{"id":"https://openalex.org/W2108053705","doi":"https://doi.org/10.1089/105072502320908277","title":"Genetics of Specific Phenotypes of Congenital Hypothyroidism: A Population-Based Approach","display_name":"Genetics of Specific Phenotypes of Congenital Hypothyroidism: A Population-Based Approach","publication_year":2002,"publication_date":"2002-11-01","ids":{"openalex":"https://openalex.org/W2108053705","doi":"https://doi.org/10.1089/105072502320908277","mag":"2108053705","pmid":"https://pubmed.ncbi.nlm.nih.gov/12490071"},"language":"en","primary_location":{"id":"doi:10.1089/105072502320908277","doi":"https://doi.org/10.1089/105072502320908277","is_oa":false,"landing_page_url":"https://doi.org/10.1089/105072502320908277","pdf_url":null,"source":{"id":"https://openalex.org/S27569427","display_name":"Thyroid","issn_l":"1050-7256","issn":["1050-7256","1557-9077"],"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-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Thyroid","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/A5063316357","display_name":"Francesca Calaciura","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I39063666","display_name":"University of Catania","ror":"https://ror.org/03a64bh57","country_code":"IT","type":"education","lineage":["https://openalex.org/I39063666"]},{"id":"https://openalex.org/I4210105999","display_name":"Ospedale Garibaldi","ror":"https://ror.org/01q6hrg49","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210105999"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Francesca Calaciura","raw_affiliation_strings":["Istituto di Medicina Interna, Malattie Endocrine e del Metabolismo dell'Universit\u00e0 di Catania, Ospedale Garibaldi, Catania, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Medicina Interna, Malattie Endocrine e del Metabolismo dell'Universit\u00e0 di Catania, Ospedale Garibaldi, Catania, Italy","institution_ids":["https://openalex.org/I39063666","https://openalex.org/I4210105999"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029652242","display_name":"Giueppe Miscio","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800188116","display_name":"Casa Sollievo della Sofferenza","ror":"https://ror.org/00md77g41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2800188116","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Giueppe Miscio","raw_affiliation_strings":["Unit\u00e0 di Endocrinologia, Istituto Scientifico Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e0 di Endocrinologia, Istituto Scientifico Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy","institution_ids":["https://openalex.org/I2800188116"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108223170","display_name":"Angelo Coco","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800188116","display_name":"Casa Sollievo della Sofferenza","ror":"https://ror.org/00md77g41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2800188116","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Angelo Coco","raw_affiliation_strings":["Unit\u00e0 di Endocrinologia, Istituto Scientifico Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e0 di Endocrinologia, Istituto Scientifico Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy","institution_ids":["https://openalex.org/I2800188116"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069322860","display_name":"Daniela Leonardi","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I39063666","display_name":"University of Catania","ror":"https://ror.org/03a64bh57","country_code":"IT","type":"education","lineage":["https://openalex.org/I39063666"]},{"id":"https://openalex.org/I4210105999","display_name":"Ospedale Garibaldi","ror":"https://ror.org/01q6hrg49","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210105999"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Daniela Leonardi","raw_affiliation_strings":["Istituto di Medicina Interna, Malattie Endocrine e del Metabolismo dell'Universit\u00e0 di Catania, Ospedale Garibaldi, Catania, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Medicina Interna, Malattie Endocrine e del Metabolismo dell'Universit\u00e0 di Catania, Ospedale Garibaldi, Catania, Italy","institution_ids":["https://openalex.org/I39063666","https://openalex.org/I4210105999"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072647204","display_name":"Carmela Cisternino","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800188116","display_name":"Casa Sollievo della Sofferenza","ror":"https://ror.org/00md77g41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2800188116","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Carmela Cisternino","raw_affiliation_strings":["Unit\u00e0 di Endocrinologia, Istituto Scientifico Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e0 di Endocrinologia, Istituto