{"id":"https://openalex.org/W55832335","doi":null,"title":"22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes.","display_name":"22q11 deletion in DGS/VCFS monozygotic twins with discordant phenotypes.","publication_year":1999,"publication_date":"1999-01-01","ids":{"openalex":"https://openalex.org/W55832335","mag":"55832335","pmid":"https://pubmed.ncbi.nlm.nih.gov/10191428"},"language":"en","primary_location":{"id":"pmid:10191428","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10191428","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":"Genetic counseling (Geneva, Switzerland)","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/A5108663459","display_name":"Marie\u2010Claire Vincent","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I134560555","display_name":"Universit\u00e9 Toulouse III - Paul Sabatier","ror":"https://ror.org/02v6kpv12","country_code":"FR","type":"education","lineage":["https://openalex.org/I134560555","https://openalex.org/I4405258862"]},{"id":"https://openalex.org/I4210138343","display_name":"H\u00f4pital Purpan","ror":"https://ror.org/03vcx3f97","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019448017","https://openalex.org/I4210138343"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"M C Vincent","raw_affiliation_strings":["Service de G\u00e9n\u00e9tique M\u00e9dicale & Laboratoire d'Immunog\u00e9n\u00e9tique Mol\u00e9culaire, Universit\u00e9 Paul Sabatier H\u00f4pital Purpan, Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Service de G\u00e9n\u00e9tique M\u00e9dicale & Laboratoire d'Immunog\u00e9n\u00e9tique Mol\u00e9culaire, Universit\u00e9 Paul Sabatier H\u00f4pital Purpan, Toulouse, France","institution_ids":["https://openalex.org/I134560555","https://openalex.org/I4210138343"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5021413572","display_name":"Florian Heitz","orcid":"https://orcid.org/0000-0002-2412-0352","observed_orcids":["https://orcid.org/0000-0002-2412-0352"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"F Heitz","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"J Tricoire","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Tricoire","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5002446469","display_name":"Georges Bourrouillou","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G Bourrouillou","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5011186902","display_name":"Emilienne K\u00fchlein","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E Kuhlein","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5032173568","display_name":"M. Rolland","orcid":"https://orcid.org/0000-0001-9762-3295","observed_orcids":["https://orcid.org/0000-0001-9762-3295"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Rolland","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5014897085","display_name":"Patrick Calvas","orcid":"https://orcid.org/0000-0002-7293-3382","observed_orcids":["https://orcid.org/0000-0002-7293-3382"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"P Calvas","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.2678,"has_fulltext":false,"cited_by_count":51,"citation_normalized_percentile":{"value":0.87122048,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"10","issue":"1","first_page":"43","last_page":"9"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.9976000189781189,"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":0.9976000189781189,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0003000000142492354,"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/T11677","display_name":"Congenital heart defects research","score":9.999999747378752e-05,"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/22q11-2-deletion-syndrome","display_name":"22q11.2 deletion syndrome","score":0.9729999899864197},{"id":"https://openalex.org/keywords/monozygotic-twins","display_name":"monozygotic twins","score":0.9890000224113464},{"id":"https://openalex.org/keywords/phenotypic-discordance","display_name":"phenotypic discordance","score":0.9789999723434448},{"id":"https://openalex.org/keywords/congenital-heart-disease","display_name":"congenital heart disease","score":0.8370000123977661},{"id":"https://openalex.org/keywords/mosaicism","display_name":"mosaicism","score":0.8830000162124634},{"id":"https://openalex.org/keywords/twin-to-twin-transfusion-syndrome","display_name":"twin-twin transfusion syndrome","score":0.9520000219345093},{"id":"https://openalex.org/keywords/genotype-phenotype-correlation","display_name":"genotype-phenotype correlation","score":0.8190000057220459},{"id":"https://openalex.org/keywords/somatic-mutations","display_name":"somatic mutations","score":0.5649999976158142},{"id":"https://openalex.org/keywords/gene-environment-interaction","display_name":"gene-environment interaction","score":0.7950000166893005}],"concepts":[{"id":"https://openalex.org/C2779688345","wikidata":"https://www.wikidata.org/wiki/Q525642","display_name":"DiGeorge syndrome","level":2,"score":0.7985659837722778},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.7212940454483032},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.6942012310028076},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6301487684249878},{"id":"https://openalex.org/C3017743773","wikidata":"https://www.wikidata.org/wiki/Q159979","display_name":"Monozygotic