{"id":"https://openalex.org/W2991569408","doi":null,"title":"Are expanded alleles of the FMR1 gene related to unexplained recurrent miscarriages?","display_name":"Are expanded alleles of the FMR1 gene related to unexplained recurrent miscarriages?","publication_year":2018,"publication_date":"2018-07-01","ids":{"openalex":"https://openalex.org/W2991569408","mag":"2991569408","pmid":"https://pubmed.ncbi.nlm.nih.gov/31641334","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/6801122"},"language":"en","primary_location":{"id":"pmid:31641334","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31641334","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hippokratia","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6801122/","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5089982873","display_name":"Marios Fragkos","orcid":"https://orcid.org/0000-0002-5443-1020","observed_orcids":["https://orcid.org/0000-0002-5443-1020"]},"institutions":[{"id":"https://openalex.org/I4210104108","display_name":"Papageorgiou General Hospital","ror":"https://ror.org/01663qy58","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210104108"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"M Fragkos","raw_affiliation_strings":["1 Department of Obstetrics and Gynecology, Papageorgiou University Hospital, Thessaloniki, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Department of Obstetrics and Gynecology, Papageorgiou University Hospital, Thessaloniki, Greece","institution_ids":["https://openalex.org/I4210104108"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5064849035","display_name":"Helen Bili","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210104108","display_name":"Papageorgiou General Hospital","ror":"https://ror.org/01663qy58","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210104108"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"H Bili","raw_affiliation_strings":["1 Department of Obstetrics and Gynecology, Papageorgiou University Hospital, Thessaloniki, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Department of Obstetrics and Gynecology, Papageorgiou University Hospital, Thessaloniki, Greece","institution_ids":["https://openalex.org/I4210104108"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006269731","display_name":"Dimitrios Ntelios","orcid":"https://orcid.org/0000-0002-3519-3418","observed_orcids":["https://orcid.org/0000-0002-3519-3418","https://orcid.org/0000-0003-2079-7718"]},"institutions":[{"id":"https://openalex.org/I21370196","display_name":"Aristotle University of Thessaloniki","ror":"https://ror.org/02j61yw88","country_code":"GR","type":"education","lineage":["https://openalex.org/I21370196"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"D Ntelios","raw_affiliation_strings":["Laboratory of Biological Chemistry, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Biological Chemistry, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece","institution_ids":["https://openalex.org/I21370196"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003019521","display_name":"Georgios Tzimagiorgis","orcid":"https://orcid.org/0000-0001-8339-9800","observed_orcids":["https://orcid.org/0000-0001-8339-9800"]},"institutions":[{"id":"https://openalex.org/I21370196","display_name":"Aristotle University of Thessaloniki","ror":"https://ror.org/02j61yw88","country_code":"GR","type":"education","lineage":["https://openalex.org/I21370196"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"G Tzimagiorgis","raw_affiliation_strings":["Laboratory of Biological Chemistry, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Biological Chemistry, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece","institution_ids":["https://openalex.org/I21370196"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012599511","display_name":"Basil C. Tarlatzis","orcid":"https://orcid.org/0000-0001-7183-2515","observed_orcids":["https://orcid.org/0000-0001-7183-2515"]},"institutions":[{"id":"https://openalex.org/I4210104108","display_name":"Papageorgiou General Hospital","ror":"https://ror.org/01663qy58","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210104108"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"B C Tarlatzis","raw_affiliation_strings":["1 Department of Obstetrics and Gynecology, Papageorgiou University Hospital, Thessaloniki, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"1 Department of Obstetrics and Gynecology, Papageorgiou University Hospital, Thessaloniki, Greece","institution_ids":["https://openalex.org/I4210104108"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":1,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":93},"biblio":{"volume":"22","issue":"3","first_page":"132","last_page":"136"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9922000169754028,"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":0.9922000169754028,"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/T11510","display_name":"Reproductive System and Pregnancy","score":0.0020000000949949026,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0007999999797903001,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/fmr1","display_name":"FMR1 gene","score":0.996999979019165},{"id":"https://openalex.org/keywords/cgg-repeat-expansion","display_name":"CGG repeat expansion","score":0.8709999918937683},{"id":"https://openalex.org/keywords/premutation","display_name":"premutation","score":0.6269999742507935},{"id":"https://openalex.org/keywords/unexplained-recurrent-miscarriage","display_name":"unexplained recurrent spontaneous