{"id":"https://openalex.org/W4396535993","doi":"https://doi.org/10.15574/pp.2024.97.122","title":"Polymorphism of clinical manifestations of orphan diseases in children with ARID1A and ARID1B gene mutations","display_name":"Polymorphism of clinical manifestations of orphan diseases in children with ARID1A and ARID1B gene mutations","publication_year":2024,"publication_date":"2024-03-28","ids":{"openalex":"https://openalex.org/W4396535993","doi":"https://doi.org/10.15574/pp.2024.97.122"},"language":"en","primary_location":{"id":"doi:10.15574/pp.2024.97.122","doi":"https://doi.org/10.15574/pp.2024.97.122","is_oa":true,"landing_page_url":"http://dx.doi.org/10.15574/pp.2024.97.122","pdf_url":null,"source":{"id":"https://openalex.org/S4210205954","display_name":"Ukrainian journal of Perinatology and Pediatrics","issn_l":"2706-8757","issn":["2706-8757","2707-1375"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj"],"host_organization":"https://openalex.org/P4310321146","host_organization_name":"Group of Companies Med Expert, LLC","host_organization_lineage":["https://openalex.org/P4310321146"],"host_organization_lineage_names":["Group of Companies Med Expert, LLC"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"UKRAINIAN JOURNAL OF PERINATOLOGY AND PEDIATRICS","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"http://dx.doi.org/10.15574/pp.2024.97.122","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5113840689","display_name":"Vitaliy Tsymbalyuk","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210144782","display_name":"National Academy of Medical Sciences of Ukraine","ror":"https://ror.org/042dnf796","country_code":"UA","type":"government","lineage":["https://openalex.org/I4210144782"]}],"countries":["UA"],"is_corresponding":false,"raw_author_name":"V.I. Tsymbalyuk","raw_affiliation_strings":["\u041d\u0430\u0446\u0456\u043e\u043d\u0430\u043b\u044c\u043d\u0430 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u044f \u043c\u0435\u0434\u0438\u0447\u043d\u0438\u0445 \u043d\u0430\u0443\u043a \u0423\u043a\u0440\u0430\u0457\u043d\u0438, \u043c. \u041a\u0438\u0457\u0432"],"raw_orcid":"https://orcid.org/0000-0001-7544-6603","affiliations":[{"raw_affiliation_string":"\u041d\u0430\u0446\u0456\u043e\u043d\u0430\u043b\u044c\u043d\u0430 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u044f \u043c\u0435\u0434\u0438\u0447\u043d\u0438\u0445 \u043d\u0430\u0443\u043a \u0423\u043a\u0440\u0430\u0457\u043d\u0438, \u043c. \u041a\u0438\u0457\u0432","institution_ids":["https://openalex.org/I4210144782"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112569966","display_name":"Yu. G. Antipkin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210093343","display_name":"Institute of Pediatrics, Obstetrics, and Gynecology named after acad. O.M. Lukyanova of the National Academy of Medical Sciences of Ukraine","ror":"https://ror.org/00gtb4z22","country_code":"UA","type":"facility","lineage":["https://openalex.org/I4210093343","https://openalex.org/I4210144782","https://openalex.org/I4405277512"]}],"countries":["UA"],"is_corresponding":false,"raw_author_name":"Yu.G. Antipkin","raw_affiliation_strings":["\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043f\u0435\u0434\u0456\u0430\u0442\u0440\u0456\u0457, \u0430\u043a\u0443\u0448\u0435\u0440\u0441\u0442\u0432\u0430 \u0456 \u0433\u0456\u043d\u0435\u043a\u043e\u043b\u043e\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u041e.\u041c. \u041b\u0443\u043a\u2019\u044f\u043d\u043e\u0432\u043e\u0457 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432"],"raw_orcid":"https://orcid.org/0000-0002-8018-4393","affiliations":[{"raw_affiliation_string":"\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043f\u0435\u0434\u0456\u0430\u0442\u0440\u0456\u0457, \u0430\u043a\u0443\u0448\u0435\u0440\u0441\u0442\u0432\u0430 \u0456 \u0433\u0456\u043d\u0435\u043a\u043e\u043b\u043e\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u041e.