{"id":"https://openalex.org/W1991123791","doi":"https://doi.org/10.1111/j.1346-8138.1992.tb03798.x","title":"Nosological Considerations of the Neurofibromatoses","display_name":"Nosological Considerations of the Neurofibromatoses","publication_year":1992,"publication_date":"1992-11-01","ids":{"openalex":"https://openalex.org/W1991123791","doi":"https://doi.org/10.1111/j.1346-8138.1992.tb03798.x","mag":"1991123791","pmid":"https://pubmed.ncbi.nlm.nih.gov/1293176"},"language":"en","primary_location":{"id":"doi:10.1111/j.1346-8138.1992.tb03798.x","doi":"https://doi.org/10.1111/j.1346-8138.1992.tb03798.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1346-8138.1992.tb03798.x","pdf_url":null,"source":{"id":"https://openalex.org/S143887118","display_name":"The Journal of Dermatology","issn_l":"0385-2407","issn":["0385-2407","1346-8138"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Dermatology","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/A5039716945","display_name":"David H. Viskochil","orcid":"https://orcid.org/0000-0001-5364-3366","observed_orcids":["https://orcid.org/0000-0001-5364-3366"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"David Viskochil","raw_affiliation_strings":["Division of Medical Genetics, Department of Pediatrics University of Utah Salt Lake City Utah 84132 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Pediatrics University of Utah Salt Lake City Utah 84132 USA","institution_ids":["https://openalex.org/I223532165"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5012216196","display_name":"John C. Carey","orcid":"https://orcid.org/0000-0002-6007-8518","observed_orcids":["https://orcid.org/0000-0002-6007-8518"]},"institutions":[{"id":"https://openalex.org/I223532165","display_name":"University of Utah","ror":"https://ror.org/03r0ha626","country_code":"US","type":"education","lineage":["https://openalex.org/I223532165"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"John C. Carey","raw_affiliation_strings":["Division of Medical Genetics, Department of Pediatrics University of Utah Salt Lake City Utah 84132 USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Division of Medical Genetics, Department of Pediatrics University of Utah Salt Lake City Utah 84132 USA","institution_ids":["https://openalex.org/I223532165"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":1,"corresponding_author_ids":[],"corresponding_institution_ids":["https://openalex.org/I223532165"],"apc_list":{"value":3630,"currency":"USD","value_usd":3630},"apc_paid":null,"fwci":0.0,"has_fulltext":false,"cited_by_count":17,"citation_normalized_percentile":{"value":0.09287289,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":94},"biblio":{"volume":"19","issue":"11","first_page":"873","last_page":"880"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T11173","display_name":"Neurofibromatosis and Schwannoma Cases","score":1.0,"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":1.0,"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":0.0,"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":0.0,"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/neurofibromatosis","display_name":"neurofibromatosis","score":0.828000009059906},{"id":"https://openalex.org/keywords/neurofibromatosis-type-1","display_name":"neurofibromatosis type 1","score":0.9629999995231628},{"id":"https://openalex.org/keywords/neurofibromatosis-type-2","display_name":"neurofibromatosis type 2","score":1.0},{"id":"https://openalex.org/keywords/disease-classification","display_name":"disease classification","score":0.7850000262260437},{"id":"https://openalex.org/keywords/neurofibromin","display_name":"neurofibromin","score":0.9279999732971191},{"id":"https://openalex.org/keywords/nf1-gene","display_name":"NF1 gene","score":0.6359999775886536},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"genetic linkage","score":0.6679999828338623},{"id":"https://openalex.org/keywords/familial-case","display_name":"familial case","score":0.5870000123977661},{"id":"https://openalex.org/keywords/molecular-classification","display_name":"molecular classification","score":0.7350000143051147},{"id":"https://openalex.org/keywords/mutation-detection","display_name":"mutation detection","score":0.5109999775886536}],"concepts":[{"id":"https://openalex.org/C2991991741","wikidata":"https://www.wikidata.org/wiki/Q188025","display_name":"Salt