{"id":"https://openalex.org/W2015574544","doi":"https://doi.org/10.1016/j.fertnstert.2008.01.030","title":"Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene","display_name":"Sex-reversed phenotype in association with two novel mutations c.2494delA and c.T3004C in the ligand-binding domain of the androgen receptor gene","publication_year":2008,"publication_date":"2008-03-15","ids":{"openalex":"https://openalex.org/W2015574544","doi":"https://doi.org/10.1016/j.fertnstert.2008.01.030","mag":"2015574544","pmid":"https://pubmed.ncbi.nlm.nih.gov/18342859"},"language":"en","primary_location":{"id":"doi:10.1016/j.fertnstert.2008.01.030","doi":"https://doi.org/10.1016/j.fertnstert.2008.01.030","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.fertnstert.2008.01.030","pdf_url":"http://www.fertstert.org/article/S001502820800037X/pdf","source":{"id":"https://openalex.org/S45445671","display_name":"Fertility and Sterility","issn_l":"0015-0282","issn":["0015-0282","1556-5653"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Fertility and Sterility","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"bronze","oa_url":"http://www.fertstert.org/article/S001502820800037X/pdf","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5103542477","display_name":"Angeliki Galani","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]},{"id":"https://openalex.org/I4210120313","display_name":"Children's Hospital Agia Sophia","ror":"https://ror.org/0315ea826","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210120313"]}],"countries":["GR"],"is_corresponding":true,"raw_author_name":"Angeliki Galani","raw_affiliation_strings":["Department of Medical Genetics, Athens University School of Medicine, Aghia Sofia Children's Hospital, Athens, Greece. agalani@med.uoa.gr","Department of Medical Genetics, Athens University School of Medicine, Aghia Sofia Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Athens University School of Medicine, Aghia Sofia Children's Hospital, Athens, Greece. agalani@med.uoa.gr","institution_ids":["https://openalex.org/I4210120313"]},{"raw_affiliation_string":"Department of Medical Genetics, Athens University School of Medicine, Aghia Sofia Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210120313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5038387848","display_name":"Christalena Sofocleous","orcid":"https://orcid.org/0000-0002-3205-4287","observed_orcids":["https://orcid.org/0000-0002-3205-4287"]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]},{"id":"https://openalex.org/I4210120313","display_name":"Children's Hospital Agia Sophia","ror":"https://ror.org/0315ea826","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210120313"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Christalena Sofocleous","raw_affiliation_strings":["Department of Medical Genetics, Athens University School of Medicine, Aghia Sofia Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Athens University School of Medicine, Aghia Sofia Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210120313"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062816755","display_name":"Feneli Karahaliou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210159355","display_name":"Panagiotis & Aglaia Kyriakou Children's Hospital","ror":"https://ror.org/052arry73","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210159355"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Feneli Karahaliou","raw_affiliation_strings":["Department of Growth and Development, P. and A. Kyriakou Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Growth and Development, P. and A. Kyriakou Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I4210159355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5103520590","display_name":"Ast\u00e9roula Papathanasiou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210159355","display_name":"Panagiotis & Aglaia Kyriakou Children's Hospital","ror":"https://ror.org/052arry73","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210159355"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Asteroula Papathanasiou","raw_affiliation_strings":["Department of Endocrinology, P. and A. Kyriakou Children's Hospital, Athens, Greece","Department of Endocrinology, \u201cP. & A. Kyriakou\u201d Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Endocrinology, P. and A. Kyriakou Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I4210159355"]},{"raw_affiliation_string":"Department of Endocrinology, \u201cP. & A. Kyriakou\u201d Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I4210159355"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110013482","display_name":"Sofia Kitsiou\u2010Tzeli","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]},{"id":"https://openalex.org/I4210120313","display_name":"Children's Hospital Agia Sophia","ror":"https://ror.org/0315ea826","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210120313"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Sofia Kitsiou-Tzeli","raw_affiliation_strings":["Department of Medical Genetics, Athens University School of Medicine, Aghia