DNA-diagnostics Laboratory

The Research Institute of Clinical Genetics and Prevention of Hereditary Diseases under All-Union Research Centre for Medical Genetics (AURCMG) of the USSR Academy of Medical Sciences, now called FSBI Research Centre for Medical Genetics, set up the DNA-diagnostics Laboratory in 1991 by order No. 68L dated 17 June 1991. Evgrafov Oleg Vadimovich, Doctor of Biological Sciences, has been an organizer and head of the Laboratory before 1999. Today, the head of the Laboratory is Dr. Polyakov Aleksandr Vladimirovich.

Head of the Laboratory

Polyakov Aleksander Vladimirovich

Тел:: +7 (499) 324-81-10
Email:: polyakov@med-gen.ru

ORCID ID: 0000-0002-0105-1833

Shchagina Olga Anatolyevna

leading research scientist

Doctor of Medicine

Тел:

+7 (499) 324-81-10

Email:

schagina@med-gen.ru

WoS Researcher ID: W-4835-2018
Scopus icon 25422833100
ORCID 0000-0003-4905-1303
Аккредитация по специальности «Лабораторная генетика» (Протокол заседания ЦАК от 28.12.2021 №25 высшего медицинского образования).
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Adyan Tagui Avetikovna

Senior Researcher

PhD in Medical Sciences

ORCID 0000-0002-7714-9538
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Beskorovaynaya Tatyana Sergeevna

Senior Researcher

PhD in Medical Sciences

ORCID 0000-0001-5656-2561
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Гришина Кристина Александровна

Researcher
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Orlova Maria Dmitrievna

Researcher

ORCID 0000-0002-3743-094X
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Chausova Polina Aleksandrovna

Researcher

ORCID 0000-0002-0431-1477
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Kadnikova Varvara Andreevna

Researcher

ORCID 0000-0002-1245-4881
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Stepanova Anna Alexandrovna

Researcher

ORCID 0000-0003-0416-8137
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Зинина Елена Витальевна

Junior Researcher

ORCID 0000-0001-5017-7996
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Исмагилова Ольга Раисовна

Junior Researcher

ORCID 0000-0003-0640-9758
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Мишакова Полина Владимировна

Junior Researcher

ORCID 0000-0002-0362-4818
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Ryadninskaya Nina Vasilievna

Research Assistant

ORCID 0000-0003-2913-9594
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Огородова Наталья Юрьевна

Researcher
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Ахкямова Мария Альбертовна

Researcher
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Ковальская Валерия Александровна

Researcher
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About the Laboratory

Since its creation and through the present day, the main practical focus of the Laboratory has been the development and improvement of DNA-diagnostics methods of hereditary monogenic diseases according to the on-line or on demand DNA-diagnostics concept, which implies the development of diagnostic protocol for each specific family, even with a very rare hereditary disease. As a part of this implementation, the Laboratory continuously introduces the most modern methods of analysis into practice.

The DNA-diagnostics Laboratory Main Objectives are:

Search for a molecular cause of a hereditary disease
A confirmatory, prenatal, presymptomatic diagnostics of carriership
Development and optimization of diagnostic systems
Assistance the attending physician in interpreting the results of the study

The Laboratory Main Outcomes of the Work:

Participation in mapping of genetic loci of Friedreich's ataxia, Huntington's chorea.
Mapping and identification of genes:
2000 – CMT2E OMIM 607684 – NEFL,
2001 – CMT2F OMIM 606595 – HSPB1,
2004 – CMT2A2 OMIM 607684 – MFN2,
2007 – Chuvash Osteopetrosis– TCIRG1,
2008 год – Yakut methemoglobinemia – DIA1.
Development of DNA-diagnostics systems for more than 300 monogenic diseases.
Diagnosis of multifactor diseases.
The Laboratory has published 822 papers, including 234 articles, during 1991-2015.
44 theses were defended, 6 of them were for doctoral and 38 for candidate degree.

Main Focus of the Laboratory Research Today:

Search for molecular basis of allelic and locus heterogeneity of hereditary diseases.
Study of locus heterogeneity of various monogenic diseases in Russian patients: mapping and identification the new genes for monogenic diseases; study of the frequencies and spectra of mutations responsible for Mendelian diseases in residents of the Russian Federation various territories.
Study of allelic heterogeneity of monogenic diseases in Russian patients. Study of carrier state frequencies of common autosomal recessive diseases in residents of the Russian Federation various territories.
Examining the relationship of phenotypic occurrences of diseases spectrum and structural and functional features of damaged proteins.
Creation of region specific algorithms for the clinical and molecular genetic diagnosis of hereditary disease.

