Publication Information

{'id': 'https://openalex.org/W2023678272', 'doi': 'https://doi.org/10.1007/bf02265263', 'title': 'Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9', 'display_name': 'Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9', 'publication_year': 1996, 'publication_date': '1996-02-01', 'ids': {'openalex': 'https://openalex.org/W2023678272', 'doi': 'https://doi.org/10.1007/bf02265263', 'mag': '2023678272', 'pmid': 'https://pubmed.ncbi.nlm.nih.gov/8566951'}, 'language': 'en', 'primary_location': {'is_oa': False, 'landing_page_url': 'https://doi.org/10.1007/bf02265263', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S199832308', 'display_name': 'Human Genetics', 'issn_l': '0340-6717', 'issn': ['0340-6717', '1432-1203'], '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/A5047459421', 'display_name': 'Jutta Wirth', 'orcid': 'https://orcid.org/0000-0001-6530-3991'}, 'institutions': [], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Jutta Wirth', 'raw_affiliation_strings': ['Institut für Humangenetik und Anthropologie der Universität, Freiburg, Germany'], 'affiliations': [{'raw_affiliation_string': 'Institut für Humangenetik und Anthropologie der Universität, Freiburg, Germany', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5024230022', 'display_name': 'Thomas Wagner', 'orcid': 'https://orcid.org/0000-0002-7487-331X'}, 'institutions': [], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Thomas Wagner', 'raw_affiliation_strings': ['Institut für Humangenetik und Anthropologie der Universität Freiburg i. Br., Germany'], 'affiliations': [{'raw_affiliation_string': 'Institut für Humangenetik und Anthropologie der Universität Freiburg i. Br., Germany', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5012749689', 'display_name': 'Jobst Meyer', 'orcid': 'https://orcid.org/0000-0001-5296-8679'}, 'institutions': [], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Jobst Meyer', 'raw_affiliation_strings': ['Institut für Humangenetik und Anthropologie der Universität Freiburg i. Br., Germany'], 'affiliations': [{'raw_affiliation_string': 'Institut für Humangenetik und Anthropologie der Universität Freiburg i. Br., Germany', 'institution_ids': []}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5111554488', 'display_name': 'Rudolf A. Pfeiffer', 'orcid': None}, 'institutions': [{'id': 'https://openalex.org/I4210135659', 'display_name': 'Praxis für Humangenetik', 'ror': 'https://ror.org/04cwrrv92', 'country_code': 'DE', 'type': 'facility', 'lineage': ['https://openalex.org/I4210135659']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Rudolf A. Pfeiffer', 'raw_affiliation_strings': ['Institut für Humangenetik, Erlangen, Germany'], 'affiliations': [{'raw_affiliation_string': 'Institut für Humangenetik, Erlangen, Germany', 'institution_ids': ['https://openalex.org/I4210135659']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5012034178', 'display_name': 'H. U. Tietze', 'orcid': 'https://orcid.org/0009-0006-4081-8802'}, 'institutions': [{'id': 'https://openalex.org/I4210119321', 'display_name': 'Cnopf´sche Kinderklinik', 'ror': 'https://ror.org/02ccsj972', 'country_code': 'DE', 'type': 'healthcare', 'lineage': ['https://openalex.org/I4210119321']}], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Hans-Ulrich Tietze', 'raw_affiliation_strings': ["Cnopf'sche Kinderklinik, Nürnberg, Germany"], 'affiliations': [{'raw_affiliation_string': "Cnopf'sche Kinderklinik, Nürnberg, Germany", 'institution_ids': ['https://openalex.org/I4210119321']}]}, {'author_position': 'middle', 'author': {'id': 'https://openalex.org/A5000816192', 'display_name': 'W. Schempp', 'orcid': None}, 'institutions': [], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Werner Schempp', 'raw_affiliation_strings': ['Institut für Humangenetik und Anthropologie der Universität Freiburg i. Br., Germany'], 'affiliations': [{'raw_affiliation_string': 'Institut für Humangenetik und Anthropologie der Universität Freiburg i. Br., Germany', 'institution_ids': []}]}, {'author_position': 'last', 'author': {'id': 'https://openalex.org/A5023621154', 'display_name': 'Gerd Scherer', 'orcid': 'https://orcid.org/0000-0002-4661-6922'}, 'institutions': [], 'countries': ['DE'], 'is_corresponding': False, 'raw_author_name': 'Gerd Scherer', 'raw_affiliation_strings': ['Institut für Humangenetik und Anthropologie der Universität Freiburg i. Br., Germany'], 'affiliations': [{'raw_affiliation_string': 'Institut für Humangenetik und Anthropologie der Universität Freiburg i. Br., Germany', 'institution_ids': []}]}], 'institution_assertions': [], 'countries_distinct_count': 1, 'institutions_distinct_count': 2, 'corresponding_author_ids': [], 'corresponding_institution_ids': [], 'apc_list': {'value': 3790, 'currency': 'EUR', 'value_usd': 4690, 'provenance': 