{"id":"https://openalex.org/W2162948486","doi":"https://doi.org/10.1007/bf00193578","title":"Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus","display_name":"Direct carrier detection by in situ suppression hybridization with cosmid clones of the Duchenne/Becker muscular dystrophy locus","publication_year":1990,"publication_date":"1990-10-01","ids":{"openalex":"https://openalex.org/W2162948486","doi":"https://doi.org/10.1007/bf00193578","mag":"2162948486","pmid":"https://pubmed.ncbi.nlm.nih.gov/2227948"},"language":"en","primary_location":{"id":"doi:10.1007/bf00193578","doi":"https://doi.org/10.1007/bf00193578","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00193578","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"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-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","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/A5031392514","display_name":"Thomas Ried","orcid":"https://orcid.org/0000-0002-0767-6009","observed_orcids":["https://orcid.org/0000-0002-0767-6009"]},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"T. Ried","raw_affiliation_strings":["Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Heidelberg, Federal Republic of Germany","Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Heidelberg, Federal Republic of Germany","institution_ids":["https://openalex.org/I223822909"]},{"raw_affiliation_string":"Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany","institution_ids":["https://openalex.org/I223822909"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5008135040","display_name":"Vera Mahler","orcid":"https://orcid.org/0000-0001-6471-1811","observed_orcids":["https://orcid.org/0000-0001-6471-1811"]},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"V. Mahler","raw_affiliation_strings":["Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany","institution_ids":["https://openalex.org/I223822909"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5108512079","display_name":"P. H. Vogt","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"P. Vogt","raw_affiliation_strings":["Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany","institution_ids":["https://openalex.org/I223822909"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107849923","display_name":"Lau Blonden","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L. Blonden","raw_affiliation_strings":["Department of Human Genetics, Sylvius Laboratories, NL-2333, AL Leiden, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Sylvius Laboratories, NL-2333, AL Leiden, The Netherlands","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055691889","display_name":"Gert\u2010Jan B. van Ommen","orcid":"https://orcid.org/0000-0002-8603-218X","observed_orcids":["https://orcid.org/0000-0002-8603-218X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"G. J. B. van Ommen","raw_affiliation_strings":["Department of Human Genetics, Sylvius Laboratories, NL-2333, AL Leiden, The Netherlands"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, Sylvius Laboratories, NL-2333, AL Leiden, The Netherlands","institution_ids":[]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110290810","display_name":"Thomas Cremer","orcid":"https://orcid.org/0000-0001-7135-7216","observed_orcids":["https://orcid.org/0000-0001-7135-7216"]},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"T. Cremer","raw_affiliation_strings":["Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany","institution_ids":["https://openalex.org/I223822909"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5073152482","display_name":"Marion Cremer","orcid":"https://orcid.org/0000-0002-1830-9589","observed_orcids":["https://orcid.org/0000-0002-1830-9589"]},"institutions":[{"id":"https://openalex.org/I223822909","display_name":"Heidelberg University","ror":"https://ror.org/038t36y30","country_code":"DE","type":"education","lineage":["https://openalex.org/I223822909"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"M. Cremer","raw_affiliation_strings":["Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Institut f\u00fcr Humangenetik und Anthropologie der Universit\u00e4t, Im Neuenheimer Feld 328, W-6900, Heidelberg, Germany","institution_ids":["https://openalex.org/I223822909"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3690,"currency":"USD","value_usd":3690},"apc_paid":null,"fwci":3.7058,"has_fulltext":false,"cited_by_count":76,"citation_normalized_percentile":{"value":0.94094452,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"85","issue":"6","first_page":"581","last_page":"586"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.8827999830245972,"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"}},"topics":[{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.8827999830245972,"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"}},{"id":"https://openalex.org/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.04500000178813934,"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":0.03420000150799751,"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/duchenne-muscular-dystrophy","display_name":"Duchenne muscular dystrophy","score":0.9200000166893005},{"id":"https://openalex.org/keywords/becker-muscular-dystrophy","display_name":"Becker muscular dystrophy","score":1.0},{"id":"https://openalex.org/keywords/carrier-detection","display_name":"carrier detection","score":0.8320000171661377},{"id":"https://openalex.org/keywords/cosmid-clones","display_name":"cosmid clones","score":0.9229999780654907},{"id":"https://openalex.org/keywords/dmd-gene","display_name":"dystrophin gene","score":0.9620000123977661},{"id":"https://openalex.org/keywords/exon-deletion","display_name":"exon deletion","score":0.8410000205039978},{"id":"https://openalex.org/keywords/x-chromosome","display_name":"X chromosome","score":0.4440000057220459},{"id":"https://openalex.org/keywords/female-relatives","display_name":"female relatives","score":0.718999981880188},{"id":"https://openalex.org/keywords/genetic-counseling","display_name":"genetic counseling","score":0.9390000104904175}],"concepts":[{"id":"https://openalex.org/C35101798","wikidata":"https://www.wikidata.org/wiki/Q414491","display_name":"Cosmid","level":3,"score":0.9384521245956421},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8439855575561523},{"id":"https://openalex.org/C2778943923","wikidata":"https://www.wikidata.org/wiki/Q1648484","display_name":"Duchenne muscular