{"id":"https://openalex.org/W154187359","doi":null,"title":"Studies of cystic fibrosis in Hutterite families by using linked DNA probes.","display_name":"Studies of cystic fibrosis in Hutterite families by using linked DNA probes.","publication_year":1987,"publication_date":"1987-12-01","ids":{"openalex":"https://openalex.org/W154187359","mag":"154187359","pmid":"https://pubmed.ncbi.nlm.nih.gov/3479902","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1684350"},"language":"en","primary_location":{"id":"pmid:3479902","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3479902","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 human genetics","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/A5016707790","display_name":"Carole Ober","orcid":"https://orcid.org/0000-0003-4626-9809","observed_orcids":["https://orcid.org/0000-0003-4626-9809"]},"institutions":[{"id":"https://openalex.org/I111979921","display_name":"Northwestern University","ror":"https://ror.org/000e0be47","country_code":"US","type":"education","lineage":["https://openalex.org/I111979921"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"C Ober","raw_affiliation_strings":["Department of Obstetrics and Gynecology, Northwestern University Medical School, Chicago, IL 60611"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Obstetrics and Gynecology, Northwestern University Medical School, Chicago, IL 60611","institution_ids":["https://openalex.org/I111979921"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5080115480","display_name":"ALLEN BOMBARD","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A Bombard","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"R Dhaliwal","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R Dhaliwal","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113682383","display_name":"Sherman Elias","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Elias","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":null,"display_name":"J Fagan","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J Fagan","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5069926866","display_name":"Thomas G. Laffler","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"T G Laffler","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036803554","display_name":"Alice O. Martin","orcid":"https://orcid.org/0000-0002-9023-506X","observed_orcids":["https://orcid.org/0000-0002-9023-506X"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"A O Martin","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5028654225","display_name":"Barbara J. Rosinsky","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"B Rosinsky","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":2.4688,"has_fulltext":false,"cited_by_count":13,"citation_normalized_percentile":{"value":0.87192339,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":88,"max":96},"biblio":{"volume":"41","issue":"6","first_page":"1145","last_page":"51"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.9990000128746033,"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"}},"topics":[{"id":"https://openalex.org/T10665","display_name":"Cystic Fibrosis Research Advances","score":0.9990000128746033,"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/T10261","display_name":"Genetic Associations and Epidemiology","score":0.0005000000237487257,"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/T11412","display_name":"Genetic and Kidney Cyst Diseases","score":9.999999747378752e-05,"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/hutterites","display_name":"Hutterites","score":0.9419999718666077},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"genetic linkage","score":0.5950000286102295},{"id":"https://openalex.org/keywords/chromosome-7","display_name":"chromosome 7","score":0.9789999723434448},{"id":"https://openalex.org/keywords/d7s8","display_name":"D7S8","score":0.718999981880188},{"id":"https://openalex.org/keywords/methamphetamine","display_name":"methamphetamine","score":0.5950000286102295},{"id":"https://openalex.org/keywords/inbred-populations","display_name":"inbred populations","score":0.6769999861717224},{"id":"https://openalex.org/keywords/haplotypes","display_name":"haplotypes","score":0.6650000214576721},{"id":"https://openalex.org/keywords/ancestral-origins","display_name":"ancestral origins","score":0.5419999957084656},{"id":"https://openalex.org/keywords/heterozygous-carriers","display_name":"heterozygous carriers","score":0.8149999976158142},{"id":"https://openalex.org/keywords/founder-mutation","display_name":"founder mutation","score":0.30799999833106995}],"concepts":[{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.8165948390960693},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.7259993553161621},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7172587513923645},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.6860548257827759},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.6162998676300049},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.540770411491394},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.521342396736145},{"id":"https://openalex.org/C2776938444","wikidata":"https://www.wikidata.org/wiki/Q178194","display_name":"Cystic