'doaj'}, 'apc_paid': None, 'fwci': 3.939, 'has_fulltext': True, 'fulltext_origin': 'ngrams', 'cited_by_count': 96, 'citation_normalized_percentile': {'value': 0.95971, 'is_in_top_1_percent': False, 'is_in_top_10_percent': True}, 'cited_by_percentile_year': {'min': 95, 'max': 96}, 'biblio': {'volume': '97', 'issue': '2', 'first_page': '186', 'last_page': '193'}, 'is_retracted': False, 'is_paratext': False, 'primary_topic': {'id': 'https://openalex.org/T11077', 'display_name': 'Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities', 'score': 0.9999, 'subfield': {'id': 'https://openalex.org/subfields/1311', 'display_name': 'Genetics'}, 'field': {'id': 'https://openalex.org/fields/13', 'display_name': 'Biochemistry, Genetics and Molecular Biology'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}, 'topics': [{'id': 'https://openalex.org/T11077', 'display_name': 'Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities', 'score': 0.9999, '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': 'Sexual Differentiation and Disorders', 'score': 0.9791, '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/T10434', 'display_name': 'Chromosomal and Genetic Variations', 'score': 0.955, 'subfield': {'id': 'https://openalex.org/subfields/1110', 'display_name': 'Plant Science'}, 'field': {'id': 'https://openalex.org/fields/11', 'display_name': 'Agricultural and Biological Sciences'}, 'domain': {'id': 'https://openalex.org/domains/1', 'display_name': 'Life Sciences'}}], 'keywords': [{'id': 'https://openalex.org/keywords/breakpoint', 'display_name': 'Breakpoint', 'score': 0.9077064}, {'id': 'https://openalex.org/keywords/sox9', 'display_name': 'SOX9', 'score': 0.74488384}, {'id': 'https://openalex.org/keywords/testis-determining-factor', 'display_name': 'Testis determining factor', 'score': 0.6689544}, {'id': 'https://openalex.org/keywords/sex-reversal', 'display_name': 'Sex reversal', 'score': 0.44393}], 'concepts': [{'id': 'https://openalex.org/C206936463', 'wikidata': 'https://www.wikidata.org/wiki/Q634179', 'display_name': 'Breakpoint', 'level': 4, 'score': 0.9077064}, {'id': 'https://openalex.org/C86803240', 'wikidata': 'https://www.wikidata.org/wiki/Q420', 'display_name': 'Biology', 'level': 0, 'score': 0.8456068}, {'id': 'https://openalex.org/C2778486617', 'wikidata': 'https://www.wikidata.org/wiki/Q18031654', 'display_name': 'SOX9', 'level': 4, 'score': 0.74488384}, {'id': 'https://openalex.org/C138626823', 'wikidata': 'https://www.wikidata.org/wiki/Q916504', 'display_name': 'Chromosomal translocation', 'level': 3, 'score': 0.69045883}, {'id': 'https://openalex.org/C54355233', 'wikidata': 'https://www.wikidata.org/wiki/Q7162', 'display_name': 'Genetics', 'level': 1, 'score': 0.66992366}, {'id': 'https://openalex.org/C73456138', 'wikidata': 'https://www.wikidata.org/wiki/Q409114', 'display_name': 'Testis determining factor', 'level': 4, 'score': 0.6689544}, {'id': 'https://openalex.org/C2777542201', 'wikidata': 'https://www.wikidata.org/wiki/Q1336182', 'display_name': 'Fluorescence in situ hybridization', 'level': 4, 'score': 0.59825146}, {'id': 'https://openalex.org/C153911025', 'wikidata': 'https://www.wikidata.org/wiki/Q7202', 'display_name': 'Molecular biology', 'level': 1, 'score': 0.54965055}, {'id': 'https://openalex.org/C2780753755', 'wikidata': 'https://www.wikidata.org/wiki/Q7458535', 'display_name': 'Sex reversal', 'level': 3, 'score': 0.44393}, {'id': 'https://openalex.org/C174475383', 'wikidata': 'https://www.wikidata.org/wiki/Q246128', 'display_name': 'Cytogenetics', 'level': 4, 'score': 0.4185697}, {'id': 'https://openalex.org/C104317684', 'wikidata': 'https://www.wikidata.org/wiki/Q7187', 'display_name': 'Gene', 'level': 2, 'score': 0.3215035}, {'id': 'https://openalex.org/C150194340', 'wikidata': 'https://www.wikidata.org/wiki/Q26972', 'display_name': 'Gene expression', 'level': 3, 'score': 0.12481484}, {'id': 'https://openalex.org/C30481170', 'wikidata': 'https://www.wikidata.org/wiki/Q37748', 'display_name': 'Chromosome', 'level': 3, 'score': 0.121727705}, {'id': 'https://openalex.org/C2780246931', 'wikidata': 'https://www.wikidata.org/wiki/Q202771', 'display_name': 'Y chromosome', 'level': 3, 'score': 0.12109715}], 'mesh': [{'descriptor_ui': 'D002874', 'descriptor_name': 'Chromosome Mapping', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D002886', 'descriptor_name': 'Chromosomes, Human, Pair 17', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D006609', 'descriptor_name': 'High Mobility Group Proteins', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D010009', 'descriptor_name': 'Osteochondrodysplasias', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D014157', 'descriptor_name': 'Transcription Factors', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': True}, {'descriptor_ui': 'D014178', 