical Description of a Patient with a Rare Type of Low-GGT Cholestasis Caused by a Novel Variant of

Genes

Avec: Olga Shatokhina , Natalia Semenova , Nina Demina , Elena Dadali , Alexander Polyakov , Oxana Ryzhkova

The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.

Bone

Avec: I Viakhireva , I Bychkov , T Markova , O Shatokhina , K Karandasheva , V Udalova , Y Bekhtereva , O Ryzhkova , M Skoblov

Atypical structure of the nuclear membrane, distribution of nuclear pores and lamin B1 in spermatozoa of patients with complete and partial globozoospermia.

Frontiers in genetics

Avec: Elizaveta Bragina , Svetlana Kurchashova , Marina Suhomlinova , Tatiana Gasanova , Svetlana Ermolaeva , Tatyana Sorokina , Eva Kirs , Evgeniy Arifulin , Olga Solovova , Oxana Ryzhkova , Sabina Khayat , Marina Andreeva , Vyacheslav Chernykh

Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients.

Gene

Avec: Maria Bulakh , Daria Polyakova , Elena Dadali , Galina Rudenskaya , Inna Sharkova , Tatiana Markova , Aysylu Murtazina , Nina Demina , Sergei Kurbatov , Natalia Nikitina , Vasilisa Udalova , Alexander Polyakov , Oxana Ryzhkova

Spectrum of Mutations in

Genes

Avec: Anna Orlova , Daria Guseva , Nina Demina , Aleksander Polyakov , Oksana Ryzhkova

Expanding the Phenotype of Hereditary Congenital Facial Paresis Type 3.

International journal of molecular sciences

Avec: Aysylu Murtazina , Artem Borovikov , Anna Kuchina , Olga Ovsova , Maria Bulakh , Alena Chukhrova , Svetlana Braslavskaya , Oksana Ryzhkova , Nikolay Skryabin , Sergey Kutsev , Elena Dadali

Identification of a Novel de Novo Variant in the CASZ1 Causing a Rare Type of Dilated Cardiomyopathy.

International journal of molecular sciences

Avec: Anna Orlova , Daria Guseva , Oxana Ryzhkova

Spectrum of Genes for Non-

International journal of molecular sciences

Avec: Olga Shatokhina , Nailya Galeeva , Anna Stepanova , Tatiana Markova , Maria Lalayants , Natalia Alekseeva , George Tavarkiladze , Tatiana Markova , Liudmila Bessonova , Marina Petukhova , Daria Guseva , Inga Anisimova , Alexander Polyakov , Oxana Ryzhkova , Elena Bliznetz

X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the

International journal of molecular sciences

Avec: Polina Chausova , Aysylu Murtazina , Anna Stepanova , Artem Borovicov , Valeriia Kovalskaia , Nina Ryadninskaya , Alena Chukhrova , Oxana Ryzhkova , Aleksander Poliakov

Rare IFT140-Associated Phenotype of Cranioectodermal Dysplasia and Features of Diagnostic Journey in Patients with Suspected Ciliopathies.

Genes

Avec: Margarita Sharova , Tatyana Markova , Maria Sumina , Marina Petukhova , Maria Bulakh , Oxana Ryzhkova , Tatyana Nagornova , Sofya Ionova , Andrey Marakhonov , Elena Dadali , Sergey Kutsev

Mild phenotype of

Frontiers in pediatrics

Avec: Aysylu Murtazina , Artem Borovikov , Andrey Marakhonov , Artem Sharkov , Inna Sharkova , Alena Mirzoyan , Sviatlana Kulikova , Ralina Ganieva , Viktoriia Zabnenkova , Oksana Ryzhkova , Sergey Nikitin , Elena Dadali , Sergey Kutsev

A Rare Case of

International journal of molecular sciences

Avec: Andrey Marakhonov , Elena Serebryakova , Anna Mukhina , Anastasia Vechkasova , Nikolai Prokhorov , Irina Efimova , Natalia Balinova , Anastasia Lobenskaya , Tatyana Vasilyeva , Victoria Zabnenkova , Oxana Ryzhkova , Yulia Rodina , Dmitry Pershin , Nadezhda Soloveva , Anna Fomenko , Djamila Saydaeva , Aset Ibisheva , Taisiya Irbaieva , Alexander Koroteev , Rena Zinchenko , Sergey Voronin , Anna Shcherbina , Sergey Kutsev

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases.

International journal of molecular sciences

Avec: Olga Shchagina , Valeriy Fedotov , Tatiana Markova , Olga Shatokhina , Oksana Ryzhkova , Tatiana Fedotova , Aleksander Polyakov

Specificities of the DMD Gene Mutation Spectrum in Russian Patients.

