{"id":"https://openalex.org/W2040808583","doi":"https://doi.org/10.1016/s0022-3476(82)80116-9","title":"The association of the DiGeorge anomalad with partial monosomy of chromosome 22","display_name":"The association of the DiGeorge anomalad with partial monosomy of chromosome 22","publication_year":1982,"publication_date":"1982-08-01","ids":{"openalex":"https://openalex.org/W2040808583","doi":"https://doi.org/10.1016/s0022-3476(82)80116-9","mag":"2040808583","pmid":"https://pubmed.ncbi.nlm.nih.gov/7097410"},"language":"en","primary_location":{"id":"doi:10.1016/s0022-3476(82)80116-9","doi":"https://doi.org/10.1016/s0022-3476(82)80116-9","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0022-3476(82)80116-9","pdf_url":null,"source":{"id":"https://openalex.org/S3774022","display_name":"The Journal of Pediatrics","issn_l":"0022-3476","issn":["0022-3476","1085-8695","1097-6833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Pediatrics","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/A5047295983","display_name":"Richard I. Kelley","orcid":"https://orcid.org/0000-0002-5508-7145","observed_orcids":["https://orcid.org/0000-0002-5508-7145"]},"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/I4210160682","display_name":"St. Christopher's Hospital for Children","ror":"https://ror.org/05t3ett24","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210160682"]},{"id":"https://openalex.org/I84392919","display_name":"Temple University","ror":"https://ror.org/00kx1jb78","country_code":"US","type":"education","lineage":["https://openalex.org/I84392919"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Richard I. Kelley","raw_affiliation_strings":["Clinical Genetics Center, Children's Hospital of Philadelphia, the Department of Pediatrics, Philadelphia, Pa. USA","Department of Laboratories, St. Christopher's Hospital for Children, Philadelphia, Pa. USA","Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pa. USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Center, Children's Hospital of Philadelphia, the Department of Pediatrics, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Department of Laboratories, St. Christopher's Hospital for Children, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I4210160682"]},{"raw_affiliation_string":"Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I84392919"]}]},{"author_position":"middle","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/I4210160682","display_name":"St. Christopher's Hospital for Children","ror":"https://ror.org/05t3ett24","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210160682"]},{"id":"https://openalex.org/I84392919","display_name":"Temple University","ror":"https://ror.org/00kx1jb78","country_code":"US","type":"education","lineage":["https://openalex.org/I84392919"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Elaine H. Zackai","raw_affiliation_strings":["Clinical Genetics Center, Children's Hospital of Philadelphia, the Department of Pediatrics, Philadelphia, Pa. USA","Department of Laboratories, St. Christopher's Hospital for Children, Philadelphia, Pa. USA","Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pa. USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Center, Children's Hospital of Philadelphia, the Department of Pediatrics, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Department of Laboratories, St. Christopher's Hospital for Children, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I4210160682"]},{"raw_affiliation_string":"Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I84392919"]}]},{"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/I4210160682","display_name":"St. Christopher's Hospital for Children","ror":"https://ror.org/05t3ett24","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210160682"]},{"id":"https://openalex.org/I84392919","display_name":"Temple University","ror":"https://ror.org/00kx1jb78","country_code":"US","type":"education","lineage":["https://openalex.org/I84392919"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Beverly S. Emanuel","raw_affiliation_strings":["Clinical Genetics Center, Children's Hospital of Philadelphia, the Department of Pediatrics, Philadelphia, Pa. USA","Department of Laboratories, St. Christopher's Hospital for Children, Philadelphia, Pa. USA","Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pa. USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Center, Children's Hospital of Philadelphia, the Department of Pediatrics, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Department of Laboratories, St. Christopher's Hospital for Children, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I4210160682"]},{"raw_affiliation_string":"Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I84392919"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085478971","display_name":"Mildred L. Kistenmacher","orcid":null,"observed_orcids":[]},"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/I4210160682","display_name":"St. Christopher's Hospital for Children","ror":"https://ror.org/05t3ett24","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210160682"]},{"id":"https://openalex.org/I84392919","display_name":"Temple