{"id":"https://openalex.org/W54905336","doi":null,"title":"Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping.","display_name":"Refining the region of branchio-oto-renal syndrome and defining the flanking markers on chromosome 8q by genetic mapping.","publication_year":1994,"publication_date":"1994-12-01","ids":{"openalex":"https://openalex.org/W54905336","mag":"54905336","pmid":"https://pubmed.ncbi.nlm.nih.gov/7977379","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1918457"},"language":"en","primary_location":{"id":"pmh:oai:pubmedcentral.nih.gov:1918457","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1918457","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Am J Hum Genet","raw_type":"Text"},"volume":null,"type":"article","indexed_in":["pubmed"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1918457","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5018733955","display_name":"Shrawan Kumar","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1307497284","display_name":"Boys Town","ror":"https://ror.org/03ebg0v16","country_code":"US","type":"nonprofit","lineage":["https://openalex.org/I1307497284"]},{"id":"https://openalex.org/I4210107141","display_name":"Boys Town National Research Hospital","ror":"https://ror.org/01q9r1072","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210107141"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S Kumar","raw_affiliation_strings":["Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, NE 68131"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Center for Hereditary and Communication Disorders, Boys Town National Research Hospital, Omaha, NE 68131","institution_ids":["https://openalex.org/I1307497284","https://openalex.org/I4210107141"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5109325540","display_name":"W. J. Kimberling","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"W J Kimberling","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051111823","display_name":"Christopher J. Connolly","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C J Connolly","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5055413602","display_name":"Susan T. Tinley","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"S Tinley","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111964828","display_name":"Henri A. M. Marres","orcid":"https://orcid.org/0000-0003-3096-7071","observed_orcids":["https://orcid.org/0000-0003-3096-7071"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H A Marres","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5109275573","display_name":"Cor W. R. J. Cremers","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"C W Cremers","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":0.8697,"has_fulltext":false,"cited_by_count":9,"citation_normalized_percentile":{"value":0.72690217,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"55","issue":"6","first_page":"1188","last_page":"94"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T12631","display_name":"Head and Neck Anomalies","score":0.7645999789237976,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T12631","display_name":"Head and Neck Anomalies","score":0.7645999789237976,"subfield":{"id":"https://openalex.org/subfields/2746","display_name":"Surgery"},"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/T13738","display_name":"Congenital Ear and Nasal Anomalies","score":0.11400000005960464,"subfield":{"id":"https://openalex.org/subfields/2716","display_name":"Genetics"},"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/T10334","display_name":"Hearing, Cochlea, Tinnitus, Genetics","score":0.03689999878406525,"subfield":{"id":"https://openalex.org/subfields/2809","display_name":"Sensory Systems"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/branchio-oto-renal-syndrome","display_name":"branchio-oto-renal syndrome","score":0.9990000128746033},{"id":"https://openalex.org/keywords/chromosome-8q","display_name":"chromosome 8q","score":0.9739999771118164},{"id":"https://openalex.org/keywords/linkage-mapping","display_name":"linkage mapping","score":0.7160000205039978},{"id":"https://openalex.org/keywords/flanking-markers","display_name":"flanking markers","score":0.7509999871253967},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.6859999895095825},{"id":"https://openalex.org/keywords/autosomal-dominant-disorder","display_name":"autosomal dominant disorder","score":0.8100000023841858},{"id":"https://openalex.org/keywords/ear-malformations","display_name":"ear malformations","score":0.8799999952316284},{"id":"https://openalex.org/keywords/hearing-loss","display_name":"hearing loss","score":0.7519999742507935},{"id":"https://openalex.org/keywords/renal-anomalies","display_name":"renal anomalies","score":0.8970000147819519},{"id":"https://openalex.org/keywords/positional-cloning","display_name":"positional cloning","score":0.49399998784065247}],"concepts":[{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.7753326296806335},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7210535407066345},{"id":"https://openalex.org/C197754878","wikidata":"https://www.wikidata.org/wiki/Q80711","display_name":"Haplotype","level":4,"score":0.645538330078125},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.6322050094604492},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6256699562072754},{"id":"https://openalex.org/C190789776","wikidata":"https://www.wikidata.org/wiki/Q767511","display_name":"Genetic marker","level":3,"score":0.4942820072174072},{"id":"https://openalex.org/C122735190","wikidata":"https://www.wikidata.org/wiki/Q715789","display_name":"Gene mapping","level":4,"score":0.49386173486709595},{"id":"https://openalex.org/C3020804800","wikidata":"https://www.wikidata.org/wiki/Q5050812","display_name":"Positional cloning","level":4,"score":0.4593951404094696},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.38254618644714355},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.3248785138130188},{"id":"https://openalex.org/C135763542","wikidata":"https://www.wikidata.org/wiki/Q106016","display_name":"Genotype","level":3,"score":0.1346481740474701}],"mesh":[{"descriptor_ui":"D000015","descriptor_name":"Abnormalities, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D001934","descriptor_name":"Branchial