Get quick answers to your questions about the article from our AI researcher chatbot
{'id': 'https://openalex.org/W2461330286', 'doi': 'https://doi.org/10.1007/bf03345260', 'title': 'A de novo phe67leu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis', 'display_name': 'A de novo phe67leu mutation in the SRY gene in a patient with complete 46,XY gonadal dysgenesis', 'publication_year': 2003, 'publication_date': '2003-11-01', 'ids': {'openalex': 'https://openalex.org/W2461330286', 'doi': 'https://doi.org/10.1007/bf03345260', 'mag': '2461330286', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/15008251'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1007/bf03345260', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S207799248', 'display_name': 'Journal of Endocrinological Investigation', 'issn_l': '0391-4097', 'issn': ['0391-4097', '1720-8386'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319900', 'host_organization_name': 'Springer Science+Business Media', 'host_organization_lineage': ['https://openalex.org/P4310319965', 'https://openalex.org/P4310319900'], 'host_organization_lineage_names': ['Springer Nature', 'Springer Science+Business Media'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, 'type': 'article', 'type_crossref': 'journal-article', 'indexed_in': ['crossref', 'pubmed'], 'open_access': {'is_oa': False, 'oa_status': 'closed', 'oa_url': None, 'any_repository_has_fulltext': False}, 'authorships': [{'author_position': 'first', 'author': {'id': 'https://openalex.org/A5067403293', 'display_name': 'Juan Carlos Zenteno', 'orcid': 'https://orcid.org/0000-0002-9716-8146'}, 'institutions': [{'id': 'https://openalex.org/I2802421035', 'display_name': 'Hospital General de México', 'ror': 'https://ror.org/01php1d31', 'country_code': 'MX', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802421035', 'https://openalex.org/I4210095685']}], 'countries': ['MX'], 'is_corresponding': False, 'raw_author_name': 'J. C. Zenteno', 'raw_affiliation_strings': ['Hospital General de Mexico-Facultad de Medicina, UNAM'], 'affiliations': [{'raw_affiliation_string': 'Hospital General de Mexico-Facultad de Medicina, UNAM', 'institution_ids': ['https://openalex.org/I2802421035']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5005253767', 'display_name': 'Sebastián Carranza‐Lira', 'orcid': 'https://orcid.org/0000-0001-7199-264X'}, 'institutions': [{'id': 'https://openalex.org/I164915025', 'display_name': 'Mexican Social Security Institute', 'ror': 'https://ror.org/03xddgg98', 'country_code': 'MX', 'type': 'government', 'lineage': ['https://openalex.org/I164915025']}], 'countries': ['MX'], 'is_corresponding': False, 'raw_author_name': 'S. Carranza-Lira', 'raw_affiliation_strings': ['Departamento de Gineco-obstetricia, Hospital “Luis Castelazo A”, IMSS, Mexico, D.F., Mexico'], 'affiliations': [{'raw_affiliation_string': 'Departamento de Gineco-obstetricia, Hospital “Luis Castelazo A”, IMSS, Mexico, D.F., Mexico', 'institution_ids': ['https://openalex.org/I164915025']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5048397261', 'display_name': 'Ana Luisa Jiménez', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I2802421035', 'display_name': 'Hospital General de México', 'ror': 'https://ror.org/01php1d31', 'country_code': 'MX', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802421035', 'https://openalex.org/I4210095685']}], 'countries': ['MX'], 'is_corresponding': False, 'raw_author_name': 'A. L. Jiménez', 'raw_affiliation_strings': ['Hospital General de Mexico-Facultad de Medicina, UNAM'], 'affiliations': [{'raw_affiliation_string': 'Hospital General de Mexico-Facultad de Medicina, UNAM', 'institution_ids': ['https://openalex.org/I2802421035']}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5024836818', 'display_name': 'Susana Kofman', 'orcid': 'https://orcid.org/0000-0002-0644-6586'}, 'institutions': [{'id': 'https://openalex.org/I2802421035', 'display_name': 'Hospital General de México', 'ror': 'https://ror.org/01php1d31', 'country_code': 'MX', 'type': 'healthcare', 