\u041c. \u041b\u0443\u043a\u2019\u044f\u043d\u043e\u0432\u043e\u0457 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432","institution_ids":["https://openalex.org/I4210093343"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5114058346","display_name":"L.G. Kyrylova","orcid":"https://orcid.org/0000-0002-9879-1132","observed_orcids":["https://orcid.org/0000-0002-9879-1132"]},"institutions":[{"id":"https://openalex.org/I4210093343","display_name":"Institute of Pediatrics, Obstetrics, and Gynecology named after acad. O.M. Lukyanova of the National Academy of Medical Sciences of Ukraine","ror":"https://ror.org/00gtb4z22","country_code":"UA","type":"facility","lineage":["https://openalex.org/I4210093343","https://openalex.org/I4210144782","https://openalex.org/I4405277512"]}],"countries":["UA"],"is_corresponding":false,"raw_author_name":"L.G. Kyrylova","raw_affiliation_strings":["\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043f\u0435\u0434\u0456\u0430\u0442\u0440\u0456\u0457, \u0430\u043a\u0443\u0448\u0435\u0440\u0441\u0442\u0432\u0430 \u0456 \u0433\u0456\u043d\u0435\u043a\u043e\u043b\u043e\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u041e.\u041c. \u041b\u0443\u043a\u2019\u044f\u043d\u043e\u0432\u043e\u0457 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432"],"raw_orcid":"https://orcid.org/0000-0002-9879-1132","affiliations":[{"raw_affiliation_string":"\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043f\u0435\u0434\u0456\u0430\u0442\u0440\u0456\u0457, \u0430\u043a\u0443\u0448\u0435\u0440\u0441\u0442\u0432\u0430 \u0456 \u0433\u0456\u043d\u0435\u043a\u043e\u043b\u043e\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u041e.\u041c. \u041b\u0443\u043a\u2019\u044f\u043d\u043e\u0432\u043e\u0457 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432","institution_ids":["https://openalex.org/I4210093343"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003929286","display_name":"\u041e.\u041e. Miroshnikov","orcid":"https://orcid.org/0000-0002-7614-6335","observed_orcids":["https://orcid.org/0000-0002-7614-6335"]},"institutions":[{"id":"https://openalex.org/I4210093343","display_name":"Institute of Pediatrics, Obstetrics, and Gynecology named after acad. O.M. Lukyanova of the National Academy of Medical Sciences of Ukraine","ror":"https://ror.org/00gtb4z22","country_code":"UA","type":"facility","lineage":["https://openalex.org/I4210093343","https://openalex.org/I4210144782","https://openalex.org/I4405277512"]}],"countries":["UA"],"is_corresponding":false,"raw_author_name":"O.O. Miroshnikov","raw_affiliation_strings":["\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043f\u0435\u0434\u0456\u0430\u0442\u0440\u0456\u0457, \u0430\u043a\u0443\u0448\u0435\u0440\u0441\u0442\u0432\u0430 \u0456 \u0433\u0456\u043d\u0435\u043a\u043e\u043b\u043e\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u041e.\u041c. \u041b\u0443\u043a\u2019\u044f\u043d\u043e\u0432\u043e\u0457 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432"],"raw_orcid":"https://orcid.org/0000-0002-7614-6335","affiliations":[{"raw_affiliation_string":"\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043f\u0435\u0434\u0456\u0430\u0442\u0440\u0456\u0457, \u0430\u043a\u0443\u0448\u0435\u0440\u0441\u0442\u0432\u0430 \u0456 \u0433\u0456\u043d\u0435\u043a\u043e\u043b\u043e\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u041e.\u041c. \u041b\u0443\u043a\u2019\u044f\u043d\u043e\u0432\u043e\u0457 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432","institution_ids":["https://openalex.org/I4210093343"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065848623","display_name":"Maria M. Prokopiv","orcid":"https://orcid.org/0000-0001-5467-3946","observed_orcids":["https://orcid.org/0000-0001-5467-3946"]},"institutions":[{"id":"https://openalex.org/I84407627","display_name":"Bogomolets National Medical University","ror":"https://ror.org/03edafd86","country_code":"UA","type":"education","lineage":["https://openalex.org/I84407627"]}],"countries":["UA"],"is_corresponding":false,"raw_author_name":"M.M. Prokopiv","raw_affiliation_strings":["\u041d\u0430\u0446\u0456\u043e\u043d\u0430\u043b\u044c\u043d\u0438\u0439 \u043c\u0435\u0434\u0438\u0447\u043d\u0438\u0439 \u0443\u043d\u0456\u0432\u0435\u0440\u0441\u0438\u0442\u0435\u0442 \u0456\u043c\u0435\u043d\u0456 \u041e.