abortion","score":0.8920000195503235}],"concepts":[{"id":"https://openalex.org/C2779063550","wikidata":"https://www.wikidata.org/wiki/Q905435","display_name":"FMR1","level":4,"score":0.8789517879486084},{"id":"https://openalex.org/C2780625311","wikidata":"https://www.wikidata.org/wiki/Q25787","display_name":"Recurrent miscarriage","level":4,"score":0.7896040678024292},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7612806558609009},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.6177099347114563},{"id":"https://openalex.org/C156957248","wikidata":"https://www.wikidata.org/wiki/Q1862216","display_name":"Odds ratio","level":2,"score":0.5014755725860596},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4913398325443268},{"id":"https://openalex.org/C2779245376","wikidata":"https://www.wikidata.org/wiki/Q28693","display_name":"Miscarriage","level":3,"score":0.4485520124435425},{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.42117375135421753},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4187605381011963},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.3510281443595886},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.33837980031967163},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.31026971340179443},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.28672030568122864},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.18139219284057617},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.1514345407485962},{"id":"https://openalex.org/C118552586","wikidata":"https://www.wikidata.org/wiki/Q7867","display_name":"Psychiatry","level":1,"score":0.08039805293083191},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[],"locations_count":3,"locations":[{"id":"pmid:31641334","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31641334","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hippokratia","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:6801122","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6801122/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hippokratia","raw_type":"Text"},{"id":"mag:2991569408","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/31641334","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":{"id":"pmh:oai:pubmedcentral.nih.gov:6801122","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC6801122/","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Hippokratia","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9391000270843506,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":24,"referenced_works":["https://openalex.org/W166351160","https://openalex.org/W1545516169","https://openalex.org/W1963624889","https://openalex.org/W1974689327","https://openalex.org/W1990861163","https://openalex.org/W1992986529","https://openalex.org/W2000064832","https://openalex.org/W2001276835","https://openalex.org/W2051013729","https://openalex.org/W2063127778","https://openalex.org/W2069017725","https://openalex.org/W2073347350","https://openalex.org/W2084162673","https://openalex.org/W2089543835","https://openalex.org/W2097787341","https://openalex.org/W2101567129","https://openalex.org/W2101831564","https://openalex.org/W2112646528","https://openalex.org/W2122400358","https://openalex.org/W2134405707","https://openalex.org/W2144194595","https://openalex.org/W2169492321","https://openalex.org/W4231745746","https://openalex.org/W4253353642"],"related_works":["https://openalex.org/W2981259342","https://openalex.org/W4281612019","https://openalex.org/W2946967187","https://openalex.org/W3042494807","https://openalex.org/W7137278988","https://openalex.org/W1140582206","https://openalex.org/W4320513635","https://openalex.org/W2171890931","https://openalex.org/W2890719576","https://openalex.org/W2054532375"],"abstract_inverted_index":{"BACKGROUND:":[0],")":[1],"gene":[2,32,116],"in":[3,35,46,52,122],"women":[4,18,45],"with":[5],"unexplained":[6],"recurrent":[7,106],"miscarriages.":[8],"METHODS:":[9],"gene.":[10],"We":[11,22,42,75],"further":[12],"evaluated":[13],"using":[14],"sequencing":[15],"analysis,":[16],"those":[17],"marked":[19],"as":[20],"positive.":[21],"set":[23],"the":[24,36,47,53,68,80,102,114,133],"limit":[25],"at":[26],"more":[27],"than":[28],"40":[29],"repeats.":[30],"RESULTS:":[31],"differ":[33],"significantly":[34],"two":[37],"population":[38],"groups":[39],"(p":[40,93],"=0.027).":[41],"found":[43,76],"four":[44],"miscarriage":[48,107],"group":[49,55],"and":[50,87],"one":[51],"control":[54],"positive":[56,69],"for":[57,101],"carrying":[58],"premutation":[59],"alleles":[60],"(Odds":[61],"ratio:":[62],"4.267,":[63],"confidence":[64],"interval:":[65],"0.459-39.629).":[66],"All":[67],"cases":[70],"involved":[71],"intermediate":[72],"zone":[73],"carriers.":[74],"no":[77],"association":[78],"between":[79],"number":[81,92],"of":[82,104,113,124,135],"abortions":[83],"each":[84],"woman":[85],"had,":[86],"her":[88],"respective":[89],"CGG":[90,110],"repeat":[91],"=0.255).":[94],"CONCLUSIONS:":[95],"Many":[96],"couples":[97],"are":[98,129],"desperately":[99],"looking":[100],"cause":[103],"their":[105],"suffering.":[108],"The":[109],"expanded":[111],"allele":[112],"FMR1":[115],"is":[117],"possibly":[118],"to":[119,131],"be":[120],"blamed":[121],"some":[123],"these":[125],"cases.":[126],"More":[127],"studies":[128],"needed":[130],"support":[132],"results":[134],"this":[136],"prototype":[137],"study.":[138],"HIPPOKRATIA":[139],"2018,":[140],"22(3):":[141],"132-136.":[142]},"counts_by_year":[{"year":2022,"cited_by_count":1}],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2019-12-05T00:00:00"}
