{"id":"https://openalex.org/W2294528688","doi":"https://doi.org/10.1111/cge.12750","title":"NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency","display_name":"NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency","publication_year":2016,"publication_date":"2016-02-05","ids":{"openalex":"https://openalex.org/W2294528688","doi":"https://doi.org/10.1111/cge.12750","mag":"2294528688","pmid":"https://pubmed.ncbi.nlm.nih.gov/26848058"},"language":"en","primary_location":{"id":"doi:10.1111/cge.12750","doi":"https://doi.org/10.1111/cge.12750","is_oa":false,"landing_page_url":"https://doi.org/10.1111/cge.12750","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","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":"Clinical 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/A5002699247","display_name":"Nouha Bouali","orcid":"https://orcid.org/0000-0003-1890-6233","observed_orcids":["https://orcid.org/0000-0003-1890-6233"]},"institutions":[{"id":"https://openalex.org/I4210087936","display_name":"H\u00f4pital Farhat Hached","ror":"https://ror.org/0059hys23","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210087936"]}],"countries":["TN"],"is_corresponding":true,"raw_author_name":"N. Bouali","raw_affiliation_strings":["Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000 Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000 Tunisia","institution_ids":["https://openalex.org/I4210087936"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073718259","display_name":"Bruno Francou","orcid":"https://orcid.org/0000-0002-3903-2320","observed_orcids":["https://orcid.org/0000-0002-3903-2320"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["https://openalex.org/I277688954"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"B. Francou","raw_affiliation_strings":["Assistance Publique\u2010H\u00f4pitaux de Paris, H\u00f4pital Bic\u00eatre, Service de G\u00e9n\u00e9tique mol\u00e9culaire Pharmacog\u00e9n\u00e9tique et Hormonologie  Le Kremlin\u2010Bic\u00eatre France","Facult\u00e9 de M\u00e9decine Paris Sud INSERM UMR_S1185, University Paris Saclay, Univ Paris sud  Le Kremlin\u2010Bic\u00eatre France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique\u2010H\u00f4pitaux de Paris, H\u00f4pital Bic\u00eatre, Service de G\u00e9n\u00e9tique mol\u00e9culaire Pharmacog\u00e9n\u00e9tique et Hormonologie  Le Kremlin\u2010Bic\u00eatre France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210162942"]},{"raw_affiliation_string":"Facult\u00e9 de M\u00e9decine Paris Sud INSERM UMR_S1185, University Paris Saclay, Univ Paris sud  Le Kremlin\u2010Bic\u00eatre France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I277688954"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047403231","display_name":"J\u00e9r\u00f4me Bouligand","orcid":"https://orcid.org/0000-0002-8691-9469","observed_orcids":["https://orcid.org/0000-0002-8691-9469"]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["https://openalex.org/I277688954"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J. Bouligand","raw_affiliation_strings":["Assistance Publique\u2010H\u00f4pitaux de Paris, H\u00f4pital Bic\u00eatre, Service de G\u00e9n\u00e9tique mol\u00e9culaire Pharmacog\u00e9n\u00e9tique et Hormonologie  Le Kremlin\u2010Bic\u00eatre France","Facult\u00e9 de M\u00e9decine Paris Sud INSERM UMR_S1185, University Paris Saclay, Univ Paris sud  Le Kremlin\u2010Bic\u00eatre France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique\u2010H\u00f4pitaux de Paris, H\u00f4pital Bic\u00eatre, Service de G\u00e9n\u00e9tique mol\u00e9culaire Pharmacog\u00e9n\u00e9tique et Hormonologie  Le Kremlin\u2010Bic\u00eatre France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210162942"]},{"raw_affiliation_string":"Facult\u00e9 de M\u00e9decine Paris Sud INSERM UMR_S1185, University Paris Saclay, Univ Paris sud  Le Kremlin\u2010Bic\u00eatre France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I277688954"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5052022841","display_name":"Besma Lakhal","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210087936","display_name":"H\u00f4pital Farhat Hached","ror":"https://ror.org/0059hys23","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210087936"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"B. Lakhal","raw_affiliation_strings":["Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000 Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000 Tunisia","institution_ids":["https://openalex.org/I4210087936"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5043929160","display_name":"I. Malek","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210087936","display_name":"H\u00f4pital Farhat