\u041e. \u0411\u043e\u0433\u043e\u043c\u043e\u043b\u044c\u0446\u044f, \u043c. \u041a\u0438\u0457\u0432"],"raw_orcid":"https://orcid.org/0000-0001-5467-3946","affiliations":[{"raw_affiliation_string":"\u041d\u0430\u0446\u0456\u043e\u043d\u0430\u043b\u044c\u043d\u0438\u0439 \u043c\u0435\u0434\u0438\u0447\u043d\u0438\u0439 \u0443\u043d\u0456\u0432\u0435\u0440\u0441\u0438\u0442\u0435\u0442 \u0456\u043c\u0435\u043d\u0456 \u041e.\u041e. \u0411\u043e\u0433\u043e\u043c\u043e\u043b\u044c\u0446\u044f, \u043c. \u041a\u0438\u0457\u0432","institution_ids":["https://openalex.org/I84407627"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5053013251","display_name":"\u0422.\u0406. \u0406\u043b\u043b\u044f\u0448","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I84407627","display_name":"Bogomolets National Medical University","ror":"https://ror.org/03edafd86","country_code":"UA","type":"education","lineage":["https://openalex.org/I84407627"]}],"countries":["UA"],"is_corresponding":false,"raw_author_name":"T.I. Ilyash","raw_affiliation_strings":["\u041d\u0430\u0446\u0456\u043e\u043d\u0430\u043b\u044c\u043d\u0438\u0439 \u043c\u0435\u0434\u0438\u0447\u043d\u0438\u0439 \u0443\u043d\u0456\u0432\u0435\u0440\u0441\u0438\u0442\u0435\u0442 \u0456\u043c\u0435\u043d\u0456 \u041e.\u041e. \u0411\u043e\u0433\u043e\u043c\u043e\u043b\u044c\u0446\u044f, \u043c. \u041a\u0438\u0457\u0432"],"raw_orcid":"https://orcid.org/0000-0003-0902-4597","affiliations":[{"raw_affiliation_string":"\u041d\u0430\u0446\u0456\u043e\u043d\u0430\u043b\u044c\u043d\u0438\u0439 \u043c\u0435\u0434\u0438\u0447\u043d\u0438\u0439 \u0443\u043d\u0456\u0432\u0435\u0440\u0441\u0438\u0442\u0435\u0442 \u0456\u043c\u0435\u043d\u0456 \u041e.\u041e. \u0411\u043e\u0433\u043e\u043c\u043e\u043b\u044c\u0446\u044f, \u043c. \u041a\u0438\u0457\u0432","institution_ids":["https://openalex.org/I84407627"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110997150","display_name":"\u041e.\u041e. Yuzva","orcid":"https://orcid.org/0000-0002-0918-4788","observed_orcids":["https://orcid.org/0000-0002-0918-4788"]},"institutions":[{"id":"https://openalex.org/I4210093343","display_name":"Institute of Pediatrics, Obstetrics, and Gynecology named after acad. O.M. Lukyanova of the National Academy of Medical Sciences of Ukraine","ror":"https://ror.org/00gtb4z22","country_code":"UA","type":"facility","lineage":["https://openalex.org/I4210093343","https://openalex.org/I4210144782","https://openalex.org/I4405277512"]}],"countries":["UA"],"is_corresponding":false,"raw_author_name":"O.O. Yuzva","raw_affiliation_strings":["\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043f\u0435\u0434\u0456\u0430\u0442\u0440\u0456\u0457, \u0430\u043a\u0443\u0448\u0435\u0440\u0441\u0442\u0432\u0430 \u0456 \u0433\u0456\u043d\u0435\u043a\u043e\u043b\u043e\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u041e.\u041c. \u041b\u0443\u043a\u2019\u044f\u043d\u043e\u0432\u043e\u0457 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432"],"raw_orcid":"https://orcid.org/0000-0002-0918-4788","affiliations":[{"raw_affiliation_string":"\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043f\u0435\u0434\u0456\u0430\u0442\u0440\u0456\u0457, \u0430\u043a\u0443\u0448\u0435\u0440\u0441\u0442\u0432\u0430 \u0456 \u0433\u0456\u043d\u0435\u043a\u043e\u043b\u043e\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u041e.