lake","level":3,"score":0.8207637071609497},{"id":"https://openalex.org/C161191863","wikidata":"https://www.wikidata.org/wiki/Q199655","display_name":"Library science","level":1,"score":0.5600247383117676},{"id":"https://openalex.org/C2778805511","wikidata":"https://www.wikidata.org/wiki/Q1713","display_name":"Citation","level":2,"score":0.49296045303344727},{"id":"https://openalex.org/C15744967","wikidata":"https://www.wikidata.org/wiki/Q9418","display_name":"Psychology","level":0,"score":0.3563230633735657},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.3370247483253479},{"id":"https://openalex.org/C95457728","wikidata":"https://www.wikidata.org/wiki/Q309","display_name":"History","level":0,"score":0.3257368803024292},{"id":"https://openalex.org/C41008148","wikidata":"https://www.wikidata.org/wiki/Q21198","display_name":"Computer science","level":0,"score":0.12168329954147339},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0964595377445221},{"id":"https://openalex.org/C151730666","wikidata":"https://www.wikidata.org/wiki/Q7205","display_name":"Paleontology","level":1,"score":0.0},{"id":"https://openalex.org/C109007969","wikidata":"https://www.wikidata.org/wiki/Q749565","display_name":"Structural basin","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D003937","descriptor_name":"Diagnosis, Differential","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":"D006801","descriptor_name":"Humans","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":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D009456","descriptor_name":"Neurofibromatosis 1","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016518","descriptor_name":"Neurofibromatosis 2","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D016518","descriptor_name":"Neurofibromatosis 2","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D016518","descriptor_name":"Neurofibromatosis 2","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D016518","descriptor_name":"Neurofibromatosis 2","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D016518","descriptor_name":"Neurofibromatosis 2","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D016518","descriptor_name":"Neurofibromatosis 2","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D016518","descriptor_name":"Neurofibromatosis 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016518","descriptor_name":"Neurofibromatosis 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D016518","descriptor_name":"Neurofibromatosis 2","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017253","descriptor_name":"Neurofibromatoses","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D017253","descriptor_name":"Neurofibromatoses","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D017253","descriptor_name":"Neurofibromatoses","qualifier_ui":"Q000145","qualifier_name":"classification","is_major_topic":false},{"descriptor_ui":"D017253","descriptor_name":"Neurofibromatoses","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D017253","descriptor_name":"Neurofibromatoses","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D017253","descriptor_name":"Neurofibromatoses","qualifier_ui":"Q000175","qualifier_name":"diagnosis","is_major_topic":false},{"descriptor_ui":"D017253","descriptor_name":"Neurofibromatoses","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017253","descriptor_name":"Neurofibromatoses","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D017253","descriptor_name":"Neurofibromatoses","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1111/j.1346-8138.1992.tb03798.x","doi":"https://doi.org/10.1111/j.1346-8138.1992.tb03798.x","is_oa":false,"landing_page_url":"https://doi.org/10.1111/j.1346-8138.1992.tb03798.x","pdf_url":null,"source":{"id":"https://openalex.org/S143887118","display_name":"The Journal of Dermatology","issn_l":"0385-2407","issn":["0385-2407","1346-8138"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310320595","host_organization_name":"Wiley","host_organization_lineage":["https://openalex.org/P4310320595"],"host_organization_lineage_names":["Wiley"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"The Journal of Dermatology","raw_type":"journal-article"},{"id":"pmid:1293176","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1293176","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":"The