{"id":"https://openalex.org/W2087616799","doi":"https://doi.org/10.1002/pd.1970050212","title":"Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA)","display_name":"Prenatal diagnosis of a true mosaic trisomy 20 substantiated by demonstration of a gene dosage effect for adenosine deaminase (ADA)","publication_year":1985,"publication_date":"1985-03-01","ids":{"openalex":"https://openalex.org/W2087616799","doi":"https://doi.org/10.1002/pd.1970050212","mag":"2087616799","pmid":"https://pubmed.ncbi.nlm.nih.gov/3991468"},"language":"en","primary_location":{"id":"doi:10.1002/pd.1970050212","doi":"https://doi.org/10.1002/pd.1970050212","is_oa":false,"landing_page_url":"https://doi.org/10.1002/pd.1970050212","pdf_url":null,"source":{"id":"https://openalex.org/S171405753","display_name":"Prenatal Diagnosis","issn_l":"0197-3851","issn":["0197-3851","1097-0223"],"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-70","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":"Prenatal Diagnosis","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/A5050655185","display_name":"Peter J. Steinbach","orcid":"https://orcid.org/0000-0002-6710-3472","observed_orcids":["https://orcid.org/0000-0002-6710-3472"]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"P. Steinbach","raw_affiliation_strings":["Abteilung Klinische Genetik. Universita\u0308t Ulm, Frauenstrasse 29, D-7900 Ulm, Federal Republic of Germany","Abteilung Klinische Genetik, Universit\u00e4t Ulm, Frauenstrasse 29, D-7900 Ulm, Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Abteilung Klinische Genetik. Universita\u0308t Ulm, Frauenstrasse 29, D-7900 Ulm, Federal Republic of Germany","institution_ids":["https://openalex.org/I196349391"]},{"raw_affiliation_string":"Abteilung Klinische Genetik, Universit\u00e4t Ulm, Frauenstrasse 29, D-7900 Ulm, Federal Republic of Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"middle","author":{"id":null,"display_name":"M. Djalali","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I196349391","display_name":"Universit\u00e4t Ulm","ror":"https://ror.org/032000t02","country_code":"DE","type":"education","lineage":["https://openalex.org/I196349391"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"M. Djalali","raw_affiliation_strings":["Abteilung Klinische Genetik. Universita\u0308t Ulm, Frauenstrasse 29, D-7900 Ulm, Federal Republic of Germany","Abteilung Klinische Genetik, Universit\u00e4t Ulm, Frauenstrasse 29, D-7900 Ulm, Federal Republic of Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Abteilung Klinische Genetik. Universita\u0308t Ulm, Frauenstrasse 29, D-7900 Ulm, Federal Republic of Germany","institution_ids":["https://openalex.org/I196349391"]},{"raw_affiliation_string":"Abteilung Klinische Genetik, Universit\u00e4t Ulm, Frauenstrasse 29, D-7900 Ulm, Federal Republic of Germany","institution_ids":["https://openalex.org/I196349391"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5103413642","display_name":"M. O. Rolland","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210100596","display_name":"Hospices Civils de Lyon","ror":"https://ror.org/01502ca60","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210100596"]},{"id":"https://openalex.org/I4210119578","display_name":"H\u00f4pital Debrousse","ror":"https://ror.org/02cc58y38","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I4210119578"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Marie\u2010Odile Rolland","raw_affiliation_strings":["Biochemistry Laboratory. Hopital Debrousse, Lyon, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Biochemistry Laboratory. Hopital Debrousse, Lyon, France","institution_ids":["https://openalex.org/I4210100596","https://openalex.org/I4210119578"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5050655185"],"corresponding_institution_ids":["https://openalex.org/I196349391"],"apc_list":{"value":4640,"currency":"USD","value_usd":4640},"apc_paid":null,"fwci":2.3851,"has_fulltext":false,"cited_by_count":5,"citation_normalized_percentile":{"value":0.87518854,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"5","issue":"2","first_page":"163","last_page":"166"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9804999828338623,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.9804999828338623,"subfield":{"id":"https://openalex.org/subfields/2735","display_name":"Pediatrics, Perinatology and Child Health"},"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":0.013299999758601189,"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/T11077","display_name":"Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities","score":0.0020000000949949026,"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/chromosome-20","display_name":"chromosome 20","score":0.9300000071525574},{"id":"https://openalex.org/keywords/adenosine-deaminase","display_name":"adenosine deaminase","score":0.9789999723434448},{"id":"https://openalex.org/keywords/gene-dosage-effect","display_name":"gene dosage effect","score":0.9589999914169312},{"id":"https://openalex.org/keywords/trisomy","display_name":"trisomy","score":0.578000009059906},{"id":"https://openalex.org/keywords/dilution-plating","display_name":"dilution