A5035805556- Nutrition, Genetics, and Disease
- Human Health and Disease
- Connexins and lens biology
- Retinal Development and Disorders
- Intraocular Surgery and Lenses
- Medical and Biological Sciences
- Retinal and Optic Conditions
- BRCA gene mutations in cancer
- Healthcare Systems and Public Health
- Heme Oxygenase-1 and Carbon Monoxide
- Biomarkers in Disease Mechanisms
- Corneal Surgery and Treatments
- Retinal Imaging and Analysis
- Ophthalmology and Visual Impairment Studies
- Pediatric health and respiratory diseases
- RNA and protein synthesis mechanisms
- Glutathione Transferases and Polymorphisms
- Developmental Biology and Gene Regulation
- Genetic and rare skin diseases.
- Ocular Disorders and Treatments
- Genomics and Rare Diseases
- Cerebrovascular and genetic disorders
- Ureteral procedures and complications
- Biochemical effects in animals
- Yersinia bacterium, plague, ectoparasites research
Research Centre for Medical Genetics
2013-2019
Research Institute of Medical Genetics of Russian Academy of Medical Sciences
2009-2015
Russian Academy of Sciences
2001-2009
Academy of Medical Sciences
2009
Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants in the PAX6 gene. The objective of study was to investigate mutational and clinical spectra cohort 117 patients from Russia. Each patient underwent detailed ophthalmological examination. From 91 unrelated families, 110 were diagnosed 7 WAGR syndrome (Wilms tumor, Aniridia, Genitourinary anomalies, mental Retardation syndrome). presentation varied complete bilateral...
Congenital aniridia (AN) is a hereditary autosomal dominant developmental disorder of the eye. Heterozygous mutations in PAX6 gene and chromosomal rearrangements involving 11p13 locus lie behind pathogenesis AN. The key role regulation embryogenesis pleiotropic effect this transcription factor explain damage several tissues anterior posterior segments eye, brain structures, disturbance morphogenesis endocrine function pancreas observed Recently AN has been considered syndromic pathology by...
Aim. The objective of the present study was to elucidate specific features clinical picture congenital aniridia in children and adolescents determine frequency complications this pathology Russian Federation. Materials methods. involved 37 at age below 18 years (74 eyes) who were recruited from unrelated families diagnosed as having Cheboksarsky branch S.N. Fedorov Federal State Institute Eye Microsurgery. All underwent comprehensive ophthalmological examination based institution that...
The load and diversity of monogenic hereditary diseases (HD) among the Russians Karachaevo-Cherkess Republic (KCR), living in 10 rural districts two cities, have been studied. total size investigated population was 410,367 people, including Russians — 134,756. In total, 385 Russian KCR patients from 281 families were registered. Load AD, AR X-linked districts (3.01 ± 0.32, 1.98 0.26 1.23 0.29) are more than twice higher cities (1.00 0.10, 0.89 0.09 0.42 0.09). HD 99 nosological forms:...
The article presents the clinical and genetic characteristics of a patient with Knobloch syndrome caused by previously indescried combination mutations in compound heterozygous state c.4054_4055delCT / c.1469-2A>G gene COL18A1. peculiarity presented case is absence symptoms central nervous system damage, found most patients this syndrome.
Diversity of monogenic hereditary diseases (MHD) in the population eight districts Republic Tatarstan (RT) is reviewed. The number investigation was 264,310 people. analysis performed for entire region, and separately representatives titular nation — Tatars. Tatar (209,265 people) represented by three basic ethnographic groups Kazan Tatars (Arsky, Athninsky, Kukmorsky districts) Mishars (Buinsky, Drozhzhanovsky) Teptyars (Aktanysh, Muslumovsky Menzelinsky). Nosological spectrum MHD 256...
Purpose. Retrospective genetic counseling analysis of patients with hereditary retinal diseases. Material and methods. The study is based on an analysis of molecular studies of DNA samples 82 patients: Stargardt disease (n=37), Fundus Flavimaculatus (n=34), Best vitelliform macular dystrophy (n=11). All patients had a comprehensive ophthalmologic clinical functional examination. Geneticist physician conducted genealogical analysis. Search for mutations at each clinical form the was carried...
Purpose. To evaluate the results in genetic consulting of patients with various forms congenital and hereditary eyes pathology. Material methods. The study is based on an analysis molecular investigations DNA samples 18 patients: corneal dystrophy (n=3); cataract (n=11); Norrie disease (n = 4). All had a comprehensive ophthalmologic clinical functional examination according to Geneticist physician conducted genealogical analysis. A of exons flanking intronic regions was performed using...