'descriptor_name': 'Translocation, Genetic', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': True}, {'descriptor_ui': 'D000483', 'descriptor_name': 'Alleles', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D001483', 'descriptor_name': 'Base Sequence', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002460', 'descriptor_name': 'Cell Line', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002869', 'descriptor_name': 'Chromosome Aberrations', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D002869', 'descriptor_name': 'Chromosome Aberrations', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D025063', 'descriptor_name': 'Chromosome Disorders', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D002896', 'descriptor_name': 'Chromosomes, Human, Pair 6', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012734', 'descriptor_name': 'Disorders of Sex Development', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D012734', 'descriptor_name': 'Disorders of Sex Development', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D005260', 'descriptor_name': 'Female', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D006609', 'descriptor_name': 'High Mobility Group Proteins', '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': 'D007231', 'descriptor_name': 'Infant, Newborn', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D007621', 'descriptor_name': 'Karyotyping', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008214', 'descriptor_name': 'Lymphocytes', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D008969', 'descriptor_name': 'Molecular Sequence Data', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D010009', 'descriptor_name': 'Osteochondrodysplasias', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012150', 'descriptor_name': 'Polymorphism, Restriction Fragment Length', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012313', 'descriptor_name': 'RNA', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D012313', 'descriptor_name': 'RNA', 'qualifier_ui': 'Q000235', 'qualifier_name': 'genetics', 'is_major_topic': False}, {'descriptor_ui': 'D055758', 'descriptor_name': 'SOX9 Transcription Factor', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}, {'descriptor_ui': 'D014157', 'descriptor_name': 'Transcription Factors', 'qualifier_ui': '', 'qualifier_name': None, 'is_major_topic': False}], 'locations_count': 2, 'locations': [{'is_oa': False, 'landing_page_url': 'https://doi.org/10.1007/bf02265263', 'pdf_url': None, 'source': {'id': 'https://openalex.org/S199832308', 'display_name': 'Human Genetics', 'issn_l': '0340-6717', 'issn': ['0340-6717', '1432-1203'], '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/8566951', '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': 29, 'referenced_works': ['https://openalex.org/W120968873', 'https://openalex.org/W1518105100', 'https://openalex.org/W1777379465', 'https://openalex.org/W1972239717', 'https://openalex.org/W1973295687', 'https://openalex.org/W1990074059', 'https://openalex.org/W1994720066', 'https://openalex.org/W1999071440', 'https://openalex.org/W2003900749', 'https://openalex.org/W2009201056', 'https://openalex.org/W2014364643', 'https://openalex.org/W2014669590', 'https://openalex.org/W2037855769', 'https://openalex.org/W2038795786', 'https://openalex.org/W2056046316', 'https://openalex.org/W2058589009', 'https://openalex.org/W2062082460', 'https://openalex.org/W2063599822', 'https://openalex.org/W2076832991', 'https://openalex.org/W2086013207', 'https://openalex.org/W2090268833', 'https://openalex.org/W2095162144', 'https://openalex.org/W2106302702', 'https://openalex.org/W2131230379', 'https://openalex.org/W2144634347', 'https://openalex.org/W2159231404', 'https://openalex.org/W2169716899', 'https://openalex.org/W2314225431', 'https://openalex.org/W4245242081'], 'related_works': ['https://openalex.org/W4214884428', 'https://openalex.org/W2904231437', 'https://openalex.org/W2586902837', 'https://openalex.org/W2349722508', 'https://openalex.org/W2133819776', 'https://openalex.org/W2099408220', 'https://openalex.org/W2077900057', 'https://openalex.org/W1991182179', 'https://openalex.org/W1590525825', 'https://openalex.org/W1486895198'], 'abstract_inverted_index': None, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W2023678272', 'counts_by_year': [{'year': 2024, 'cited_by_count': 1}, {'year': 2022, 'cited_by_count': 1}, {'year': 2021, 'cited_by_count': 3}, {'year': 2019, 'cited_by_count': 1}, {'year': 2018, 'cited_by_count': 3}, {'year': 2017, 'cited_by_count': 2}, {'year': 2016, 'cited_by_count': 3}, {'year': 2015, 'cited_by_count': 3}, {'year': 2014, 'cited_by_count': 3}, {'year': 2013, 'cited_by_count': 2}, {'year': 2012, 'cited_by_count': 2}], 'updated_date': '2024-12-15T17:43:37.746565', 'created_date': '2016-06-24'}