{"id":"https://openalex.org/W2087816616","doi":"https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z","title":"Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome","display_name":"Variation in microdeletions of the cyclic AMP-responsive element-binding protein gene at chromosome band 16p13.3 in the Rubinstein-Taybi syndrome","publication_year":2000,"publication_date":"2000-01-03","ids":{"openalex":"https://openalex.org/W2087816616","doi":"https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z","mag":"2087816616","pmid":"https://pubmed.ncbi.nlm.nih.gov/10602114"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z","doi":"https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"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":"American Journal of Medical 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/A5108218137","display_name":"Ruthann I. Blough","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Ruthann I. Blough","raw_affiliation_strings":["Children's Hospital Research Foundation, Division of Human Genetics, Cincinnati, OH 45229-1933, USA. blour0@chmcc.org","Children's Hospital Research Foundation, Division of Human Genetics, Cincinnati, Ohio"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital Research Foundation, Division of Human Genetics, Cincinnati, OH 45229-1933, USA. blour0@chmcc.org","institution_ids":["https://openalex.org/I1285204247"]},{"raw_affiliation_string":"Children's Hospital Research Foundation, Division of Human Genetics, Cincinnati, Ohio","institution_ids":["https://openalex.org/I1285204247"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016653755","display_name":"Fred Petrij","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]},{"id":"https://openalex.org/I913958620","display_name":"Erasmus University Rotterdam","ror":"https://ror.org/057w15z03","country_code":"NL","type":"education","lineage":["https://openalex.org/I913958620"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Fred Petrij","raw_affiliation_strings":["Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands","Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands","institution_ids":["https://openalex.org/I913958620"]},{"raw_affiliation_string":"Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111742074","display_name":"Johannes G. Dauwerse","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800006345","display_name":"Leiden University Medical Center","ror":"https://ror.org/05xvt9f17","country_code":"NL","type":"funder","lineage":["https://openalex.org/I2800006345"]}],"countries":["NL"],"is_corresponding":false,"raw_author_name":"Johannes G. Dauwerse","raw_affiliation_strings":["Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands","institution_ids":["https://openalex.org/I2800006345"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5025958525","display_name":"Athena M. Cherry","orcid":"https://orcid.org/0000-0002-8040-9679","observed_orcids":["https://orcid.org/0000-0002-8040-9679"]},"institutions":[{"id":"https://openalex.org/I4210137306","display_name":"Stanford Medicine","ror":"https://ror.org/03mtd9a03","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]},{"id":"https://openalex.org/I97018004","display_name":"Stanford University","ror":"https://ror.org/00f54p054","country_code":"US","type":"education","lineage":["https://openalex.org/I97018004"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Athena Milatovich-Cherry","raw_affiliation_strings":["Stanford University Hospital, Stanford, California"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Stanford University Hospital, Stanford, California","institution_ids":["https://openalex.org/I4210137306","https://openalex.org/I97018004"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108422172","display_name":"Lester Weiss","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2803043754","display_name":"Henry Ford Hospital","ror":"https://ror.org/0193sb042","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I154057602","https://openalex.org/I2803043754"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Lester Weiss","raw_affiliation_strings":["Henry Ford Hospital, Detroit, Michigan"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Henry Ford Hospital, Detroit, Michigan","institution_ids":["https://openalex.org/I2803043754"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041349811","display_name":"Howard M. Saal","orcid":"https://orcid.org/0000-0002-0277-4777","observed_orcids":["https://orcid.org/0000-0002-0277-4777"]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Howard M. Saal","raw_affiliation_strings":["Children's Hospital Research Foundation, Division of Human Genetics, Cincinnati, Ohio"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital Research Foundation, Division of Human Genetics, Cincinnati, Ohio","institution_ids":["https://openalex.org/I1285204247"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5082623032","display_name":"Jack H. Rubinstein","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1285204247","display_name":"Cincinnati Children's Hospital