{"id":"https://openalex.org/W2330798445","doi":"https://doi.org/10.1056/nejm198604173141603","title":"Long-Term Follow-up of von Recklinghausen Neurofibromatosis","display_name":"Long-Term Follow-up of von Recklinghausen Neurofibromatosis","publication_year":1986,"publication_date":"1986-04-17","ids":{"openalex":"https://openalex.org/W2330798445","doi":"https://doi.org/10.1056/nejm198604173141603","mag":"2330798445","pmid":"https://pubmed.ncbi.nlm.nih.gov/3083258"},"language":"en","primary_location":{"id":"doi:10.1056/nejm198604173141603","doi":"https://doi.org/10.1056/nejm198604173141603","is_oa":false,"landing_page_url":"https://doi.org/10.1056/nejm198604173141603","pdf_url":null,"source":{"id":"https://openalex.org/S62468778","display_name":"New England Journal of Medicine","issn_l":"0028-4793","issn":["0028-4793","0096-6762","1533-4406","2331-4710"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320239","host_organization_name":"Massachusetts Medical Society","host_organization_lineage":["https://openalex.org/P4310320239"],"host_organization_lineage_names":["Massachusetts Medical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New England Journal of Medicine","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/A5113572102","display_name":"Sven Asger S\u00f8rensen","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Sven Asger S\u00f8rensen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5023876960","display_name":"John Joseph Mulvihill","orcid":"https://orcid.org/0000-0003-0437-0351","observed_orcids":["https://orcid.org/0000-0003-0437-0351","https://orcid.org/0000-0001-9505-0470"]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"John J. Mulvihill","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"last","author":{"id":"https://openalex.org/A5110350389","display_name":"Arne Nielsen","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Arne Nielsen","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]}],"institutions":[],"countries_distinct_count":0,"institutions_distinct_count":0,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":null,"apc_paid":null,"fwci":16.3251,"has_fulltext":false,"cited_by_count":620,"citation_normalized_percentile":{"value":0.99604209,"is_in_top_1_percent":true,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":98,"max":100},"biblio":{"volume":"314","issue":"16","first_page":"1010","last_page":"1015"},"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":"Clinical 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":"Clinical 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/T12226","display_name":"Neuroblastoma Research and Treatments","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2730","display_name":"Oncology"},"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"}}],"keywords":[{"id":"https://openalex.org/keywords/von-recklinghausen-neurofibromatosis","display_name":"von Recklinghausen neurofibromatosis","score":0.9599999785423279},{"id":"https://openalex.org/keywords/neurofibromatosis-type-1","display_name":"neurofibromatosis type 1","score":0.9470000267028809},{"id":"https://openalex.org/keywords/natural-history-disease","display_name":"natural history (disease)","score":0.9470000267028809},{"id":"https://openalex.org/keywords/survival","display_name":"survival","score":0.6859999895095825},{"id":"https://openalex.org/keywords/cancer","display_name":"cancer","score":0.8600000143051147},{"id":"https://openalex.org/keywords/central-nervous-system-tumors","display_name":"central nervous system tumors","score":0.9390000104904175},{"id":"https://openalex.org/keywords/multiple-primary-neoplasms","display_name":"multiple primary neoplasms","score":0.9929999709129333},{"id":"https://openalex.org/keywords/sex-differences","display_name":"sex differences","score":0.8009999990463257},{"id":"https://openalex.org/keywords/familial-neurofibromatosis","display_name":"familial neurofibromatosis","score":0.6819999814033508},{"id":"https://openalex.org/keywords/prognosis","display_name":"prognosis","score":0.5189999938011169},{"id":"https://openalex.org/keywords/long-term-follow-up","display_name":"long-term