Journal of dermatology","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being","score":0.9391000270843506}],"sustainable_development_goals_aurora":[],"study_designs":[],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":51,"referenced_works":["https://openalex.org/W222000146","https://openalex.org/W1511935542","https://openalex.org/W1903452201","https://openalex.org/W1968790666","https://openalex.org/W1971602793","https://openalex.org/W1972651910","https://openalex.org/W1973573177","https://openalex.org/W1974820282","https://openalex.org/W1979687090","https://openalex.org/W1987661200","https://openalex.org/W1988251692","https://openalex.org/W1991880889","https://openalex.org/W1993458150","https://openalex.org/W1994651165","https://openalex.org/W2005119506","https://openalex.org/W2011276874","https://openalex.org/W2011588689","https://openalex.org/W2012871756","https://openalex.org/W2017898627","https://openalex.org/W2021094426","https://openalex.org/W2022971724","https://openalex.org/W2023490184","https://openalex.org/W2030607815","https://openalex.org/W2039299312","https://openalex.org/W2044356784","https://openalex.org/W2049181650","https://openalex.org/W2059115525","https://openalex.org/W2068958706","https://openalex.org/W2070452292","https://openalex.org/W2071893342","https://openalex.org/W2077046275","https://openalex.org/W2085792148","https://openalex.org/W2086862886","https://openalex.org/W2089226567","https://openalex.org/W2090331818","https://openalex.org/W2117400862","https://openalex.org/W2123695239","https://openalex.org/W2123992733","https://openalex.org/W2135206307","https://openalex.org/W2138616826","https://openalex.org/W2151067616","https://openalex.org/W2159096148","https://openalex.org/W2337777109","https://openalex.org/W2396781034","https://openalex.org/W2403761991","https://openalex.org/W2411328712","https://openalex.org/W2416198848","https://openalex.org/W3036997304","https://openalex.org/W4250785715","https://openalex.org/W4253368897","https://openalex.org/W4302308496"],"related_works":["https://openalex.org/W2431143824","https://openalex.org/W4390063124","https://openalex.org/W1974511488","https://openalex.org/W2803001740","https://openalex.org/W2042471077","https://openalex.org/W7062143539","https://openalex.org/W2965656676","https://openalex.org/W4400469111","https://openalex.org/W4292547597","https://openalex.org/W3119196088"],"abstract_inverted_index":{"We":[0],"are":[1],"on":[2],"the":[3,7,18,37,40,54,69,77,100,105,118,121,135,152,155,166],"threshold":[4],"of":[5,17,22,28,39,43,64,73,79,116,120,124,138,154,165],"evaluating":[6,61],"NF1":[8,106,167],"and":[9,26,145,168],"NF2":[10,50,169],"loci":[11],"with":[12,68,84],"respect":[13],"to":[14,49,104],"variant":[15,41,51,62,122,136],"forms":[16,42,52,63,123,137],"neurofibromatoses.":[19],"Genetic":[20],"mapping":[21,58,103],"NF1,":[23,91],"gene":[24],"cloning":[25],"characterization":[27],"its":[29],"encoded":[30],"product,":[31],"neurofibromin,":[32],"provides":[33],"a":[34,94,130],"framework":[35],"for":[36,112,134],"evaluation":[38],"NF.":[44,125],"This":[45],"may":[46],"also":[47],"apply":[48],"in":[53,60,82,99,114],"near":[55],"future.":[56],"The":[57],"approach":[59],"NF":[65],"should":[66,128],"begin":[67],"rigorous":[70],"clinical":[71],"assessment":[72],"familial":[74],"cases":[75],"whereby":[76],"establishment":[78],"genetic":[80],"linkage":[81],"families":[83],"overlap":[85],"syndromes":[86],"might":[87],"determine":[88],"if":[89],"either":[90],"NF2,":[92],"or":[93],"separate":[95],"locus":[96,107],"is":[97,149,163],"involved":[98],"phenotype.":[101],"Conditions":[102],"could":[108],"then":[109],"be":[110],"screened":[111],"mutations":[113],"hopes":[115],"identifying":[117],"etiologies":[119],"Mutation":[126],"identification":[127],"provide":[129],"molecular-based":[131],"classification":[132],"scheme":[133],"NF,":[139],"now":[140],"tentatively":[141],"divided":[142],"into":[143],"alternative":[144],"related":[146],"forms.":[147],"It":[148],"expected":[150],"that":[151],"nosology":[153],"neurofibromatoses":[156],"will":[157],"most":[158],"certainly":[159],"change":[160],"as":[161],"more":[162],"learned":[164],"loci.":[170]},"counts_by_year":[{"year":2024,"cited_by_count":1},{"year":2016,"cited_by_count":1}],"updated_date":"2026-10-30T12:39:25.321706","created_date":"2016-06-24T00:00:00"}