Sofia Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Athens University School of Medicine, Aghia Sofia Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210120313"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5007701220","display_name":"Ariadni Kalpini-Mavrou","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200777214","display_name":"National and Kapodistrian University of Athens","ror":"https://ror.org/04gnjpq42","country_code":"GR","type":"education","lineage":["https://openalex.org/I200777214"]},{"id":"https://openalex.org/I4210120313","display_name":"Children's Hospital Agia Sophia","ror":"https://ror.org/0315ea826","country_code":"GR","type":"healthcare","lineage":["https://openalex.org/I4210120313"]}],"countries":["GR"],"is_corresponding":false,"raw_author_name":"Ariadni Kalpini-Mavrou","raw_affiliation_strings":["Department of Medical Genetics, Athens University School of Medicine, Aghia Sofia Children's Hospital, Athens, Greece"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Medical Genetics, Athens University School of Medicine, Aghia Sofia Children's Hospital, Athens, Greece","institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210120313"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5103542477"],"corresponding_institution_ids":["https://openalex.org/I200777214","https://openalex.org/I4210120313"],"apc_list":{"value":4220,"currency":"USD","value_usd":4220},"apc_paid":null,"fwci":0.7836,"has_fulltext":true,"cited_by_count":14,"citation_normalized_percentile":{"value":0.75091984,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"90","issue":"5","first_page":"2008.e1","last_page":"2008.e4"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11956","display_name":"Sexual Differentiation and Disorders","score":0.9984999895095825,"subfield":{"id":"https://openalex.org/subfields/2712","display_name":"Endocrinology, Diabetes and Metabolism"},"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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.00139999995008111,"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/T10390","display_name":"Ovarian function and disorders","score":9.999999747378752e-05,"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/complete-androgen-insensitivity-syndrome","display_name":"complete androgen insensitivity syndrome","score":0.9509999752044678},{"id":"https://openalex.org/keywords/androgen-receptor","display_name":"androgen receptor","score":0.8450000286102295},{"id":"https://openalex.org/keywords/ligand-binding-domain","display_name":"ligand-binding domain","score":0.8610000014305115},{"id":"https://openalex.org/keywords/frameshift-mutation","display_name":"frameshift mutation","score":0.8420000076293945},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.9929999709129333},{"id":"https://openalex.org/keywords/46-xy-sex-reversal","display_name":"46,XY sex reversal","score":0.9670000076293945},{"id":"https://openalex.org/keywords/mullerian-remnants","display_name":"M\u00fcllerian remnants","score":0.9739999771118164},{"id":"https://openalex.org/keywords/familial-mutation","display_name":"familial mutation","score":0.6330000162124634},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.8740000128746033},{"id":"https://openalex.org/keywords/cancer-prevention","display_name":"cancer prevention","score":0.7020000219345093},{"id":"https://openalex.org/keywords/hormone-replacement-therapy","display_name":"hormone replacement therapy","score":0.8309999704360962}],"concepts":[{"id":"https://openalex.org/C61367390","wikidata":"https://www.wikidata.org/wiki/Q416601","display_name":"Androgen receptor","level":4,"score":0.7144938111305237},{"id":"https://openalex.org/C2777768709","wikidata":"https://www.wikidata.org/wiki/Q473262","display_name":"Complete androgen insensitivity syndrome","level":5,"score":0.682624101638794},{"id":"https://openalex.org/C80227256","wikidata":"https://www.wikidata.org/wiki/Q1124169","display_name":"Genetic counseling","level":2,"score":0.6215574741363525},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6153973340988159},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5452497601509094},{"id":"https://openalex.org/C29906990","wikidata":"https://www.wikidata.org/wiki/Q1440688","display_name":"Frameshift mutation","level":4,"score":0.4988420009613037},{"id":"https://openalex.org/C2778952551","wikidata":"https://www.wikidata.org/wiki/Q512313","display_name":"Androgen insensitivity syndrome","level":5,"score":0.4870045781135559},{"id":"https://openalex.org/C2777911890","wikidata":"https://www.wikidata.org/wiki/Q62614","display_name":"Androgen","level":3,"score":0.4457463026046753},{"id":"https://openalex.org/C64474127","wikidata":"https://www.wikidata.org/wiki/Q1071953","display_name":"Medical