{"id":"https://openalex.org/W1973857941","doi":"https://doi.org/10.1038/jhg.2010.155","title":"Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure","display_name":"Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure","publication_year":2010,"publication_date":"2010-12-09","ids":{"openalex":"https://openalex.org/W1973857941","doi":"https://doi.org/10.1038/jhg.2010.155","mag":"1973857941","pmid":"https://pubmed.ncbi.nlm.nih.gov/21150920"},"language":"en","primary_location":{"id":"doi:10.1038/jhg.2010.155","doi":"https://doi.org/10.1038/jhg.2010.155","is_oa":false,"landing_page_url":"https://doi.org/10.1038/jhg.2010.155","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"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/A5084170545","display_name":"Akira Nishimura\u2010Tadaki","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Akira Nishimura-Tadaki","raw_affiliation_strings":["Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan","Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan","institution_ids":["https://openalex.org/I89630735"]},{"raw_affiliation_string":"Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5035193197","display_name":"Takahito Wada","orcid":"https://orcid.org/0000-0002-9540-1354","observed_orcids":["https://orcid.org/0000-0002-9540-1354"]},"institutions":[{"id":"https://openalex.org/I4210115195","display_name":"Kanagawa Children's Medical Center","ror":"https://ror.org/022h0tq76","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210115195"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Takahito Wada","raw_affiliation_strings":["Division of Neurology, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Neurology, Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan","institution_ids":["https://openalex.org/I4210115195"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016021269","display_name":"Gul Bano","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I165862685","display_name":"St George's, University of London","ror":"https://ror.org/040f08y74","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I165862685","https://openalex.org/I4401726869"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Gul Bano","raw_affiliation_strings":["Department of Cellular and Molecular Medicine, St George's University of London, London, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cellular and Molecular Medicine, St George's University of London, London, UK","institution_ids":["https://openalex.org/I165862685"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Karen Gough","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1316052090","display_name":"Mater Health Services","ror":"https://ror.org/03mjtdk61","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1316052090"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Karen Gough","raw_affiliation_strings":["Mater Pathology, Mater Health Services, Brisbane, Queensland, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mater Pathology, Mater Health Services, Brisbane, Queensland, Australia","institution_ids":["https://openalex.org/I1316052090"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5071974605","display_name":"Janet Warner","orcid":"https://orcid.org/0009-0008-5663-8317","observed_orcids":["https://orcid.org/0009-0008-5663-8317"]},"institutions":[{"id":"https://openalex.org/I1316052090","display_name":"Mater Health Services","ror":"https://ror.org/03mjtdk61","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I1316052090"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"Janet Warner","raw_affiliation_strings":["Mater Pathology, Mater Health Services, Brisbane, Queensland, Australia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Mater Pathology, Mater Health Services, Brisbane, Queensland, Australia","institution_ids":["https://openalex.org/I1316052090"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5088830469","display_name":"Tomoki Kosho","orcid":"https://orcid.org/0000-0002-8344-7507","observed_orcids":["https://orcid.org/0000-0002-8344-7507"]},"institutions":[{"id":"https://openalex.org/I137975476","display_name":"Shinshu University","ror":"https://ror.org/0244rem06","country_code":"JP","type":"education","lineage":["https://openalex.org/I137975476"]},{"id":"https://openalex.org/I4210129652","display_name":"Shinshu University Hospital","ror":"https://ror.org/03a2hf118","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210129652"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Tomoki Kosho","raw_affiliation_strings":["Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan","institution_ids":["https://openalex.org/I137975476","https://openalex.org/I4210129652"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110039665","display_name":"Noriko Ando","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210136279","display_name":"Yokohama Municipal Citizen's Hospital","ror":"https://ror.org/034s1fw96","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210136279"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Noriko Ando","raw_affiliation_strings":["Division of Obstetrics and Gynecology, Yokohama Municipal Citizens Hospital, Yokohama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Obstetrics and Gynecology, Yokohama Municipal Citizens Hospital, Yokohama, Japan","institution_ids":["https://openalex.org/I4210136279"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012338598","display_name":"Haruka Hamanoue","orcid":"https://orcid.org/0000-0002-6008-4002","observed_orcids":["https://orcid.org/0000-0002-6008-4002"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Haruka Hamanoue","raw_affiliation_strings":["Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan","Department of Obstetrics and Gynecology and Reproductive Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan","institution_ids":["https://openalex.org/I89630735"]},{"raw_affiliation_string":"Department of Obstetrics