{"id":"https://openalex.org/W2040499644","doi":"https://doi.org/10.1111/j.1399-0004.1986.tb01254.x","title":"Congenital heart disease in supernumerary der(22), t(11;22) syndrome","display_name":"Congenital heart disease in supernumerary der(22), t(11;22) syndrome","publication_year":1986,"publication_date":"1986-04-01","ids":{"openalex":"https://openalex.org/W2040499644","doi":"https://doi.org/10.1111/j.1399-0004.1986.tb01254.x","mag":"2040499644","pmid":"https://pubmed.ncbi.nlm.nih.gov/3720005"},"language":"en","primary_location":{"id":"doi:10.1111/j.1399-0004.1986.tb01254.x","doi":"https://doi.org/10.1111/j.1399-0004.1986.tb01254.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1399-0004.1986.tb01254.x","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","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/A5005663969","display_name":"Angela E. Lin","orcid":"https://orcid.org/0000-0002-1145-4572","observed_orcids":["https://orcid.org/0000-0002-1145-4572"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Angela E. Lin","raw_affiliation_strings":["The Cardiology Division, Children's Hospital of Philadelphia, University of Pennsylvania, School of Medicine, Philadelphia, PA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Cardiology Division, Children's Hospital of Philadelphia, University of Pennsylvania, School of Medicine, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033147177","display_name":"Juan Bernar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Juan Bernar","raw_affiliation_strings":["Departments of Pediatrics, Medicine, and Divisions of Cardiology and Genetics, UCLA School of Medicine, Los Angeles, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics, Medicine, and Divisions of Cardiology and Genetics, UCLA School of Medicine, Los Angeles, CA","institution_ids":["https://openalex.org/I161318765"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010552426","display_name":"Alvin J. Chin","orcid":"https://orcid.org/0000-0002-0417-8653","observed_orcids":["https://orcid.org/0000-0002-0417-8653"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Alvin J. Chin","raw_affiliation_strings":["The Cardiology Division, Children's Hospital of Philadelphia, University of Pennsylvania, School of Medicine, Philadelphia, PA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"The Cardiology Division, Children's Hospital of Philadelphia, University of Pennsylvania, School of Medicine, Philadelphia, PA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109925838","display_name":"Robert S. Sparkes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I161318765","display_name":"University of California, Los Angeles","ror":"https://ror.org/046rm7j60","country_code":"US","type":"education","lineage":["https://openalex.org/I161318765"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Robert S. Sparkes","raw_affiliation_strings":["Departments of Pediatrics, Medicine, and Divisions of Cardiology and Genetics, UCLA School of Medicine, Los Angeles, CA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Departments of Pediatrics, Medicine, and Divisions of Cardiology and Genetics, UCLA School of Medicine, Los Angeles, CA","institution_ids":["https://openalex.org/I161318765"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023255205","display_name":"Beverly S. Emanuel","orcid":"https://orcid.org/0000-0002-9207-6955","observed_orcids":["https://orcid.org/0000-0002-9207-6955"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Beverly S. Emanuel","raw_affiliation_strings":["Clinical Genetics Center, Children's Hospital of Philadelphia, University of Pennsylvania, School of Medicine, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Center, Children's Hospital of Philadelphia, University of Pennsylvania, School of Medicine, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5008262289","display_name":"Elaine H. Zackai","orcid":"https://orcid.org/0000-0002-8002-893X","observed_orcids":["https://orcid.org/0000-0002-8002-893X"]},"institutions":[{"id":"https://openalex.org/I1335321130","display_name":"Children's Hospital of Philadelphia","ror":"https://ror.org/01z7r7q48","country_code":"US","type":"funder","lineage":["https://openalex.org/I1335321130"]},{"id":"https://openalex.org/I79576946","display_name":"University of Pennsylvania","ror":"https://ror.org/00b30xv10","country_code":"US","type":"education","lineage":["https://openalex.org/I79576946"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Elaine H. Zackai","raw_affiliation_strings":["Clinical Genetics Center, Children's Hospital of Philadelphia, University of Pennsylvania, School of Medicine, Philadelphia, PA, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Center, Children's Hospital of Philadelphia, University of Pennsylvania, School of Medicine, Philadelphia, PA, USA","institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5008262289"],"corresponding_institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I79576946"],"apc_list":{"value":4980,"currency":"USD","value_usd":4980},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":37,"citation_normalized_percentile":{"value":0.12076285,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":97},"biblio":{"volume":"29","issue":"4","first_page":"269","last_page":"275"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.5023999810218811,"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":0.5023999810218811,"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/T10300","display_name":"Congenital Heart Disease Studies","score":0.2847000062465668,"subfield":{"id":"https://openalex.org/subfields/2713","display_name":"Epidemiology"},"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/T11677","display_name":"Congenital heart defects