dystrophy","level":2,"score":0.764788031578064},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.7155340909957886},{"id":"https://openalex.org/C2780394045","wikidata":"https://www.wikidata.org/wiki/Q412285","display_name":"Dystrophin","level":3,"score":0.6705797910690308},{"id":"https://openalex.org/C133307689","wikidata":"https://www.wikidata.org/wiki/Q48749","display_name":"Southern blot","level":3,"score":0.5983284711837769},{"id":"https://openalex.org/C2779030066","wikidata":"https://www.wikidata.org/wiki/Q1137767","display_name":"Muscular dystrophy","level":2,"score":0.5918759703636169},{"id":"https://openalex.org/C35158069","wikidata":"https://www.wikidata.org/wiki/Q61333","display_name":"X chromosome","level":3,"score":0.5847709774971008},{"id":"https://openalex.org/C153911025","wikidata":"https://www.wikidata.org/wiki/Q7202","display_name":"Molecular biology","level":1,"score":0.5610280632972717},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5417992472648621},{"id":"https://openalex.org/C120599132","wikidata":"https://www.wikidata.org/wiki/Q602889","display_name":"Multiplex ligation-dependent probe amplification","level":4,"score":0.5377066731452942},{"id":"https://openalex.org/C81439078","wikidata":"https://www.wikidata.org/wiki/Q2304142","display_name":"In situ hybridization","level":4,"score":0.4802282452583313},{"id":"https://openalex.org/C36823959","wikidata":"https://www.wikidata.org/wiki/Q373027","display_name":"Exon","level":3,"score":0.4633413255214691},{"id":"https://openalex.org/C124942203","wikidata":"https://www.wikidata.org/wiki/Q656638","display_name":"Comparative genomic hybridization","level":4,"score":0.41557759046554565},{"id":"https://openalex.org/C122735190","wikidata":"https://www.wikidata.org/wiki/Q715789","display_name":"Gene mapping","level":4,"score":0.41441091895103455},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.3509101867675781},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.2706289291381836},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.06215676665306091}],"mesh":[{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003360","descriptor_name":"Cosmids","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005260","descriptor_name":"Female","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005784","descriptor_name":"Gene Amplification","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006580","descriptor_name":"Genetic Carrier Screening","qualifier_ui":"Q000379","qualifier_name":"methods","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008856","descriptor_name":"Microscopy, Fluorescence","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009136","descriptor_name":"Muscular Dystrophies","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":"D014960","descriptor_name":"X Chromosome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015139","descriptor_name":"Blotting, Southern","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016189","descriptor_name":"Dystrophin","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":4,"locations":[{"id":"doi:10.1007/bf00193578","doi":"https://doi.org/10.1007/bf00193578","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00193578","pdf_url":null,"source":{"id":"https://openalex.org/S199832308","display_name":"Human Genetics","issn_l":"0018-7348","issn":["0018-7348","0340-6717","1432-1203"],"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-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Human Genetics","raw_type":"journal-article"},{"id":"pmid:2227948","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2227948","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":"Human genetics","raw_type":"Journal Article"},{"id":"pmh:oai:CiteSeerX.psu:10.1.1.454.7438","doi":null,"is_oa":false,"landing_page_url":"http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.454.7438","pdf_url":null,"source":null,"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"http://epub.ub.uni-muenchen.de/9284/1/cremer_thomas_9284.pdf","raw_type":"text"},{"id":"pmh:oai:epub.ub.uni-muenchen.de:9284","doi":null,"is_oa":false,"landing_page_url":"http://nbn-resolving.de/urn:nbn:de:bvb:19-epub-9284-1","pdf_url":null,"source":{"id":"https://openalex.org/S4306401845","display_name":"Open access LMU (Ludwid Maxmilian's Universitat Munchen)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I8204097","host_organization_name":"Ludwig-Maximilians-Universit\u00e4t M\u00fcnchen","host_organization_lineage":["https://openalex.org/I8204097"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Human Genetics","raw_type":"doc-type:article"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9391000270843506,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"sustainable_development_goals_aurora":[{"score":0.49000000953674316,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":33,"referenced_works":["https://openalex.org/W9127982","https://openalex.org/W58742088","https://openalex.org/W89647785","https://openalex.org/W1513717105","https://openalex.org/W1909665571","https://openalex.org/W1973319827","https://openalex.org/W1979441162","https://openalex.org/W1991594869","https://openalex.org/W1993558252","https://openalex.org/W1999701798","https://openalex.org/W2014038908","https://openalex.org/W2017305803","https://openalex.org/W2019333139","https://openalex.org/W2021582149","https://openalex.org/W2032191440","https://openalex.org/W2037519135","https://openalex.org/W2039885052","https://openalex.org/W2043522420","https://openalex.org/W2044316897","https://openalex.org/W2055254549","https://openalex.org/W2055784655","https://openalex.org/W2066180106","https://openalex.org/W2067742239","https://openalex.org/W2090466909","https://openalex.org/W2093377166","https://openalex.org/W2121591701","https://openalex.org/W2132067289","https://openalex.org/W2135533956","https://openalex.org/W2144634347","https://openalex.org/W2167021585","https://openalex.org/W2417778322","https://openalex.org/W2485366825","https://openalex.org/W2989345970"],"related_works":["https://openalex.org/W1970730723","https://openalex.org/W2414188547","https://openalex.org/W2040579787","https://openalex.org/W2064901111","https://openalex.org/W2089466723","https://openalex.org/W2168749607","https://openalex.org/W1821256224","https://openalex.org/W2084460867","https://openalex.org/W7098742085","https://openalex.org/W2068527849"],"abstract_inverted_index":null,"counts_by_year":[{"year":2017,"cited_by_count":1},{"year":2014,"cited_by_count":1}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