plating","score":0.8420000076293945},{"id":"https://openalex.org/keywords/cytogenetic-diagnosis","display_name":"cytogenetic diagnosis","score":0.7390000224113464}],"concepts":[{"id":"https://openalex.org/C34628245","wikidata":"https://www.wikidata.org/wiki/Q356093","display_name":"Adenosine deaminase","level":3,"score":0.8944606781005859},{"id":"https://openalex.org/C2776229224","wikidata":"https://www.wikidata.org/wiki/Q844903","display_name":"Trisomy","level":2,"score":0.8886371850967407},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.6502519249916077},{"id":"https://openalex.org/C55548728","wikidata":"https://www.wikidata.org/wiki/Q1465102","display_name":"Gene dosage","level":4,"score":0.548195481300354},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.5406585931777954},{"id":"https://openalex.org/C2779672484","wikidata":"https://www.wikidata.org/wiki/Q529622","display_name":"Aneuploidy","level":4,"score":0.5340638756752014},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.5219302177429199},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5203932523727417},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.518918514251709},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.49574002623558044},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.4820074141025543},{"id":"https://openalex.org/C165912504","wikidata":"https://www.wikidata.org/wiki/Q4652703","display_name":"AMP deaminase","level":4,"score":0.4696361720561981},{"id":"https://openalex.org/C2776991684","wikidata":"https://www.wikidata.org/wiki/Q190012","display_name":"Adenosine","level":2,"score":0.3998638391494751},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.21211516857147217},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.17991310358047485},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.07283422350883484}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D000243","descriptor_name":"Adenosine Deaminase","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D000328","descriptor_name":"Adult","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002869","descriptor_name":"Chromosome Aberrations","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002903","descriptor_name":"Chromosomes, Human, 19-20","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":"D006330","descriptor_name":"Heart Defects, Congenital","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":"D009030","descriptor_name":"Mosaicism","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D009700","descriptor_name":"Nucleoside Deaminases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011247","descriptor_name":"Pregnancy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D014314","descriptor_name":"Trisomy","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D025063","descriptor_name":"Chromosome Disorders","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/pd.1970050212","doi":"https://doi.org/10.1002/pd.1970050212","is_oa":false,"landing_page_url":"https://doi.org/10.1002/pd.1970050212","pdf_url":null,"source":{"id":"https://openalex.org/S171405753","display_name":"Prenatal Diagnosis","issn_l":"0197-3851","issn":["0197-3851","1097-0223"],"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-70","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":"Prenatal Diagnosis","raw_type":"journal-article"},{"id":"pmid:3991468","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3991468","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":"Prenatal diagnosis","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.766700029373169,"display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":12,"referenced_works":["https://openalex.org/W585721197","https://openalex.org/W1965476361","https://openalex.org/W1971607595","https://openalex.org/W2004210788","https://openalex.org/W2014600301","https://openalex.org/W2061536477","https://openalex.org/W2062993930","https://openalex.org/W2070113921","https://openalex.org/W2074650829","https://openalex.org/W2087564390","https://openalex.org/W2107750392","https://openalex.org/W2399236861"],"related_works":["https://openalex.org/W4284988655","https://openalex.org/W2075489803","https://openalex.org/W2471156060","https://openalex.org/W2075983655","https://openalex.org/W2162146375","https://openalex.org/W3031471681","https://openalex.org/W2408109012","https://openalex.org/W2036623425","https://openalex.org/W2042990115","https://openalex.org/W1995047000"],"abstract_inverted_index":{"Fibroblasts":[0],"from":[1],"a":[2,20,44],"fetus":[3],"with":[4],"the":[5,52],"prenatal":[6],"diagnosis":[7,38],"of":[8,43],"mosaic":[9],"trisomy":[10],"20":[11],"were":[12],"cloned":[13],"by":[14,41],"dilution":[15],"plating.":[16],"Adenosine":[17],"deaminase":[18],"(ADA),":[19],"biochemical":[21],"marker":[22],"for":[23,49],"chromosome":[24],"20,":[25],"was":[26,39],"assayed":[27],"in":[28,51],"trisomic":[29,53],"clones":[30,33],"and":[31],"normal":[32],"as":[34],"control.":[35],"The":[36],"cytogenetic":[37],"substantiated":[40],"demonstration":[42],"triplex":[45],"gene":[46],"dosage":[47],"effect":[48],"ADA":[50],"cells.":[54]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