Scientifico Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy","institution_ids":["https://openalex.org/I2800188116"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5060706415","display_name":"Concetto Regalbuto","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I39063666","display_name":"University of Catania","ror":"https://ror.org/03a64bh57","country_code":"IT","type":"education","lineage":["https://openalex.org/I39063666"]},{"id":"https://openalex.org/I4210105999","display_name":"Ospedale Garibaldi","ror":"https://ror.org/01q6hrg49","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210105999"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Concetto Regalbuto","raw_affiliation_strings":["Istituto di Medicina Interna, Malattie Endocrine e del Metabolismo dell'Universit\u00e0 di Catania, Ospedale Garibaldi, Catania, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Medicina Interna, Malattie Endocrine e del Metabolismo dell'Universit\u00e0 di Catania, Ospedale Garibaldi, Catania, Italy","institution_ids":["https://openalex.org/I39063666","https://openalex.org/I4210105999"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003976713","display_name":"Maura Bozzali","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I189158943","display_name":"University of Milan","ror":"https://ror.org/00wjc7c48","country_code":"IT","type":"education","lineage":["https://openalex.org/I189158943"]},{"id":"https://openalex.org/I2800188116","display_name":"Casa Sollievo della Sofferenza","ror":"https://ror.org/00md77g41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2800188116","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Maura Bozzali","raw_affiliation_strings":["Unit\u00e0 di Endocrinologia, Istituto Scientifico Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Istituto di Malattie Neurologiche, Universit\u00e0          di Milano, Ospedale Policlinico, Milano, Italy","University of Milan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e0 di Endocrinologia, Istituto Scientifico Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy; Istituto di Malattie Neurologiche, Universit\u00e0          di Milano, Ospedale Policlinico, Milano, Italy","institution_ids":["https://openalex.org/I189158943","https://openalex.org/I2800188116"]},{"raw_affiliation_string":"University of Milan","institution_ids":["https://openalex.org/I189158943"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5063224245","display_name":"Raffaella Maiorana","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I39063666","display_name":"University of Catania","ror":"https://ror.org/03a64bh57","country_code":"IT","type":"education","lineage":["https://openalex.org/I39063666"]},{"id":"https://openalex.org/I4210105999","display_name":"Ospedale Garibaldi","ror":"https://ror.org/01q6hrg49","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210105999"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Raffaella Maiorana","raw_affiliation_strings":["Istituto di Medicina Interna, Malattie Endocrine e del Metabolismo dell'Universit\u00e0 di Catania, Ospedale Garibaldi, Catania, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Medicina Interna, Malattie Endocrine e del Metabolismo dell'Universit\u00e0 di Catania, Ospedale Garibaldi, Catania, Italy","institution_ids":["https://openalex.org/I39063666","https://openalex.org/I4210105999"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5102146368","display_name":"Annalisa Ranieri","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800188116","display_name":"Casa Sollievo della Sofferenza","ror":"https://ror.org/00md77g41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2800188116","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Annalisa Ranieri","raw_affiliation_strings":["Unit\u00e0 di Endocrinologia, Istituto Scientifico Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e0 di Endocrinologia, Istituto Scientifico Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy","institution_ids":["https://openalex.org/I2800188116"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5066527971","display_name":"Anna Carta","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I39063666","display_name":"University of Catania","ror":"https://ror.org/03a64bh57","country_code":"IT","type":"education","lineage":["https://openalex.org/I39063666"]},{"id":"https://openalex.org/I4210105999","display_name":"Ospedale Garibaldi","ror":"https://ror.org/01q6hrg49","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210105999"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Anna Carta","raw_affiliation_strings":["Istituto di Medicina Interna, Malattie Endocrine e del Metabolismo dell'Universit\u00e0 di Catania, Ospedale Garibaldi, Catania, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Medicina Interna, Malattie Endocrine e del Metabolismo dell'Universit\u00e0 di Catania, Ospedale