{"id":"https://openalex.org/W1004125760","doi":null,"title":"A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene.","display_name":"A refined genetic map of the region of chromosome 17 surrounding the von Recklinghausen neurofibromatosis (NF1) gene.","publication_year":1989,"publication_date":"1989-01-01","ids":{"openalex":"https://openalex.org/W1004125760","mag":"1004125760","pmid":"https://pubmed.ncbi.nlm.nih.gov/2491779","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/1715450"},"language":"en","primary_location":{"id":"pmid:2491779","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2491779","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","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/A5109829051","display_name":"ScottR. Diehl","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I27837315","display_name":"University of Michigan","ror":"https://ror.org/00jmfr291","country_code":"US","type":"education","lineage":["https://openalex.org/I27837315"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"S R Diehl","raw_affiliation_strings":["Department of Human Genetics, University of Michigan, Ann Arbor"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Human Genetics, University of Michigan, Ann Arbor","institution_ids":["https://openalex.org/I27837315"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5003810507","display_name":"Michael Boehnke","orcid":"https://orcid.org/0000-0002-6442-7754","observed_orcids":["https://orcid.org/0000-0002-6442-7754"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Boehnke","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5026792268","display_name":"R P Erickson","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"R P Erickson","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029842398","display_name":"L M Ploughman","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"L M Ploughman","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5031950085","display_name":"Kathy Seiler","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"K A Seiler","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5062368087","display_name":"J.L. Lieberman","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"J L Lieberman","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006224315","display_name":"H B Clarke","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"H B Clarke","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5014202497","display_name":"M A Bruce","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M A Bruce","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5065177203","display_name":"Elizabeth K. Schorry","orcid":"https://orcid.org/0000-0002-8306-3490","observed_orcids":["https://orcid.org/0000-0002-8306-3490"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"E K Schorry","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5069324665","display_name":"Margaret Ann Pericak\u2010Vance","orcid":"https://orcid.org/0000-0001-7283-8804","observed_orcids":["https://orcid.org/0000-0001-7283-8804","https://orcid.org/0000-0002-3309-1303"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"M Pericak-Vance","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":2.2797,"has_fulltext":false,"cited_by_count":11,"citation_normalized_percentile":{"value":0.87061087,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":90,"max":97},"biblio":{"volume":"44","issue":"1","first_page":"33","last_page":"7"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"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/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":0.9994999766349792,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"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/T12331","display_name":"Hereditary Neurological Disorders","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12226","display_name":"Neuroblastoma Research and Treatments","score":9.999999747378752e-05,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/von-recklinghausen-neurofibromatosis","display_name":"von Recklinghausen neurofibromatosis","score":0.9470000267028809},{"id":"https://openalex.org/keywords/nf1-gene","display_name":"NF1 gene","score":0.949999988079071},{"id":"https://openalex.org/keywords/chromosome-17q","display_name":"chromosome 17q","score":0.8550000190734863},{"id":"https://openalex.org/keywords/linkage-mapping","display_name":"linkage mapping","score":0.6909999847412109},{"id":"https://openalex.org/keywords/pericentromeric-regions","display_name":"pericentromeric regions","score":0.9049999713897705},{"id":"https://openalex.org/keywords/recombination","display_name":"recombination","score":0.6079999804496765},{"id":"https://openalex.org/keywords/locus-heterogeneity","display_name":"locus heterogeneity","score":0.6790000200271606},{"id":"https://openalex.org/keywords/family-based-linkage-analysis","display_name":"family-based linkage analysis","score":0.47999998927116394}],"concepts":[{"id":"https://openalex.org/C2910653347","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Recombination Fraction","level":5,"score":0.9502010345458984},{"id":"https://openalex.org/C2778984943","wikidata":"https://www.wikidata.org/wiki/Q847605","display_name":"Neurofibromatosis","level":2,"score":0.7372158169746399},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.7337755560874939},{"id":"https://openalex.org/C84597430","wikidata":"https://www.wikidata.org/wiki/Q106227","display_name":"Locus (genetics)","level":3,"score":0.7071055769920349},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6202119588851929},{"id":"https://openalex.org/C190789776","wikidata":"https://www.wikidata.org/wiki/Q767511","display_name":"Genetic marker","level":3,"score":0.600236177444458},{"id":"https://openalex.org/C142870003","wikidata":"https://www.wikidata.org/wiki/Q843863","display_name":"Genetic linkage","level":3,"score":0.5712343454360962},{"id":"https://openalex.org/C30481170","wikidata":"https://www.wikidata.org/wiki/Q37748","display_name":"Chromosome","level":3,"score":0.5627440214157104},{"id":"https://openalex.org/C122735190","wikidata":"https://www.wikidata.org/wiki/Q715789","display_name":"Gene mapping","level":4,"score":0.5477991104125977},{"id":"https://openalex.org/C156695909","wikidata":"https://www.wikidata.org/wiki/Q3373825","display_name":"Recombination","level":3,"score":0.4674832224845886},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.4601188004016876},{"id":"https://openalex.org/C167752854","wikidata":"https://www.wikidata.org/wiki/Q220677","display_name":"Chromosome 17 (human)","level":4,"score":0.44100192189216614},{"id":"https://openalex.org/C174553679","wikidata":"https://www.wikidata.org/wiki/Q4388138","display_name":"Gene map","level":5,"score":0.43777233362197876}],"mesh":[{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002886","descriptor_name":"Chromosomes, Human, Pair 17","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":"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":false},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D011995","descriptor_name":"Recombination, Genetic","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"pmid:2491779","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2491779","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:1004125760","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/2491779","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":0.8371999859809875}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W96717503","https://openalex.org/W135244689","https://openalex.org/W1518167795","https://openalex.org/W1605698134","https://openalex.org/W1643869946","https://openalex.org/W1690628567","https://openalex.org/W1871076451","https://openalex.org/W1975882737","https://openalex.org/W1981130645","https://openalex.org/W1990880437","https://openalex.org/W1994896677","https://openalex.org/W2010527681","https://openalex.org/W2031131709","https://openalex.org/W2080788348","https://openalex.org/W2090485194","https://openalex.org/W2098557215","https://openalex.org/W2105206581","https://openalex.org/W2136208548","https://openalex.org/W2161024497","https://openalex.org/W2161684975","https://openalex.org/W2171642605"],"related_works":["https://openalex.org/W2105206581","https://openalex.org/W1862270421","https://openalex.org/W1871076451","https://openalex.org/W2005684129","https://openalex.org/W2161684975","https://openalex.org/W2171642605","https://openalex.org/W2031131709","https://openalex.org/W2057502950","https://openalex.org/W51568895","https://openalex.org/W1990055352"],"abstract_inverted_index":{"The":[0,59],"von":[1],"Recklinghausen":[2],"neurofibromatosis":[3],"(NF1)":[4],"gene":[5,172],"has":[6],"been":[7],"mapped":[8],"to":[9,115,173],"the":[10,90,116,131,167,170],"pericentromeric":[11],"region":[12],"of":[13,20,89,97,106,123,126,138,144,153,160,169],"chromosome":[14,175],"17.":[15],"We":[16,32,119,156],"conducted":[17],"linkage":[18],"analyses":[19],"NF1":[21,37,42,78,117,129,171],"by":[22],"using":[23],"10":[24],"polymorphic":[25],"DNA":[26],"markers":[27,61,111],"from":[28],"this":[29,65],"chromosomal":[30],"region.":[31],"ascertained":[33,54],"20":[34],"American":[35],"Caucasian":[36],"families":[38],"(163":[39],"individuals,":[40],"98":[41],"affected)":[43],"in":[44,56,64,87],"Michigan":[45],"and":[46,48,76,99,130,163],"Ohio":[47],"also":[49,120],"studied":[50],"a":[51,103,141],"large":[52],"family":[53],"primarily":[55],"North":[57],"Carolina.":[58],"following":[60],"were":[62],"used":[63],"study:":[66],"HHH202,":[67],"TH17.19,":[68],"D17Z1,":[69],"ERBA1,":[70],"EW203,":[71],"EW206,":[72],"EW207,":[73],"EW301,":[74],"CRI-L581,":[75],"CRI-L946.":[77],"did":[79],"not":[80],"recombine":[81],"with":[82],"either":[83],"TH17.19":[84],"or":[85],"HHH202":[86],"any":[88],"informative":[91],"meioses":[92],"surveyed":[93],"(maximum":[94,135],"lod":[95,136],"scores":[96],"17.04":[98],"7.21,":[100],"respectively,":[101],"at":[102,140],"recombination":[104,127,142],"fraction":[105,143],".00),":[107],"indicating":[108],"that":[109],"these":[110],"map":[112],"very":[113],"close":[114],"gene.":[118],"report":[121],"evidence":[122,159],"three":[124],"instances":[125],"between":[128,151],"centromeric":[132],"marker":[133,154],"D17Z1":[134],"score":[137],"13.43":[139],".04),":[145],"as":[146,148],"well":[147],"two":[149],"crossovers":[150],"pairs":[152],"loci.":[155],"find":[157],"no":[158],"locus":[161],"heterogeneity,":[162],"our":[164],"results":[165],"support":[166],"localization":[168],"proximal":[174],"17q.":[176]},"counts_by_year":[{"year":2025,"cited_by_count":1},{"year":2013,"cited_by_count":3}],"updated_date":"2026-10-31T12:09:11.096373","created_date":"2016-06-24T00:00:00"}