Medical Center","ror":"https://ror.org/01hcyya48","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1285204247"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jack H. Rubinstein","raw_affiliation_strings":["Children's Hospital Medical Center, University Affiliated Cincinnati Center for Developmental Disorders, Cincinnati, Ohio"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Children's Hospital Medical Center, University Affiliated Cincinnati Center for Developmental Disorders, Cincinnati, Ohio","institution_ids":["https://openalex.org/I1285204247"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":6,"corresponding_author_ids":["https://openalex.org/A5108218137"],"corresponding_institution_ids":["https://openalex.org/I1285204247"],"apc_list":null,"apc_paid":null,"fwci":2.2276,"has_fulltext":false,"cited_by_count":67,"citation_normalized_percentile":{"value":0.87375998,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":98},"biblio":{"volume":"90","issue":"1","first_page":"29","last_page":"34"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.6518999934196472,"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":0.6518999934196472,"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/T13107","display_name":"Congenital limb and hand anomalies","score":0.2896000146865845,"subfield":{"id":"https://openalex.org/subfields/1309","display_name":"Developmental 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/T11642","display_name":"Genomics and Rare Diseases","score":0.03629999980330467,"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/rubinstein-taybi-syndrome","display_name":"Rubinstein-Taybi syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/creb-binding-protein","display_name":"CREB-binding protein","score":0.8740000128746033},{"id":"https://openalex.org/keywords/microdeletion","display_name":"microdeletion","score":0.8709999918937683},{"id":"https://openalex.org/keywords/chromosome-16p13-3","display_name":"chromosome 16p13.3","score":0.949999988079071},{"id":"https://openalex.org/keywords/breakpoint-mapping","display_name":"breakpoint mapping","score":0.6949999928474426},{"id":"https://openalex.org/keywords/haploinsufficiency","display_name":"haploinsufficiency","score":0.8889999985694885},{"id":"https://openalex.org/keywords/interstitial-deletion","display_name":"interstitial deletion","score":0.7160000205039978},{"id":"https://openalex.org/keywords/phenotypic-variation","display_name":"phenotypic variability","score":0.5950000286102295}],"concepts":[{"id":"https://openalex.org/C35101798","wikidata":"https://www.wikidata.org/wiki/Q414491","display_name":"Cosmid","level":3,"score":0.9734522104263306},{"id":"https://openalex.org/C2779253643","wikidata":"https://www.wikidata.org/wiki/Q666980","display_name":"Rubinstein\u2013Taybi syndrome","level":2,"score":0.7391512989997864},{"id":"https://openalex.org/C206936463","wikidata":"https://www.wikidata.org/wiki/Q634179","display_name":"Breakpoint","level":4,"score":0.7219348549842834},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7013282775878906},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.624321699142456},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5825079679489136},{"id":"https://openalex.org/C7602840","wikidata":"https://www.wikidata.org/wiki/Q746284","display_name":"Gene duplication","level":3,"score":0.5385493040084839},{"id":"https://openalex.org/C2777542201","wikidata":"https://www.wikidata.org/wiki/Q1336182","display_name":"Fluorescence in situ hybridization","level":4,"score":0.5323277711868286},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.5322371125221252},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5202235579490662},{"id":"https://openalex.org/C122735190","wikidata":"https://www.wikidata.org/wiki/Q715789","display_name":"Gene mapping","level":4,"score":0.46058720350265503},{"id":"https://openalex.org/C55548728","wikidata":"https://www.wikidata.org/wiki/Q1465102","display_name":"Gene dosage","level":4,"score":0.4135296642780304},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.09159523248672485}],"mesh":[{"descriptor_ui":"D002885","descriptor_name":"Chromosomes, Human, Pair 16","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":"D005838","descriptor_name":"Genotype","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008677","descriptor_name":"Metaphase","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D010641","descriptor_name":"Phenotype","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012415","descriptor_name":"Rubinstein-Taybi Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012415","descriptor_name":"Rubinstein-Taybi Syndrome","qualifier_ui":"Q000503","qualifier_name":"physiopathology","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017362","descriptor_name":"Cyclic AMP Response Element-Binding