follow-up","score":0.7009999752044678}],"concepts":[{"id":"https://openalex.org/C2778984943","wikidata":"https://www.wikidata.org/wiki/Q847605","display_name":"Neurofibromatosis","level":2,"score":0.9128592014312744},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8665854930877686},{"id":"https://openalex.org/C188997412","wikidata":"https://www.wikidata.org/wiki/Q1640386","display_name":"Proband","level":4,"score":0.774134635925293},{"id":"https://openalex.org/C82789193","wikidata":"https://www.wikidata.org/wiki/Q2142611","display_name":"Relative risk","level":3,"score":0.570896565914154},{"id":"https://openalex.org/C2908647359","wikidata":"https://www.wikidata.org/wiki/Q2625603","display_name":"Population","level":2,"score":0.5599445700645447},{"id":"https://openalex.org/C187212893","wikidata":"https://www.wikidata.org/wiki/Q123028","display_name":"Pediatrics","level":1,"score":0.48892226815223694},{"id":"https://openalex.org/C2909023644","wikidata":"https://www.wikidata.org/wiki/Q847605","display_name":"Neurofibromatoses","level":3,"score":0.46476826071739197},{"id":"https://openalex.org/C44249647","wikidata":"https://www.wikidata.org/wiki/Q208498","display_name":"Confidence interval","level":2,"score":0.4607039988040924},{"id":"https://openalex.org/C72563966","wikidata":"https://www.wikidata.org/wiki/Q1303415","display_name":"Cohort","level":2,"score":0.4410468339920044},{"id":"https://openalex.org/C141071460","wikidata":"https://www.wikidata.org/wiki/Q40821","display_name":"Surgery","level":1,"score":0.334025114774704},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.312600314617157},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.16536539793014526},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.08958497643470764},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.0},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.0},{"id":"https://openalex.org/C99454951","wikidata":"https://www.wikidata.org/wiki/Q932068","display_name":"Environmental health","level":1,"score":0.0},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.0}],"mesh":[{"descriptor_ui":"D001932","descriptor_name":"Brain Neoplasms","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D003718","descriptor_name":"Denmark","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":"D005500","descriptor_name":"Follow-Up Studies","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D005910","descriptor_name":"Glioma","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","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":"D009378","descriptor_name":"Neoplasms, Multiple Primary","qualifier_ui":"Q000453","qualifier_name":"epidemiology","is_major_topic":true},{"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":"Q000401","qualifier_name":"mortality","is_major_topic":true},{"descriptor_ui":"D011379","descriptor_name":"Prognosis","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},{"descriptor_ui":"D012737","descriptor_name":"Sex Factors","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D012878","descriptor_name":"Skin Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D012878","descriptor_name":"Skin Neoplasms","qualifier_ui":"Q000401","qualifier_name":"mortality","is_major_topic":true}],"locations_count":2,"locations":[{"id":"doi:10.1056/nejm198604173141603","doi":"https://doi.org/10.1056/nejm198604173141603","is_oa":false,"landing_page_url":"https://doi.org/10.1056/nejm198604173141603","pdf_url":null,"source":{"id":"https://openalex.org/S62468778","display_name":"New England Journal of Medicine","issn_l":"0028-4793","issn":["0028-4793","0096-6762","1533-4406","2331-4710"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["anvur-class-a","anvur-scientific","cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320239","host_organization_name":"Massachusetts Medical Society","host_organization_lineage":["https://openalex.org/P4310320239"],"host_organization_lineage_names":["Massachusetts Medical Society"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"New England Journal of Medicine","raw_type":"journal-article"},{"id":"pmid:3083258","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/3083258","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 New England journal of medicine","raw_type":"Journal