{"id":"https://openalex.org/W1974066487","doi":"https://doi.org/10.1002/ajmg.1320230144","title":"Fragile X: Carrier detection in pregnancy","display_name":"Fragile X: Carrier detection in pregnancy","publication_year":1986,"publication_date":"1986-01-01","ids":{"openalex":"https://openalex.org/W1974066487","doi":"https://doi.org/10.1002/ajmg.1320230144","mag":"1974066487","pmid":"https://pubmed.ncbi.nlm.nih.gov/3953663"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.1320230144","doi":"https://doi.org/10.1002/ajmg.1320230144","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.1320230144","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5041429809","display_name":"Niels Tommerup","orcid":"https://orcid.org/0000-0003-2304-0112","observed_orcids":["https://orcid.org/0000-0003-2304-0112"]},"institutions":[{"id":"https://openalex.org/I4210094934","display_name":"Kennedy Center","ror":"https://ror.org/00kzzgw26","country_code":"DK","type":"healthcare","lineage":["https://openalex.org/I2802567020","https://openalex.org/I4210094934"]}],"countries":["DK"],"is_corresponding":true,"raw_author_name":"Niels Tommerup","raw_affiliation_strings":["The John F. Kennedy Institute, Glostrup, Denmark"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The John F. Kennedy Institute, Glostrup, Denmark","institution_ids":["https://openalex.org/I4210094934"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113675155","display_name":"G\u00f6sta Holmgren","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210099621","display_name":"University Hospital of Ume\u00e5","ror":"https://ror.org/012k96e85","country_code":"SE","type":"healthcare","lineage":["https://openalex.org/I4210099621"]}],"countries":["SE"],"is_corresponding":false,"raw_author_name":"G\u00f6sta Holmgren","raw_affiliation_strings":["University Hospital of Umea\u030a, Sweden","University Hospital of Ume\u00e5, Sweden"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Hospital of Umea\u030a, Sweden","institution_ids":["https://openalex.org/I4210099621"]},{"raw_affiliation_string":"University Hospital of Ume\u00e5, Sweden","institution_ids":["https://openalex.org/I4210099621"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5050655185","display_name":"Peter J. Steinbach","orcid":"https://orcid.org/0000-0002-6710-3472","observed_orcids":["https://orcid.org/0000-0002-6710-3472"]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Peter Steinbach","raw_affiliation_strings":["University of Ulm, Germany","Univ. of Ulm (Germany),"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University of Ulm, Germany","institution_ids":["https://openalex.org/I196349391"]},{"raw_affiliation_string":"Univ. of Ulm (Germany),","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5074375882","display_name":"John M. Opitz","orcid":"https://orcid.org/0000-0002-6991-8835","observed_orcids":["https://orcid.org/0000-0002-6991-8835"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"John M. Opitz","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5066612569","display_name":"James F. Reynolds","orcid":"https://orcid.org/0000-0003-2367-879X","observed_orcids":["https://orcid.org/0000-0003-2367-879X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"James F. Reynolds","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5041429809"],"corresponding_institution_ids":["https://openalex.org/I4210094934"],"apc_list":null,"apc_paid":null,"fwci":0.2537,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.53393086,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"23","issue":"1-2","first_page":"527","last_page":"530"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.9932000041007996,"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":0.9932000041007996,"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.004000000189989805,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T11642","display_name":"Genomics and Rare Diseases","score":0.0006000000284984708,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/fragile-x-syndrome","display_name":"fragile X syndrome","score":0.9570000171661377},{"id":"https://openalex.org/keywords/carrier-detection","display_name":"carrier detection","score":0.8669999837875366},{"id":"https://openalex.org/keywords/pregnancy","display_name":"pregnancy","score":0.8799999952316284},{"id":"https://openalex.org/keywords/obligate-carriers","display_name":"obligate carriers","score":0.7820000052452087},{"id":"https://openalex.org/keywords/gene-expression","display_name":"gene expression","score":0.628000020980835},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.5839999914169312},{"id":"https://openalex.org/keywords/fmr1","display_name":"FMR1 gene","score":0.6570000052452087}],"concepts":[{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.6129370331764221},{"id":"https://openalex.org/C3020422209","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile x","level":3,"score":0.5909931659698486},{"id":"https://openalex.org/C2777630245","wikidata":"https://www.wikidata.org/wiki/Q221472","display_name":"Fragile X syndrome","level":2,"score":0.49825501441955566},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4100882411003113},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3836054503917694},{"id":"https://openalex.org/C131872663","wikidata":"https://www.wikidata.org/wiki/Q5284418","display_name":"Obstetrics","level":1,"score":0.3578701317310333},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.332422137260437},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10810256004333496}],"mesh":[{"descriptor_ui":"D003582","descriptor_name":"Cytogenetics","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D005600","descriptor_name":"Fragile X Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006580","descriptor_name":"Genetic Carrier Screening","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011248","descriptor_name":"Pregnancy Complications","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D011248","descriptor_name":"Pregnancy Complications","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012729","descriptor_name":"Sex Chromosome Aberrations","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.1320230144","doi":"https://doi.org/10.1002/ajmg.1320230144","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.1320230144","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:3953663","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3953663","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":"American journal of medical genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"study_designs":[],"awards":[],"funders":[{"id":"https://openalex.org/F4320323462","display_name":"Helsefonden","ror":"https://ror.org/05mb6z682"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":4,"referenced_works":["https://openalex.org/W2041401752","https://openalex.org/W2138410406","https://openalex.org/W2316087526","https://openalex.org/W2442706598"],"related_works":["https://openalex.org/W2155551612","https://openalex.org/W2079119105","https://openalex.org/W1978832629","https://openalex.org/W2889527003","https://openalex.org/W2148921480","https://openalex.org/W2042117383","https://openalex.org/W2149339663","https://openalex.org/W1972655322","https://openalex.org/W1527868050","https://openalex.org/W2065487241"],"abstract_inverted_index":{"The":[0],"expression":[1,24],"of":[2],"the":[3,23,32],"fragile":[4],"X":[5],"in":[6,31,46],"9":[7],"pregnant":[8],"women":[9],"(4":[10],"obligate":[11],"carriers":[12,15],"and":[13],"5":[14],"at":[16],"risk)":[17],"was":[18],"not":[19],"significantly":[20],"different":[21],"from":[22],"observed":[25],"either":[26],"before":[27],"or":[28],"after":[29],"pregnancy":[30,39],"same":[33],"individuals.":[34],"Hence,":[35],"carrier":[36],"diagnosis":[37],"during":[38],"seems":[40],"to":[41],"be":[42],"as":[43,45],"reliable":[44],"non-pregnant":[47],"women.":[48]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}