Search Results - "Petrova, Nika V."

High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients 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

“…Cystic fibrosis (CF, MIM# 219,700) is an autosomal recessive disease caused by pathogenic variants within the CFTR gene. It was shown that genetic variants…”
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Corrigendum: Epidemiology of rare hereditary diseases in the European part of Russia: Point and cumulative prevalence 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.

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Epidemiology of Rare Hereditary Diseases in the European Part of Russia: Point and Cumulative Prevalence 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.

“…The issue of point prevalence, cumulative prevalence (CP), and burden of rare hereditary diseases (RHD), comprising 72–80% of the group of rare diseases, is…”
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Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic 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

“…Prevalence and allelic heterogeneity of hereditary diseases (HDs) could vary significantly in different human populations. Current knowledge of HDs…”
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A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region 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

“…Because of the significant occurrence of "WAGR-region" deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all…”
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Vitamin D Status Among Children With Juvenile Idiopathic Arthritis: A Multicenter Prospective, Non-randomized, Comparative Study by Kondratyeva, Elena I., Odinaeva, Nuriniso D., Klimov, Leonid Ya, Podchernyaeva, Nadeshda S., Ilenkova, Natalya I., Dolbnya, Svetlana V., Zhekaite, Elena K., Kuryaninova, Victoria A., Kotova, Yuliya V., Tikhaya, Margarita I., Shitkovskaya, Elena P., Bychina, Liubov V., Drepa, Tamara G., Zodbinova, Aisa E., Melyanovskaya, Yuliya L., Petrova, Nika V., Loshkova, Elena V., Kutsev, Sergei I.

“…Background Juvenile idiopathic arthritis (JIA) is a chronic autoimmune disease characterized by destructive and inflammatory damage to the joints. The aim in…”
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Vitamin D Status in Russian Children and Adolescents: Contribution of Genetic and Exogenous Factors by Kondratyeva, Elena I, Zakharova, Irina N, Ilenkova, Natalya A, Klimov, Leonid Ya, Petrova, Nika V, Zodbinova, Aisa E, Zhekaite, Elena K, Chikunov, Vladimir V, Dolbnya, Svetlana V, Voronkova, Anna Yu, Sherman, Victoria D, Loshkova, Elena V, Melyanovskaya, Yuliya L, Budzinskiy, Roman M, Kuryaninova, Victoria A, Kutsev, Sergey I

“…The problem of vitamin D deficiency is particularly relevant for the entire territory of Russia, since most parts of the country are located above the 42nd…”
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Clinical Efficacy and Safety of Ivacaftor/Lumacaftor Combination in Patients with Cystic Fibrosis: International Studies Review by Kashirskaya, Nataliya Yu, Petrova, Nika V., Zinchenko, Rena A.

“…Cystic fibrosis is an autosomal recessive disease caused by structure abnormalities in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. It…”
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Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation by Petrova, Nika V., Marakhonov, Andrey V., Vasilyeva, Tatiana A., Kashirskaya, Natalya Y., Ginter, Evgeny K., Kutsev, Sergey I., Zinchenko, Rena A.

“…Single nucleotide variants are represented as lines. The height of the line corresponds to the allele frequency. Gross chromosomal copy number variations are…”
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Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients 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

“…The distribution and frequency of the gene mutations vary considerably between countries and ethnic groups. Russians are an East Slavic ethnic groups are…”
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Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population by Petrova, Nika V, Marakhonov, Andrey V, Balinova, Natalia V, Abrukova, Anna V, Konovalov, Fedor A, Kutsev, Sergey I, Zinchenko, Rena A

“…Hereditary nonsyndromic sensorineural hearing loss is a disease in which hearing loss occurs due to damage to the organ of the inner ear, the auditory nerve,…”
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Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients 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

“…The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian…”
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Ataxia with Oculomotor Apraxia Type 4 with PNKP Common "Portuguese" and Novel Mutations in Two Belarusian Families by Rudenskaya, Galina E, Marakhonov, Andrey V, Shchagina, Olga A, Lozier, Ekaterina R, Dadali, Elena L, Akimova, Irina A, Petrova, Nika V, Konovalov, Fedor A

“…Ataxia with oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive, -related disorder delineated in 2015 in Portugal. We diagnosed AOA4 by next…”
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A Clinical and Molecular Analysis of Branchio‐Oculo‐Facial Syndrome Patients in Russia Revealed New Mutations in TFAP2A 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.

“…Summary Branchio‐oculo‐facial syndrome (BOFS, OMIM# 113620) is a rare autosomal dominant disorder characterised by branchial cleft sinus defects, ocular…”
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Characteristics of the L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients: L138ins (p.Leu138dup) mutation in Russian cystic fibrosis patients 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

“…The L138ins mutation, found in Russian cystic fibrosis (CF) patients, is a duplication of three nucleotides (CTA) in exon 4 of the CFTR gene and is categorised…”
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Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic by Zinchenko, Rena A, Kadyshev, Vitaly V, El'chinova, Galina I, Marakhonov, Andrey V, Galkina, Varvara A, Dadali, Elena L, Khlebnikova, Olga V, Mikhailova, Lyudmila K, Petrova, Nika V, Petrina, Nina E, Vasilyeva, Tatyana A, Gundorova, Polina, Tanas, Alexander S, Strelnikov, Vladimir V, Polyakov, Alexander V, Ginter, Eugeny K

“…The genetic load and diversity of monogenic hereditary diseases (HD) in the Russian population of Karachay-Cherkess Republic (KCHR), living in 10…”
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Clinical Presentation of the c.3844TC Variant in Russian Cystic Fibrosis Patients 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

“…The goal was to study the phenotypic manifestations of c.3844T>C (p.Trp1282Arg, W1282R) variant, a CF-causing mutation, in patients from the Russian…”
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Characteristics of the mutation spectrum identified by comprehensive investigation of the CFTR gene in the Russian patients by Petrova, N. V., Marakhonov, A. Yu, Vasilyeva, T. A., Kashirskaya, N. Yu, Kondratyeva, E. I., Zhekayte, E. K., Voronkova, A. Yu, Sherman, V. D., Galkina, V. A., Ginter, E. K., Kutsev, S. I., Zinchenko, R. A.

“…Rationale : Cystic fibrosis (CF; OMIM 219700) is a  common hereditary disease caused by mutations in the CFTR gene (OMIM 602421). The distribution and…”
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