Основные публикации лаборатории ДНК-диагностики за последние 3 года

Theses

№	Full name of the candidate for degree, Thesis title	Place of work of the candidate for degree	Thesis defense year	Place of defense	Specialty, code	Scientific degree	Scientific advisors, consultants
1	Polyakov A.V. Polymorphic DNA markers for DNA diagnosis of Duchenne myodystrophy	RCMG RAMS	1992	RCMG RAMS	Genetics - 03.00.15	Candidate of biological science	Evgrafov O.V. – Candidate of biological science
2	Evgrafov O.V. Mapping and study of the fine structure of certain human genes and development of DNA diagnostics of hereditary diseases on this basis	RCMG RAMS	1992	RCMG RAMS	Genetics - 03.00.15	Doctor of biological science	Prof. Ginter E.K. - Doctor of biological science
3	Pugachev V.V. Genome region research responsible for Friedreich’s ataxia to clarify the gene localization and to develop DNA diagnostic procedures for the disease	RCMG RAMS	1993	RCMG RAMS	Genetics - 03.00.15	Candidate of biological science	Evgrafov O.V. – Doctor of biological science
4	Tverskaya S.M. Molecular genetic study of X-linked Alport syndrome	RCMG RAMS	1995	RCMG RAMS	Genetics - 03.00.15	Candidate of medical science	Evgrafov O.V. – Doctor of biological science
5	Bobrynina V.O. Study of the structure and polymorphism of genes of the second class of DMA and DMB histocompatibility complex	Research Institute of Pediatric Hematology, RF Ministry of Health	1995	RCMG RAMS	Genetics - 03.00.15	Candidate of medical science	Evgrafov O.V. – Doctor of biological science
6	Petrukhin А.А. Molecular diagnostics and medical genetic prognosis of spinal and bulbar Kennedy amyotrophy in children and adolescents	Research Institute of Pediatric Hematology, RF Ministry of Health	1996	Research Institute of Pediatric Hematology, RF Ministry of Health	Pediatrics - 14.00.09; Genetics - 03.00.15	Candidate of medical science	Prof. Rumyantsev A.G. - Doctor of medical science, Evgrafov O.V. – Doctor of biological science
7	Chukhrova A.L. Analysis of mutations in the dystrophin gene	RCMG RAMS	1997	RCMG RAMS	Genetics - 03.00.15	Candidate of medical science	Prof. Evgrafov O.V. – Doctor of biological science
8	Osipova G.R. Study of the SRY gene in some sex determination disorders (XY "pure" form of gonadal dysgenesis, Shershevsky-Turner syndrome, XX sex inversion)	Russian Medical Academy of Postgraduate Education	1997	RCMG RAMS	Genetics - 03.00.15	Candidate of medical science	Prof. Kozlova S.I., Doctor of biological science Evgrafov O.V. – Doctor of biological science
9	Sarycheva Е.А. Phenotypic effects of heterozygous carriage of the phenylalanine hydroxylase gene mutations	Kursk State Medical University	1999	RCMG RAMS	Genetics - 03.00.15	Candidate of biological science	Prof. Ivanov V.P. – Doctor of medical science
10	Karunas A.S. Study of mutations leading to Wilson-Konovalov disease in Bashkortostan	RAS Ufa Research Center	1999	Bashkir State Medical University	Biochemistry - 03.00.04 Genetics - 03.00.15	Candidate of medical science	Prof. Khusnutdinova E.K. – Doctor of biological science
11	Ismailov Sh.M. Molecular genetic analysis of hereditary motor and sensory neuropathies in the Voronezh region of the Russian Federation	Russian State Medical University	1999	RCMG RAMS	Genetics - 03.00.15	Candidate of medical science	Prof. Ivanov V.I. – Doctor of biological science, RAMS Academician, Prof. Evgrafov O.V. – Doctor of biological science
12	Shokenova M.U. Gene expression of dystrophin, bacterial b-galactosidase and luciferase in tissues of transformed mice	RCMG RAMS	2000	RCMG RAMS	Genetics - 03.00.15	Candidate of medical science	Prof. Ivanov V.I. – Doctor of biological science, RAMS Academician. Lukasheva L.I. - Candidate of biological science
13	Mersiyanova I.V. Mapping and identification of a new locus of the axonal form of hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease type II)	RCMG RAMS	2001	RCMG RAMS	Genetics - 03.00.15	Candidate of biological science	Prof. Evgrafov O.V. – Doctor of biological science.
14	Shagina I.A. Molecular genetic research of various forms of spinal amyotrophy	FSBI RCMG RAMS	2002	FSBI RCMG RAMS	Genetics - 03.00.15 Molecular Genetics - 03.00.26	Candidate of medical science	Polyakov A.B. - Candidate of biological science
15	Polyakov A.B. Identification Strategy for Genetic Loci in Heterogeneous Mendelian Hereditary Diseases	FSBI RCMG RAMS	2002	FSBI RCMG RAMS	Molecular Genetics - 03.00.26	Doctor of biological science	Ginter E.K. - RAMS Academician Prof. Evgrafov O.V. – Doctor of biological science.
16	Dergacheva A.Yu. Molecular genetic study of testicular feminization syndrome	Russian Medical Academy of Postgraduate Education	2002	FSBI RCMG RAMS	Genetics - 03.00.15 Molecular Genetics - 03.00.26	Candidate of biological science	Osipova G.R. - Candidate of medical science Polyakov A.V. - Candidate of biological science
17	Zalklyazminskaya E.V. Molecular Genetic Analysis of Long QT Syndrome	Russian Medical Academy of Postgraduate Education	2002	FSBI RCMG RAMS	Genetics - 03.00.15 Cardiology - 14.00.06	Candidate of medical science	Polyakov A.V. - Candidate of biological science Prof. Shkolnikova M.A. - Doctor of medical science
18	Chernykh V.B. Microdeletion analysis of the AZF locus as part of a comprehensive clinical and genetic examination of men with azoospermia and oligozoospermia	FSBI RCMG RAMS	2002	FSBI RCMG RAMS	Genetics - 03.00.15 Molecular Genetics - 03.00.26	Candidate of medical science	Prof. Kurilo L.F. - Doctor of biological science, Polyakov A.V - Doctor of biological science
19	Baryshnikova N.V. Clinical and genetic analysis of hereditary diseases of the nervous system in the Vladimir region	Russian State Medical University (GOU VPO RSMU Roszdrav)	2002	GOU VPO RSMU Roszdrav	Genetics - 03.00.15 Nervous diseases - 14.00.13	Candidate of medical science	Ivanov V.I. – Doctor of biological science, RAMS Academician. Prof. Dadali E.L. - Doctor of medical science
20	Karamova A.E. The importance of mycoplasmas in the development of urogenital tract inflammatory diseases, and genetic aspects of antibiotic resistance, management tactics	Russian State Medical University (GOU VPO RSMU Roszdrav)	2003	GOU VPO RSMU Roszdrav	Skin and venereal diseases – 14.00.11 Genetics – 03.00.15	Candidate of medical science	Prof. Khamaganova I.V. - Doctor of medical science, Prof. Polyakov A.V - Doctor of biological science
21	Azarova V.N. Search for genetic markers associated with psoriasis and improved therapy for children and adolescents	Russian State Medical University (GOU VPO RSMU Roszdrav)	2003	GOU VPO RSMU Roszdrav	Skin and venereal diseases – 14.00.11 Genetics – 03.00.15	Candidate of medical science	Prof. Khamaganova I.V. - Doctor of medical science, Prof. Polyakov A.V - Doctor of biological science
22	Kirilenko N.B. Features of nosological spectrum and clinical and genetic characteristics of nervous system hereditary diseases in the cities of Volgograd and Volzhsky	Russian State Medical University (GOU VPO RSMU Roszdrav)	2004	GOU VPO RSMU Roszdrav	Genetics - 03.00.15 Nervous diseases - 14.00.13	Candidate of medical science	Ivanov V.I. – Doctor of biological science, RAMS Academician. Prof. Dadali E.L. - Doctor of medical science