'lineage': ['https://openalex.org/I2802421035', 'https://openalex.org/I4210095685']}], 'countries': ['MX'], 'is_corresponding': False, 'raw_author_name': 'S. Kofman', 'raw_affiliation_strings': ['Hospital General de Mexico-Facultad de Medicina, UNAM'], 'affiliations': [{'raw_affiliation_string': 'Hospital General de Mexico-Facultad de Medicina, UNAM', 'institution_ids': ['https://openalex.org/I2802421035']}]}], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 3390, 'currency': 'EUR', 'value_usd': 4390, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 0.189, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 6, 'citation_normalized_percentile': {'value': 0.615689, 'is_in_top_1_percent': False, 'is_in_top_10_percent': False}, 'cited_by_percentile_year': {'min': 77, 'max': 78}, 'biblio': {'volume': '26', 'issue': '11', 'first_page': '1117', 'last_page': '1119'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11077', 'display_name': 'Sex Determination and Differentiation in Organisms', 'score': 1.0, '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': 'Sex Determination and Differentiation in Organisms', 'score': 1.0, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T11956', 'display_name': 'Molecular Biology of Steroidogenesis and Disorders', 'score': 0.9985, 'subfield': {'id': 'https://openalex.org/subfields/1312', 'display_name': 'Molecular Biology'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, {'id': 'https://openalex.org/T10116', 'display_name': 'Male Reproductive Health', 'score': 0.9654, '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/testis-determining-factor', 'display_name': 'Testis determining factor', 'score': 0.98996985}, {'id': 'https://openalex.org/keywords/gonadal-dysgenesis', 'display_name': 'Gonadal dysgenesis', 'score': 0.75423944}, {'id': 'https://openalex.org/keywords/sex-reversal', 'display_name': 'Sex reversal', 'score': 0.6152479}, {'id': 'https://openalex.org/keywords/sry-gene', 'display_name': 'SRY Gene', 'score': 0.595619}, {'id': 'https://openalex.org/keywords/y-chromosome-degeneration', 'display_name': 'Y Chromosome Degeneration', 'score': 0.588964}, {'id': 'https://openalex.org/keywords/sexually-dimorphic-gene-expression', 'display_name': 'Sexually Dimorphic Gene Expression', 'score': 0.550203}, {'id': 'https://openalex.org/keywords/sex-determination', 'display_name': 'Sex Determination', 'score': 0.513135}, {'id': 'https://openalex.org/keywords/sperm-dna-fragmentation', 'display_name': 'Sperm DNA Fragmentation', 'score': 0.512527}], 'concepts': [{'id': 'https://openalex.org/C73456138', 'wikidata': 'https://www.wikidata.org/wiki/Q409114', 'display_name': 'Testis determining factor', 'level': 4, 'score': 0.98996985}, {'id': 'https://openalex.org/C2778324535', 'wikidata': 'https://www.wikidata.org/wiki/Q1332427', 'display_name': 'Gonadal dysgenesis', 'level': 2, 'score': 0.75423944}, {'id': 'https://openalex.org/C2780246931', 'wikidata': 'https://www.wikidata.org/wiki/Q202771', 'display_name': 'Y chromosome', 'level': 3, 'score': 0.7297487}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.65286607}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.62312853}, {'id': 'https://openalex.org/C2780753755', 'wikidata': 'https://www.wikidata.org/wiki/Q7458535', 'display_name': 'Sex reversal', 'level': 3, 'score': 0.6152479}, {'id': 'https://openalex.org/C501734568', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Mutation', 'level': 3, 'score': 0.5385787}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.515007}, {'id': 'https://openalex.org/C35158069', 'wikidata': 'https://www.wikidata.org/wiki/Q61333', 'display_name': 'X chromosome', 'level': 3, 'score': 0.44797176}, {'id': 'https://openalex.org/C30481170', 'wikidata': 'https://www.wikidata.org/wiki/Q37748', 'display_name': 'Chromosome', 'level': 3, 'score': 0.43022147}, {'id': 'https://openalex.org/C2994225774', 'wikidata': 'https://www.wikidata.org/wiki/Q42918', 'display_name': 'Gene mutation', 'level': 4, 'score': 0.41861475}, {'id': 'https://openalex.org/C134018914', 'wikidata': 