Garibaldi, Catania, Italy","institution_ids":["https://openalex.org/I39063666","https://openalex.org/I4210105999"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021545379","display_name":"Massimo Buscema","orcid":"https://orcid.org/0000-0003-4356-0510","observed_orcids":["https://orcid.org/0000-0003-4356-0510"]},"institutions":[{"id":"https://openalex.org/I39063666","display_name":"University of Catania","ror":"https://ror.org/03a64bh57","country_code":"IT","type":"education","lineage":["https://openalex.org/I39063666"]},{"id":"https://openalex.org/I4210105999","display_name":"Ospedale Garibaldi","ror":"https://ror.org/01q6hrg49","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210105999"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Massimo Buscema","raw_affiliation_strings":["Istituto di Medicina Interna, Malattie Endocrine e del Metabolismo dell'Universit\u00e0 di Catania, Ospedale Garibaldi, Catania, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Medicina Interna, Malattie Endocrine e del Metabolismo dell'Universit\u00e0 di Catania, Ospedale Garibaldi, Catania, Italy","institution_ids":["https://openalex.org/I39063666","https://openalex.org/I4210105999"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032911596","display_name":"Vincenzo Trischitta","orcid":"https://orcid.org/0000-0003-1174-127X","observed_orcids":["https://orcid.org/0000-0003-1174-127X"]},"institutions":[{"id":"https://openalex.org/I2800188116","display_name":"Casa Sollievo della Sofferenza","ror":"https://ror.org/00md77g41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2800188116","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Vincenzo Trischitta","raw_affiliation_strings":["Unit\u00e0 di Endocrinologia, Istituto Scientifico Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e0 di Endocrinologia, Istituto Scientifico Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy","institution_ids":["https://openalex.org/I2800188116"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5081038922","display_name":"Lidia Sava","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I39063666","display_name":"University of Catania","ror":"https://ror.org/03a64bh57","country_code":"IT","type":"education","lineage":["https://openalex.org/I39063666"]},{"id":"https://openalex.org/I4210105999","display_name":"Ospedale Garibaldi","ror":"https://ror.org/01q6hrg49","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I4210105999"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Lidia Sava","raw_affiliation_strings":["Istituto di Medicina Interna, Malattie Endocrine e del Metabolismo dell'Universit\u00e0 di Catania, Ospedale Garibaldi, Catania, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Istituto di Medicina Interna, Malattie Endocrine e del Metabolismo dell'Universit\u00e0 di Catania, Ospedale Garibaldi, Catania, Italy","institution_ids":["https://openalex.org/I39063666","https://openalex.org/I4210105999"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5046090666","display_name":"Vittorio Tassi","orcid":"https://orcid.org/0000-0003-3536-4480","observed_orcids":["https://orcid.org/0000-0003-3536-4480"]},"institutions":[{"id":"https://openalex.org/I2800188116","display_name":"Casa Sollievo della Sofferenza","ror":"https://ror.org/00md77g41","country_code":"IT","type":"healthcare","lineage":["https://openalex.org/I2800188116","https://openalex.org/I4210153126"]}],"countries":["IT"],"is_corresponding":false,"raw_author_name":"Vittorio Tassi","raw_affiliation_strings":["Unit\u00e0 di Endocrinologia, Istituto Scientifico Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Unit\u00e0 di Endocrinologia, Istituto Scientifico Ospedale Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy","institution_ids":["https://openalex.org/I2800188116"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":1.2524,"has_fulltext":false,"cited_by_count":29,"citation_normalized_percentile":{"value":0.81561634,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":87,"max":97},"biblio":{"volume":"12","issue":"11","first_page":"945","last_page":"951"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10293","display_name":"Thyroid Disorders and Treatments","score":0.9911999702453613,"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/T10293","display_name":"Thyroid Disorders and Treatments","score":0.9911999702453613,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.001500000013038516,"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/T12631","display_name":"Head and Neck Anomalies","score":0.001500000013038516,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/congenital-hypothyroidism","display_name":"congenital hypothyroidism","score":1.0},{"id":"https://openalex.org/keywords/tpo-gene","display_name":"TPO gene","score":0.6980000138282776},{"id":"https://openalex.org/keywords/goiter","display_name":"goiter","score":0.7350000143051147},{"id":"https://openalex.org/keywords/thyroid-hypoplasia","display_name":"thyroid