fibrosis","level":2,"score":0.5150606632232666},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4916437268257141},{"id":"https://openalex.org/C190789776","wikidata":"https://www.wikidata.org/wiki/Q767511","display_name":"Genetic marker","level":3,"score":0.49146974086761475},{"id":"https://openalex.org/C180754005","wikidata":"https://www.wikidata.org/wiki/Q80726","display_name":"Allele","level":3,"score":0.228385329246521},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.06487953662872314},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0}],"mesh":[{"descriptor_ui":"D002897","descriptor_name":"Chromosomes, Human, Pair 7","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D003550","descriptor_name":"Cystic Fibrosis","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D003550","descriptor_name":"Cystic Fibrosis","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D004247","descriptor_name":"DNA","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D005006","descriptor_name":"Ethnicity","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":"D005819","descriptor_name":"Genetic Markers","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":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","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":"D013023","descriptor_name":"South Dakota","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:3479902","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3479902","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 human genetics","raw_type":"Journal Article"},{"id":"mag:154187359","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3479902","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":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8560000061988831}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[{"id":"https://openalex.org/G8752005819","display_name":"BIOMEDICAL RESEARCH SUPPORT","funder_award_id":"S07RR005370","funder_id":"https://openalex.org/F4320337375","funder_display_name":"National Center for Research Resources"}],"funders":[{"id":"https://openalex.org/F4320337375","display_name":"National Center for Research Resources","ror":"https://ror.org/04pw6fb54"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":13,"referenced_works":["https://openalex.org/W8071264","https://openalex.org/W42656587","https://openalex.org/W159365534","https://openalex.org/W1572165205","https://openalex.org/W1990167868","https://openalex.org/W1990516512","https://openalex.org/W2007492420","https://openalex.org/W2025049903","https://openalex.org/W2030423815","https://openalex.org/W2058831382","https://openalex.org/W2063450941","https://openalex.org/W2083250205","https://openalex.org/W2129212181"],"related_works":["https://openalex.org/W1576228307","https://openalex.org/W1712244740","https://openalex.org/W2016519399","https://openalex.org/W4290387206","https://openalex.org/W1553815349","https://openalex.org/W2529688097","https://openalex.org/W2417289233","https://openalex.org/W2014084302","https://openalex.org/W42656587","https://openalex.org/W1970014665"],"abstract_inverted_index":{"Several":[0],"multigenerational":[1],"S-leut":[2],"Hutterite":[3,70],"families":[4,71,124],"with":[5,13,73],"cystic":[6],"fibrosis":[7],"(CF)":[8],"were":[9,21],"ascertained.":[10],"Linkage":[11],"studies":[12],"DNA":[14,37],"marker":[15],"loci":[16],"MET":[17],"and":[18,51,81],"pJ3.11":[19],"(D7S8)":[20],"performed":[22],"to":[23,36,91,104],"determine":[24],"whether":[25],"(1)":[26],"the":[27,56,66,84,95,123,132,136,139],"CF":[28,57,67,85,133,140],"gene":[29,58,68,141],"in":[30,45,69,87,107],"this":[31,147],"inbred":[32],"population":[33,148],"is":[34,44,89],"linked":[35,103],"markers":[38],"on":[39],"chromosome":[40,74,128],"7,":[41],"as":[42,98,150,152],"it":[43],"outbred":[46,108],"populations":[47],"of":[48,55,119],"European":[49],"origins,":[50],"(2)":[52],"ancestral":[53],"origin(s)":[54],"could":[59,112],"be":[60,92,113],"determined.":[61],"Our":[62],"results":[63],"indicate":[64],"that":[65,105,138],"segregates":[72],"7":[75,129],"markers,":[76],"identified":[77],"by":[78,149],"probes":[79],"metH":[80],"pJ3.11.":[82],"Thus,":[83],"mutation":[86],"Hutterites":[88],"likely":[90],"either":[93],"at":[94,100],"same":[96],"locus":[97],"or":[99],"one":[101],"closely":[102],"reported":[106],"populations.":[109],"Heterozygous":[110],"carriers":[111],"distinguished":[114],"from":[115],"normal":[116],"homozygous":[117],"sibs":[118],"affected":[120],"individuals.":[121],"In":[122],"studied,":[125],"three":[126,153],"different":[127,154],"haplotypes":[130],"carried":[131],"mutation,":[134],"raising":[135],"possibility":[137],"may":[142],"have":[143],"been":[144],"introduced":[145],"into":[146],"many":[151],"ancestors.":[155]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2016,"cited_by_count":2},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}