{"id":"https://openalex.org/W29518802","doi":null,"title":"Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.","display_name":"Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions.","publication_year":1991,"publication_date":"1991-02-01","ids":{"openalex":"https://openalex.org/W29518802","mag":"29518802","pmid":"https://pubmed.ncbi.nlm.nih.gov/1671319","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1683002"},"language":"en","primary_location":{"id":"pmid:1671319","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1671319","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":"American journal of human genetics","raw_type":"Journal Article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["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/A5074772421","display_name":"Michael James Dixon","orcid":"https://orcid.org/0000-0001-8346-6671","observed_orcids":["https://orcid.org/0000-0001-8346-6671"]},"institutions":[{"id":"https://openalex.org/I28407311","display_name":"University of Manchester","ror":"https://ror.org/027m9bs27","country_code":"GB","type":"education","lineage":["https://openalex.org/I28407311"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M J Dixon","raw_affiliation_strings":["Department of Cell and Structural Biology, University of Manchester, England","Department of Cell & Structural Biology, University of Manchester, England"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Cell and Structural Biology, University of Manchester, England","institution_ids":["https://openalex.org/I28407311"]},{"raw_affiliation_string":"Department of Cell & Structural Biology, University of Manchester, England","institution_ids":["https://openalex.org/I28407311"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5044903760","display_name":"Eric Haan","orcid":"https://orcid.org/0000-0002-7310-5124","observed_orcids":["https://orcid.org/0000-0002-7310-5124"]},"institutions":[{"id":"https://openalex.org/I2801308011","display_name":"Women's and Children's Hospital","ror":"https://ror.org/03kwrfk72","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801308011"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"E Haan","raw_affiliation_strings":["Women's and Children's Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Women's and Children's Hospital","institution_ids":["https://openalex.org/I2801308011"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085749904","display_name":"Elizabeth G. Baker","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801308011","display_name":"Women's and Children's Hospital","ror":"https://ror.org/03kwrfk72","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801308011"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"E Baker","raw_affiliation_strings":["Women's and Children's Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Women's and Children's Hospital","institution_ids":["https://openalex.org/I2801308011"]}]},{"author_position":"middle","author":{"id":null,"display_name":"D David","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801308011","display_name":"Women's and Children's Hospital","ror":"https://ror.org/03kwrfk72","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801308011"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"D David","raw_affiliation_strings":["Women's and Children's Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Women's and Children's Hospital","institution_ids":["https://openalex.org/I2801308011"]}]},{"author_position":"middle","author":{"id":null,"display_name":"N McKenzie","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I47508984","display_name":"Imperial College London","ror":"https://ror.org/041kmwe10","country_code":"GB","type":"education","lineage":["https://openalex.org/I47508984"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"N McKenzie","raw_affiliation_strings":["Imperial College London,#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Imperial College London,#TAB#","institution_ids":["https://openalex.org/I47508984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113996764","display_name":"R. Williamson","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I47508984","display_name":"Imperial College London","ror":"https://ror.org/041kmwe10","country_code":"GB","type":"education","lineage":["https://openalex.org/I47508984"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"R Williamson","raw_affiliation_strings":["Imperial College London,#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Imperial College London,#TAB#","institution_ids":["https://openalex.org/I47508984"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109096475","display_name":"J.C. Mulley","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801308011","display_name":"Women's and Children's Hospital","ror":"https://ror.org/03kwrfk72","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801308011"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"J Mulley","raw_affiliation_strings":["Women's and Children's Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Women's and Children's Hospital","institution_ids":["https://openalex.org/I2801308011"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111441698","display_name":"Martin Farrall","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I47508984","display_name":"Imperial College London","ror":"https://ror.org/041kmwe10","country_code":"GB","type":"education","lineage":["https://openalex.org/I47508984"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"M Farrall","raw_affiliation_strings":["Imperial College London,#TAB#"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Imperial College London,#TAB#","institution_ids":["https://openalex.org/I47508984"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5061371974","display_name":"David Frederick Callen","orcid":"https://orcid.org/0000-0002-6189-9991","observed_orcids":["https://orcid.org/0000-0002-6189-9991"]},"institutions":[{"id":"https://openalex.org/I2801308011","display_name":"Women's and Children's Hospital","ror":"https://ror.org/03kwrfk72","country_code":"AU","type":"healthcare","lineage":["https://openalex.org/I2801308011"]}],"countries":["AU"],"is_corresponding":false,"raw_author_name":"D Callen","raw_affiliation_strings":["Women's and Children's Hospital"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Women's and Children's Hospital","institution_ids":["https://openalex.org/I2801308011"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":3.8054,"has_fulltext":false,"cited_by_count":25,"citation_normalized_percentile":{"value":0.92295769,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":87,"max":93},"biblio":{"volume":"48","issue":"2","first_page":"274","last_page":"80"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.8012999892234802,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T11679","display_name":"Craniofacial