23	Sharkova I.V. Clinical and genetic analysis of hereditary motor-sensory neuropathy type 1X		2004	GOU VPO RSMU Roszdrav	Genetics - 03.00.15 Nervous diseases - 14.00.13	Candidate of medical science	Prof. Polyakov A.V - Doctor of biological science, Prof. Dadali E.L. - Doctor of medical science
24	Kovalevskaya T.S. The effect of alleles of the HLA class II system polymorphic genes, folate metabolism, hemostasis and detoxification on human reproduction	FSBI RCMG RAMS	2005	FSBI RCMG RAMS	Genetics - 03.00.15	Candidate of medical science	Tverskaya S.M. - Candidate of medical science
25	Stepanova А.А. Study of molecular genetic nature of phenylketonuria in samples of Russian patients	FSBI RCMG RAMS	2005	FSBI RCMG RAMS	Genetics - 03.00.15	Candidate of medical science	Tverskaya S.M. - Candidate of medical science
26	Bliznetz E.A. Molecular and genetic cause of osteopetrosis in Chuvashia	FSBI RCMG RAMS	2007	FSBI RCMG RAMS	Genetics - 03.00.15	Candidate of medical science	Prof. Polyakov A.V - Doctor of biological science
27	Kurnikova M.A. Clinical and molecular genetic research on the classical type of Ehlers-Danlos syndrome	FSBI RCMG RAMS	2007	GOU VPO RSMU Roszdrav	Genetics - 03.00.15	Candidate of medical science	Prof. Mutovin G.R. - Doctor of medical science, Prof. Polyakov A.V - Doctor of biological science
28	Zaklyazminskaya E.V. Genetic basis of heart rhythm disturbances	FSBI RCMG RAMS	2007	FSBI RCMG RAMS	Genetics - 03.00.15 Cardiology- 14.00.06	Doctor of medical science	Polyakov A.V - Doctor of biological science. Prof. Revishvily A.Sh. corresponding member of RAMS, Doctor of medical science
29	Vasserman N.N. Study of the molecular genetic causes of autosomal recessive erythrocytosis in Chuvashia	FSBI RCMG RAMS	2007	FSBI RCMG RAMS	Genetics - 03.00.15	Candidate of medical science	Polyakov A.V - Doctor of biological science
30	Shchagina O.A. Clinical and genetic analysis of hereditary axonopathies due to impaired chondrioma formation	FSBI RCMG RAMS	2007	FSBI RCMG RAMS	Genetics - 03.00.15 Molecular Genetics - 03.00.26	Candidate of medical science	Prof. Dadali E.L. - Doctor of medical science, Polyakov A.V - Doctor of biological science
31	Fetisova I.N. Hereditary factors in various forms of disorders of the reproductive function of a married couple	FSI V.N. Gorodkov’s Ivanovsky Maternal and Child Research Institute, Roszdrav	2007	People’s Friendship University of Russia	Genetics - 03.00.15	Doctor of medical science	Polyakov A.V - Doctor of biological science. Prof. Posiseyeva L.V. Doctor of medical science.
32	Markova T.G. Clinical and genetic analysis of congenital and pre-speech hearing loss		2008	State Budgetary Institution of Health Research Clinical Institute of Otorhinolaryngology named after L. I. Sverzhevsky Department of Health in Moscow	Ear, nose and throat diseases - 14.00.04 Genetics - 03.00.15	Doctor of medical science	Prof. Kunelskaya N.L. - Doctor of medical science. Prof. Polyakov A.V - Doctor of biological science.
33	Malakhinova N.A. Clinical and genetic associations of gene polymorphism of the immunoreceptor apparatus and inflammatory bowel diseases in children	Russian State Medical University (GOU VPO RSMU Roszdrav)	2010	GOU VPO RSMU Roszdrav	Pediatrics - 14.01.08	Candidate of medical science	Shumilov P.V. - Candidate of medical science, Associate Professor, Prof. Polyakov A.V - Doctor of biological science
34	Ryzhkova O.P. Clinical and molecular genetic analysis of isolated waist-limb muscular dystrophies, which are fermentopathies	FSBI RCMG RAMS	2011	FSBI RCMG RAMS	Genetics - 03.02.07	Candidate of medical science	Shchagina O.A. - Candidate of medical science, Prof. Dadali E.L. - Doctor of medical science
35	Milovidova T.B. Clinical and molecular genetic analysis of hereditary motor-sensory neuropathy type I	FSBI RCMG RAMS	2011	FSBI RCMG RAMS	Genetics - 03.02.07	Candidate of medical science	Prof. Dadali E.L. - Doctor of medical science, Prof. Polyakov A.V - Doctor of biological science
36	Milovanova N.V. Molecular and genetic nature of primary hemophagocytic lymphohistiocytosis in Russia	FSBI RCMG RAMS	2011	FSBI RCMG RAMS	Genetics – 03.02.07 Hematology and blood transfusion – 14.01.21	Candidate of medical science	Prof. Polyakov A.V - Doctor of biological science, Maschan M.A. - Candidate of medical science
37	Zabnenkova V.V. The value of determining the number of copies of the 5q13 locus genes in the diagnosis of proximal spinal muscle atrophies of type I-IV	FSBI RCMG RAMS	2012	FSBI RCMG RAMS / D 001.016.01	Genetics - 03.02.07	Candidate of medical science	Prof. Polyakov A.V - Doctor of biological science, Prof. Dadali E.L. - Doctor of medical science
38	Ganeyeva N.M. The molecular genetic nature of hereditary methemoglobinemia	FSBI RCMG RAMS	2012	FSBI RCMG RAMS / D 001.016.01	Genetics - 03.02.07	Candidate of medical science	Prof. Polyakov A.V - Doctor of biological science
39	Zinovieva A.I. The role of genetic factors in the development of aggressive periodontitis	GBOU VPO MGMSU	2012	GBOU VPO MGMSU / D208.041.07	14.01.14- Dentistry 03.02.07-Genetics	Candidate of medical science	Prof. Atrushkevich V.G.– Doctor of medical science, Prof. Polyakov A.V - Doctor of biological science
40	Dmitriyeva A.V. Hereditary angioedema: genetic aspects, differential diagnosis	SRC Institute of Immunology, FMBA	2012	SRC Institute of Immunology, FMBA / D 208.017.01	4.03.09 – Clinical Immunology, Allergology 03.02.07 – Genetics	Candidate of medical science	Prof. Latysheva T.V. Doctor of medical science, Prof. Polyakov A.V - Doctor of biological science
41	Prikhodina L.S. Clinical and genetic patterns of steroid-resistant nephrotic syndrome progression in children and the effectiveness of immunosuppressive therapy		2012	Moscow Research Institute of Pediatrics and Pediatric Surgery / D 208.043.0	14.01.08- Pediatrics, 03.02.07 – Genetics	Doctor of medical science	Prof Dlin V.V.– Doctor of medical science, Prof. Polyakov A.V - Doctor of biological science
42	Ivanova E.A. Molecular genetic analysis of non-dystrophic myotonia in the Russian Federation	FSBI RCMG RAMS	2013	FSBI RCMG RAMS / D 001.016.01	Genetics - 03.02.07	Candidate of medical science	Prof. Polyakov A.V - Doctor of biological science
43	Khanakova N.A. Clinical, molecular genetic and cytological analysis of hereditary optical neuropathies	FSBI Research Institute of Eye Diseases RAMS	2014	FSBI Research Institute of Eye Diseases RAMS / D 001.040.01	14.01.07 – Eye diseases	Candidate of medical science	Sheremet N.L.– Candidate of medical science Prof. Polyakov A.V - Doctor of biological science
44	Adyan T.A. Clinical and genetic diversity and molecular diagnostics of Emery - Dreifuss muscular dystrophy	FSBI RCMG	2015	FSBI RCMG	03.02.07 - Genetics 14.01.11 – Nervous diseases	Candidate of medical science	Prof. Polyakov A.V - Doctor of biological science Rudenskaya G.E.- Doctor of medical science

