{"id":"https://openalex.org/W2016491685","doi":"https://doi.org/10.1007/bf00274212","title":"The phenotype in de novo and familial pericentric inversion 6. A problem in karyotype-phenotype correlation","display_name":"The phenotype in de novo and familial pericentric inversion 6. A problem in karyotype-phenotype correlation","publication_year":1982,"publication_date":"1982-09-01","ids":{"openalex":"https://openalex.org/W2016491685","doi":"https://doi.org/10.1007/bf00274212","mag":"2016491685","pmid":"https://pubmed.ncbi.nlm.nih.gov/7129445"},"language":"en","primary_location":{"id":"doi:10.1007/bf00274212","doi":"https://doi.org/10.1007/bf00274212","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00274212","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"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/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human 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/A5110317910","display_name":"Angela Schmidt","orcid":"https://orcid.org/0000-0001-8146-0698","observed_orcids":["https://orcid.org/0000-0001-8146-0698"]},"institutions":[{"id":"https://openalex.org/I4210119759","display_name":"Essen University Hospital","ror":"https://ror.org/02na8dn90","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210119759"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Angela Schmidt","raw_affiliation_strings":["Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen, Hufelandstr. 55, D-4300, Essen 1, Federal Republic of Germany","Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen, Essen 1, Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen, Hufelandstr. 55, D-4300, Essen 1, Federal Republic of Germany","institution_ids":["https://openalex.org/I4210119759"]},{"raw_affiliation_string":"Institut f\u00fcr Humangenetik, Universit\u00e4tsklinikum Essen, Essen 1, Federal Republic of Germany","institution_ids":["https://openalex.org/I4210119759"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":["https://openalex.org/A5110317910"],"corresponding_institution_ids":["https://openalex.org/I4210119759"],"apc_list":{"value":3690,"currency":"USD","value_usd":3690},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":3,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"61","issue":"2","first_page":"167","last_page":"170"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9980000257492065,"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9980000257492065,"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/T13664","display_name":"Genome Rearrangement Algorithms","score":0.0006000000284984708,"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/T11642","display_name":"Genomics and Rare Diseases","score":0.00039999998989515007,"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/familial-inversion","display_name":"familial inversion","score":0.890999972820282},{"id":"https://openalex.org/keywords/karyotype-phenotype-correlation","display_name":"karyotype-phenotype correlation","score":0.968999981880188},{"id":"https://openalex.org/keywords/chromosomal-imbalances","display_name":"chromosomal imbalances","score":0.753000020980835},{"id":"https://openalex.org/keywords/dysmorphism","display_name":"dysmorphic features","score":0.871999979019165},{"id":"https://openalex.org/keywords/low-birth-weight","display_name":"low birth weight","score":0.7570000290870667},{"id":"https://openalex.org/keywords/short-stature","display_name":"short stature","score":0.9890000224113464},{"id":"https://openalex.org/keywords/intellectual-disability","display_name":"intellectual disability","score":0.8289999961853027},{"id":"https://openalex.org/keywords/macrocephaly","display_name":"macrocephaly","score":0.9610000252723694},{"id":"https://openalex.org/keywords/hypertelorism","display_name":"hypertelorism","score":0.9810000061988831},{"id":"https://openalex.org/keywords/seizures","display_name":"seizures","score":0.7860000133514404},{"id":"https://openalex.org/keywords/developmental-delay","display_name":"developmental delay","score":0.8259999752044678},{"id":"https://openalex.org/keywords/hla-region","display_name":"HLA region","score":0.859000027179718}],"concepts":[{"id":"https://openalex.org/C2779286207","wikidata":"https://www.wikidata.org/wiki/Q1641128","display_name":"Hypertelorism","level":2,"score":0.8497998714447021},{"id":"https://openalex.org/C2781083543","wikidata":"https://www.wikidata.org/wiki/Q635339","display_name":"Macrocephaly","level":2,"score":0.84693443775177},{"id":"https://openalex.org/C165984737","wikidata":"https://www.wikidata.org/wiki/Q1070877","display_name":"Chromosomal inversion","level":5,"score":0.8129862546920776},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8059836626052856},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.6564825773239136},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6191700100898743},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.6167223453521729},{"id":"https://openalex.org/C2777871287","wikidata":"https://www.wikidata.org/wiki/Q7502090","display_name":"Short stature","level":2,"score":0.5004239082336426},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.49024468660354614},{"id":"https://openalex.org/C2908755955","wikidata":"https://www.wikidata.org/wiki/Q744962","display_name":"Chromosomal Abnormality","level":5,"score":0.43239688873291016},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.2998009920120239},{"id":"https://openalex.org/C134018914","wikidata":"https://www.wikidata.org/wiki/Q162606","display_name":"Endocrinology","level":1,"score":0.12607985734939575},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.08891120553016663}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002906","descriptor_name":"Chromosomes, Human, 6-12 and X","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D005260","descriptor_name":"Female","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":"D007223","descriptor_name":"Infant","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007446","descriptor_name":"Chromosome Inversion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D008607","descriptor_name":"Intellectual Disability","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1007/bf00274212","doi":"https://doi.org/10.1007/bf00274212","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00274212","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"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/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},{"id":"pmid:7129445","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7129445","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":"Human genetics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8560000061988831,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":11,"referenced_works":["https://openalex.org/W22465839","https://openalex.org/W151770518","https://openalex.org/W587018422","https://openalex.org/W1965846999","https://openalex.org/W1972488828","https://openalex.org/W2035769638","https://openalex.org/W2041520699","https://openalex.org/W2042233022","https://openalex.org/W2303617952","https://openalex.org/W2413043748","https://openalex.org/W2417009049"],"related_works":["https://openalex.org/W1971196860","https://openalex.org/W2043278990","https://openalex.org/W2083161069","https://openalex.org/W2413043748","https://openalex.org/W1966122277","https://openalex.org/W1986404565","https://openalex.org/W2090335545","https://openalex.org/W2150608735","https://openalex.org/W1976777926","https://openalex.org/W1989372261"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-11-10T11:39:43.021295","created_date":"2016-06-24T00:00:00"}