OpenURL Connection Search

Select item for more details and to access through your institution.

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
Clinical and Functional Characteristics of the E92K CFTR Gene Variant in the Russian and Turkish Population of People with Cystic Fibrosis.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6351, doi. 10.3390/ijms24076351
By:
- Kondratyeva, Elena;
- Melyanovskaya, Yuliya;
- Bulatenko, Nataliya;
- Davydenko, Ksenia;
- Filatova, Alexandra;
- Efremova, Anna;
- Skoblov, Mikhail;
- Bukharova, Tatiana;
- Sherman, Viktoriya;
- Voronkova, Anna;
- Zhekaite, Elena;
- Krasovskiy, Stanislav;
- Amelina, Elena;
- Petrova, Nika;
- Polyakov, Alexander;
- Adyan, Tagui;
- Starinova, Marina;
- Krasnova, Maria;
- Vasilyev, Andrey;
- Makhnach, Oleg
Publication type:
Article
Evaluation of the Complex p.[Leu467Phe;Phe508del] CFTR Allele in the Intestinal Organoids Model: Implications for Therapy.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810377
By:
- Kondratyeva, Elena;
- Efremova, Anna;
- Melyanovskaya, Yuliya;
- Voronkova, Anna;
- Polyakov, Alexander;
- Bulatenko, Nataliya;
- Adyan, Tagui;
- Sherman, Viktoriya;
- Kovalskaia, Valeriia;
- Petrova, Nika;
- Starinova, Marina;
- Bukharova, Tatiana;
- Kutsev, Sergei;
- Goldshtein, Dmitry
Publication type:
Article
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
Comparative Meropenem Pharmacodynamics and Emergence of Resistance against Carbapenem-Susceptible Non-Carbapenemase-Producing and Carbapenemase-Producing Enterobacterales: A Pharmacodynamic Study in a Hollow-Fiber Infection Model.
Published in:
Antibiotics (2079-6382), 2023, v. 12, n. 12, p. 1717, doi. 10.3390/antibiotics12121717
By:
- Golikova, Maria V.;
- Alieva, Kamilla N.;
- Strukova, Elena N.;
- Kondratieva, Daria A.;
- Petrova, Nika F.;
- Petrova, Mayya A.;
- Zinner, Stephen H.
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
New Representatives of the Class Ignavibacteria Inhabiting Subsurface Aquifers of Yessentuki Mineral Water Deposit.
Published in:
Water (20734441), 2023, v. 15, n. 19, p. 3451, doi. 10.3390/w15193451
By:
- Podosokorskaya, Olga A.;
- Elcheninov, Alexander G.;
- Gavrilov, Sergey N.;
- Petrova, Nika F.;
- Klyukina, Alexandra A.;
- Zavarzina, Daria G.;
- Merkel, Alexander Y.
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
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
TNF gene polymorphisms in cystic fibrosis patients: contribution to the disease progression.
Published in:
Journal of Translational Medicine, 2013, v. 11, n. 1, p. 1, doi. 10.1186/1479-5876-11-19
By:
- Shmarina, Galina;
- Pukhalsky, Alexander;
- Petrova, Nika;
- Zakharova, Ekaterina;
- Avakian, Lucine;
- Kapranov, Nikolai;
- Alioshkin, Vladimir
Publication type:
Article
TNF gene polymorphisms in cystic fibrosis patients: contribution to the disease progression.
Published in:
2013
By:
- Shmarina, Galina;
- Pukhalsky, Alexander;
- Petrova, Nika;
- Zakharova, Ekaterina;
- Avakian, Lucine;
- Kapranov, Nikolai;
- Alioshkin, Vladimir
Publication type:
journal 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
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
Health Characteristics of Patients with Cystic Fibrosis whose Genotype Includes a Variant of the Nucleotide Sequence c.3140-16T>A and Functional Analysis of this Variant.
Published in:
Genes, 2021, v. 13, n. 6, p. 837, doi. 10.3390/genes12060837
By:
- Kondratyeva, Elena;
- Bukharova, Tatyana;
- Efremova, Anna;
- Melyanovskaya, Yuliya;
- Bulatenko, Natalia;
- Davydenko, Ksenia;
- Filatova, Alexandra;
- Skoblov, Mikhail;
- Krasovsky, Stanislav;
- Petrova, Nika;
- Polyakov, Alexander;
- Adyan, Tagui;
- Amelina, Elena;
- Shadrina, Vera;
- Zhekaite, Elena;
- Zodbinova, Aysa;
- Chernyak, Alexander;
- Zinchenko, Rena;
- Kutsev, Sergei;
- Goldshtein, Dmitry
Publication type:
Article
Genetic Variant c.245A>G (p.Asn82Ser) in GIPC3 Gene Is a Frequent Cause of Hereditary Nonsyndromic Sensorineural Hearing Loss in Chuvash Population.
Published in:
Genes, 2021, v. 13, n. 6, p. 820, doi. 10.3390/genes12060820
By:
- Petrova, Nika V.;
- Marakhonov, Andrey V.;
- Balinova, Natalia V.;
- Abrukova, Anna V.;
- Konovalov, Fedor A.;
- Kutsev, Sergey I.;
- Zinchenko, Rena A.
Publication type:
Article
Clinical Presentation of the c.3844T>C (p.Trp1282Arg, W1282R) Variant in Russian Cystic Fibrosis Patients.
Published in:
Genes, 2020, v. 11, n. 10, p. 1137, doi. 10.3390/genes11101137
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.
Publication type:
Article
Analysis of CFTR Mutation Spectrum in Ethnic Russian Cystic Fibrosis Patients.
Published in:
Genes, 2020, v. 11, n. 5, p. 554, doi. 10.3390/genes11050554
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.
Publication type:
Article
Conjugative Plasmid pPPUT-Tik1-1 from a Permafrost Pseudomonas putida Strain and Its Present-Day Counterparts Inhabiting Environments and Clinics.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 17, p. 13518, doi. 10.3390/ijms241713518
By:
- Maslova, Olga;
- Beletsky, Alexey;
- Mindlin, Sofia;
- Petrova, Nika;
- Mardanov, Andrey;
- Petrova, Mayya
Publication type:
Article
High frequency of complex CFTR alleles associated with c.1521_1523delCTT (F508del) in Russian cystic fibrosis patients.
Published in:
BMC Genomics, 2022, v. 23, n. 1, p. 1, doi. 10.1186/s12864-022-08466-z
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.
Publication type:
Article

Found: 21