'https://www.wikidata.org/wiki/Q162606', 'display_name': 'Endocrinology', 'level': 1, 'score': 0.23467973}], 'mesh': [{'descriptor_ui': 'D024282', 'descriptor_name': 'Genes, sry', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D006061', 'descriptor_name': 'Gonadal Dysgenesis, 46,XY', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D006061', 'descriptor_name': 'Gonadal Dysgenesis, 46,XY', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D017354', 'descriptor_name': 'Point Mutation', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D000293', 'descriptor_name': 'Adolescent', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004247', 'descriptor_name': 'DNA', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D004247', 'descriptor_name': 'DNA', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D004247', 'descriptor_name': 'DNA', 'qualifier_ui': 'Q000737', 'qualifier_name': 'chemistry', 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D024282', 'descriptor_name': 'Genes, sry', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006801', 'descriptor_name': 'Humans', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008297', 'descriptor_name': 'Male', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D016133', 'descriptor_name': 'Polymerase Chain Reaction', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D017422', 'descriptor_name': 'Sequence Analysis, DNA', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1007/bf03345260', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S207799248', 'display_name': 'Journal of Endocrinological Investigation', 'issn_l': '0391-4097', 'issn': ['0391-4097', '1720-8386'], 'is_oa': False, 'is_in_doaj': False, 'is_core': True, 'host_organization': 'https://openalex.org/P4310319900', 'host_organization_name': 'Springer Science+Business Media', 'host_organization_lineage': ['https://openalex.org/P4310319965', 'https://openalex.org/P4310319900'], 'host_organization_lineage_names': ['Springer Nature', 'Springer Science+Business Media'], 'type': 'journal'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}, {'is_oa': False, 'landing_page_url': 'https://pubmed.ncbi.nlm.nih.gov/15008251', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S4306525036', 'display_name': 'PubMed', 'issn_l': None, 'issn': None, 'is_oa': False, 'is_in_doaj': False, 'is_core': False, 'host_organization': 'https://openalex.org/I1299303238', 'host_organization_name': 'National Institutes of Health', 'host_organization_lineage': ['https://openalex.org/I1299303238'], 'host_organization_lineage_names': ['National Institutes of Health'], 'type': 'repository'}, 'license': None, 'license_id': None, 'version': None, 'is_accepted': False, 'is_published': False}], 'best_oa_location': None, 'sustainable_development_goals': [], 'grants': [], 'datasets': [], 'versions': [], 'referenced_works_count': 13, 'referenced_works': ['https://openalex.org/W1505938172', 'https://openalex.org/W1570696801', 'https://openalex.org/W1982886792', 'https://openalex.org/W1983300728', 'https://openalex.org/W1984995721', 'https://openalex.org/W2012110945', 'https://openalex.org/W2013246689', 'https://openalex.org/W2050386042', 'https://openalex.org/W2081489444', 'https://openalex.org/W2082768339', 'https://openalex.org/W2115286474', 'https://openalex.org/W2156569602', 'https://openalex.org/W2157770376'], 'related_works': ['https://openalex.org/W4300873378', 'https://openalex.org/W2461330286', 'https://openalex.org/W2129295306', 'https://openalex.org/W2077900057', 'https://openalex.org/W2074810889', 'https://openalex.org/W2060339971', 'https://openalex.org/W2019509964', 'https://openalex.org/W2018278391', 'https://openalex.org/W1989867108', 'https://openalex.org/W1964292567'], 'abstract_inverted_index': None, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2461330286', 'counts_by_year': [{'year': 2021, 'cited_by_count': 1}, {'year': 2018, 'cited_by_count': 1}, {'year': 2015, 'cited_by_count': 1}, {'year': 2012, 'cited_by_count': 1}], 'updated_date': '2024-08-15T14:29:28.933432', 'created_date': '2016-07-22'}