{"id":"https://openalex.org/W4294569361","doi":"https://doi.org/10.12996/gmj.2022.83","title":"FMR1 Gene Mutation Analysis and CGG Repeat Number Distribution from a Single Center","display_name":"FMR1 Gene Mutation Analysis and CGG Repeat Number Distribution from a Single Center","publication_year":2022,"publication_date":"2022-09-04","ids":{"openalex":"https://openalex.org/W4294569361","doi":"https://doi.org/10.12996/gmj.2022.83"},"language":"en","primary_location":{"id":"doi:10.12996/gmj.2022.83","doi":"https://doi.org/10.12996/gmj.2022.83","is_oa":true,"landing_page_url":"https://doi.org/10.12996/gmj.2022.83","pdf_url":null,"source":{"id":"https://openalex.org/S4210229429","display_name":"Gazi Medical Journal","issn_l":"1300-056X","issn":["1300-056X","2147-2092"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","dongbi-c","poland-20","russia-white-list-4","tr-dizin"],"host_organization":"https://openalex.org/P4310318265","host_organization_name":"Gazi University","host_organization_lineage":["https://openalex.org/P4310318265"],"host_organization_lineage_names":["Gazi University"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gazi Medical Journal","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","doaj"],"open_access":{"is_oa":true,"oa_status":"diamond","oa_url":"https://doi.org/10.12996/gmj.2022.83","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":null,"display_name":"YUNUS ARIKAN","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799303410","display_name":"Yozgat Bozok \u00dcniversitesi","ror":"https://ror.org/04qvdf239","country_code":"TR","type":"education","lineage":["https://openalex.org/I2799303410"]}],"countries":["TR"],"is_corresponding":false,"raw_author_name":"YUNUS ARIKAN","raw_affiliation_strings":["YOZGAT BOZOK UNIVERSITY, SCHOOL OF MEDICINE, INTERNAL MEDICAL SCIENCES, DEPARTMENT OF MEDICAL GENETICS"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"YOZGAT BOZOK UNIVERSITY, SCHOOL OF MEDICINE, INTERNAL MEDICAL SCIENCES, DEPARTMENT OF MEDICAL GENETICS","institution_ids":["https://openalex.org/I2799303410"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Turker Bilgen","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Turker Bilgen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Ercan Mihci","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ercan Mihci","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"Ozgur Duman","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ozgur Duman","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005912165","display_name":"Tu\u011fba Karaman Mercan","orcid":"https://orcid.org/0000-0003-3341-9513","observed_orcids":["https://orcid.org/0000-0003-3341-9513"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Tugba Karaman","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":null,"display_name":"Ibrahim Keser","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Ibrahim Keser","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"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":0.10957879,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"33","issue":"4","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":1.0,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":1.0,"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/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11015","display_name":"Down syndrome and intellectual disability research","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2739","display_name":"Public Health, Environmental and Occupational Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/fmr1","display_name":"FMR1 gene","score":0.9649999737739563},{"id":"https://openalex.org/keywords/fragile-x-syndrome","display_name":"fragile X syndrome","score":0.8650000095367432},{"id":"https://openalex.org/keywords/cgg-repeat-expansion","display_name":"CGG repeat expansion","score":0.8539999723434448},{"id":"https://openalex.org/keywords/x-linked-intellectual-disability","display_name":"X-linked intellectual disability","score":0.7950000166893005},{"id":"https://openalex.org/keywords/cpg-island-methylation","display_name":"CpG island methylation","score":0.8420000076293945},{"id":"https://openalex.org/keywords/5-untranslated-region","display_name":"5' untranslated region","score":0.7260000109672546},{"id":"https://openalex.org/keywords/mutation-analysis","display_name":"mutation