Region","qualifier_ui":"Q000002","qualifier_name":"abnormalities","is_major_topic":true},{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002898","descriptor_name":"Chromosomes, Human, Pair 8","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D004423","descriptor_name":"Ear","qualifier_ui":"Q000002","qualifier_name":"abnormalities","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":"D007668","descriptor_name":"Kidney","qualifier_ui":"Q000002","qualifier_name":"abnormalities","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":"D010375","descriptor_name":"Pedigree","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D011110","descriptor_name":"Polymorphism, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012091","descriptor_name":"Repetitive Sequences, Nucleic Acid","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D013577","descriptor_name":"Syndrome","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D015894","descriptor_name":"Genome, Human","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D016133","descriptor_name":"Polymerase Chain Reaction","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":3,"locations":[{"id":"pmh:oai:pubmedcentral.nih.gov:1918457","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1918457","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Am J Hum Genet","raw_type":"Text"},{"id":"pmid:7977379","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7977379","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:54905336","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/7977379","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":{"id":"pmh:oai:pubmedcentral.nih.gov:1918457","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/1918457","pdf_url":null,"source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"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":"Am J Hum Genet","raw_type":"Text"},"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":0.6240000128746033,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G4191502365","display_name":"GENTICS OF USHER SYNDROME","funder_award_id":"P01DC001813","funder_id":"https://openalex.org/F4320337352","funder_display_name":"National Institute on Deafness and Other Communication Disorders"}],"funders":[{"id":"https://openalex.org/F4320337352","display_name":"National Institute on Deafness and Other Communication Disorders","ror":"https://ror.org/04mhx6838"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":23,"referenced_works":["https://openalex.org/W1549470101","https://openalex.org/W1977624875","https://openalex.org/W1979316144","https://openalex.org/W1981579363","https://openalex.org/W1982643091","https://openalex.org/W1987590454","https://openalex.org/W1988890659","https://openalex.org/W1989102350","https://openalex.org/W2004934654","https://openalex.org/W2009114031","https://openalex.org/W2012289827","https://openalex.org/W2021608281","https://openalex.org/W2032118018","https://openalex.org/W2058642876","https://openalex.org/W2061941091","https://openalex.org/W2074717738","https://openalex.org/W2095528260","https://openalex.org/W2117628908","https://openalex.org/W2141858057","https://openalex.org/W2145691849","https://openalex.org/W2400110400","https://openalex.org/W2413532391","https://openalex.org/W2418957458"],"related_works":["https://openalex.org/W2071309654","https://openalex.org/W2117628908","https://openalex.org/W270289447","https://openalex.org/W1970029754","https://openalex.org/W2007840429","https://openalex.org/W133947312","https://openalex.org/W2030719670","https://openalex.org/W2031376322","https://openalex.org/W2071068295","https://openalex.org/W2066820421"],"abstract_inverted_index":{"Branchio-oto-renal":[0],"syndrome":[1],"(BOR)":[2],"is":[3],"an":[4],"autosomal":[5],"dominant":[6],"disorder":[7],"associated":[8],"with":[9,80,97],"external-,":[10],"middle-,":[11],"and":[12,23,53,74,83,115,136,176],"inner-ear":[13],"malformations,":[14],"branchial":[15],"cleft":[16],"sinuses,":[17],"cervical":[18],"fistulas,":[19],"mixed":[20],"hearing":[21],"loss,":[22],"renal":[24],"anomalies.":[25],"The":[26,133,149],"gene":[27,96],"for":[28,46,171],"BOR":[29,51,95,131,147,179],"was":[30,58,89,126,151],"mapped":[31],"to":[32,92,153],"the":[33,54,64,94,146,161,178],"long":[34],"arm":[35],"of":[36,56,68,119,138],"chromosome":[37],"8q.":[38],"Several":[39],"polymorphic":[40,124],"dinucleotide":[41],"repeat":[42],"markers":[43,81,102,142,167],"were":[44],"investigated":[45],"linkage":[47,61,134],"in":[48,129],"two":[49],"large":[50],"families,":[52],"region":[55,100],"localization":[57],"refined.":[59],"Two-point":[60],"analysis":[62,88,118,135,137],"yielded":[63],"maximum":[65],"lod":[66],"scores":[67],"7.44":[69],"at":[70,76,122,156],"theta":[71,77],"=":[72,78],".03":[73],"6.71":[75],".04,":[79],"D8S279":[82],"D8S260,":[84,107],"respectively.":[85],"A":[86],"multipoint":[87],"carried":[90],"out":[91],"position":[93],"a":[98,169],"defined":[99],"using":[101],"D8S165,":[103],"D8S285,":[104],"PENK,":[105],"D8S166,":[106],"D8S279,":[108],"D8S164,":[109],"D8S286,":[110],"D8S84,":[111],"D8S275,":[112],"D8S167,":[113],"D8S273,":[114],"D8S271.":[116],"Haplotype":[117],"recombination":[120,139],"events":[121,140],"these":[123],"loci":[125],"also":[127],"performed":[128],"multigeneration":[130],"kindreds.":[132],"identified":[141],"that":[143],"clearly":[144],"flank":[145],"locus.":[148],"order":[150],"determined":[152],"be":[154],"D8S260-BOR-D8S279":[155],"odds":[157],">":[158],"10(3):1":[159],"over":[160],"other":[162],"possible":[163],"orders.":[164],"This":[165],"flanking":[166],"provide":[168],"resource":[170],"high-resolution":[172],"mapping":[173],"toward":[174],"cloning":[175],"characterizing":[177],"gene.":[180]},"counts_by_year":[],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}