International journal of molecular sciences

Avec: Elena Zinina , Maria Bulakh , Alena Chukhrova , Oksana Ryzhkova , Peter Sparber , Olga Shchagina , Aleksander Polyakov , Sergey Kutsev

Réseau de co-auteurs

Oxana Ryzhkova 14 collaborations

Elena Dadali 8 collaborations

Olga Shatokhina 7 collaborations

Sergey Kutsev 7 collaborations

Olga Shchagina 6 collaborations

Tatiana Markova 6 collaborations

Maria Bulakh 6 collaborations

Aysylu Murtazina 6 collaborations

Alexander Polyakov 5 collaborations

Nina Demina 4 collaborations

Inna Sharkova 4 collaborations

Artem Borovikov 4 collaborations

Alena Chukhrova 4 collaborations

Galina Rudenskaya 3 collaborations

Peter Sparber 3 collaborations

Anna Orlova 3 collaborations

Daria Guseva 3 collaborations

Aleksander Polyakov 3 collaborations

Andrey Marakhonov 3 collaborations

Viktoriia Zabnenkova 2 collaborations

Galina Matyushchenko 2 collaborations

Inga Anisimova 2 collaborations

Natalia Semenova 2 collaborations

Rena Zinchenko 2 collaborations

O Ryzhkova 2 collaborations

Sergey Nikitin 2 collaborations

Vasilisa Udalova 2 collaborations

Natalia Alekseeva 2 collaborations

Maria Lalayants 2 collaborations

Nailya Galeeva 2 collaborations

Elena Bliznetz 2 collaborations

Valeriia Kovalskaia 2 collaborations

Anna Kuchina 2 collaborations

Tatyana Markova 2 collaborations

Aleksander Poliakov 2 collaborations

Anna Stepanova 2 collaborations

Marina Petukhova 2 collaborations

Olga Makienko 1 collaboration

Olga Levchenko 1 collaboration

Ludmila Bessonova 1 collaboration

Varvara Galkina 1 collaboration

Victoria Voinova 1 collaboration

Sabina Nagieva 1 collaboration

Alexander Lavrov 1 collaboration

Fatima Bostanova 1 collaboration

Anastasia Beresneva 1 collaboration

I Kuznetcova 1 collaboration

P Gundorova 1 collaboration

A Polyakov 1 collaboration

Ilya Kanivets 1 collaboration

Sergey Korostelev 1 collaboration

Oleg Belov 1 collaboration

Svetlana Chibisova 1 collaboration

George Tavartkiladze 1 collaboration

Irina Mishina 1 collaboration

Vera Kuznetsova 1 collaboration

Dmitrii Subbotin 1 collaboration

Olga Gilvanova 1 collaboration

Daniil Degterev 1 collaboration

Tatiana Cherevatova 1 collaboration

Darya Sherstyukova 1 collaboration

Olga Kurushina 1 collaboration

Mikhail Skoblov 1 collaboration

Olga Mironovich 1 collaboration

Sergey Malmberg 1 collaboration

I Viakhireva 1 collaboration

I Bychkov 1 collaboration

T Markova 1 collaboration

O Shatokhina 1 collaboration

K Karandasheva 1 collaboration

V Udalova 1 collaboration

Y Bekhtereva 1 collaboration

M Skoblov 1 collaboration

Elizaveta Bragina 1 collaboration

Svetlana Kurchashova 1 collaboration

Marina Suhomlinova 1 collaboration

Tatiana Gasanova 1 collaboration

Svetlana Ermolaeva 1 collaboration

Tatyana Sorokina 1 collaboration

Eva Kirs 1 collaboration

Evgeniy Arifulin 1 collaboration

Olga Solovova 1 collaboration

Sabina Khayat 1 collaboration

Marina Andreeva 1 collaboration

Vyacheslav Chernykh 1 collaboration

Daria Polyakova 1 collaboration

Sergei Kurbatov 1 collaboration

Natalia Nikitina 1 collaboration

Olga Ovsova 1 collaboration

Svetlana Braslavskaya 1 collaboration

Nikolay Skryabin 1 collaboration

George Tavarkiladze 1 collaboration

Liudmila Bessonova 1 collaboration

Polina Chausova 1 collaboration

Artem Borovicov 1 collaboration

Nina Ryadninskaya 1 collaboration

Margarita Sharova 1 collaboration

Maria Sumina 1 collaboration

Tatyana Nagornova 1 collaboration

Sofya Ionova 1 collaboration

Artem Sharkov 1 collaboration

Alena Mirzoyan 1 collaboration

Sviatlana Kulikova 1 collaboration

Ralina Ganieva 1 collaboration

Elena Serebryakova 1 collaboration

Anna Mukhina 1 collaboration

Anastasia Vechkasova 1 collaboration

Nikolai Prokhorov 1 collaboration

Irina Efimova 1 collaboration

Natalia Balinova 1 collaboration

Anastasia Lobenskaya 1 collaboration

Tatyana Vasilyeva 1 collaboration

Victoria Zabnenkova 1 collaboration

Yulia Rodina 1 collaboration

Dmitry Pershin 1 collaboration

Nadezhda Soloveva 1 collaboration

Anna Fomenko 1 collaboration

Djamila Saydaeva 1 collaboration

Aset Ibisheva 1 collaboration

Taisiya Irbaieva 1 collaboration

Alexander Koroteev 1 collaboration

Sergey Voronin 1 collaboration

Anna Shcherbina 1 collaboration

Valeriy Fedotov 1 collaboration

Tatiana Fedotova 1 collaboration

Elena Zinina 1 collaboration