Publications

Polyakov A.V., Zaitseva S.P., Evgrafov O.V. The use of non-radioactively labeled DNA probes for Duchenne myodystrophy DNA diagnostics. // Molec. Genetics, Microbiol. and Virology.- 1991.- V.5.- P. 21-23.
Evgrafov O. V., Polyakov A. V., Zaitseva S. P., Vinogradov S. V., Bakharev V. A., Milman F. A., Lisova T. A., Zaretskaya E. A., Malygina N.A., Badalyan L.O., Makarov V.B. Prenatal diagnosis of Duchenne modystrophy. // Molec. Genetics, Microbiol. and Virology.- 1991.- V.2.- P. 15-16
Malysheva O.V., Polyakov A.V., Zaitseva S.P., Malygina N.A., Gorbunova V.N., Evgrafov O.V., Makarov V.B., Krasilnikov V.V., Baranov V .S., Badalyan L.O. Analysis of deletions in the dystrophin gene by multiplex amplification in patients suffering from Duchenne myodystrophy. // Molec. Genetics, Microbiol. and Virology.- 1992.- No. 5-6. - P. 27-31
Baranov V.S., Gorbunova V.N., Malysheva O.V., Artemyeva O.V., Kascheeva T.K., Evgrafov O.V., Polyakov A.V., Lebedev V.M., Kuznetsova T.V., Shlykova S.N., Mikhailov A.V., Vakharlovsky V.G. Dystrophin gene analysis and prenatal diagnosis of Duchenne muscular dystrophy in Russia // Prenatal diagnosis. - 1993. -Vol. 13, №5. - P.323 - 333.
Petrukhin K., Fischer S.G., Pirastu M., Tanzi R.E., Chernov I., Devoto M., Brzustowicz L.M., Cayanis E., Vitale E., Russo J.J., Matseoane D., Boukhgalter B., Wasco W., Figus A.L., Loudianos J.,Cao A., Sternlieb I., Evgrafov O., Parano E., Pavone L.,Warburton D., Ott J., Penchaszadeh G.K., Scheinberg I.H., Gilliam C. Mapping, cloning and genetic characterization of the region containing the Wilson disease gene // Nature Genetics. - 1993. -Vol. 5. - P. 338-343.
Tanzi R.E., Petrukhin K., Chernov I., Pellequer J.L., Wasco W., Ross B., Romano D.M., Parano E., Pavone L., Brzustowicz L.M., Devoto M., Peppercorn J., Bush A.I., Sternlieb I., Pirastu M., Gusella J.F., Evgrafov O., Penchaszadeh G.K., Honig B., Edelman I.S., Soares M.B., Scheinberg I.H., Gilliam C. The Wilson Disease gene is a copper transporting ATPase with homology to the Menkes disease gene // Nature Genetics. - 1993. - Vol. 5. - P. 344-350.
Chukhrova A.L., Malygina N.A., Polyakov A.V., Zaitseva S.P., Sitnikov V.F., Dadali E.L., Kamennykh L.N., Khrennikov V.Yu., Badalyan L. .O., Evgrafov O.V. Screening of deletions in patients with Duchenne myodystrophy using multiplex amplification method // Cytology and Genetics - 1994 / - V.28, No. 4. - P. 80-83
Evgrafov O.V. Genetic archeology: a new approach to the study of the genetic history of populations // Dokl. Ak. Nauk. - 1994. - V. 338. - P. 822-826
Dzenis I.G., Evgrafov O.V., Brykova E.K., Iudina T.N., Bakharev V.A., Fanchenko N.D. Congenital dysfunction of adrenal cortex - detection of new mutant gene of 21-hydroxylase // Vestn Ross Akad Med Nauk. - 1994. - Vol. 12. - P. 29-33.
Evgrafov O.V., Polyakov A.V., Dzenis I.G., Baharev V.A. Preliminary investigation of mutations in 21-hydroxylase gene in patients with congenital adrenal hyperplasia in Russia // Human Mutation. - 1995. - Vol. 5. - P. 131-136.
Shagina I., Dadali H.L., Sitnikov V.P., Pugachev V.V., Malygina N.A., Evgrafov O.V. Prenatal diagnosis of spinal muscular atrophy in Russia // Prenatal Diagnosis. - 1995. - Vol.15. - P. 27-34.
Tverskaya S., Bobrynina V., Tsalykova F., Ignatova M., Krasnopolskaya X., Evgrafov O. (1996) "Substitution of Alanine 1498 to Aspartate in NonCollagen Domain of a5(IV) Collagen Chain Associated with Adult-onset X-linked Alport Syndrome" Human Mutation 7: 149-150.
Zerjal T., Dashnyam B., Pandya A., Kayser M., Roewer L., Santos F.R., Schiefenhovel W., Fretwell N., Jobling M.A., Harihara S., Shimizu K., Semjidmaa D., Sajantila A., Salo P., Crawford M.H., Ginter E.K., Evgrafov O.V. and Tyler-Smith C. (1997) Genetic relationships of Asians and Northern Europeans, revealed by Y-chromosomal DNA analysis. Am. J. Hum. Genet. 60, 5, 1174-1183.
Shah A.B., Chernov I., Zhang H.T., Ross B.M., Das K., Lutsenko S., Parano E., Pavone L., Evgrafov O., Ivanova-Smolenskaya I.A., Anneren G., Westermark K., Urrutia F.H., Penchaszaden G.K., Sternlieb I., Scheinberg I.H., Gilliam T.C., Petrukhin K. (1997) Identification and analysis of mutations in the Wilson disease gene (ATP7B): Population frequencies, genotype-phenotype correlation, and functional analyses. Am. J. H. Genet. 61: 317-328.
Zelenin AV, Kolesnikov VA, Tarasenko OA, Shafei RA, Zelenina IA, Mikhailov VV, Semenova ML, Kovalenko DV, Artemyeva OV, Ivaschenko TE, Evgrafov OV, Dickson G, Baranov VS (1997) Bacterial beta-galactosidase and human dystrophin genes are expressed in mouse skeletal muscle fibers after ballistic transfection. FEBS Lett;414(2):319-322.
Tverskaya SM, Dadali EL, Evgrafov OV (1997) Prenatal DNA diagnosis on demand--a possible new approach to DNA service provision. Prenat Diagn 1997 Oct;17(10):989-990.
Gelfand MS, Pugachev VV, Evgrafov OV (1997) A new member of the MER2 repeat family is detected in the promoter region of the human X11 gene. Dokl Akad Nauk 1997 Jun;354(5):690-695.
Polyakov A., Dzenis I., Baharev V., Evgrafov O.V. (1997) High frequency of a splice mutation in intron 2 of the 21-hydroxylase gene in Russia could be partly explained by a founder effect. Human mutation, Mutation in brief. #33 (1997) On-line, or Hum Mutat. 1998; (6): S53-S54.
G.R. Osipova, M.E. Karmanov, S.I. Kozlova, O.V. Evgrafov (1998) PCR detection of Y-specific sequences in patients with Ullrich-Turner syndrome: Clinical implications and limitations Am. J. Med. Genet. 76(4):283-287.
Fofanova O, Takamura N, Kinoshita E, Parks JS, Brown MR, Peterkova VA, Evgrafov OV, Goncharov NP, Bulatov AA, Dedov II, Yamashita S 1998 Compound heterozygous deletion of the PROP-1 gene in children with combined pituitary hormone deficiency. J Clin Endocrinol Metab Jul;83(7):2601-4.
