{"id":"https://openalex.org/W2785406397","doi":"https://doi.org/10.1002/ajmg.a.38624","title":"Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review","display_name":"Incidence, puberty, and fertility in 45,X/47,XXX mosaicism: Report of a patient and a literature review","publication_year":2018,"publication_date":"2018-02-01","ids":{"openalex":"https://openalex.org/W2785406397","doi":"https://doi.org/10.1002/ajmg.a.38624","mag":"2785406397","pmid":"https://pubmed.ncbi.nlm.nih.gov/29388329"},"language":"en","primary_location":{"id":"doi:10.1002/ajmg.a.38624","doi":"https://doi.org/10.1002/ajmg.a.38624","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.38624","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"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 Part A","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/A5033749081","display_name":"Richard J. Martin","orcid":"https://orcid.org/0000-0003-2422-1847","observed_orcids":["https://orcid.org/0000-0003-2422-1847"]},"institutions":[{"id":"https://openalex.org/I1289110261","display_name":"Belfast Health and Social Care Trust","ror":"https://ror.org/02tdmfk69","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1289110261"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Richard J. Martin","raw_affiliation_strings":["Department of Medical Genetics, Belfast HSC Trust, Belfast, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Belfast HSC Trust, Belfast, United Kingdom","institution_ids":["https://openalex.org/I1289110261"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Geoff Smith","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1289110261","display_name":"Belfast Health and Social Care Trust","ror":"https://ror.org/02tdmfk69","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1289110261"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Geoff Smith","raw_affiliation_strings":["Department of Medical Genetics, Belfast HSC Trust, Belfast, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Belfast HSC Trust, Belfast, United Kingdom","institution_ids":["https://openalex.org/I1289110261"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062971531","display_name":"James B. Hughes","orcid":"https://orcid.org/0000-0002-9290-1505","observed_orcids":["https://orcid.org/0000-0002-9290-1505"]},"institutions":[{"id":"https://openalex.org/I2801811097","display_name":"Daisy Hill Hospital","ror":"https://ror.org/04sheqe49","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801811097","https://openalex.org/I4210126514"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"James Hughes","raw_affiliation_strings":["Department of Paediatrics, Daisy Hill Hospital, Newry, United Kingdom"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Daisy Hill Hospital, Newry, United Kingdom","institution_ids":["https://openalex.org/I2801811097"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5059254665","display_name":"Patrick J. Morrison","orcid":"https://orcid.org/0000-0002-2823-1762","observed_orcids":["https://orcid.org/0000-0002-2823-1762","https://orcid.org/0000-0003-0773-7817","https://orcid.org/0000-0003-0920-3405"]},"institutions":[{"id":"https://openalex.org/I1289110261","display_name":"Belfast Health and Social Care Trust","ror":"https://ror.org/02tdmfk69","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1289110261"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Patrick J. Morrison","raw_affiliation_strings":["Department of Medical Genetics, Belfast HSC Trust, Belfast, United Kingdom"],"raw_orcid":"https://orcid.org/0000-0002-2823-1762","affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Belfast HSC Trust, Belfast, United Kingdom","institution_ids":["https://openalex.org/I1289110261"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":["https://openalex.org/A5059254665"],"corresponding_institution_ids":["https://openalex.org/I1289110261"],"apc_list":{"value":4710,"currency":"USD","value_usd":4710},"apc_paid":null,"fwci":1.0567,"has_fulltext":false,"cited_by_count":11,"citation_normalized_percentile":{"value":0.74470534,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":96},"biblio":{"volume":"176","issue":"4","first_page":"1029","last_page":"1029"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.9735999703407288,"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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.9735999703407288,"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/T11956","display_name":"Sexual Differentiation and Disorders","score":0.024900000542402267,"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"}},{"id":"https://openalex.org/T10364","display_name":"Reproductive Biology and Fertility","score":9.999999747378752e-05,"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/turner-syndrome","display_name":"Turner syndrome","score":0.8690000176429749},{"id":"https://openalex.org/keywords/incidence","display_name":"incidence","score":0.5},{"id":"https://openalex.org/keywords/puberty","display_name":"puberty","score":0.8949999809265137},{"id":"https://openalex.org/keywords/fertility","display_name":"fertility","score":0.9139999747276306},{"id":"https://openalex.org/keywords/gonadal-dysgenesis","display_name":"gonadal dysgenesis","score":0.6299999952316284},{"id":"https://openalex.org/keywords/sex-chromosome-aneuploidy","display_name":"sex chromosome aneuploidy","score":0.6499999761581421}],"concepts":[{"id":"https://openalex.org/C518429986","wikidata":"https://www.wikidata.org/wiki/Q964401","display_name":"Fertility","level":3,"score":0.7783602476119995},{"id":"https://openalex.org/C61511704","wikidata":"https://www.wikidata.org/wiki/Q1671857","display_name":"Incidence (geometry)","level":2,"score":0.5987251400947571},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.4158504605293274},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3741288185119629},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.34229838848114014},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3331870138645172},{"id":"https://openalex.org/C149923435","wikidata":"https://www.wikidata.org/wiki/Q37732","display_name":"Demography","level":1,"score":0.3303733170032501},{"id":"https://openalex.org/C121332964","wikidata":"https://www.wikidata.org/wiki/Q413","display_name":"Physics","level":0,"score":0.14868497848510742},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.07598802447319031},{"id":"https://openalex.org/C144024400","wikidata":"https://www.wikidata.org/wiki/Q21201","display_name":"Sociology","level":0,"score":0.06946265697479248},{"id":"https://openalex.org/C120665830","wikidata":"https://www.wikidata.org/wiki/Q14620","display_name":"Optics","level":1,"score":0.0},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002648","descriptor_name":"Child","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":"D005298","descriptor_name":"Fertility","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011627","descriptor_name":"Puberty","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012729","descriptor_name":"Sex Chromosome Aberrations","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014314","descriptor_name":"Trisomy","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D014424","descriptor_name":"Turner Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D014424","descriptor_name":"Turner Syndrome","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D015994","descriptor_name":"Incidence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D041321","descriptor_name":"Chromosomes, Human, X","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056910","descriptor_name":"Republic of Korea","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D058533","descriptor_name":"Sex Chromosome Disorders of Sex Development","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":true},{"descriptor_ui":"D058533","descriptor_name":"Sex Chromosome Disorders of Sex Development","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"descriptor_ui":"D059786","descriptor_name":"Abnormal Karyotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/ajmg.a.38624","doi":"https://doi.org/10.1002/ajmg.a.38624","is_oa":false,"landing_page_url":"https://doi.org/10.1002/ajmg.a.38624","pdf_url":null,"source":{"id":"https://openalex.org/S180901878","display_name":"American Journal of Medical Genetics Part A","issn_l":"1552-4825","issn":["1552-4825","1552-4833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-3","vabb-shw"],"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 Part A","raw_type":"journal-article"},{"id":"pmid:29388329","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/29388329","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. Part A","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.8371999859809875}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":3,"referenced_works":["https://openalex.org/W1979920381","https://openalex.org/W2019686806","https://openalex.org/W2612179590"],"related_works":["https://openalex.org/W2469972483","https://openalex.org/W2401349076","https://openalex.org/W3083030584","https://openalex.org/W2141853508","https://openalex.org/W2072937452","https://openalex.org/W2061111700","https://openalex.org/W2411746240","https://openalex.org/W2399947816","https://openalex.org/W199041159","https://openalex.org/W2417918978"],"abstract_inverted_index":null,"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2018-02-23T00:00:00"}