\u041c. \u041b\u0443\u043a\u2019\u044f\u043d\u043e\u0432\u043e\u0457 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432","institution_ids":["https://openalex.org/I4210093343"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060888558","display_name":"O.V. Beregela","orcid":"https://orcid.org/0000-0002-3040-698X","observed_orcids":["https://orcid.org/0000-0002-3040-698X"]},"institutions":[{"id":"https://openalex.org/I4210093343","display_name":"Institute of Pediatrics, Obstetrics, and Gynecology named after acad. O.M. Lukyanova of the National Academy of Medical Sciences of Ukraine","ror":"https://ror.org/00gtb4z22","country_code":"UA","type":"facility","lineage":["https://openalex.org/I4210093343","https://openalex.org/I4210144782","https://openalex.org/I4405277512"]}],"countries":["UA"],"is_corresponding":false,"raw_author_name":"O.V. Berehela","raw_affiliation_strings":["\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043f\u0435\u0434\u0456\u0430\u0442\u0440\u0456\u0457, \u0430\u043a\u0443\u0448\u0435\u0440\u0441\u0442\u0432\u0430 \u0456 \u0433\u0456\u043d\u0435\u043a\u043e\u043b\u043e\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u041e.\u041c. \u041b\u0443\u043a\u2019\u044f\u043d\u043e\u0432\u043e\u0457 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432"],"raw_orcid":"https://orcid.org/0000-0002-3040-698X","affiliations":[{"raw_affiliation_string":"\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043f\u0435\u0434\u0456\u0430\u0442\u0440\u0456\u0457, \u0430\u043a\u0443\u0448\u0435\u0440\u0441\u0442\u0432\u0430 \u0456 \u0433\u0456\u043d\u0435\u043a\u043e\u043b\u043e\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u041e.\u041c. \u041b\u0443\u043a\u2019\u044f\u043d\u043e\u0432\u043e\u0457 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432","institution_ids":["https://openalex.org/I4210093343"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5096565753","display_name":"L. Yu. Silaieva","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210093343","display_name":"Institute of Pediatrics, Obstetrics, and Gynecology named after acad. O.M. Lukyanova of the National Academy of Medical Sciences of Ukraine","ror":"https://ror.org/00gtb4z22","country_code":"UA","type":"facility","lineage":["https://openalex.org/I4210093343","https://openalex.org/I4210144782","https://openalex.org/I4405277512"]}],"countries":["UA"],"is_corresponding":false,"raw_author_name":"L.Yu. Silaeva","raw_affiliation_strings":["\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043f\u0435\u0434\u0456\u0430\u0442\u0440\u0456\u0457, \u0430\u043a\u0443\u0448\u0435\u0440\u0441\u0442\u0432\u0430 \u0456 \u0433\u0456\u043d\u0435\u043a\u043e\u043b\u043e\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u041e.\u041c. \u041b\u0443\u043a\u2019\u044f\u043d\u043e\u0432\u043e\u0457 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043f\u0435\u0434\u0456\u0430\u0442\u0440\u0456\u0457, \u0430\u043a\u0443\u0448\u0435\u0440\u0441\u0442\u0432\u0430 \u0456 \u0433\u0456\u043d\u0435\u043a\u043e\u043b\u043e\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u041e.\u041c. \u041b\u0443\u043a\u2019\u044f\u043d\u043e\u0432\u043e\u0457 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432","institution_ids":["https://openalex.org/I4210093343"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071665856","display_name":"L. M. Verbova","orcid":"https://orcid.org/0000-0002-7688-1604","observed_orcids":["https://orcid.org/0000-0002-7688-1604"]},"institutions":[{"id":"https://openalex.org/I4210116814","display_name":"Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine","ror":"https://ror.org/023w5bf45","country_code":"UA","type":"facility","lineage":["https://openalex.org/I4210116814","https://openalex.org/I4210144782"]}],"countries":["UA"],"is_corresponding":false,"raw_author_name":"L.M. Verbova","raw_affiliation_strings":["\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043d\u0435\u0439\u0440\u043e\u0445\u0456\u0440\u0443\u0440\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u0410.\u041f. \u0420\u043e\u043c\u043e\u0434\u0430\u043d\u043e\u0432\u0430 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432"],"raw_orcid":"https://orcid.org/0000-0002-7688-1604","affiliations":[{"raw_affiliation_string":"\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043d\u0435\u0439\u0440\u043e\u0445\u0456\u0440\u0443\u0440\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u0410.