Disorders and Treatments","score":0.8012999892234802,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.06400000303983688,"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":0.0544000007212162,"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/treacher-collins-syndrome","display_name":"Treacher Collins syndrome","score":1.0},{"id":"https://openalex.org/keywords/translocation-breakpoints","display_name":"translocation breakpoints","score":0.4690000116825104},{"id":"https://openalex.org/keywords/linkage-analysis","display_name":"linkage analysis","score":0.5960000157356262},{"id":"https://openalex.org/keywords/craniofacial-development","display_name":"craniofacial development","score":0.8539999723434448}],"concepts":[{"id":"https://openalex.org/C138626823","wikidata":"https://www.wikidata.org/wiki/Q916504","display_name":"Chromosomal translocation","level":3,"score":0.8431823253631592},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7963776588439941},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.7755229473114014},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.676990807056427},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.5729579925537109},{"id":"https://openalex.org/C122735190","wikidata":"https://www.wikidata.org/wiki/Q715789","display_name":"Gene mapping","level":4,"score":0.5197758078575134},{"id":"https://openalex.org/C2779076563","wikidata":"https://www.wikidata.org/wiki/Q744790","display_name":"Treacher Collins syndrome","level":3,"score":0.5040258765220642},{"id":"https://openalex.org/C188280979","wikidata":"https://www.wikidata.org/wiki/Q911125","display_name":"Human leukocyte antigen","level":3,"score":0.48284488916397095},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.47500717639923096},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.3916272521018982},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.22043633460998535},{"id":"https://openalex.org/C2781245598","wikidata":"https://www.wikidata.org/wiki/Q5182134","display_name":"Craniofacial","level":2,"score":0.21555611491203308},{"id":"https://openalex.org/C147483822","wikidata":"https://www.wikidata.org/wiki/Q103537","display_name":"Antigen","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D002871","descriptor_name":"Chromosome Banding","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002885","descriptor_name":"Chromosomes, Human, Pair 16","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002896","descriptor_name":"Chromosomes, Human, Pair 6","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004247","descriptor_name":"DNA","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":"D007621","descriptor_name":"Karyotyping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008126","descriptor_name":"Lod Score","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008342","descriptor_name":"Mandibulofacial Dysostosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009693","descriptor_name":"Nucleic Acid Hybridization","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012150","descriptor_name":"Polymorphism, Restriction Fragment Length","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}],"locations_count":2,"locations":[{"id":"pmid:1671319","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1671319","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":"American journal of human genetics","raw_type":"Journal Article"},{"id":"mag:29518802","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1671319","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":null,"is_accepted":false,"is_published":false,"raw_source_name":"PubMed","raw_type":null}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8371999859809875}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":22,"referenced_works":["https://openalex.org/W187597364","https://openalex.org/W1843971853","https://openalex.org/W1980460632","https://openalex.org/W1992767640","https://openalex.org/W1995475316","https://openalex.org/W2008417674","https://openalex.org/W2014669590","https://openalex.org/W2017428806","https://openalex.org/W2034102931","https://openalex.org/W2036262082","https://openalex.org/W2038330976","https://openalex.org/W2038718616","https://openalex.org/W2057283906","https://openalex.org/W2068910963","https://openalex.org/W2075634512","https://openalex.org/W2078129053","https://openalex.org/W2078543513","https://openalex.org/W2086417389","https://openalex.org/W2087822709","https://openalex.org/W2089695879","https://openalex.org/W2157216734","https://openalex.org/W2268628235"],"related_works":["https://openalex.org/W1732149070","https://openalex.org/W2087952980","https://openalex.org/W2051554846","https://openalex.org/W2145609982","https://openalex.org/W2162299910","https://openalex.org/W1603192039","https://openalex.org/W143609846","https://openalex.org/W1984454710","https://openalex.org/W2035399864","https://openalex.org/W203710175"],"abstract_inverted_index":{"Treacher":[0],"Collins":[1],"syndrome":[2],"(TCS)":[3],"is":[4],"an":[5],"autosomal":[6],"dominant":[7],"defect":[8],"of":[9,48],"craniofacial":[10],"development":[11],"which":[12,35],"has":[13],"not":[14,131],"been":[15],"chromosomally":[16],"localized.":[17],"We":[18],"have":[19,27],"identified":[20],"a":[21,31,125],"mother":[22],"and":[23,29,74,79,85,88,97],"two":[24],"children":[25],"who":[26,129],"TCS":[28,41,104,112],"also":[30],"balanced":[32],"translocation":[33,50,118],"t(6;16)(p21.31;p13.11),":[34],"suggested":[36],"the":[37,40,49,64,69,111,133,138],"possibility":[38],"that":[39],"locus":[42,113],"might":[43],"be":[44],"located":[45],"at":[46],"one":[47],"breakpoints.":[51,119],"These":[52,120],"were":[53,122],"defined":[54,67],"by":[55,68],"in-situ":[56],"hybridization":[57],"as":[58],"6p21.31":[59],"(by":[60,81],"using":[61,82,92],"loci":[62],"in":[63,101],"HLA":[65],"complex":[66],"probes":[70,83,96,100],"p45.1DP":[71],"beta":[72],"003/HLA-DPB2":[73],"pRS5.10/HLA":[75],"class":[76],"I":[77],"chain)":[78],"16p13.11":[80],"pACHF1.3.2/D16S8":[84],"VK45/D16S131).":[86],"Pairwise":[87],"multipoint":[89],"linkage":[90],"analysis":[91],"localized":[93],"chromosome":[94,98],"6":[95],"16":[99],"12":[102],"unrelated":[103],"families":[105],"with":[106],"multiple":[107],"affected":[108,127],"siblings":[109],"excluded":[110],"from":[114],"proximity":[115],"to":[116,137],"both":[117],"data":[121],"confirmed":[123],"when":[124],"third":[126],"child,":[128],"did":[130],"exhibit":[132],"translocation,":[134],"was":[135],"born":[136],"mother.":[139]},"counts_by_year":[{"year":2021,"cited_by_count":1},{"year":2016,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}