Fofanova OV, Takamura N, Kinoshita E, Yoshimoto M, Tsuji Y, Peterkova VA, Evgrafov OV, Dedov II, Goncharov NP, Yamashita S Rarity of PIT1 involvement in children from Russia with combined pituitary hormone deficiency.Am J Med Genet 1998 Jun 5;77(5):360-5.
Fofanova O, Takamura N, Kinoshita E, Meerson E.M., Iljina V., Nechvolodova O.L., Evgrafov OV, Peterkova VA, Yamashita S 1998 A missense mutation of C1659 in the fibroblast growth factor receptor 3 gene in Russian patients with hypochondroplasia. Endocrin Journal 45 (6): 791-795.
Vasserman NN, Karzakova LM, Tverskaya SM, Saperov VN, Muchukova OM, Pavlova GP, Efimova NK, Vankina NN, Evgrafov OV Localization of the gene responsible for familial benign polycythemia to chromosome 11q23.Hum Hered 1999 Jun;49(3):129-32.
Mersiyanova IV, Ismailov SM, Polyakov AV, Dadali EL, Fedotov VP, Nelis E, Lofgren A, Timmerman V, Van Broeckhoven C, Evgrafov OV. (2000) Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients. Hum Mutat. 2000 Apr;15(4):340-347.
Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am. J. Hum. Genet. 2000 Jul 67:37–46.
Anichkina, T. Kulenich, S. Zinchenko, I. Shagina, A. Polyakov, E. Ginter, O. Evgrafov, Т. Viktorova, E Khusnitdonova. On the origin and freguency of the 35 delG allele in GJB2-linked deafness in Europe. Eur. J. Hum. Gen. 2001, v.9, p 151.
Ismailov S.M., Fedotov V.P., Dadali E.L., Polyakov A.V., Van Broeckhoven C., Ivanov V.I., De Jonghe P., Timmerman V., Evgrafov O.V. A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2F) maps to chromosome 7q11-q21. Eur J Hum Genet. 2001 Aug;9(8):646-50.
De Jonghe P., Mersivanova I., Nelis E., Del Favero J., Martin J.J., Van Broeckhoven C., Evgrafov O., Timmerman V. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 2001;49(2): 245-9.
Polyakov A.V., Shagina I.A., Khlebnikova O.V., Evgrafov O.V. Mutation in the connexin 50 gene (GJA8) in a Russian family with zonular pulverulent cataract. Clinical Genetics – 2001- 60 (6): 476-478.
Resnick IB, Kondratenko I, Togoev O, Vasserman N, Shagina I, Evgrafov O, Tverskaya S, Cerosaletti KM, Gatti RA, Concannon P. Nijmegen breakage syndrome: clinical characteristics and mutation analysis in eight unrelated Russian families. J Pediatr 2002 Mar;140(3):355-61.
Igor B. Resnick, Irina Kondratenko, Eugeni Pashanov,Alexey A. Maschan, Alexander Karachunsky, Oleg Togoev, Andrey Timakov, Alexander Polyakov, Svetlana Tverskaya, Oleg Evgrafov, and Alexander G. Roumiantsev. 657del5 Mutation in the Gene for Nijmegen Breakage Syndrome (NBS1) in a Cohort of Russian Children With Lymphoid Tissue Malignancies and Controls. // American Journal of Medical Genetics 120A:174-179 (2003)
Zuchner S, Mersiyanova IV, Muglia M, Bissar-Tadmouri N, Rochelle J, Dadali EL, Zappia M, Nelis E, Patitucci A, Senderek J, Parman Y, Evgrafov O, Jonghe PD, Takahashi Y, Tsuji S, Pericak-Vance MA, Quattrone A, Battologlu E, Polyakov A, Timmerman V, Schroder JM, Vance JM. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. // Nat Genet. 2004 May; 36(5):449-51.
Evgrafov OV, Mersiyanova I, Irobi J, Van Den Bosch L, Dierick I, Leung CL, Schagina O,Verpoorten N, Van Impe K, Fedotov V, Dadali E, Auer-Grumbach M, Windpassinger C, Wagner K, Mitrovic Z, Hilton-Jones D, Talbot K, Martin JJ, Vasserman N, Tverskaya S, Polyakov A, Liem RK, Gettemans J, Robberecht W, De Jonghe P, Timmerman V. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.// Nat Genet. 2004 Jun;36(6):602-6.
N.N.Vasserman, S.M.Tverskaya, A.V.Polyakov Coinheritance of Chromosomes 3 and 11 in the Patients with Autosomal Recessive Polycythemia from Chuvachia.// Russian Journal of Genetics, 2005, v.41, N.9, pp.1035-1039.
Kondratenko I, Paschenko O, Polyakov A, Bologov A. "Nijmegen breakage syndrome." Adv Exp Med Biol. 2007;601:61-7. Review.
Chernykh V.B., Chukhrova A.L., Vasserman N.N., Ilyina E.V., Karmanov M.E., Fedotov V.P., Kurilo L.F., Polyakov A.V. Molecular analysis of Y-chromosome in patients with XX-gender inversion. // Genetics.-2008-v.44-No.2-p.236-241
Rudenskaya GE, Polyakov AV, Tverskaya SM, Zaklyazminskaya EV, Chukhrova AL, Groznova OE, Ginter EK. «Laminopathies in Russian families.» // Clin Genet. 2008 Aug;74(2):127-33. Epub 2008 Jun 28.
Kurnikova M, Shagina I, Khachatryan L, Schagina O, Maschan M, Shagin D. , "Identification of a novel mutation in DKC1 in dyskeratosis congenita." // // Pediatr Blood Cancer. 2008 Sep 18.
Semyachkina A.N., Polyakov A.V., Novikov P.V., Kamenets E.A., Shchagina O.A., Voinova V.Yu., Yablonskaya M.I., Kharabadze M.N., Ayrapetova N .S., Stickler Type I Syndrome in Children // Russian Bulletin of Perinatology and Pediatrics, vol. 54, N3, 2009, p. 45-51
Chernykh VB, Kurilo LF, Shilova NV, Zolotukhina TV, Ryzhkova OP, Bliznetz EA, Polyakov AV., Hidden X chromosomal mosaicism in a 46,XX male. // Sex Dev. 2009;3(4):183-7. Epub 2009 Sep 11. PubMed PMID: 19752597.
Toth B, Volokha A, Mihas A, Pac M, Bernatowska E, Kondratenko I, Polyakov A, Erdos M, Pasic S, Bataneant M, Szaflarska A, Mironska K, Richter D, Stavrik K, Avcin T, Marton G, Nagy K, Derfalvi B, Szolnoky M, Kalmar A, Belevtsev M, Guseva M, Rugina A, Krivan G, Timar L, Nyul Z, Mosdosi B, Kareva L, Peova S, Chernyshova L, Gherghina I, Serban M, Conley ME, Notarangelo LD, Smith CI, van Dongen J, van der Burg M, Marodi L., Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study. // Mol Immunol. 2009 Jun;46(10):2140-6. Epub 2009 May 5. PubMed PMID: 19419768.
Bliznetz EA, Tverskaya SM, Zinchenko RA, Abrukova AV, Savaskina EN, Nikulin MV, Kirillov AG, Ginter EK, Polyakov AV, Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect // Eur J Hum Genet. 2009 May;17(5):664-72. Epub 2009 Jan 28. PubMed PMID: 19172990.