\u041f. \u0420\u043e\u043c\u043e\u0434\u0430\u043d\u043e\u0432\u0430 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432","institution_ids":["https://openalex.org/I4210116814"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5066767613","display_name":"\u0422. \u0410. \u041c\u0430\u043b\u044b\u0448\u0435\u0432\u0430","orcid":"https://orcid.org/0000-0003-4071-8327","observed_orcids":["https://orcid.org/0000-0003-4071-8327"]},"institutions":[{"id":"https://openalex.org/I4210116814","display_name":"Romodanov Neurosurgery Institute of the National Academy of Medical Sciences of Ukraine","ror":"https://ror.org/023w5bf45","country_code":"UA","type":"facility","lineage":["https://openalex.org/I4210116814","https://openalex.org/I4210144782"]}],"countries":["UA"],"is_corresponding":false,"raw_author_name":"T.A. Malysheva","raw_affiliation_strings":["\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043d\u0435\u0439\u0440\u043e\u0445\u0456\u0440\u0443\u0440\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u0410.\u041f. \u0420\u043e\u043c\u043e\u0434\u0430\u043d\u043e\u0432\u0430 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432"],"raw_orcid":"https://orcid.org/0000-0003-4071-8327","affiliations":[{"raw_affiliation_string":"\u0414\u0423 \u00ab\u0406\u043d\u0441\u0442\u0438\u0442\u0443\u0442 \u043d\u0435\u0439\u0440\u043e\u0445\u0456\u0440\u0443\u0440\u0433\u0456\u0457 \u0456\u043c\u0435\u043d\u0456 \u0430\u043a\u0430\u0434\u0435\u043c\u0456\u043a\u0430 \u0410.\u041f. \u0420\u043e\u043c\u043e\u0434\u0430\u043d\u043e\u0432\u0430 \u041d\u0410\u041c\u041d \u0423\u043a\u0440\u0430\u0457\u043d\u0438\u00bb, \u043c. \u041a\u0438\u0457\u0432","institution_ids":["https://openalex.org/I4210116814"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":"1(97)","first_page":"122","last_page":"129"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.37059998512268066,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.37059998512268066,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.28049999475479126,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12820","display_name":"Chromatin Remodeling and Cancer","score":0.19339999556541443,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/arid1a-mutation","display_name":"ARID1A mutation","score":0.9089999794960022},{"id":"https://openalex.org/keywords/coffin-lowry-syndrome","display_name":"Coffin-Lowry syndrome","score":0.8730000257492065},{"id":"https://openalex.org/keywords/subependymal-giant-cell-astrocytoma","display_name":"subependymal giant cell astrocytoma","score":0.9620000123977661},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.7549999952316284},{"id":"https://openalex.org/keywords/autism-spectrum-disorder","display_name":"autism spectrum disorder","score":1.0},{"id":"https://openalex.org/keywords/phacomatosis","display_name":"phacomatosis","score":0.8999999761581421},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8379999995231628},{"id":"https://openalex.org/keywords/pediatric-neuro-oncology","display_name":"pediatric neuro-oncology","score":0.6420000195503235},{"id":"https://openalex.org/keywords/differential-diagnosis","display_name":"differential diagnosis","score":0.5820000171661377},{"id":"https://openalex.org/keywords/whole-exome-sequencing","display_name":"exome sequencing","score":0.6399999856948853}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6904141306877136},{"id":"https://openalex.org/C2781273526","wikidata":"https://www.wikidata.org/wiki/Q18032797","display_name":"ARID1A","level":4,"score":0.6785846948623657},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5510948300361633},{"id":"https://openalex.org/C2994225774","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Gene