A5023806644- Genomics and Rare Diseases
- Sexual Differentiation and Disorders
- Connective tissue disorders research
- Hormonal and reproductive studies
- Genetic Neurodegenerative Diseases
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Genomic variations and chromosomal abnormalities
- Congenital Heart Disease Studies
- Dermatological and Skeletal Disorders
- Mitochondrial Function and Pathology
- Sperm and Testicular Function
- Spectroscopy Techniques in Biomedical and Chemical Research
- Congenital Diaphragmatic Hernia Studies
- Metabolism and Genetic Disorders
- Cancer-related gene regulation
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Epilepsy research and treatment
- Chromosomal and Genetic Variations
- Tracheal and airway disorders
- Lysosomal Storage Disorders Research
- Peptidase Inhibition and Analysis
- Microfluidic and Capillary Electrophoresis Applications
- Microfluidic and Bio-sensing Technologies
- Autoimmune Bullous Skin Diseases
Ministry of Health of the Russian Federation
2025
Pirogov Russian National Research Medical University
2021-2025
Research Centre for Medical Genetics
2017-2024
With the development of next-generation sequencing (NGS) technologies it became possible to simultaneously analyze millions variants. Despite quality improvement, is generally still required confirm variants before reporting. However, in recent years dominant idea that one could define thresholds for "high quality" which do not require orthogonal validation. that, no works date report concordance between from whole genome and their gold-standard Sanger In this study we analyzed 1756 WGS...
Recently, others and we identified de novo FBXO11 (F-Box only protein 11) variants as causative for a variable neurodevelopmental disorder (NDD). We now assembled clinical mutational information on 23 additional individuals. The phenotypic spectrum remains highly variable, with developmental delay and/or intellectual disability the core feature behavioral anomalies, hypotonia various facial dysmorphism frequent aspects. includes intragenic deletions, likely gene disrupting missense...
The Ehlers-Danlos syndrome is a rare (orphan) disease characterized by the connective tissue dysplasia, fragility of blood vessels and tissues, variable clinical pattern. vascular type syndrome, which belongs to Group A according classification 2017, caused mutations in gene alpha-1 chain III collagen COL3A1. high mortality rate patients due spontaneous ruptures walls hollow viscera. International Consortium (2017) developed criteria for diagnosis Ehlers – Danlos syndrome. case 16-year-old...
Abstract With the development of Next-Generation Sequencing (NGS) technologies it became possible to simultaneously analyze millions variants. Despite quality improvement is generally still required confirm variants before reporting. However, in recent years dominant idea that one could define thresholds for “high quality” which do not require orthogonal validation. that, no works date report concordance between from whole genome sequencing and their gold-standard Sanger In this study we...
Klinefelter syndrome is one of the most common chromosomal abnormalities and genetic cause male infertility. About 85 % patients have 47,XXY karyotype, other non-mosaic mosaic variants. We report a unique clinical case — patient with double Y autosomal translocation. The proband 15-year-old (height 180 cm, weight 50 kg, normal IQ) who was admitted for cytogenetic examination counseling due to delayed puberty. He diagnosed testicular hypoplasia, hypergonadotropic hypogonadism, pituitary...
Genetic factors are a common cause of severe pathozoospermia and male infertility. An increase in the length trinucleotide repeats causes number progressive neurodegenerative diseases, including spinal bulbar muscular atrophy — Kennedy syndrome. This neuromuscular disease is caused by CAG expansion androgen receptor gene (AR) characterized endocrine disorders, testicular atrophy, hypogonadism, gynecomastia, infertility due to azoospermia or oligozoospermia. Variation AR may be associated...
Clinical observations of patients with arthrochalasia and classical-like types Ehlers-Danlos syndrome (EDS) caused by mutations in the COL1A2 TNXB genes, respectively, are presented article. These genes involved organization correct structure function collagen. The presence common links pathogenesis, apparently, determines formation clinical signs identified (hypermobility syndrome, increased skin extensibility, impaired posture, deformity lower extremities, flat feet, mitral valve prolapse)...
Heterotaxy syndrome is a congenital malformation in which the internal organs of chest and abdominal cavity have an abnormal location. People suffering from this multiple complex defects heart, blood vessels, spleen, liver, lungs other organs. rare pathology that requires multidisciplinary approach to diagnosis. This article demonstrates case heterotaxy observed pulmonology clinic Veltischev Institute.
Aim . To improve the efficiency of diagnosis hereditary lysosomal storage diseases using an intelligent computerbased decision support system. Materials and methods Descriptions 35 clinical cases from literature depersonalized data 52 patients electronic health records were used as material for testing computer diagnostic Knowledge engineering techniques have been to extract, structure, formalize knowledge texts experts. Literary sources included online databases publications (in Russian...
A description of a patient with rare form Camurati-Engelmann Disease (CED), also known as progressive diaphyseal dysplasia, manifested by gait disturbance, pain in the limbs and muscle weakness is presented. It only ca. 300+ patients this disease have been described worldwide to date. was discovered various ethnic groups regardless gender. clinical case observation molecular genetic confirmation diagnosis presented for first time Russian language scientific periodical. Establishing an...
The Classic Ehlers–Danlos syndrome (cEDS) is an autosomal dominant hereditary disease caused by type V collagen defect. incidence of pathology estimated at 1:20,000 the population. results a long-term (15 years) follow-up group patients (n=18) with cEDS, including 5 boys and 13 girls aged from 3 to 18 years, are presented. diagnosis was made based on presence 2 large small international diagnostic criteria in all patients. progreduated character shown, which most obvious dynamics state...
Introduction . The effect of polymorphic variants the androgen receptor gene (AR) on spermatogenesis and semen parameters in men with different genotypes for other loci has not been sufficiently studied. aim this work was to study (CAG)n polymorphism AR impaired fertility, without partial deletions AZFс region from Y chromosome. Materials methods included 988 unrelated Russian patients pathozoospermia, including 591 chromosome microdeletions 397 AZFc control group consisted 131...