analysis","score":0.33399999141693115}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8367339372634888},{"id":"https://openalex.org/C2779063550","wikidata":"https://www.wikidata.org/wiki/Q905435","display_name":"FMR1","level":4,"score":0.6108015179634094},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5598437786102295},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.49530544877052307},{"id":"https://openalex.org/C2779463800","wikidata":"https://www.wikidata.org/wiki/Q5062222","display_name":"Center (category theory)","level":2,"score":0.44690391421318054},{"id":"https://openalex.org/C2780073493","wikidata":"https://www.wikidata.org/wiki/Q7523837","display_name":"Single Center","level":2,"score":0.43087613582611084},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3874196410179138},{"id":"https://openalex.org/C3020422209","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile x","level":3,"score":0.31706252694129944},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.1283685266971588},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.06133541464805603},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.0},{"id":"https://openalex.org/C8010536","wikidata":"https://www.wikidata.org/wiki/Q160398","display_name":"Crystallography","level":1,"score":0.0}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.12996/gmj.2022.83","doi":"https://doi.org/10.12996/gmj.2022.83","is_oa":true,"landing_page_url":"https://doi.org/10.12996/gmj.2022.83","pdf_url":null,"source":{"id":"https://openalex.org/S4210229429","display_name":"Gazi Medical Journal","issn_l":"1300-056X","issn":["1300-056X","2147-2092"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","dongbi-c","poland-20","russia-white-list-4","tr-dizin"],"host_organization":"https://openalex.org/P4310318265","host_organization_name":"Gazi University","host_organization_lineage":["https://openalex.org/P4310318265"],"host_organization_lineage_names":["Gazi University"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gazi Medical Journal","raw_type":"journal-article"}],"best_oa_location":{"id":"doi:10.12996/gmj.2022.83","doi":"https://doi.org/10.12996/gmj.2022.83","is_oa":true,"landing_page_url":"https://doi.org/10.12996/gmj.2022.83","pdf_url":null,"source":{"id":"https://openalex.org/S4210229429","display_name":"Gazi Medical Journal","issn_l":"1300-056X","issn":["1300-056X","2147-2092"],"is_oa":true,"is_in_doaj":true,"is_core":false,"listed_in":["doaj","dongbi-c","poland-20","russia-white-list-4","tr-dizin"],"host_organization":"https://openalex.org/P4310318265","host_organization_name":"Gazi University","host_organization_lineage":["https://openalex.org/P4310318265"],"host_organization_lineage_names":["Gazi University"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Gazi Medical Journal","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9476000070571899}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W4232787920","https://openalex.org/W3030221107","https://openalex.org/W7098705672","https://openalex.org/W2371478871","https://openalex.org/W2076771828","https://openalex.org/W2149495205","https://openalex.org/W2319241671","https://openalex.org/W2094210301","https://openalex.org/W2037864097","https://openalex.org/W2122400358"],"abstract_inverted_index":{"Background:":[0],"Mutation":[1],"occurring":[2],"in":[3],"fragile":[4,60],"X":[5,19,61],"mental":[6],"retardation":[7,24],"1":[8],"(FMR1)":[9],"gene":[10,27],"is":[11,45,69],"acknowledged":[12],"as":[13],"the":[14,42,49,52,67,75,77,82],"most":[15],"common":[16,71],"cause":[17],"for":[18],"chromosome":[20],"linked":[21],"intellectual":[22],"disability/mental":[23],"(XLID/XLMR).":[25],"This":[26],"harbors":[28],"unstable":[29],"CGG":[30],"triplet":[31],"repeats":[32],"within":[33],"its":[34,56],"5'UTR":[35],"(untranslated":[36],"region).":[37],"Loss":[38],"of":[39,41,51],"function":[40],"FMR1,":[43],"which":[44],"mostly":[46,80],"due":[47],"to":[48],"hypermethylation":[50],"CpG":[53],"islands":[54],"on":[55,81],"promoter":[57],"region,":[58],"causes":[59],"syndrome":[62],"(FXS).":[63],"Displaying":[64],"different":[65],"frequencies,":[66],"FXS":[68],"a":[70],"phenomenon":[72],"all":[73],"over":[74],"world,":[76],"studies":[78],"focus":[79],"Caucasian":[83],"population.":[84]},"counts_by_year":[],"updated_date":"2026-09-29T14:09:16.559479","created_date":"2022-09-04T00:00:00"}