Hached","ror":"https://ror.org/0059hys23","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210087936"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"I. Malek","raw_affiliation_strings":["Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000 Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000 Tunisia","institution_ids":["https://openalex.org/I4210087936"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5067391413","display_name":"Molka Kammoun","orcid":"https://orcid.org/0000-0001-7488-0694","observed_orcids":["https://orcid.org/0000-0001-7488-0694"]},"institutions":[{"id":"https://openalex.org/I4210087936","display_name":"H\u00f4pital Farhat Hached","ror":"https://ror.org/0059hys23","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210087936"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"M. Kammoun","raw_affiliation_strings":["Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000 Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000 Tunisia","institution_ids":["https://openalex.org/I4210087936"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075282656","display_name":"Josiane Warszawski","orcid":"https://orcid.org/0000-0001-8590-7952","observed_orcids":["https://orcid.org/0000-0001-8590-7952"]},"institutions":[{"id":"https://openalex.org/I102197404","display_name":"Universit\u00e9 Paris-Sud","ror":"https://ror.org/028rypz17","country_code":"FR","type":"education","lineage":["https://openalex.org/I102197404","https://openalex.org/I277688954"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"J. Warszawski","raw_affiliation_strings":["Assistance Publique\u2010H\u00f4pitaux de Paris, H\u00f4pital Bic\u00eatre, Service d'Epid\u00e9miologie University Paris Saclay, University Paris\u2010Sud, INSERM U1018 eq 4  Le Kremlin\u2010Bic\u00eatre France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique\u2010H\u00f4pitaux de Paris, H\u00f4pital Bic\u00eatre, Service d'Epid\u00e9miologie University Paris Saclay, University Paris\u2010Sud, INSERM U1018 eq 4  Le Kremlin\u2010Bic\u00eatre France","institution_ids":["https://openalex.org/I102197404","https://openalex.org/I154526488","https://openalex.org/I4210097159","https://openalex.org/I4210162942"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5001557130","display_name":"Soumaya Mougou-Zerelli","orcid":"https://orcid.org/0000-0003-3172-1313","observed_orcids":["https://orcid.org/0000-0003-3172-1313"]},"institutions":[{"id":"https://openalex.org/I4210087936","display_name":"H\u00f4pital Farhat Hached","ror":"https://ror.org/0059hys23","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210087936"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"S. Mougou","raw_affiliation_strings":["Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000 Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000 Tunisia","institution_ids":["https://openalex.org/I4210087936"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102239982","display_name":"A. Saad","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210087936","display_name":"H\u00f4pital Farhat Hached","ror":"https://ror.org/0059hys23","country_code":"TN","type":"healthcare","lineage":["https://openalex.org/I4210087936"]}],"countries":["TN"],"is_corresponding":false,"raw_author_name":"A. Saad","raw_affiliation_strings":["Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000 Tunisia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Laboratory of Human Cytogenetics, Molecular Genetics and Reproductive Biology, Farhat Hached University Hospital, Sousse, 4000 Tunisia","institution_ids":["https://openalex.org/I4210087936"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113532957","display_name":"Anne Guiochon\u2010Mantel","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I277688954","display_name":"Universit\u00e9 Paris-Saclay","ror":"https://ror.org/03xjwb503","country_code":"FR","type":"education","lineage":["https://openalex.org/I277688954"]},{"id":"https://openalex.org/I4210097159","display_name":"Assistance Publique \u2013 H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159"]},{"id":"https://openalex.org/I4210162942","display_name":"Bic\u00eatre Hospital","ror":"https://ror.org/05c9p1x46","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210097159","https://openalex.org/I4210162942","https://openalex.org/I4405259118"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"A. Guiochon\u2010Mantel","raw_affiliation_strings":["Assistance Publique\u2010H\u00f4pitaux de Paris, H\u00f4pital Bic\u00eatre, Service de G\u00e9n\u00e9tique mol\u00e9culaire Pharmacog\u00e9n\u00e9tique et Hormonologie  Le Kremlin\u2010Bic\u00eatre France","Facult\u00e9 de M\u00e9decine Paris Sud INSERM UMR_S1185, University Paris Saclay, Univ Paris sud  Le Kremlin\u2010Bic\u00eatre France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Assistance