Protein","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017384","descriptor_name":"Sequence Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"doi:10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z","doi":"https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(20000103)90:1<29::aid-ajmg6>3.0.co;2-z","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-1"],"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":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:10602114","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10602114","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 medical genetics","raw_type":"Journal Article"},{"id":"pmh:eur:oai:pure.eur.nl:publications/28a4ce59-6696-4a64-ae2f-c1d2739398c4","doi":null,"is_oa":false,"landing_page_url":"https://pure.eur.nl/en/publications/28a4ce59-6696-4a64-ae2f-c1d2739398c4","pdf_url":null,"source":{"id":"https://openalex.org/S4306401266","display_name":"EUR Research Repository (Erasmus University Rotterdam)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I913958620","host_organization_name":"Erasmus University Rotterdam","host_organization_lineage":["https://openalex.org/I913958620"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"American Journal of Medical Genetics, 90, 29 - 34. Wiley-Liss Inc.","raw_type":"info:eu-repo/semantics/article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9476000070571899,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":12,"referenced_works":["https://openalex.org/W1536818957","https://openalex.org/W1573773675","https://openalex.org/W1979749428","https://openalex.org/W2002043550","https://openalex.org/W2003063655","https://openalex.org/W2035470829","https://openalex.org/W2045679232","https://openalex.org/W2047897890","https://openalex.org/W2058389782","https://openalex.org/W2072924157","https://openalex.org/W2081144398","https://openalex.org/W2102267268"],"related_works":["https://openalex.org/W2102267268","https://openalex.org/W2122501673","https://openalex.org/W2010986105","https://openalex.org/W1997324083","https://openalex.org/W2241497297","https://openalex.org/W7132825339","https://openalex.org/W2344097523","https://openalex.org/W1994588694","https://openalex.org/W2321388059","https://openalex.org/W2016674993"],"abstract_inverted_index":{"Most":[0],"reported":[1,92],"microdeletions":[2],"of":[3,32,44,66,71,80,118,143,182,188,191,200,202,213,238],"the":[4,10,29,33,39,42,51,76,111,115,119,133,136,146,158,192,197,209,214,224,235,241],"CREB-binding":[5],"protein":[6],"(CBP)":[7],"gene":[8,53,121,194,204,217,243],"in":[9,18,93,157,205,227],"Rubinstein-Taybi":[11],"syndrome":[12],"(RTS)":[13],"were":[14,105,264],"detected":[15],"by":[16,85,245],"fluorescence":[17],"situ":[19],"hybridization":[20],"(FISH)":[21],"with":[22,62,89,166],"a":[23,69,127,141,183,267],"single":[24],"cosmid":[25,168],"probe":[26],"specific":[27],"to":[28,37,196,249],"3'":[30,116,137,159,225],"region":[31,117,138,148,160,218,226],"gene.":[34,78],"In":[35],"order":[36],"test":[38],"hypothesis":[40],"that":[41,74,96,234],"rate":[43,237],"microdeletion-positive":[45],"cases":[46],"would":[47],"be":[48,250],"greater":[49],"if":[50],"entire":[52,215],"was":[54,108,175],"evaluated,":[55],"we":[56],"performed":[57,176],"FISH":[58,86,246],"on":[59,177],"66":[60,81],"patients":[61,82,263],"an":[63,154],"established":[64,251],"diagnosis":[65],"RTS,":[67],"using":[68],"panel":[70],"five":[72],"cosmids":[73],"span":[75],"CBP":[77,120,129,193,216,242],"Five":[79],"had":[83],"deletions":[84,104,125,190,220],"(9%),":[87],"consistent":[88],"those":[90],"rates":[91],"various":[94],"series":[95],"ranged":[97],"between":[98,256],"3-25%.":[99],"Among":[100],"our":[101],"cases,":[102],"different":[103],"observed;":[106],"one":[107],"deleted":[109],"for":[110,211,219,270],"5'":[112,134,147,185],"but":[113,145],"not":[114],"(case":[122,139,161],"055).":[123],"Other":[124],"included":[126],"total":[128],"deletion":[130,142,156,186],"extending":[131],"from":[132],"through":[135],"017),":[140],"all":[144],"(cases":[149],"006":[150],"and":[151,153,169,187,207,261],"060),":[152],"interstitial":[155,189],"028).":[162],"Fine":[163],"breakpoint":[164],"mapping":[165],"additional":[167],"yeast":[170],"artificial":[171],"chromosome":[172],"(YAC)":[173],"constructs":[174],"these":[178],"patients.":[179,229],"The":[180],"findings":[181],"partial":[184,257],"add":[195],"known":[198],"spectrum":[199],"mutations":[201],"this":[203],"RTS":[206,228],"demonstrate":[208],"need":[210],"evaluation":[212],"rather":[221],"than":[222],"only":[223],"These":[230],"results":[231],"further":[232],"suggest":[233],"true":[236],"microdeletion":[239],"across":[240],"detectable":[244],"has":[247],"yet":[248],"firmly.":[252],"No":[253],"phenotypic":[254],"differences":[255],"deletion,":[258,260],"complete":[259],"nondeletion":[262],"observed,":[265],"supporting":[266],"haploinsufficiency":[268],"model":[269],"RSTS.":[271]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2023,"cited_by_count":1},{"year":2022,"cited_by_count":2},{"year":2020,"cited_by_count":3},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":2},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":5},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":6},{"year":2012,"cited_by_count":3}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}