research","score":0.06379999965429306,"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"}}],"keywords":[{"id":"https://openalex.org/keywords/congenital-heart-disease","display_name":"congenital heart disease","score":0.9160000085830688},{"id":"https://openalex.org/keywords/philadelphia-chromosome","display_name":"Philadelphia chromosome","score":0.6309999823570251},{"id":"https://openalex.org/keywords/atrial-septal-defect","display_name":"atrial septal defect","score":1.0},{"id":"https://openalex.org/keywords/ventricular-septal-defect","display_name":"ventricular septal defect","score":1.0},{"id":"https://openalex.org/keywords/patent-ductus-arteriosus","display_name":"patent ductus arteriosus","score":1.0},{"id":"https://openalex.org/keywords/survival","display_name":"survival","score":0.847000002861023}],"concepts":[{"id":"https://openalex.org/C2781236024","wikidata":"https://www.wikidata.org/wiki/Q1163923","display_name":"Ductus arteriosus","level":2,"score":0.8486732244491577},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7427219748497009},{"id":"https://openalex.org/C2780074459","wikidata":"https://www.wikidata.org/wiki/Q389735","display_name":"Heart disease","level":2,"score":0.7334520220756531},{"id":"https://openalex.org/C164705383","wikidata":"https://www.wikidata.org/wiki/Q10379","display_name":"Cardiology","level":1,"score":0.7002884745597839},{"id":"https://openalex.org/C2780610479","wikidata":"https://www.wikidata.org/wiki/Q7644068","display_name":"Supernumerary","level":2,"score":0.6702316999435425},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.6490278840065002},{"id":"https://openalex.org/C105702510","wikidata":"https://www.wikidata.org/wiki/Q514","display_name":"Anatomy","level":1,"score":0.1905963122844696}],"mesh":[{"descriptor_ui":"D002648","descriptor_name":"Child","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002675","descriptor_name":"Child, Preschool","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002904","descriptor_name":"Chromosomes, Human, 21-22 and Y","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002906","descriptor_name":"Chromosomes, Human, 6-12 and X","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004374","descriptor_name":"Ductus Arteriosus, Patent","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006330","descriptor_name":"Heart Defects, Congenital","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006344","descriptor_name":"Heart Septal Defects, Atrial","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006345","descriptor_name":"Heart Septal Defects, Ventricular","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014178","descriptor_name":"Translocation, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D014314","descriptor_name":"Trisomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1111/j.1399-0004.1986.tb01254.x","doi":"https://doi.org/10.1111/j.1399-0004.1986.tb01254.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1399-0004.1986.tb01254.x","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:3720005","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3720005","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":0.9763000011444092,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":40,"referenced_works":["https://openalex.org/W81309273","https://openalex.org/W962176005","https://openalex.org/W1498288956","https://openalex.org/W1519911583","https://openalex.org/W1965301932","https://openalex.org/W1965478935","https://openalex.org/W1973012075","https://openalex.org/W1978441424","https://openalex.org/W1980102810","https://openalex.org/W1986070224","https://openalex.org/W1994735411","https://openalex.org/W2001044558","https://openalex.org/W2004912266","https://openalex.org/W2007775991","https://openalex.org/W2015743971","https://openalex.org/W2019456267","https://openalex.org/W2021200461","https://openalex.org/W2031593637","https://openalex.org/W2044528514","https://openalex.org/W2049049710","https://openalex.org/W2053069343","https://openalex.org/W2059559325","https://openalex.org/W2066485125","https://openalex.org/W2070028692","https://openalex.org/W2073214780","https://openalex.org/W2075875102","https://openalex.org/W2080154109","https://openalex.org/W2082442156","https://openalex.org/W2088693618","https://openalex.org/W2120639458","https://openalex.org/W2128652399","https://openalex.org/W2146325546","https://openalex.org/W2150572059","https://openalex.org/W2334619351","https://openalex.org/W2416366670","https://openalex.org/W2417787629","https://openalex.org/W2576770824","https://openalex.org/W6678363716","https://openalex.org/W6699067724","https://openalex.org/W6841339907"],"related_works":["https://openalex.org/W4293179787","https://openalex.org/W2170074540","https://openalex.org/W2282564520","https://openalex.org/W3120119821","https://openalex.org/W4240431542","https://openalex.org/W4400542532","https://openalex.org/W2108890594","https://openalex.org/W2473272203","https://openalex.org/W3011807627","https://openalex.org/W171707515"],"abstract_inverted_index":{"Congenital":[0],"heart":[1],"disease":[2,33],"occurred":[3],"in":[4],"62%":[5],"of":[6,10,43],"the":[7],"reported":[8],"cases":[9],"supernumerary":[11],"der(22)":[12],"syndrome.":[13],"These":[14],"were":[15],"most":[16],"commonly":[17],"acyanotic":[18],"lesions":[19],"such":[20],"as":[21],"atrial":[22],"septal":[23,26],"defect,":[24],"ventricular":[25],"defect":[27],"or":[28],"patent":[29],"ductus":[30],"arteriosus.":[31],"Heart":[32],"did":[34],"not,":[35],"however,":[36],"appear":[37],"to":[38],"be":[39],"a":[40],"major":[41],"determinant":[42],"survival.":[44]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2021,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2017,"cited_by_count":2},{"year":2015,"cited_by_count":3},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