Publique\u2010H\u00f4pitaux de Paris, H\u00f4pital Bic\u00eatre, Service de G\u00e9n\u00e9tique mol\u00e9culaire Pharmacog\u00e9n\u00e9tique et Hormonologie  Le Kremlin\u2010Bic\u00eatre France","institution_ids":["https://openalex.org/I4210097159","https://openalex.org/I4210162942"]},{"raw_affiliation_string":"Facult\u00e9 de M\u00e9decine Paris Sud INSERM UMR_S1185, University Paris Saclay, Univ Paris sud  Le Kremlin\u2010Bic\u00eatre France","institution_ids":["https://openalex.org/I154526488","https://openalex.org/I277688954"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5002699247"],"corresponding_institution_ids":["https://openalex.org/I4210087936"],"apc_list":{"value":4980,"currency":"USD","value_usd":4980},"apc_paid":null,"fwci":3.89,"has_fulltext":false,"cited_by_count":24,"citation_normalized_percentile":{"value":0.92560284,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":88,"max":99},"biblio":{"volume":"89","issue":"5","first_page":"608","last_page":"613"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10390","display_name":"Ovarian function and disorders","score":0.5810999870300293,"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"}},"topics":[{"id":"https://openalex.org/T10390","display_name":"Ovarian function and disorders","score":0.5810999870300293,"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"}},{"id":"https://openalex.org/T10364","display_name":"Reproductive Biology and Fertility","score":0.3628000020980835,"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"}},{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.032499998807907104,"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/premature-ovarian-insufficiency","display_name":"premature ovarian insufficiency","score":0.9480000138282776},{"id":"https://openalex.org/keywords/bmp15","display_name":"BMP15","score":0.9150000214576721},{"id":"https://openalex.org/keywords/gdf9","display_name":"GDF9","score":1.0},{"id":"https://openalex.org/keywords/missense-mutations","display_name":"missense mutations","score":0.6890000104904175},{"id":"https://openalex.org/keywords/genetic-variants","display_name":"genetic variants","score":0.4749999940395355},{"id":"https://openalex.org/keywords/mutation-prevalence","display_name":"mutation prevalence","score":0.6629999876022339},{"id":"https://openalex.org/keywords/tunisian-patients","display_name":"Tunisian patients","score":0.6880000233650208},{"id":"https://openalex.org/keywords/fertility","display_name":"fertility","score":0.30399999022483826}],"concepts":[{"id":"https://openalex.org/C2911206770","wikidata":"https://www.wikidata.org/wiki/Q647630","display_name":"Premature ovarian insufficiency","level":2,"score":0.7170238494873047},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7101835012435913},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.666735827922821},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.6041129231452942},{"id":"https://openalex.org/C2779343474","wikidata":"https://www.wikidata.org/wiki/Q3109175","display_name":"Context (archaeology)","level":2,"score":0.5825879573822021},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5411388874053955},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5327401757240295},{"id":"https://openalex.org/C69991583","wikidata":"https://www.wikidata.org/wiki/Q1423575","display_name":"Candidate gene","level":3,"score":0.5314095616340637},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.4803403615951538},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.4328601658344269},{"id":"https://openalex.org/C153471976","wikidata":"https://www.wikidata.org/wiki/Q2873354","display_name":"Heterozygote advantage","level":4,"score":0.42407190799713135},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.2738679051399231},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.2512511909008026},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.2071550488471985},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.056280821561813354},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D000483","descriptor_name":"Alleles","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004252","descriptor_name":"DNA Mutational Analysis","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":"D005787","descriptor_name":"Gene Frequency","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":"Q000706","qualifier_name":"statistics & numerical data","is_major_topic":false},{"descriptor_ui":"D005838","descriptor_name":"Genotype","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":"D014157","descriptor_name":"Transcription Factors","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D014416","descriptor_name":"Tunisia","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D015995","descriptor_name":"Prevalence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016649","descriptor_name":"Primary