Dadali E.L., Rudenskaya G.E., Shchagina O.A., Tiburkova TB, Sukhorukov V.S., Kharlamov D.A., Polyakov A.V. Merozin-deficient congenital muscular dystrophy (CMD1A) // Journal of Neurology and Psychiatry. Korsakova S.S., No. 3, 2010, p. 83-89
Dadali E.L., Shchagina O.A., Ryzhkova O.P., Rudenskaya G.E. , Fedotov V.P. , Polyakov A.V. Peculiarities of clinical manifestations of type 2A progressive muscular dystrophy in Russian patients // Journal of Neurology and Psychiatry named after Korsakov S.S.. 2010., N4, p. 79-83
Milovidova T.B., Dadali E.L., Fedotov V.P., Shchagina O.A., Polyakov A.V. Clinical and genetic correlations in hereditary motor-sensory neuropathy caused by the MPZ (P0) gene mutations. // Journal of Neurology and Psychiatry named after Korsakov S.S. No. 12 2011, p. 48-55
Amosenko F.A., Karpov I.V., Polyakov A.V., Kovalenko S.P., Shamanin V.A., Lyubchenko L.N. Comparison of different methods of molecular genetic analysis of somatic mutations in the K-ras gene in colorectal cancer // Vestnik RAMS. Moscow. The Medicine. 2012. N 2, p. 35-41
Bliznets E.A., Galkina V.A., Matyuschenko G.N., Kisina A.G., Markova T.G., Polyakov A.V. Changes in the connexin 26 gene - GJB2 - in hearing impairment in Russian patients: results of many years of molecular diagnosis of hereditary non-syndromal hearing loss. // Genetics - 2012 - Volume 48, No. 1, p. 112–124
Ivanova E.A., Dadali E. L., Fedotov V. P., Kurbatov S. A., Rudenskaya G. E., Proskokova T. N., Polyakov A. V. Mutation spectrum in the CLCN1 gene in patients with non-dystrophic myotonia of Thomsen and Becker. // Genetics, 2012, Volume 48, No. 9, p. 1113-1123
Stepanova A.A., Abrukova A.V., Savaskina E.N., Polyakov A.V. The p.E92K mutation is the main cause of cystic fibrosis in the Chuvash. // Genetics - 2012, Volume 48, No. 7, P. 863-871
Zabnenkova V.V., Dadali E.L., Spiridonova M.G., Zinchenko R.A., Polyakov A.V. Carrier frequency of proximal spinal muscular atrophy of types I-IV in Chuvash, Udmurts, and residents of the Moscow region // Genetika - 2012, Volume 48, No. 8 P. 983-992
Galeyeva N.M., Nenasheva S.A., Kleimenova I.S., Polyakov A.V. New large deletion p.22-1320_633 + 1224del in the CYB5R3 gene in patients with hereditary methemoglobinemia // Genetics. - 2012.-vol. 48., No. 11.- P. 1336–1346. IF 0,582
Amosenko F.A., Karpov I.V., Polyakov A.V., Kovalenko S.P., Shamanin V.A., Lyubchenko L.N. Comparison of different methods of molecular genetic analysis of somatic mutations in the K-ras gene in colorectal cancer // Vestnik RAMS. 2012, No.2, p. 35-42
Sharkova I.V., Milovidova T.B., Dadali E.L., Polyakov A.V. Clinical and genetic characteristics of hereditary motor-sensory neuropathy of type 1 X (publications review and results of our own research) // Journal of Neurology and Psychiatry named after S.S. Korsakov. 2012, No.7 p. 42-47. IF 0,483
Ryzhkova O.P., Sharkova I.V., Dadali E.L., Petrunina E.L., Polyakov A.V. Clinical and genetic analysis of the waist-limb muscle dystrophy of type 2I. // Journal of Neurology and Psychiatry named after Korsakov, 2012 №6 p. 55-59 IF 0.483
Galeyeva N.M., Voyevoda M.I., Spiridonova M.G., Stepanov V.A., Polyakov A.V. The population frequency and age of the c.806C> T mutation in the CYB5R3 gene, which is the cause of hereditary methemoglobinemia of the first type in Yakutia. // Genetics, 2013, Volume 49, No. 4, p. 523-530 IF 0.582
Ivanova E.A., Polyakov A.V. The population frequency and causes of the prevalence in the Russian population of the mutation of the ARG894 * gene in the CLCN1 gene that controls the development of Thomsen and Becker myotonia // Genetics 2013, Volume 49, No. 9, p. 1–9 IF 0.582
Knappskog S, Gansmo LB, Dibirova K, Metspalu A, Cybulski C, Peterlongo P,Aaltonen L, Vatten L, Romundstad P, Hveem K, Devilee P, Evans GD, Lin D, Van Camp G, Manolopoulos VG, Osorio A, Milani L, Ozcelik T, Zalloua P, Mouzaya F, Bliznetz E, Balanovska E, Pocheshkova E, Kučinskas V, Atramentova L, Nymadawa P, Titov K, Lavryashina M, Yusupov Y, Bogdanova N, Koshel S, Zamora J, Wedge DC, Charlesworth D, Dörk T, Balanovsky O, Lønning PE. Population distribution and ancestry of the cancer protective MDM2 SNP285 (rs117039649)// Oncotarget, 2014, Sep 30;5(18):8223-34. PubMed PMID: 25327560
Bliznets E.A., Martsul D.N., Khorov O.G., Markova T.G., Polyakov A.V. The mutation spectrum in the GJB2 gene in Belarusian patients with hearing loss. Results of the pilot genetic screening of hearing impairment in newborns of the Grodno region, Belarus. // Genetics, 2014, Volume 50, No. 2, p. 214-222
Bliznets E.A., Makienko O.N., Okuneva E.G., Markova T.G., Polyakov A.V. A new recurring extended deletion, including the GJB2 and GJB6 genes, leads to isolated sensorineural hearing impairment with an autosomal recessive type of inheritance.// Genetics, 2014, Volume 50, No. 4, p. 474-480
Zabnenkova V.V., Dadali E.L., Artemieva S.B., Sharkova I.V., Rudenskaya G.E., Polyakov A.V. SMN1 gene point mutations in type I–IV proximal spinal muscular atrophy patients with a single copy of SMN1 // Russian Journal of Genetics, 2015, Vol. 51, No. 9, pp. 925–931.
Zabnenkova V.V., Dadali E.L., Artemyeva S.B., Sharkova I.V., Rudenskaya G.E., Polyakov A.V. SMN1 gene point mutations in type I–IV proximal spinal muscular atrophy patients with a single copy of SMN1// Genetics, 2015, v. 51, No. 9, p. 1075-1082
Semyachkina A.N., Adyan T.A., Kharabadze M.N.,. Novikov P.V., Polyakov A.V. Clinical and genetic characteristics of Marfan syndrome in patients from Russia // Genetics. 2015, T. 51, No. 7, p. 812

