{"id":"https://openalex.org/W1967355342","doi":"https://doi.org/10.1007/bf00274147","title":"Risks of fetal cystic fibrosis based on linkage disequilibrium data","display_name":"Risks of fetal cystic fibrosis based on linkage disequilibrium data","publication_year":1989,"publication_date":"1989-08-01","ids":{"openalex":"https://openalex.org/W1967355342","doi":"https://doi.org/10.1007/bf00274147","mag":"1967355342","pmid":"https://pubmed.ncbi.nlm.nih.gov/2570017"},"language":"en","primary_location":{"id":"doi:10.1007/bf00274147","doi":"https://doi.org/10.1007/bf00274147","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00274147","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","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/A5113765743","display_name":"Susan M. Holloway","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800150677","display_name":"Western General Hospital","ror":"https://ror.org/009kr6r15","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1324252669","https://openalex.org/I2800150677"]},{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Susan Holloway","raw_affiliation_strings":["Human Genetics Unit, University of Edinburgh, Western General Hospital, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics Unit, University of Edinburgh, Western General Hospital, UK","institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I98677209"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5021508563","display_name":"D. J. H. Brock","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800150677","display_name":"Western General Hospital","ror":"https://ror.org/009kr6r15","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1324252669","https://openalex.org/I2800150677"]},{"id":"https://openalex.org/I98677209","display_name":"University of Edinburgh","ror":"https://ror.org/01nrxwf90","country_code":"GB","type":"education","lineage":["https://openalex.org/I98677209"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"D. J. H. Brock","raw_affiliation_strings":["Human Genetics Unit, University of Edinburgh, Western General Hospital, EH4 2XU, Edinburgh, UK","Human Genetics Unit, University of Edinburgh Western General Hospital, Edinburgh, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Human Genetics Unit, University of Edinburgh, Western General Hospital, EH4 2XU, Edinburgh, UK","institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I98677209"]},{"raw_affiliation_string":"Human Genetics Unit, University of Edinburgh Western General Hospital, Edinburgh, UK","institution_ids":["https://openalex.org/I2800150677","https://openalex.org/I98677209"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":2,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":3690,"currency":"USD","value_usd":3690},"apc_paid":null,"fwci":2.2,"has_fulltext":false,"cited_by_count":4,"citation_normalized_percentile":{"value":0.85981816,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"83","issue":"1","first_page":"52","last_page":"54"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10978","display_name":"Prenatal Screening and Diagnostics","score":0.711899995803833,"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":0.711899995803833,"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/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.26269999146461487,"subfield":{"id":"https://openalex.org/subfields/2740","display_name":"Pulmonary and Respiratory Medicine"},"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/T11642","display_name":"Genomics and Rare Diseases","score":0.008200000040233135,"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/cystic-fibrosis","display_name":"cystic fibrosis","score":1.0},{"id":"https://openalex.org/keywords/linkage-disequilibrium","display_name":"linkage disequilibrium","score":0.8259999752044678},{"id":"https://openalex.org/keywords/haplotypes","display_name":"haplotypes","score":0.6700000166893005},{"id":"https://openalex.org/keywords/prenatal-diagnosis","display_name":"prenatal diagnosis","score":0.6930000185966492},{"id":"https://openalex.org/keywords/first-trimester-diagnosis","display_name":"first trimester diagnosis","score":0.7770000100135803},{"id":"https://openalex.org/keywords/restriction-fragment-length-polymorphism","display_name":"restriction fragment length polymorphism","score":0.9430000185966492},{"id":"https://openalex.org/keywords/cystic-fibrosis-gene","display_name":"cystic fibrosis gene","score":0.7329999804496765}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.8496822118759155},{"id":"https://openalex.org/C2779105492","wikidata":"https://www.wikidata.org/wiki/Q4385680","display_name":"TaqI","level":5,"score":0.82005774974823},{"id":"https://openalex.org/C35605836","wikidata":"https://www.wikidata.org/wiki/Q2064311","display_name":"Linkage disequilibrium","level":5,"score":0.7535449266433716},{"id":"https://openalex.org/C2776938444","wikidata":"https://www.wikidata.org/wiki/Q178194","display_name":"Cystic fibrosis","level":2,"score":0.6566874980926514},{"id":"https://openalex.org/C2780397633","wikidata":"https://www.wikidata.org/wiki/Q6090491","display_name":"PstI","level":4,"score":0.6520071029663086},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.6513043642044067},{"id":"https://openalex.org/C2778258057","wikidata":"https://www.wikidata.org/wiki/Q1136569","display_name":"Prenatal diagnosis","level":4,"score":0.610794723033905},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.5814019441604614},{"id":"https://openalex.org/C172680121","wikidata":"https://www.wikidata.org/wiki/Q26513","display_name":"Fetus","level":3,"score":0.5062541365623474},{"id":"https://openalex.org/C47042493","wikidata":"https://www.wikidata.org/wiki/Q265799","display_name":"Human genetics","level":3,"score":0.4695506691932678},{"id":"https://openalex.org/C168007829","wikidata":"https://www.wikidata.org/wiki/Q857299","display_name":"Restriction fragment length polymorphism","level":4,"score":0.37180107831954956},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.2983759641647339},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.21952027082443237},{"id":"https://openalex.org/C2779234561","wikidata":"https://www.wikidata.org/wiki/Q11995","display_name":"Pregnancy","level":2,"score":0.20793300867080688},{"id":"https://openalex.org/C128319531","wikidata":"https://www.wikidata.org/wiki/Q219715","display_name":"Restriction enzyme","level":3,"score":0.12181991338729858}],"mesh":[{"descriptor_ui":"D003550","descriptor_name":"Cystic Fibrosis","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D003550","descriptor_name":"Cystic Fibrosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005819","descriptor_name":"Genetic Markers","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006579","descriptor_name":"Heterozygote","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":"D008040","descriptor_name":"Genetic Linkage","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011296","descriptor_name":"Prenatal Diagnosis","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D011336","descriptor_name":"Probability","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":"D012306","descriptor_name":"Risk","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1007/bf00274147","doi":"https://doi.org/10.1007/bf00274147","is_oa":false,"landing_page_url":"https://doi.org/10.1007/bf00274147","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:2570017","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2570017","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"}],"best_oa_location":null,"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9537000060081482}],"study_designs":[],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W1981159474","https://openalex.org/W1994182939","https://openalex.org/W2028314770","https://openalex.org/W2029697802","https://openalex.org/W2036041814","https://openalex.org/W2043609644","https://openalex.org/W2055184801","https://openalex.org/W2058561892","https://openalex.org/W2065601417","https://openalex.org/W2087973530","https://openalex.org/W2169345430","https://openalex.org/W2418650052","https://openalex.org/W2483839803"],"related_works":["https://openalex.org/W2055184801","https://openalex.org/W19022926","https://openalex.org/W2411706011","https://openalex.org/W2058219828","https://openalex.org/W2054071303","https://openalex.org/W2417338058","https://openalex.org/W1994182939","https://openalex.org/W1977536068","https://openalex.org/W2139796717","https://openalex.org/W2419493660"],"abstract_inverted_index":null,"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}