genetics","level":3,"score":0.43915510177612305},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.4112909734249115},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.37435147166252136},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.3535724878311157},{"id":"https://openalex.org/C29456083","wikidata":"https://www.wikidata.org/wiki/Q1221899","display_name":"Gynecology","level":1,"score":0.34703949093818665},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.34321489930152893},{"id":"https://openalex.org/C71315377","wikidata":"https://www.wikidata.org/wiki/Q11364","display_name":"Hormone","level":2,"score":0.2942361533641815},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.26543116569519043},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.20389196276664734},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.1779390573501587},{"id":"https://openalex.org/C2780192828","wikidata":"https://www.wikidata.org/wiki/Q181257","display_name":"Prostate cancer","level":3,"score":0.13652023673057556}],"mesh":[{"descriptor_ui":"D000293","descriptor_name":"Adolescent","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000568","descriptor_name":"Amenorrhea","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D005838","descriptor_name":"Genotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006061","descriptor_name":"Gonadal Dysgenesis, 46,XY","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006061","descriptor_name":"Gonadal Dysgenesis, 46,XY","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006061","descriptor_name":"Gonadal Dysgenesis, 46,XY","qualifier_ui":"Q000601","qualifier_name":"surgery","is_major_topic":false},{"descriptor_ui":"D006552","descriptor_name":"Hernia, Inguinal","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009095","descriptor_name":"Mullerian Ducts","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011944","descriptor_name":"Receptors, Androgen","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D013734","descriptor_name":"Androgen-Insensitivity Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D013734","descriptor_name":"Androgen-Insensitivity Syndrome","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D013734","descriptor_name":"Androgen-Insensitivity Syndrome","qualifier_ui":"Q000601","qualifier_name":"surgery","is_major_topic":false},{"descriptor_ui":"D016368","descriptor_name":"Frameshift Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D020125","descriptor_name":"Mutation, Missense","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1016/j.fertnstert.2008.01.030","doi":"https://doi.org/10.1016/j.fertnstert.2008.01.030","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.fertnstert.2008.01.030","pdf_url":"http://www.fertstert.org/article/S001502820800037X/pdf","source":{"id":"https://openalex.org/S45445671","display_name":"Fertility and Sterility","issn_l":"0015-0282","issn":["0015-0282","1556-5653"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Fertility and Sterility","raw_type":"journal-article"},{"id":"pmid:18342859","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/18342859","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":"Fertility and sterility","raw_type":"Case Reports"}],"best_oa_location":{"id":"doi:10.1016/j.fertnstert.2008.01.030","doi":"https://doi.org/10.1016/j.fertnstert.2008.01.030","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.fertnstert.2008.01.030","pdf_url":"http://www.fertstert.org/article/S001502820800037X/pdf","source":{"id":"https://openalex.org/S45445671","display_name":"Fertility and Sterility","issn_l":"0015-0282","issn":["0015-0282","1556-5653"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Fertility and Sterility","raw_type":"journal-article"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9476000070571899}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320338080","display_name":"European Social Fund","ror":"https://ror.org/00k4n6c32"}],"has_content":{"grobid_xml":true,"pdf":true},"content_urls":{"pdf":"https://content.openalex.org/works/W2015574544.pdf","grobid_xml":"https://content.openalex.org/works/W2015574544.grobid-xml"},"referenced_works_count":22,"referenced_works":["https://openalex.org/W1529983368","https://openalex.org/W1992739213","https://openalex.org/W2015498193","https://openalex.org/W2016845185","https://openalex.org/W2029598464","https://openalex.org/W2034750466","https://openalex.org/W2043794137","https://openalex.org/W2046607814","https://openalex.org/W2050602600","https://openalex.org/W2077187210","https://openalex.org/W2112219216","https://openalex.org/W2121204459","https://openalex.org/W2144908726","https://openalex.org/W2156300806","https://openalex.org/W2158714788","https://openalex.org/W2169878619","https://openalex.org/W2288142175","https://openalex.org/W2412528685","https://openalex.org/W3007331336","https://openalex.org/W6683088408","https://openalex.org/W6696317291","https://openalex.org/W6812900137"],"related_works":["https://openalex.org/W2322489557","https://openalex.org/W2084233574","https://openalex.org/W2043794137","https://openalex.org/W2033534249","https://openalex.org/W2034750466","https://openalex.org/W2107539666","https://openalex.org/W1978886910","https://openalex.org/W2753874246","https://openalex.org/W2069117047","https://openalex.org/W2622261791"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":4},{"year":2019,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2013,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