University","ror":"https://ror.org/00kx1jb78","country_code":"US","type":"education","lineage":["https://openalex.org/I84392919"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Mildred Kistenmacher","raw_affiliation_strings":["Clinical Genetics Center, Children's Hospital of Philadelphia, the Department of Pediatrics, Philadelphia, Pa. USA","Department of Laboratories, St. Christopher's Hospital for Children, Philadelphia, Pa. USA","Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pa. USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Center, Children's Hospital of Philadelphia, the Department of Pediatrics, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Department of Laboratories, St. Christopher's Hospital for Children, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I4210160682"]},{"raw_affiliation_string":"Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I84392919"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109203133","display_name":"Frank Greenberg","orcid":null,"observed_orcids":[]},"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/I4210160682","display_name":"St. Christopher's Hospital for Children","ror":"https://ror.org/05t3ett24","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210160682"]},{"id":"https://openalex.org/I84392919","display_name":"Temple University","ror":"https://ror.org/00kx1jb78","country_code":"US","type":"education","lineage":["https://openalex.org/I84392919"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Frank Greenberg","raw_affiliation_strings":["Clinical Genetics Center, Children's Hospital of Philadelphia, the Department of Pediatrics, Philadelphia, Pa. USA","Department of Laboratories, St. Christopher's Hospital for Children, Philadelphia, Pa. USA","Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pa. USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Center, Children's Hospital of Philadelphia, the Department of Pediatrics, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Department of Laboratories, St. Christopher's Hospital for Children, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I4210160682"]},{"raw_affiliation_string":"Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I84392919"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5111448063","display_name":"Hope H. Punnett","orcid":null,"observed_orcids":[]},"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/I4210160682","display_name":"St. Christopher's Hospital for Children","ror":"https://ror.org/05t3ett24","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210160682"]},{"id":"https://openalex.org/I84392919","display_name":"Temple University","ror":"https://ror.org/00kx1jb78","country_code":"US","type":"education","lineage":["https://openalex.org/I84392919"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hope H. Punnett","raw_affiliation_strings":["Clinical Genetics Center, Children's Hospital of Philadelphia, the Department of Pediatrics, Philadelphia, Pa. USA","Department of Laboratories, St. Christopher's Hospital for Children, Philadelphia, Pa. USA","Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pa. USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Clinical Genetics Center, Children's Hospital of Philadelphia, the Department of Pediatrics, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I1335321130"]},{"raw_affiliation_string":"Department of Laboratories, St. Christopher's Hospital for Children, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I4210160682"]},{"raw_affiliation_string":"Department of Pediatrics, Temple University School of Medicine, Philadelphia, Pa. USA","institution_ids":["https://openalex.org/I84392919"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5047295983"],"corresponding_institution_ids":["https://openalex.org/I1335321130","https://openalex.org/I4210160682","https://openalex.org/I84392919"],"apc_list":{"value":4570,"currency":"USD","value_usd":4570},"apc_paid":null,"fwci":2.6394,"has_fulltext":false,"cited_by_count":194,"citation_normalized_percentile":{"value":0.89992614,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"101","issue":"2","first_page":"197","last_page":"200"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.8881999850273132,"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":0.8881999850273132,"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/T11725","display_name":"Immunodeficiency and Autoimmune Disorders","score":0.09120000153779984,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.004800000227987766,"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/22q11-2-deletion-syndrome","display_name":"22q11.2 deletion syndrome","score":0.8500000238418579},{"id":"https://openalex.org/keywords/chromosome-22-deletion","display_name":"chromosome 22 deletion","score":0.8309999704360962},{"id":"https://openalex.org/keywords/pericentromeric-regions","display_name":"pericentromeric regions","score":0.7379999756813049},{"id":"https://openalex.org/keywords/translocation","display_name":"translocation","score":0.5529999732971191},{"id":"https://openalex.org/keywords/familial-recurrence","display_name":"familial recurrence","score":0.42800000309944153},{"id":"https://openalex.org/keywords/congenital-malformations","display_name":"congenital