Article"}],"best_oa_location":null,"sustainable_development_goals":[{"id":"https://metadata.un.org/sdg/3","score":1.0,"display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[],"funders":[],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":21,"referenced_works":["https://openalex.org/W222000146","https://openalex.org/W616765141","https://openalex.org/W1525542128","https://openalex.org/W1976306349","https://openalex.org/W1996504520","https://openalex.org/W1997520953","https://openalex.org/W1999871982","https://openalex.org/W2007012469","https://openalex.org/W2009468949","https://openalex.org/W2013386968","https://openalex.org/W2031165281","https://openalex.org/W2034480902","https://openalex.org/W2043741702","https://openalex.org/W2055236783","https://openalex.org/W2069371521","https://openalex.org/W2070022859","https://openalex.org/W2094567286","https://openalex.org/W2335805269","https://openalex.org/W2338393274","https://openalex.org/W2343551766","https://openalex.org/W2408784829"],"related_works":["https://openalex.org/W2397290044","https://openalex.org/W2443045537","https://openalex.org/W2021563188","https://openalex.org/W2131532433","https://openalex.org/W2045375468","https://openalex.org/W7119061091","https://openalex.org/W2236735910","https://openalex.org/W2281622239","https://openalex.org/W2418141464","https://openalex.org/W1548239972"],"abstract_inverted_index":{"To":[0,53],"document":[1],"the":[2,63,73,106,140,148],"natural":[3],"history":[4],"of":[5,15,48,51,57,105,112,151],"von":[6],"Recklinghausen":[7],"neurofibromatosis,":[8,84],"we":[9,60],"followed":[10],"up":[11],"a":[12,45,70,109,157,185,194],"nationwide":[13],"cohort":[14],"212":[16],"affected":[17,67],"patients":[18,177],"and":[19,65,88],"families":[20],"identified":[21,39],"in":[22,81,86,90,102,131],"Denmark":[23],"42":[24],"years":[25],"ago.":[26],"We":[27,174],"obtained":[28],"follow-up":[29],"information":[30],"on":[31],"99":[32],"percent.":[33],"Because":[34],"all":[35],"76":[36],"probands":[37,64],"were":[38,78,129,171],"through":[40],"hospitals,":[41],"they":[42],"may":[43,192],"include":[44],"disproportionate":[46],"number":[47],"severe":[49,179],"cases":[50],"neurofibromatosis.":[52],"diminish":[54],"this":[55],"effect":[56],"selection":[58],"bias,":[59],"distinguished":[61],"between":[62],"their":[66],"relatives.":[68],"In":[69],"comparison":[71],"with":[72,83,123,139,145,178],"general":[74,141],"population,":[75,142],"survival":[76],"rates":[77],"significantly":[79],"impaired":[80],"relatives":[82,144,155,191],"worse":[85],"probands,":[87,107,133],"worst":[89],"female":[91,154],"probands.":[92],"Malignant":[93],"neoplasms":[94,128],"or":[95],"benign":[96],"central":[97],"nervous":[98],"system":[99,169],"tumors":[100,170],"occurred":[101],"45":[103],"percent":[104,115],"giving":[108],"relative":[110],"risk":[111],"4.0":[113],"(95":[114],"confidence":[116],"limits,":[117],"2.8":[118],"to":[119,166],"5.6)":[120],"as":[121],"compared":[122],"expected":[124],"numbers.":[125],"Multiple":[126],"primary":[127],"found":[130],"15":[132],"but":[134,188],"only":[135],"1":[136],"relative.":[137],"Compared":[138],"male":[143],"neurofibromatosis":[146,180],"had":[147,156],"same":[149],"rate":[150,161],"neoplasms,":[152],"whereas":[153],"nearly":[158],"twofold":[159],"higher":[160],"(relative":[162],"risk,":[163],"1.9;":[164],"1.1":[165],"3.1).":[167],"Nervous":[168],"disproportionately":[172],"represented.":[173],"conclude":[175],"that":[176],"requiring":[181],"hospitalization":[182],"often":[183],"have":[184,193],"poor":[186],"prognosis,":[187],"incidentally":[189],"diagnosed":[190],"considerably":[195],"better":[196],"outcome.":[197]},"counts_by_year":[{"year":2026,"cited_by_count":5},{"year":2025,"cited_by_count":6},{"year":2024,"cited_by_count":11},{"year":2023,"cited_by_count":11},{"year":2022,"cited_by_count":14},{"year":2021,"cited_by_count":7},{"year":2020,"cited_by_count":16},{"year":2019,"cited_by_count":16},{"year":2018,"cited_by_count":9},{"year":2017,"cited_by_count":13},{"year":2016,"cited_by_count":17},{"year":2015,"cited_by_count":11},{"year":2014,"cited_by_count":18},{"year":2013,"cited_by_count":18},{"year":2012,"cited_by_count":32}],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2016-06-24T00:00:00"}