hypoplasia","score":0.8259999752044678},{"id":"https://openalex.org/keywords/tsh-receptor","display_name":"TSH receptor","score":0.722000002861023},{"id":"https://openalex.org/keywords/tshr-gene","display_name":"TSHR gene","score":0.7919999957084656},{"id":"https://openalex.org/keywords/pax8","display_name":"PAX8","score":0.7789999842643738},{"id":"https://openalex.org/keywords/compound-heterozygosity","display_name":"compound heterozygosity","score":0.8730000257492065},{"id":"https://openalex.org/keywords/thyroid-hormone-synthesis","display_name":"thyroid hormone synthesis","score":0.503000020980835},{"id":"https://openalex.org/keywords/thyroid-development","display_name":"thyroid development","score":0.7549999952316284},{"id":"https://openalex.org/keywords/newborn-screening","display_name":"newborn screening","score":0.47999998927116394},{"id":"https://openalex.org/keywords/mutation","display_name":"genetic mutations","score":0.32199999690055847}],"concepts":[{"id":"https://openalex.org/C526584372","wikidata":"https://www.wikidata.org/wiki/Q16399","display_name":"Thyroid","level":2,"score":0.7059204578399658},{"id":"https://openalex.org/C2779258352","wikidata":"https://www.wikidata.org/wiki/Q531012","display_name":"Congenital hypothyroidism","level":3,"score":0.667341411113739},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5496257543563843},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.5073034167289734},{"id":"https://openalex.org/C180650514","wikidata":"https://www.wikidata.org/wiki/Q419502","display_name":"Thyroid peroxidase","level":3,"score":0.506578803062439},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.4827839136123657},{"id":"https://openalex.org/C2776254400","wikidata":"https://www.wikidata.org/wiki/Q165135","display_name":"Goiter","level":3,"score":0.4746071696281433},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.47400936484336853},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.43579530715942383},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.4347481429576874},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.43471673130989075},{"id":"https://openalex.org/C124224327","wikidata":"https://www.wikidata.org/wiki/Q21120164","display_name":"PAX8","level":4,"score":0.418593168258667},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3433789312839508},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.32945409417152405},{"id":"https://openalex.org/C86339819","wikidata":"https://www.wikidata.org/wiki/Q407384","display_name":"Transcription factor","level":3,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D000072636","descriptor_name":"PAX8 Transcription Factor","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003409","descriptor_name":"Congenital Hypothyroidism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D004268","descriptor_name":"DNA-Binding Proteins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005820","descriptor_name":"Genetic Testing","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D006042","descriptor_name":"Goiter","qualifier_ui":"Q000151","qualifier_name":"congenital","is_major_topic":false},{"descriptor_ui":"D006042","descriptor_name":"Goiter","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006042","descriptor_name":"Goiter","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007037","descriptor_name":"Hypothyroidism","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007037","descriptor_name":"Hypothyroidism","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009687","descriptor_name":"Nuclear Proteins","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011153","descriptor_name":"Population","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011989","descriptor_name":"Receptors, Thyrotropin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D013961","descriptor_name":"Thyroid Gland","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D015534","descriptor_name":"Trans-Activators","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D020641","descriptor_name":"Polymorphism, Single Nucleotide","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D051761","descriptor_name":"Paired Box Transcription Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1089/105072502320908277","doi":"https://doi.org/10.1089/105072502320908277","is_oa":false,"landing_page_url":"https://doi.org/10.1089/105072502320908277","pdf_url":null,"source":{"id":"https://openalex.org/S27569427","display_name":"Thyroid","issn_l":"1050-7256","issn":["1050-7256","1557-9077"],"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-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320443","host_organization_name":"Mary Ann Liebert, Inc.","host_organization_lineage":["https://openalex.org/P4310320443","https://openalex.org/P4310320017"],"host_organization_lineage_names":["Mary