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Genotypes of 2579 patients with phenylketonuria reveal a high rate of BH4 non-responders in Russia
Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of phenylketonuria (PKU). Furthermore, numerous studies on BH4-sensitive PAH deficiency have been conducted. To date, BH4, aExpand
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[Molecular genetic diagnosis of Stargardt disease].
AIM To comparatively evaluate the efficacy of genetic screening in patients with Stargardt disease (SD) by using an express panel of 5 most common ABCA4 mutations and performing massive parallelExpand
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[The analysis of the association of the polymorphic variants of the TPMT, COMT, and ABCC3 genes with the development of hearing disorders induced by the cisplatin treatment].
Cisplatin and its derivatives are widely used chemotherapeutic agents for the treatment of many cancers, including hepatoblastoma, brain tumors, and germ-cell tumors. This therapy contributed to theExpand
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[Epidemiology of hearing loss in children of the first year of life].
The aim of this study was the investigation of the epidemiology of permanent hearing impairment in the children of first year of life in the Russian Federation after the implementation of the newbornExpand
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[Twenty years of clinical studies of GJB2-linked hearing loss in Russia].
The most common cause of congenital hereditary hearing loss was discovered 20 years ago in 1997 when GJB2 gene was revealed in the first locus of recessive hearing loss DFNB1. It encodes proteinExpand
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Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus
Phenylketonuria is an inherited disease caused by mutations in the phenylalanine hydroxylase gene PAH. Different PAH pathogenic variants occur in different ethnic groups with various frequencies andExpand
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New intronic splicing mutation in the LMNA gene causing progressive cardiac conduction defects and variable myopathy.
BACKGROUND Most of mutations in the LMNA gene are unique and have been found in only a few unrelated families. The clinical interpretation of new genetic variants, especially beyond the coding areaExpand
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[Hearing loss due to mutations or lack of the gene coding protein stereocillin].
OBJECTIVE The description of a clinical picture and audiological features at the hearing loss caused by changes of a STRC gene, coding protein stereocillin (MIM: 606440). Mutations in the numerousExpand
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Spectrum of CFTR mutations in Chechen cystic fibrosis patients: high frequency of c.1545_1546delTA (p.Tyr515X; 1677delTA) and c.274G>A (p.Glu92Lys, E92K) mutations in North Caucasus
BackgroundCystic fibrosis (CF; OMIM #219700) is a common autosomal recessive disease caused by pathogenic variants (henceforward mutations) in the cystic fibrosis transmembrane conductance regulatorExpand
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A new case of infantile‐onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family
SPG61 (OMIM: 615685) is an extremely rare form of complicated hereditary spastic paraplegia [1,2]. To date, only one family with SPG61 has been reported [3]. Here, we describe the second SPG61 caseExpand
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