mutation","level":4,"score":0.4490604102611542},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.438870906829834},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4011270999908447},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3275517225265503},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.3265964686870575},{"id":"https://openalex.org/C60644358","wikidata":"https://www.wikidata.org/wiki/Q128570","display_name":"Bioinformatics","level":1,"score":0.3240478038787842}],"mesh":[],"locations_count":3,"locations":[{"id":"doi:10.15574/pp.2024.97.122","doi":"https://doi.org/10.15574/pp.2024.97.122","is_oa":true,"landing_page_url":"http://dx.doi.org/10.15574/pp.2024.97.122","pdf_url":null,"source":{"id":"https://openalex.org/S4210205954","display_name":"Ukrainian journal of Perinatology and Pediatrics","issn_l":"2706-8757","issn":["2706-8757","2707-1375"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj"],"host_organization":"https://openalex.org/P4310321146","host_organization_name":"Group of Companies Med Expert, LLC","host_organization_lineage":["https://openalex.org/P4310321146"],"host_organization_lineage_names":["Group of Companies Med Expert, LLC"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"UKRAINIAN JOURNAL OF PERINATOLOGY AND PEDIATRICS","raw_type":"journal-article"},{"id":"pmh:oai:ojs.journals.uran.ua:article/302897","doi":null,"is_oa":false,"landing_page_url":"http://ujpp.med-expert.com.ua/article/view/302897","pdf_url":null,"source":{"id":"https://openalex.org/S4377196123","display_name":"Scientific periodicals of Ukraine","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Ukrainian Journal of Perinatology and Pediatrics; No. 1(97) (2024): Ukrainian Journal of Perinatology and Pediatrics; 122-129","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:doaj.org/article:6cebf3ced2b94160a6a53681bd4b7e9b","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/6cebf3ced2b94160a6a53681bd4b7e9b","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"\u0423\u043a\u0440\u0430\u0456\u0308\u043d\u0441\u044c\u043a\u0438\u0438\u0306 \u0436\u0443\u0440\u043d\u0430\u043b \u041f\u0435\u0440\u0438\u043d\u0430\u0442\u043e\u043b\u043e\u0433\u0456\u044f \u0456 \u043f\u0435\u0434\u0456\u0430\u0442\u0440\u0456\u044f, Iss 1(97), Pp 122-129 (2024)","raw_type":"article"}],"best_oa_location":{"id":"doi:10.15574/pp.2024.97.122","doi":"https://doi.org/10.15574/pp.2024.97.122","is_oa":true,"landing_page_url":"http://dx.doi.org/10.15574/pp.2024.97.122","pdf_url":null,"source":{"id":"https://openalex.org/S4210205954","display_name":"Ukrainian journal of Perinatology and Pediatrics","issn_l":"2706-8757","issn":["2706-8757","2707-1375"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj"],"host_organization":"https://openalex.org/P4310321146","host_organization_name":"Group of Companies Med Expert, LLC","host_organization_lineage":["https://openalex.org/P4310321146"],"host_organization_lineage_names":["Group of Companies Med Expert, LLC"],"type":"journal"},"license":"cc-by-nc","license_id":"https://openalex.org/licenses/cc-by-nc","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"UKRAINIAN JOURNAL OF PERINATOLOGY AND PEDIATRICS","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9763000011444092}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":18,"referenced_works":["https://openalex.org/W1590600668","https://openalex.org/W2008845625","https://openalex.org/W2021049097","https://openalex.org/W2032566422","https://openalex.org/W2037224477","https://openalex.org/W2039812596","https://openalex.org/W2056556069","https://openalex.org/W2081290870","https://openalex.org/W2100182894","https://openalex.org/W2896472010","https://openalex.org/W3024970269","https://openalex.org/W3042469332","https://openalex.org/W3133228782","https://openalex.org/W3133872443","https://openalex.org/W3134537286","https://openalex.org/W3157618208","https://openalex.org/W4318215387","https://openalex.org/W4389977527"],"related_works":["https://openalex.org/W2945834871","https://openalex.org/W4390594851","https://openalex.org/W1844204668","https://openalex.org/W4414560326","https://openalex.org/W2896472010","https://openalex.org/W3214320846","https://openalex.org/W4415398099