twin","level":2,"score":0.6203478574752808},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.4969668686389923},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.48408403992652893},{"id":"https://openalex.org/C48720390","wikidata":"https://www.wikidata.org/wiki/Q5552250","display_name":"Germline mosaicism","level":4,"score":0.4623023569583893},{"id":"https://openalex.org/C200844832","wikidata":"https://www.wikidata.org/wiki/Q5533517","display_name":"Genotype-phenotype distinction","level":4,"score":0.425650954246521},{"id":"https://openalex.org/C3020646490","wikidata":"https://www.wikidata.org/wiki/Q25203551","display_name":"Clinical phenotype","level":4,"score":0.4107678234577179},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.11213192343711853}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001017","descriptor_name":"Aortic Coarctation","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D001017","descriptor_name":"Aortic Coarctation","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002872","descriptor_name":"Chromosome Deletion","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002892","descriptor_name":"Chromosomes, Human, Pair 22","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D004062","descriptor_name":"DiGeorge Syndrome","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D004062","descriptor_name":"DiGeorge Syndrome","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004200","descriptor_name":"Diseases in Twins","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":"D005317","descriptor_name":"Fetal Growth Retardation","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D005317","descriptor_name":"Fetal Growth Retardation","qualifier_ui":"Q000235","qualifier_name":"genetics","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":"D007231","descriptor_name":"Infant, Newborn","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":true},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014430","descriptor_name":"Twins, Monozygotic","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D014644","descriptor_name":"Genetic Variation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014681","descriptor_name":"Velopharyngeal Insufficiency","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D014681","descriptor_name":"Velopharyngeal Insufficiency","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D017404","descriptor_name":"In Situ Hybridization, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D019066","descriptor_name":"Facies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:10191428","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10191428","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":"Genetic counseling (Geneva, Switzerland)","raw_type":"Journal Article"},{"id":"mag:55832335","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/10191428","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":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2014361163","https://openalex.org/W2105937239","https://openalex.org/W2037407458","https://openalex.org/W2125995536","https://openalex.org/W2042822876","https://openalex.org/W2102322275","https://openalex.org/W1991572107","https://openalex.org/W2064990689","https://openalex.org/W2753472494","https://openalex.org/W2000110166"],"abstract_inverted_index":{"22q11.2":[0,75],"deletion":[1,76],"is":[2],"a":[3,9,42,74,81,119],"common":[4],"genetic":[5,123],"disorder":[6],"characterised":[7],"by":[8],"wide":[10],"spectrum":[11],"of":[12,70,109],"clinical":[13],"manifestations.":[14],"To":[15],"date":[16],"no":[17,86],"simple":[18],"genotype-phenotype":[19],"correlation":[20],"has":[21,37,58],"been":[22,38,52,59],"established.":[23],"Moreover,":[24],"several":[25],"reports":[26],"have":[27,51],"mentioned":[28],"phenotypic":[29,115],"discordance":[30,96],"between":[31,122],"monozygotic":[32],"twins.":[33],"No":[34],"definite":[35],"mechanism":[36],"demonstrated":[39],"and":[40,48,124],"mosaicism,":[41],"postzygotic":[43],"second":[44],"hit,":[45],"environmental":[46,125],"effects":[47],"chance":[49],"events":[50],"proposed.":[53],"The":[54,94],"twinning":[55],"process":[56],"itself":[57],"suspected":[60],"in":[61,100],"two":[62],"cases":[63],"(11,":[64],"23).":[65],"We":[66,84],"report":[67],"the":[68,107,114],"case":[69],"monozygous":[71],"twins":[72],"with":[73],"who":[77],"are":[78],"discordant":[79],"for":[80,88,97],"heart":[82,98],"defect.":[83],"found":[85],"arguments":[87],"mosaicism":[89],"or":[90],"twin-to-twin":[91],"transfusion":[92],"syndrome.":[93],"frequent":[95],"defects":[99],"DiGeorge/Velo-cardio-facial":[101],"syndromes":[102],"(DGS/VCFS)":[103],"does":[104],"not":[105],"favour":[106],"hypothesis":[108],"somatic":[110],"mutations":[111],"contributing":[112],"to":[113],"variation,":[116],"but":[117],"rather":[118],"complex":[120],"interaction":[121],"systems.":[126]},"counts_by_year":[{"year":2022,"cited_by_count":1},{"year":2020,"cited_by_count":1},{"year":2018,"cited_by_count":2},{"year":2016,"cited_by_count":1},{"year":2015,"cited_by_count":2},{"year":2014,"cited_by_count":1},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
