Matches in SemOpenAlex for { <https://semopenalex.org/work/W1946832611> ?p ?o ?g. }
Showing items 1 to 54 of
54
with 100 items per page.
- W1946832611 abstract "Genetic disorders occur with high frequency in children with autism spectrum disorders (ADS). ADSs involve disturbances in three areas: violations in the sphere of social interaction, qualitative impairments in communication field, is extremely limited, repetitive and stereotyped patterns of behavior, interests and occupations. Genetic testing allows us to identify possible etiologic factors and pathogenetic mechanisms of the disease in order to elaborate methods of correction of mental and behavioral disorders. Molecular karyotyping using DNA microarrays is one of modern technologies for diagnosis of genomic and chromosomal abnormalities in children with autism. In the practice of clinical psychology and medical genetics, we use high resolution comparative genomic hybridization (HRCGH) and molecular karyotyping (array CGH). In a study of 100 children with autism, learning difficulties and congenital malformations by HRCGH we identified genomic rearrangements in 46% of cases. Using array CGH we examined 50 children with autism. In 44 cases out of 50 (88%) were identified different genomic abnormalities and genomic variations (CNV copy number variations). In 23 cases out of 44 (52%) were found unbalanced genomic rearrangements, including deletions and duplications. These data suggest that genomic abnormalities which are not detectable by common methods of chromosome analysis are often discovered by molecular cytogenetics. To our knowledge, this study of genomic microaberrations in children with idiopathic autism of unknown etiology is the first one in Russia. Studies of genomic and chromosomal abnormalities in children with ADS and learning difficulties are necessary for differential diagnosis and neurobiological evidence-based medical and psychological correction." @default.
- W1946832611 created "2016-06-24" @default.
- W1946832611 creator A5016159245 @default.
- W1946832611 creator A5037237998 @default.
- W1946832611 creator A5063648786 @default.
- W1946832611 creator A5086121932 @default.
- W1946832611 date "2012-01-01" @default.
- W1946832611 modified "2023-09-24" @default.
- W1946832611 title "Генетические аспекты психологических и поведенческих нарушений у детей с аутистическими расстройствами и трудностями в обучении: диагностика геномных и хромосомных нарушений с использованием ДНК-микрочипов" @default.
- W1946832611 hasPublicationYear "2012" @default.
- W1946832611 type Work @default.
- W1946832611 sameAs 1946832611 @default.
- W1946832611 citedByCount "0" @default.
- W1946832611 crossrefType "journal-article" @default.
- W1946832611 hasAuthorship W1946832611A5016159245 @default.
- W1946832611 hasAuthorship W1946832611A5037237998 @default.
- W1946832611 hasAuthorship W1946832611A5063648786 @default.
- W1946832611 hasAuthorship W1946832611A5086121932 @default.
- W1946832611 hasConcept C104317684 @default.
- W1946832611 hasConcept C120821319 @default.
- W1946832611 hasConcept C124942203 @default.
- W1946832611 hasConcept C138496976 @default.
- W1946832611 hasConcept C141231307 @default.
- W1946832611 hasConcept C15744967 @default.
- W1946832611 hasConcept C193820426 @default.
- W1946832611 hasConcept C205778803 @default.
- W1946832611 hasConcept C30481170 @default.
- W1946832611 hasConcept C53226629 @default.
- W1946832611 hasConcept C54355233 @default.
- W1946832611 hasConcept C64474127 @default.
- W1946832611 hasConcept C80227256 @default.
- W1946832611 hasConcept C86803240 @default.
- W1946832611 hasConceptScore W1946832611C104317684 @default.
- W1946832611 hasConceptScore W1946832611C120821319 @default.
- W1946832611 hasConceptScore W1946832611C124942203 @default.
- W1946832611 hasConceptScore W1946832611C138496976 @default.
- W1946832611 hasConceptScore W1946832611C141231307 @default.
- W1946832611 hasConceptScore W1946832611C15744967 @default.
- W1946832611 hasConceptScore W1946832611C193820426 @default.
- W1946832611 hasConceptScore W1946832611C205778803 @default.
- W1946832611 hasConceptScore W1946832611C30481170 @default.
- W1946832611 hasConceptScore W1946832611C53226629 @default.
- W1946832611 hasConceptScore W1946832611C54355233 @default.
- W1946832611 hasConceptScore W1946832611C64474127 @default.
- W1946832611 hasConceptScore W1946832611C80227256 @default.
- W1946832611 hasConceptScore W1946832611C86803240 @default.
- W1946832611 hasIssue "3" @default.
- W1946832611 hasLocation W19468326111 @default.
- W1946832611 hasOpenAccess W1946832611 @default.
- W1946832611 hasPrimaryLocation W19468326111 @default.
- W1946832611 isParatext "false" @default.
- W1946832611 isRetracted "false" @default.
- W1946832611 magId "1946832611" @default.
- W1946832611 workType "article" @default.