Ovarian Insufficiency","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D016649","descriptor_name":"Primary Ovarian Insufficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016649","descriptor_name":"Primary Ovarian Insufficiency","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D018398","descriptor_name":"Homeodomain Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D020022","descriptor_name":"Genetic Predisposition to Disease","qualifier_ui":"Q000235","qualifier_name":"genetics","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:10.1111/cge.12750","doi":"https://doi.org/10.1111/cge.12750","is_oa":false,"landing_page_url":"https://doi.org/10.1111/cge.12750","pdf_url":null,"source":{"id":"https://openalex.org/S4954800","display_name":"Clinical Genetics","issn_l":"0009-9163","issn":["0009-9163","1399-0004"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-100","russia-white-list-1","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":"Clinical Genetics","raw_type":"journal-article"},{"id":"pmid:26848058","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/26848058","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":"Clinical genetics","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.9537000060081482,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320321424","display_name":"Minist\u00e8re de l'Enseignement Sup\u00e9rieur et de la Recherche Scientifique","ror":"https://ror.org/01ejfgc23"},{"id":"https://openalex.org/F4320321445","display_name":"Assistance Publique - H\u00f4pitaux de Paris","ror":"https://ror.org/00pg5jh14"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":20,"referenced_works":["https://openalex.org/W181681831","https://openalex.org/W1908595453","https://openalex.org/W1913232349","https://openalex.org/W1977932419","https://openalex.org/W1991109392","https://openalex.org/W2009139889","https://openalex.org/W2009767930","https://openalex.org/W2030599838","https://openalex.org/W2053529229","https://openalex.org/W2057336811","https://openalex.org/W2060085250","https://openalex.org/W2077243848","https://openalex.org/W2084241850","https://openalex.org/W2111985781","https://openalex.org/W2129868058","https://openalex.org/W2139197811","https://openalex.org/W2159707008","https://openalex.org/W2184296160","https://openalex.org/W2336516321","https://openalex.org/W2765871900"],"related_works":["https://openalex.org/W2060085250","https://openalex.org/W2009767930","https://openalex.org/W4388298163","https://openalex.org/W2532705550","https://openalex.org/W3197911434","https://openalex.org/W4416856515","https://openalex.org/W4411532777","https://openalex.org/W4220892385","https://openalex.org/W2549549164","https://openalex.org/W4220719862"],"abstract_inverted_index":{"Premature":[0],"ovarian":[1],"insufficiency":[2],"(POI)":[3],"affects":[4],"approximately":[5],"1%":[6],"of":[7,12,20,37,45,59,89,106,119,132],"women":[8,83],"before":[9],"the":[10,43,104,114,120,130],"age":[11],"40.":[13],"Genetic":[14],"contribution":[15],"is":[16,109],"a":[17,79,123],"significant":[18],"component":[19],"POI.":[21,56,140],"In":[22,99],"this":[23,126],"context,":[24],"heterozygous":[25],"mutations":[26,48,65,74],"in":[27,49,70,78,113],"NOBOX,":[28],"BMP15":[29,90,107],"and":[30,68,91],"GDF9":[31,92],"have":[32],"been":[33],"reported.":[34],"The":[35,57,87],"objective":[36],"our":[38],"study":[39],"was":[40],"to":[41,101],"evaluate":[42],"prevalence":[44,105,128],"these":[46],"genes":[47],"125":[50],"unrelated":[51],"Tunisian":[52],"patients":[53],"diagnosed":[54],"with":[55],"screening":[58],"NOBOX":[60,124,133],"gene":[61,93,134],"revealed":[62,94],"three":[63],"missense":[64],"(p.Arg117Trp;":[66],"p.Gly91Trp":[67],"p.Pro619Leu)":[69],"eight":[71],"patients.":[72],"These":[73],"were":[75],"not":[76,110],"found":[77],"200":[80],"ethnically":[81],"matched":[82],"without":[84],"fertility":[85],"problem.":[86],"sequencing":[88],"only":[95],"previously":[96],"reported":[97],"variants.":[98],"contrast":[100],"previous":[102],"studies,":[103],"variations":[108],"higher":[111],"than":[112],"control":[115],"population.":[116],"Conversely,":[117],"6.4%":[118],"cases":[121],"present":[122],"mutations;":[125],"high":[127],"strengthens":[129],"consideration":[131],"as":[135],"strong":[136],"autosomal":[137],"candidate":[138],"for":[139]},"counts_by_year":[{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":2},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":1},{"year":2021,"cited_by_count":2},{"year":2019,"cited_by_count":2},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":7}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}