and Gynecology and Reproductive Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5012434414","display_name":"Hideya Sakakibara","orcid":"https://orcid.org/0000-0002-8508-8931","observed_orcids":["https://orcid.org/0000-0002-8508-8931"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hideya Sakakibara","raw_affiliation_strings":["Department of Obstetrics and Gynecology and Reproductive Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynecology and Reproductive Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034461584","display_name":"Gen Nishimura","orcid":"https://orcid.org/0000-0003-0557-230X","observed_orcids":["https://orcid.org/0000-0003-0557-230X"]},"institutions":[{"id":"https://openalex.org/I4210162179","display_name":"Tokyo Metropolitan Kiyose Children's Hospital","ror":"https://ror.org/05bp3jx78","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210162179"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Gen Nishimura","raw_affiliation_strings":["Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Radiology, Tokyo Metropolitan Kiyose Children's Hospital, Tokyo, Japan","institution_ids":["https://openalex.org/I4210162179"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020378125","display_name":"Yoshinori Tsurusaki","orcid":"https://orcid.org/0000-0002-7240-6355","observed_orcids":["https://orcid.org/0000-0002-7240-6355"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshinori Tsurusaki","raw_affiliation_strings":["Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5024870998","display_name":"Hiroshi Doi","orcid":"https://orcid.org/0000-0001-5807-2523","observed_orcids":["https://orcid.org/0000-0001-5807-2523"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hiroshi Doi","raw_affiliation_strings":["Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001942683","display_name":"Noriko Miyake","orcid":"https://orcid.org/0000-0003-0987-310X","observed_orcids":["https://orcid.org/0000-0003-0987-310X","https://orcid.org/0000-0001-5322-2983"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Noriko Miyake","raw_affiliation_strings":["Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110008268","display_name":"Keiko Wakui","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I137975476","display_name":"Shinshu University","ror":"https://ror.org/0244rem06","country_code":"JP","type":"education","lineage":["https://openalex.org/I137975476"]},{"id":"https://openalex.org/I4210129652","display_name":"Shinshu University Hospital","ror":"https://ror.org/03a2hf118","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210129652"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Keiko Wakui","raw_affiliation_strings":["Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan","institution_ids":["https://openalex.org/I137975476","https://openalex.org/I4210129652"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5082917975","display_name":"Hirotomo Saitsu","orcid":"https://orcid.org/0000-0003-0723-0960","observed_orcids":["https://orcid.org/0000-0003-0723-0960"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Hirotomo Saitsu","raw_affiliation_strings":["Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072772963","display_name":"Yoshimitsu Fukushima","orcid":"https://orcid.org/0000-0001-6224-4914","observed_orcids":["https://orcid.org/0000-0001-6224-4914"]},"institutions":[{"id":"https://openalex.org/I137975476","display_name":"Shinshu University","ror":"https://ror.org/0244rem06","country_code":"JP","type":"education","lineage":["https://openalex.org/I137975476"]},{"id":"https://openalex.org/I4210129652","display_name":"Shinshu University Hospital","ror":"https://ror.org/03a2hf118","country_code":"JP","type":"healthcare","lineage":["https://openalex.org/I4210129652"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Yoshimitsu Fukushima","raw_affiliation_strings":["Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan","institution_ids":["https://openalex.org/I137975476","https://openalex.org/I4210129652"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038525164","display_name":"Fumiki Hirahara","orcid":"https://orcid.org/0000-0002-2168-2827","observed_orcids":["https://orcid.org/0000-0002-2168-2827"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":false,"raw_author_name":"Fumiki Hirahara","raw_affiliation_strings":["Department of Obstetrics and Gynecology and Reproductive Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynecology and Reproductive Science, Yokohama City University Graduate School of Medicine, Yokohama, Japan","institution_ids":["https://openalex.org/I89630735"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085467135","display_name":"Naomichi Matsumoto","orcid":"https://orcid.org/0000-0001-9846-6500","observed_orcids":["https://orcid.org/0000-0001-9846-6500"]},"institutions":[{"id":"https://openalex.org/I89630735","display_name":"Yokohama City University","ror":"https://ror.org/0135d1r83","country_code":"JP","type":"education","lineage":["https://openalex.org/I89630735"]}],"countries":["JP"],"is_corresponding":true,"raw_author_name":"Naomichi Matsumoto","raw_affiliation_strings":["Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan","institution_ids":["https://openalex.org/I89630735"]}]}],"institutions":[],"countries_distinct_count":3,"institutions_distinct_count":8,"corresponding_author_ids":["https://openalex.org/A5085467135"],"corresponding_institution_ids":["https://openalex.org/I89630735"],"apc_list":{"value":5490,"currency":"USD","value_usd":5490},"apc_paid":null,"fwci":0.8222,"has_fulltext":true,"cited_by_count":23,"citation_normalized_percentile":{"value":0.7048683,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"56","issue":"2","first_page":"156","last_page":"160"},"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":0.9359999895095825,"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":0.9359999895095825,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.04540000110864639,"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/T10364","display_name":"Reproductive