檢索結果 - Alexander A. Pushkov

Guidelines are given on terminology, nomenclature and determination of the clinical significance of various variants of the genome nucleotide sequence. Information on the use of specialised databases and literary sources when describing and interpreting molecular genetic research data is provided.

Background. Non-compaction cardiomyopathy is a group of genetically heterogeneous, poorly studied myocardial diseases with a variety of clinical manifestations (from asymptomatic course to progressive systolic dysfunction with symptoms of chronic heart failure, arrhythmias, and thromboembolic compli...

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Osteogenesis imperfect (OI) is a rare genetic disease of connective tissue, the main manifestation are fractures that are developing due to increased bone fragility in both children and adults. Currently, it is known that the genetic basis of the disease in 90% of cases are violations in the genes C...

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Background. Cryopyrin-associated periodic syndromes is a group of rare congenital autoinflammatory diseases such as familial cold autoinflammatory syndrome, Muckle-Wells syndrome and chronic infantile neurological cutaneous articular syndrome. These syndromes are considered as clinical variants of o...

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Background. Nowadays, dermatoses with mixed clinical picture and resistant to classical management become more common. The presence of various genetic disorders typical for most chronic dermatoses may indicate possible combination of several nosologies.Clinical Case Description. The article presents...

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Methylmalonic acidemia (aciduria) is an inherited metabolic disturbance from the group of organic acidemias (acidurias). The article presents etiopathogenetic, epidemiological, diagnostic, and therapeutic aspects of the problem. The possibilities of laboratory and instrumental diagnostic methods the...

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