Research Centre for Medical Genetics
1 Moskvorechye St,
Moscow 115522, Russian Federation
Reception
+7 (495) 111-03-03
Mo-Fr: 9:00 - 17:00
Рус

Head of the Laboratory

Polyakov Aleksander Vladimirovich
Тел:
+7 (499) 612-98-46
Email:
polyakov@med-gen.ru
More

Research team

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

  1. 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.
  2. 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
  3. 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
  4. 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.
  5. 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.
  6. 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.
  7. 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
  8. 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
  9. 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.
  10. 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.
  11. 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.
  12. 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.
  13. 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.
  14. 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.
  15. 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.
  16. 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.
  17. 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.
  18. 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.
  19. 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.
  20. 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.
  21. 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.
  22. 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.
  23. 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.
  24. 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.
  25. 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.
  26. 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.
  27. 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.
  28. 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.
  29. 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.
  30. 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.
  31. 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)
  32. 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.
  33. 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.
  34. 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.
  35. Kondratenko I, Paschenko O, Polyakov A, Bologov A. "Nijmegen breakage syndrome." Adv Exp Med Biol. 2007;601:61-7. Review.
  36. 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
  37. 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.
  38. 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.
  39. 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
  40. 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.
  41. 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.
  42. 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.
  43. 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
  44. 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
  45. 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
  46. 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
  47. 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
  48. 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
  49. 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
  50. 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
  51. 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
  52. 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
  53. 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
  54. 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
  55. 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
  56. 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
  57. 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
  58. 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
  59. 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
  60. 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.
  61. 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
  62. 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.