Biology and Fertility","score":0.004399999976158142,"subfield":{"id":"https://openalex.org/subfields/2743","display_name":"Reproductive Medicine"},"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/premature-ovarian-failure","display_name":"premature ovarian failure","score":0.996999979019165},{"id":"https://openalex.org/keywords/translocation-breakpoint-mapping","display_name":"translocation breakpoint mapping","score":0.8130000233650208},{"id":"https://openalex.org/keywords/col4a6","display_name":"COL4A6","score":0.9599999785423279},{"id":"https://openalex.org/keywords/microhomology","display_name":"microhomology","score":0.9240000247955322},{"id":"https://openalex.org/keywords/non-homologous-end-joining","display_name":"non-homologous end joining","score":0.949999988079071}],"concepts":[{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.8054511547088623},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.7271209955215454},{"id":"https://openalex.org/C2777395788","wikidata":"https://www.wikidata.org/wiki/Q647630","display_name":"Premature ovarian failure","level":2,"score":0.6876375675201416},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6419286727905273},{"id":"https://openalex.org/C134925867","wikidata":"https://www.wikidata.org/wiki/Q186380","display_name":"Autosome","level":4,"score":0.550310492515564},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5169321894645691},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.4725586771965027},{"id":"https://openalex.org/C70721500","wikidata":"https://www.wikidata.org/wiki/Q177005","display_name":"Computational biology","level":1,"score":0.34298190474510193},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3302726745605469},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.298105925321579},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.10995438694953918},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.10129943490028381}],"mesh":[{"descriptor_ui":"D001483","descriptor_name":"Base Sequence","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":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012689","descriptor_name":"Sequence Homology, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014178","descriptor_name":"Translocation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D016254","descriptor_name":"Mutagenesis, Insertional","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016649","descriptor_name":"Primary Ovarian Insufficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D041321","descriptor_name":"Chromosomes, Human, X","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D050172","descriptor_name":"Genes, X-Linked","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D056905","descriptor_name":"Chromosome Breakpoints","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1038/jhg.2010.155","doi":"https://doi.org/10.1038/jhg.2010.155","is_oa":false,"landing_page_url":"https://doi.org/10.1038/jhg.2010.155","pdf_url":null,"source":{"id":"https://openalex.org/S31156748","display_name":"Journal of Human Genetics","issn_l":"1434-5161","issn":["1434-5161","1435-232X"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-d","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-2","vabb-shw"],"host_organization":"https://openalex.org/P4310319965","host_organization_name":"Springer Nature","host_organization_lineage":["https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Journal of Human Genetics","raw_type":"journal-article"},{"id":"pmid:21150920","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/21150920","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":"Journal of human genetics","raw_type":"Comparative Study"}],"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":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320320912","display_name":"Ministry of Education, Culture, Sports, Science and Technology","ror":"https://ror.org/048rj2z13"},{"id":"https://openalex.org/F4320321945","display_name":"Ministry of Health, Labour and Welfare","ror":"https://ror.org/03mwa7s65"},{"id":"https://openalex.org/F4320334764","display_name":"Japan Society for the Promotion of Science","ror":"https://ror.org/00hhkn466"},{"id":"https://openalex.org/F4320334789","display_name":"Japan Science and Technology Agency","ror":"https://ror.org/00097mb19"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W113984154","https://openalex.org/W181681831","https://openalex.org/W1488029276","https://openalex.org/W1521876081","https://openalex.org/W1972190638","https://openalex.org/W1972219622","https://openalex.org/W1972456623","https://openalex.org/W1975357451","https://openalex.org/W1986721514","https://openalex.org/W1999209611","https://openalex.org/W2005010939","https://openalex.org/W2015466314","https://openalex.org/W2034148530","https://openalex.org/W2035488976","https://openalex.org/W2068010208","https://openalex.org/W2090408824","https://openalex.org/W2096252197","https://openalex.org/W2103040888","https://openalex.org/W2107781080","https://openalex.org/W2115932490","https://openalex.org/W2148916184","https://openalex.org/W2160919939","https://openalex.org/W2167482501"],"related_works":["https://openalex.org/W2100632340","https://openalex.org/W2138016846","https://openalex.org/W2005010939","https://openalex.org/W2080898126","https://openalex.org/W2103040888","https://openalex.org/W2161236146","https://openalex.org/W1972219622","https://openalex.org/W2165923586","https://openalex.org/W2289339112","https://openalex.org/W1986721514"],"abstract_inverted_index":null,"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":3},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":2},{"year":2013,"cited_by_count":2},{"year":2012,"cited_by_count":4}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2016-06-24T00:00:00"}