","https://openalex.org/W4238576821","https://openalex.org/W3153176859","https://openalex.org/W4311605886"],"abstract_inverted_index":{"The":[0,115,139,158,247,311],"Department":[1],"of":[2,16,26,29,51,76,82,94,109,121,133,160,169,189,214,238,265,278,302,321,324,328,338],"Psychoneurology":[3],"for":[4,333],"Children":[5],"with":[6,40,79,124,166,173,240,273,318],"Perinatal":[7],"Pathology":[8],"and":[9,19,54,72,101,142,153,233,252,262,271,280,283,299,304],"Orphan":[10],"Diseases":[11],"at":[12],"the":[13,27,83,92,107,134,195,206,215,219,230,236,287,319,322,329,334,343],"SI":[14],"\u201cInstitute":[15],"Pediatrics,":[17],"Obstetrics":[18],"Gynecology":[20],"named":[21],"after":[22],"academician":[23],"O.M.":[24],"Lukyanova":[25],"NAMS":[28],"Ukraine\u201d":[30],"has":[31],"a":[32,62,69,73,77,118,122,125,164,257,276,293,309],"multidisciplinary":[33],"team":[34],"which":[35,130],"provides":[36],"care":[37],"to":[38,48,60,67,91,199,205,256],"children":[39],"orphan":[41],"diseases":[42],"from":[43],"all":[44],"over":[45],"Ukraine.":[46],"Thanks":[47],"modern":[49,300],"methods":[50,301],"clinical,":[52],"instrumental":[53,234,303],"genetic":[55,305],"diagnostics,":[56],"it":[57],"is":[58,131],"possible":[59],"establish":[61],"definitive":[63],"diagnosis.":[64,310],"Aim":[65],"-":[66,128],"provide":[68],"literature":[70],"review":[71],"clinical":[74,119,141,232,297],"case":[75,120],"child":[78,123,165],"pathogenic":[80,212],"variants":[81],"ARID":[84,135],"family":[85],"genes,":[86],"which,":[87],"in":[88,113,218,316],"particular,":[89],"lead":[90],"development":[93,108],"Coffin-Circe":[95],"syndrome":[96],"(CCS),":[97],"autism":[98,268],"spectrum":[99,258,269],"disorder":[100],"intellectual":[102,266],"disability,":[103,267],"as":[104,106],"well":[105],"nervous":[110],"system":[111],"tumors":[112],"children.":[114],"article":[116],"presents":[117],"rare":[126],"disease":[127],"CCS,":[129],"part":[132],"gene":[136,217],"mutation":[137],"spectrum.":[138],"general":[140,288],"neurological":[143,281],"examination,":[144,298],"electroencephalographic":[145],"sleep":[146],"monitoring,":[147],"magnetic":[148,180],"resonance":[149,181],"imaging,":[150,182],"whole-exome":[151,226],"sequencing,":[152],"pathological":[154],"examination":[155],"were":[156,185,223],"performed.":[157],"difficulty":[159],"diagnosis":[161,237],"was":[162,171,197,244,313,331,340],"that":[163,259],"skin":[167],"manifestations":[168],"phacomatosis":[170],"diagnosed":[172],"subependymal":[174],"giant":[175],"cell":[176],"astrocytoma":[177],"(SG\u0421A)":[178],"by":[179,225,250,342],"but":[183],"there":[184],"no":[186],"mutations":[187,213,254],"characteristic":[188],"tuberous":[190],"sclerosis":[191],"(TSC1,":[192],"TSC2).":[193],"Pathologically,":[194],"patient":[196],"confirmed":[198],"have":[200],"grade":[201,241],"I":[202,242],"SG\u0421A":[203,243],"according":[204],"World":[207],"Health":[208],"Organization":[209],"classification.":[210],"Two":[211],"ARID1A":[216,251],"compound":[220],"heterozygous":[221],"state":[222],"detected":[224],"sequencing.":[227],"After":[228],"combining":[229],"combined":[231],"signs,":[235],"CCS":[239,272],"established.":[245],"Conclusions.":[246],"disorders":[248],"caused":[249],"ARID1B":[253],"belong":[255],"includes":[260],"syndromic":[261],"non-syndromic":[263],"cases":[264],"disorder,":[270],"or":[274],"without":[275],"variety":[277],"somatic":[279],"symptoms,":[282],"are":[284],"grouped":[285],"under":[286],"term":[289],"\u201cARID-related":[290],"disorders\u201d.":[291],"Only":[292],"thorough":[294],"medical":[295],"history,":[296],"diagnostics":[306],"can":[307],"make":[308],"research":[312],"carried":[314],"out":[315],"accordance":[317],"principles":[320],"Declaration":[323],"Helsinki.":[325],"Informed":[326],"consent":[327],"women":[330],"obtained":[332],"research.":[335],"No":[336],"conflict":[337],"interests":[339],"declared":[341],"authors.":[344]},"counts_by_year":[],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2024-05-02T00:00:00"}