malformations","score":0.44699999690055847}],"concepts":[{"id":"https://openalex.org/C2779688345","wikidata":"https://www.wikidata.org/wiki/Q525642","display_name":"DiGeorge syndrome","level":2,"score":0.9500551223754883},{"id":"https://openalex.org/C2779142324","wikidata":"https://www.wikidata.org/wiki/Q3321288","display_name":"Monosomy","level":5,"score":0.8354904651641846},{"id":"https://openalex.org/C54815482","wikidata":"https://www.wikidata.org/wiki/Q753805","display_name":"Chromosome 22","level":4,"score":0.7181554436683655},{"id":"https://openalex.org/C134925867","wikidata":"https://www.wikidata.org/wiki/Q186380","display_name":"Autosome","level":4,"score":0.7013282775878906},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.6276655197143555},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5523359775543213},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.5428225994110107},{"id":"https://openalex.org/C23161992","wikidata":"https://www.wikidata.org/wiki/Q2922301","display_name":"Hum","level":3,"score":0.42980140447616577},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.2791692018508911},{"id":"https://openalex.org/C53226629","wikidata":"https://www.wikidata.org/wiki/Q189967","display_name":"Karyotype","level":4,"score":0.2725033760070801},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.12410762906074524},{"id":"https://openalex.org/C554144382","wikidata":"https://www.wikidata.org/wiki/Q213156","display_name":"Performance art","level":2,"score":0.0},{"id":"https://openalex.org/C142362112","wikidata":"https://www.wikidata.org/wiki/Q735","display_name":"Art","level":0,"score":0.0},{"id":"https://openalex.org/C52119013","wikidata":"https://www.wikidata.org/wiki/Q50637","display_name":"Art history","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002904","descriptor_name":"Chromosomes, Human, 21-22 and Y","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004062","descriptor_name":"DiGeorge Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D007153","descriptor_name":"Immunologic Deficiency Syndromes","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007231","descriptor_name":"Infant, Newborn","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","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":false}],"locations_count":2,"locations":[{"id":"doi:10.1016/s0022-3476(82)80116-9","doi":"https://doi.org/10.1016/s0022-3476(82)80116-9","is_oa":false,"landing_page_url":"https://doi.org/10.1016/s0022-3476(82)80116-9","pdf_url":null,"source":{"id":"https://openalex.org/S3774022","display_name":"The Journal of Pediatrics","issn_l":"0022-3476","issn":["0022-3476","1085-8695","1097-6833"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-scientific","cwts-core","dongbi-a","doyens","jufo-2","ki-jl-2","medline","norway-2","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320990","host_organization_name":"Elsevier BV","host_organization_lineage":["https://openalex.org/P4310320990"],"host_organization_lineage_names":["Elsevier BV"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Pediatrics","raw_type":"journal-article"},{"id":"pmid:7097410","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7097410","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":"The Journal of pediatrics","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9537000060081482,"display_name":"Good health and well-being","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":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":22,"referenced_works":["https://openalex.org/W914275517","https://openalex.org/W1584049223","https://openalex.org/W2003297134","https://openalex.org/W2021339951","https://openalex.org/W2025944918","https://openalex.org/W2033221663","https://openalex.org/W2034372103","https://openalex.org/W2039934377","https://openalex.org/W2048758913","https://openalex.org/W2054619579","https://openalex.org/W2062386250","https://openalex.org/W2067441564","https://openalex.org/W2071028855","https://openalex.org/W2109270556","https://openalex.org/W2126336201","https://openalex.org/W2404391832","https://openalex.org/W2412062386","https://openalex.org/W2424822860","https://openalex.org/W2992955180","https://openalex.org/W4382239290","https://openalex.org/W6624190567","https://openalex.org/W6655615368"],"related_works":["https://openalex.org/W2471837772","https://openalex.org/W2039934377","https://openalex.org/W2160527718","https://openalex.org/W198877691","https://openalex.org/W2112863191","https://openalex.org/W2067786165","https://openalex.org/W1969912702","https://openalex.org/W1968590317","https://openalex.org/W1995130255","https://openalex.org/W1554152197"],"abstract_inverted_index":null,"counts_by_year":[{"year":2026,"cited_by_count":1},{"year":2025,"cited_by_count":3},{"year":2024,"cited_by_count":1},{"year":2023,"cited_by_count":3},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":1},{"year":2020,"cited_by_count":2},{"year":2019,"cited_by_count":1},{"year":2018,"cited_by_count":4},{"year":2017,"cited_by_count":3},{"year":2016,"cited_by_count":4},{"year":2015,"cited_by_count":4},{"year":2014,"cited_by_count":5},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}