Ann Liebert, Inc.","SAGE Publishing"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Thyroid","raw_type":"journal-article"},{"id":"pmid:12490071","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/12490071","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":"Thyroid : official journal of the American Thyroid Association","raw_type":"Journal Article"},{"id":"pmh:oai:iris.uniroma1.it:11573/1414839","doi":null,"is_oa":false,"landing_page_url":"http://hdl.handle.net/11573/1414839","pdf_url":null,"source":{"id":"https://openalex.org/S4377196107","display_name":"IRIS Research product catalog (Sapienza University of Rome)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.979200005531311}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":22,"referenced_works":["https://openalex.org/W1502197423","https://openalex.org/W1984610630","https://openalex.org/W1990958921","https://openalex.org/W2002868474","https://openalex.org/W2011965528","https://openalex.org/W2019972073","https://openalex.org/W2023922147","https://openalex.org/W2025435728","https://openalex.org/W2033032751","https://openalex.org/W2033360073","https://openalex.org/W2036381849","https://openalex.org/W2037689761","https://openalex.org/W2056343054","https://openalex.org/W2059281924","https://openalex.org/W2061687887","https://openalex.org/W2067643852","https://openalex.org/W2073949581","https://openalex.org/W2074034912","https://openalex.org/W2109030871","https://openalex.org/W2137685652","https://openalex.org/W2318283286","https://openalex.org/W4249192625"],"related_works":["https://openalex.org/W1844569350","https://openalex.org/W4320927512","https://openalex.org/W2803472269","https://openalex.org/W1594261514","https://openalex.org/W2511437298","https://openalex.org/W7100088088","https://openalex.org/W4400674575","https://openalex.org/W2128829524","https://openalex.org/W2065122456","https://openalex.org/W3185262335"],"abstract_inverted_index":{"Congenital":[0],"hypothyroidism":[1],"(CH)":[2],"may":[3],"cause":[4],"severe":[5],"and":[6,9,24,120,169,180,215],"irreversible":[7],"neurologic":[8],"developmental":[10],"abnormalities":[11],"when":[12],"not":[13,165],"recognized":[14],"early.":[15],"Many":[16],"millions":[17],"of":[18,27,38,47,61,106,196,202],"newborns":[19],"have":[20,31,36,44],"now":[21],"been":[22,32],"screened":[23,54],"many":[25],"thousands":[26],"patients":[28,115,190],"with":[29,80,86,90,116,175,234],"CH":[30,56,76,117],"identified.":[33,187,253],"Approximately":[34],"80%-85%":[35],"defects":[37],"thyroid":[39,48,83,91],"gland":[40,84,92],"development,":[41],"while":[42],"15%-20%":[43],"congenital":[45],"errors":[46],"hormone":[49],"biosynthesis.":[50],"An":[51],"entire":[52],"population":[53],"for":[55],"over":[57],"a":[58,70,147,176,232,235],"long":[59],"period":[60],"time,":[62],"was":[63,146,158,209,252,256],"studied":[64],"in":[65,81,104,114,124,141,160,240,258],"the":[66,107,125,129,197,200,203,212,216,219,226],"present":[67],"report,":[68],"using":[69],"population-based":[71],"approach.":[72],"In":[73,128,150,188,199,225],"particular,":[74],"two":[75,151,161],"phenotypes,":[77],"both":[78],"presenting":[79],"situ":[82],"(patients":[85],"either":[87],"goiter":[88],"or":[89],"volume":[93],"ranging":[94],"from":[95,194,211,218],"normal":[96],"to":[97,247],"hypoplasic)":[98],"were":[99,102,139,186,192],"analyzed.":[100],"Mutations":[101],"searched":[103],"some":[105],"most":[108],"likely":[109],"candidate":[110],"genes:":[111],"thyroperoxidase":[112],"(TPO)":[113],"goiter,":[118],"Pax8":[119,259],"thyrotropin":[121],"receptor":[122],"(TSHR)":[123],"other":[126,162,217],"group.":[127],"former":[130],"group":[131,228],"(n":[132,229],"=":[133,230],"8),":[134,231],"four":[135],"TPO":[136],"gene":[137,242],"mutations":[138,164,191],"identified":[140,257],"three":[142],"patients.":[143],"One":[144],"patient":[145,233],"compound":[148,204],"heterozygous.":[149],"cases":[152,163],"an":[153],"already":[154],"described":[155,167],"mutation":[156,208,255],"(1277(insGGCC))":[157,214],"present;":[159],"previously":[166],"(1996(G-->T)":[168],"2295(G-->A)),":[170],"which":[171],"induced":[172],"aminoacid":[173],"variations":[174],"Glu":[177,222],"-->":[178,182,223],"Stop":[179],"Val":[181],"Ile":[183],"changes,":[184],"respectively,":[185],"all":[189],"inherited":[193,210],"one":[195,207],"parents.":[198],"case":[201],"heterozygous":[205],"patient,":[206],"mother":[213],"father":[220],"(1996(G-->T),":[221],"Stop).":[224],"latter":[227],"16-base":[236],"pair":[237],"C(T)(13)CC":[238],"deletion":[239],"TSHR":[241],"intron":[243],"8,":[244],"42-bp":[245],"distal":[246],"exon/intron":[248],"8":[249],"splice":[250],"junction,":[251],"No":[254],"gene.":[260]},"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2016,"cited_by_count":2},{"year":2014,"cited_by_count":3},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