Диссертации

№	Ф.И.О. Диссертанта, наименование диссертации	Место работы диссертанта	Год защиты	Место защиты	Специальность, шифр	Ученая степень	Научные руководители, консультанты
1	Поляков А.В. Полиморфные маркеры ДНК для ДНК-диагностики миодистрофииДюшенна	МГНЦ РАМН	1992	МГНЦ РАМН	Генетика - 03.00.15	к.б.н.	Евграфов О.В. - к.б.н.
2	Евграфов О.В. Картирование и изучение тонкой структуры некоторых генов человека и разработка на этой основе ДНК-диагностики наследственных заболеваний	МГНЦ РАМН	1992	МГНЦ РАМН	Генетика - 03.00.15	д.б.н.	Гинтер Е.К. - д.б.н., проф.
3	Пугачев В.В. Исследование области генома, ответственной за атаксию Фридрейха, с целью уточнения локализации гена и разработки ДНК-диагностических процедур заболевания	МГНЦ РАМН	1993	МГНЦ РАМН	Генетика - 03.00.15	к.б.н.	Евграфов О.В. - д.б.н.
4	Тверская С.М. Молекулярно-генетическое исследование X-сцепленного синдрома Альпорта	МГНЦ РАМН	1995	МГНЦ РАМН	Генетика - 03.00.15	к.м.н.	Евграфов О.В. - д.б.н.
5	Бобрынина В.О. Изучение структуры и полиморфизма генов второго класса комплекса гистосовместимости DMA и DMB	НИИ детской гематологии МЗ РФ	1995	МГНЦ РАМН	Генетика - 03.00.15	к.м.н.	Евграфов О.В. - д.б.н.
6	Петрухин А.А. Молекулярная диагностика и медико-генетический прогноз спинальной и бульбарной амиотрофии Кеннеди у детей и подростков	НИИ детской гематологии МЗ РФ	1996	НИИ детской гематологии МЗ РФ	Педиатрия - 14.00.09; Генетика - 03.00.15	к.м.н.	Румянцев А.Г. - д.м.н., проф., Евграфов О.В. - д.б.н.
7	Чухрова А.Л. Анализ мутаций в гене дистрофина	МГНЦ РАМН	1997	МГНЦ РАМН	Генетика - 03.00.15	к.м.н.	Евграфов О.В. - д.б.н., проф.
8	Осипова Г.Р. Исследование гена SRY при некоторых нарушениях детерминации пола (XY "чистой" форме дисгенезии гонад, синдроме Шершевского-Тернера, XX инверсии пола)	Российская медицинская академия последипломного образования	1997	МГНЦ РАМН	Генетика - 03.00.15	к.м.н.	Козлова С.И. - д.м.н.,проф., Евграфов О.В. - д.б.н., проф.
9	Сарычева Е.А. Фенотипические эффекты гетерозиготного носительства мутаций гена фенилаланингидроксилазы	Курский государственный медицинский университет	1999	МГНЦ РАМН	Генетика - 03.00.15	к.б.н.	Иванов В.П. - д.м.н., проф.
10	Карунас А.С. Исследование мутаций, приводящих к болезни Вильсона-Коновалова в Башкортостане	Уфимский научный центр РАН	1999	Башкирский государственный медицинский университет	Биохимия - 03.00.04 Генетика - 03.00.15	к.м.н.	Хуснутдинова Э.К. - д.б.н., проф.
11	Исмаилов Ш.М. Молекулярно-генетический анализ наследственных моторно-сенсорных нейропатий в Воронежской области Российской Федерации	Российский Государственный Медицинский Университет	1999	МГНЦ РАМН	Генетика - 03.00.15	к.м.н.	Иванов В.И. - академик РАМН, д.б.н., проф. Евграфов О.В. - д.б.н., проф.
12	Шокенова М.У. Экспрессия генов дистрофина, бактериальной b-галактозидазы и люциферазы в тканях трансформированных мышей	МГНЦ РАМН	2000	МГНЦ РАМН	Генетика - 03.00.15	к.м.н.	Иванов В.И. - академик РАМН, д.б.н., проф. Лукашева Л.И. - к.б.н.
13	Мерсиянова И.В. Картирование и идентификация нового локуса аксональной формы наследственной мото-сенсорной нейропатии (болезни Шарко-Мари-Тута II типа)	МГНЦ РАМН	2001	МГНЦ РАМН	Генетика - 03.00.15	к.б.н	Евграфов О.В. - д.б.н., проф.
14	Шагина И.А. Молекулярно-генетическое исследование различных форм спинальной амиотрофии	ГУ МГНЦ РАМН	2002	ГУ МГНЦ РАМН	Генетика - 03.00.15 Молекулярная генетика - 03.00.26	к.м.н.	Поляков А.В. - к.б.н.
15	Поляков А.В. Стратегия идентификации генетических локусов при гетерогенных менделирующихнаследственных заболеваниях	ГУ МГНЦ РАМН	2002	ГУ МГНЦ РАМН	Молекулярная генетика - 03.00.26	д.б.н.	Гинтер Е.К. - академик РАМН Евграфов О.В. - д.б.н., проф.
16	Дергачева А.Ю. Молекулярно-генетическое исследование синдрома тестикулярной феминизации	Российская медицинская академия последипломного образования	2002	ГУ МГНЦ РАМН	Генетика - 03.00.15 Молекулярная генетика - 03.00.26	к.б.н.	Осипова Г.Р. - к.м.н. Поляков А.В. - к.б.н.
17	Заклязьминская Е.В. Молекулярно-генетический анализ синдрома удлиненного интервала QT	Российская медицинская академия последипломного образования	2002	ГУ МГНЦ РАМН	Генетика - 03.00.15 Кардиология - 14.00.06	к.м.н.	Поляков А.В. - к.б.н. Школьникова М.А. - д.м.н., проф.
18	Черных В.Б. Микроделеционный анализ AZF-локуса в рамках комплексного клинико-генетического обследования мужчин с азооспермией и олигозооспермией	ГУ МГНЦ РАМН	2002	ГУ МГНЦ РАМН	Генетика - 03.00.15 Молекулярная генетика - 03.00.26	к.м.н.	Курило Л.Ф. - д.б.н., проф. Поляков А.В. - д.б.н.
19	Барышникова Н.В. Клинико-генетический анализ наследственных болезней нервной системы во Владимирской области	Российский Государственный Медицинский Университет (ГОУ ВПО РГМУ Росздрава)	2002	ГОУ ВПО РГМУ Росздрава	Генетика - 03.00.15 Нервные болезни - 14.00.13	к.м.н.	Иванов В.И. - академик РАМН, д.б.н. проф., Дадали Е.Л. - д.м.н.
20	Карамова А.Э. Значение микоплазм в развитии воспалительных заболеваний урогенитального тракта, генетические аспекты резистентности к антибиотикам, тактика ведения больных	Российский Государственный Медицинский Университет (ГОУ ВПО РГМУ Росздрава)	2003	ГОУ ВПО РГМУ Росздрава	Кожные и венерические болезни – 14.00.11 Генетика – 03.00.15	к.м.н.	Хамаганова И.В. - д.м.н., проф., Поляков А.В. - д.б.н., проф.
21	Азарова В.Н. Поиск генетических маркеров, ассоциированных с псориазом, и совершенствование терапии детей и подростков	Российский Государственный Медицинский Университет (ГОУ ВПО РГМУ Росздрава)	2003	ГОУ ВПО РГМУ Росздрава	Кожные и венерические болезни – 14.00.11 Генетика – 03.00.15	к.м.н.	Хамаганова И.В. - д.м.н., проф., Поляков А.В. - д.б.н., проф.
22	Кириленко Н.Б. Особенности нозологического спектра и клинико-генетических характеристик наследственных болезней нервной системы в городах Волгоград и Волжский	Российский Государственный Медицинский Университет (ГОУ ВПО РГМУ Росздрава)	2004	ГОУ ВПО РГМУ Росздрава	Генетика - 03.00.15 Нервные болезни - 14.00.13	к.м.н.	Иванов В.И. - академик РАМН, д.б.н. проф., Дадали Е.Л. - д.м.н.
23	Шаркова И.В. Клинико-генетический анализ наследственной моторно-сенсорной нейропатии 1Х типа		2004	ГОУ ВПО РГМУ Росздрава	Генетика - 03.00.15 Нервные болезни - 14.00.13	к.м.н.	Поляков А.В. - д.б.н., проф., Дадали Е.Л. - д.м.н.
24	Ковалевская Т.С. Влияние аллелей полиморфных генов системы HLA II класса, фолатного обмена, гемостаза и детоксикации на репродукцию человека	ГУ МГНЦ РАМН	2005	ГУ МГНЦ РАМН	Генетика - 03.00.15	к.м.н.	Тверская С.М. - к.м.н.
25	Степанова А.А. Исследование молекулярно-генетической природы фенилкетонурии в выборках российских больных	ГУ МГНЦ РАМН	2005	ГУ МГНЦ РАМН	Генетика - 03.00.15	к.м.н.	Тверская С.М. - к.м.н.
26	Близнец Е.А. Молекулярно-генетическая причина остеопетроза в Чувашии	ГУ МГНЦ РАМН	2007	ГУ МГНЦ РАМН	Генетика - 03.00.15	к.м.н.	Поляков А.В. - д.б.н., проф.
27	Курникова М.А. Клиническое и молекулярно-генетическое исследование классического типа синдрома Элерса-Данлоса	ГУ МГНЦ РАМН	2007	ГОУ ВПО РГМУ Росздрава	Генетика - 03.00.15	к.м.н.	Мутовин Г.Р. - д.м.н., проф. Поляков А.В. - д.б.н., проф.
28	Заклязьминская Е.В. Генетические основы нарушений сердечного ритма	ГУ МГНЦ РАМН	2007	ГУ МГНЦ РАМН	Генетика - 03.00.15 Кардиология - 14.00.06	д.м.н.	Поляков А.В. - д.б.н., проф. Ревишвили А.Ш. - член-корр. РАМН, д.м.н., проф.
29	Вассерман Н.Н. Исследование молекулярно-генетических причин аутосомно-рецессивного эритроцитоза в Чувашии	ГУ МГНЦ РАМН	2007	ГУ МГНЦ РАМН	Генетика - 03.00.15	к.м.н.	Поляков А.В. - д.б.н., проф.
30	Щагина О.А. Клинико-генетический анализ наследственных аксонопатий, обусловленных нарушением формирования хондриома	ГУ МГНЦ РАМН	2007	ГУ МГНЦ РАМН	Генетика - 03.00.15 Молекулярная генетика - 03.00.26	к.м.н.	Дадали Е.Л. - д.м.н., проф., Поляков А.В. - д.б.н., проф.
31	Фетисова И.Н. Наследственные факторы при различных формах нарушения репродуктивной функции супружеской пары	ФГУ Ивановский НИИ материнства и детства им. В.Н.ГородковаРосздрава	2007	РУДН	Генетика - 03.00.15	д.м.н.	Поляков А.В. - д.б.н., проф. Посисеева Л.В. - д.м.н., проф.
32	Маркова Т.Г. Клинико-генетический анализ врожденной и доречевой тугоухости		2008	ГУЗ "МНПЦО" ДЗМ	Болезни уха, горла и носа - 14.00.04 Генетика - 03.00.15	д.м.н.	Кунельская Н.Л. - д.м.н., проф. Поляков А.В. - д.б.н., проф.
33	Малахинова Н.А. Клинико-генетические ассоциации полиморфизма генов иммунорецепторного аппарата и воспалительных заболеваний кишечника у детей	ГОУ "ВПО РГМУ Росздрава"	2010	ГОУ "ВПО РГМУ Росздрава"	Педиатрия - 14.01.08	к.м.н.	Шумилов П.В. - к.м.н., доцент, Поляков А.В. - д.б.н., проф.
34	Рыжкова О.П. Клинико-молекулярно-генетический анализ изолированных поясно-конечностных мышечных дисторофий, являющихся ферментопатиями	ГУ МГНЦ РАМН	2011	ГУ МГНЦ РАМН	Генетика - 03.02.07	к.м.н.	Щагина О.А. - к.м.н., Дадали Е.Л. - д.м.н., профессор
35	Миловидова Т.Б. Клинико-молекулярно-генетический анализ наследственной моторно-сенсорной нейропатии I типа	ГУ МГНЦ РАМН	2011	ГУ МГНЦ РАМН	Генетика - 03.02.07	к.м.н.	Дадали Е.Л. - д.м.н., профессор, Поляков А.В. - д.б.н., профессор
36	Милованова Н.В. Молекулярно-генетическая природа первичных гемофагоцитарныхлимфогистиоцитозов в России	ГУ МГНЦ РАМН	2011	ГУ МГНЦ РАМН	Генетика - 03.02.07 Гематология и переливание крови - 14.01.21	к.м.н.	Поляков А.В. - д.б.н., профессор, Масчан М.А. - к.м.н.
37	Забненкова В.В. «Значение определения числа копий генов локуса 5q13 в диагностике проксимальных спинальных мышечных атрофий I-IV типа»	ФГБУ «МГНЦ» РАМН	2012	ФГБУ «МГНЦ» РАМН/ Д 001.016.01	Генетика - 03.02.07	к.м.н.	Поляков Александр Владимирович – д.б.н, профессор Дадали Елена Леонидовна – д.м.н., профессор
38	Галеева Н.М. «Молекулярно-генетическая природа наследственной метгемоглобинемии»	ФГБУ «МГНЦ» РАМН	2012	ФГБУ «МГНЦ» РАМН/ Д 001.016.01	Генетика - 03.02.07	к.м.н.	Поляков Александр Владимирович – д.б.н, профессор
39	Зиновьева А.И. «Роль генетических факторов в развитии агрессивного пародонтита»	ГБОУ ВПО МГМСУ	2012	ГБОУ ВПО МГМСУ/ Д208.041.07	14.01.14- стоматология 03.02.07-генетика	к.м.н.	Атрушкевич Виктория Геннадьевна – д.м.н., профессор Поляков Александр Владимирович д.б.н., профессор
40	Дмитриева А.В. «Наследственные ангионевротические отеки: генетические аспекты, дифференциальная диагностика»	ГНЦ Институт иммунологии» ФМБА	2012	«ГНЦ Институт иммунологии» ФМБА/ Д 208.017.01	4.03.09 – клиническая иммунология, аллергология 03.02.07 – генетика	к.м.н.	Латышева Татьяна Васильевна – д.м.н., профессор Поляков Александр Владимирович – д.б.н., профессор
41	Приходина Л.С. «Клинические и генетические закономерности прогрессирования стероид-резистентного нефротического синдрома у детей и эффективность иммуносупрессивной терапии.»		2012	Московский научно-исследовательский институт педиатрии и детской хирургии/ Д 208.043.0	14.01.08- педиатрия, 03.02.07 – генетика	д.м.н.	Длин Владимир Викторович – д.м.н., профессор Поляков Александр Владимирович – д.б.н., профессор
42	Иванова Е.А. «Молекулярно-генетический анализ недистрофических миотоний в РФ»	ФГБУ «МГНЦ» РАМН	2013	ФГБУ «МГНЦ» РАМН/ Д 001.016.01	Генетика - 03.02.07	к.м.н.	Поляков Александр Владимирович – д.б.н, профессор
43	Ханакова Н.А. «Клинический, молекулярно-генетический и цитологический анализ наследственных оптических нейропатий»	ФГБУ «НИИ Глазных Болезней» РАМН	2014	ФГБУ «НИИ Глазных Болезней» РАМН/ Д 001.040.01	14.01.07 – глазные болезни	к.м.н.	Шеремет Наталия Леонидовна – к.м.н. Поляков Александр Владимирович – д.б.н, профессор
44	Адян Т.А. «Клинико-генетическое разнообразие и молекулярная диагностика мышечной дистрофии Эмери – Дрейфуса»	ФГБНУ МГНЦ	2015	ФГБНУ МГНЦ	03.02.07 - Генетика 14.01.11 – Нервные болезни	к.м.н.	Поляков Александр Владимирович – д.б.н, профессор Руденская Галина Евгеньевна - д.м.н.

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