{"id":"https://openalex.org/W2019196273","doi":"https://doi.org/10.1002/(sici)1096-8628(19990101)82:1<77::aid-ajmg15>3.0.co;2-a","title":"Genetic mapping of a novel familial form of infantile hemangioma","display_name":"Genetic mapping of a novel familial form of infantile hemangioma","publication_year":1999,"publication_date":"1999-01-01","ids":{"openalex":"https://openalex.org/W2019196273","doi":"https://doi.org/10.1002/(sici)1096-8628(19990101)82:1<77::aid-ajmg15>3.0.co;2-a","mag":"2019196273","pmid":"https://pubmed.ncbi.nlm.nih.gov/9916848"},"language":"en","primary_location":{"id":"doi:10.1002/(sici)1096-8628(19990101)82:1<77::aid-ajmg15>3.0.co;2-a","doi":"https://doi.org/10.1002/(sici)1096-8628(19990101)82:1<77::aid-ajmg15>3.0.co;2-a","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19990101)82:1<77::aid-ajmg15>3.0.co;2-a","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-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":"American Journal of Medical Genetics","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/A5041643098","display_name":"Jeffrey W. Walter","orcid":"https://orcid.org/0000-0001-5570-285X","observed_orcids":["https://orcid.org/0000-0001-5570-285X"]},"institutions":[{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jeffrey W. Walter","raw_affiliation_strings":["Department of Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA","Department of Genetics, Duke University Medical Center, Durham, North Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Duke University Medical Center, Durham, North Carolina 27710, USA","institution_ids":["https://openalex.org/I4210126298"]},{"raw_affiliation_string":"Department of Genetics, Duke University Medical Center, Durham, North Carolina","institution_ids":["https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5004367674","display_name":"Francine Blei","orcid":"https://orcid.org/0000-0001-6726-2361","observed_orcids":["https://orcid.org/0000-0001-6726-2361"]},"institutions":[{"id":"https://openalex.org/I4210086933","display_name":"NYU Langone Health","ror":"https://ror.org/005dvqh91","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210086933"]},{"id":"https://openalex.org/I57206974","display_name":"New York University","ror":"https://ror.org/0190ak572","country_code":"US","type":"education","lineage":["https://openalex.org/I57206974"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Francine Blei","raw_affiliation_strings":["Department of Pediatrics, New York University Medical Center, New York, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, New York University Medical Center, New York, New York","institution_ids":["https://openalex.org/I4210086933","https://openalex.org/I57206974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091645375","display_name":"Jennifer Anderson","orcid":"https://orcid.org/0000-0002-0713-6897","observed_orcids":["https://orcid.org/0000-0002-0713-6897"]},"institutions":[{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]},{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Jennifer L. Anderson","raw_affiliation_strings":["Section of Medical Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section of Medical Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina","institution_ids":["https://openalex.org/I170897317","https://openalex.org/I4210126298"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059394217","display_name":"Seth J. Orlow","orcid":"https://orcid.org/0000-0003-2548-7380","observed_orcids":["https://orcid.org/0000-0003-2548-7380"]},"institutions":[{"id":"https://openalex.org/I4210086933","display_name":"NYU Langone Health","ror":"https://ror.org/005dvqh91","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210086933"]},{"id":"https://openalex.org/I57206974","display_name":"New York University","ror":"https://ror.org/0190ak572","country_code":"US","type":"education","lineage":["https://openalex.org/I57206974"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Seth J. Orlow","raw_affiliation_strings":["Department of Dermatology, New York University Medical Center, New York, New York","Department of Pediatrics, New York University Medical Center, New York, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Dermatology, New York University Medical Center, New York, New York","institution_ids":["https://openalex.org/I4210086933","https://openalex.org/I57206974"]},{"raw_affiliation_string":"Department of Pediatrics, New York University Medical Center, New York, New York","institution_ids":["https://openalex.org/I4210086933","https://openalex.org/I57206974"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111604618","display_name":"Marcy C. Speer","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I170897317","display_name":"Duke University","ror":"https://ror.org/00py81415","country_code":"US","type":"education","lineage":["https://openalex.org/I170897317"]},{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Marcy C. Speer","raw_affiliation_strings":["Section of Medical Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Section of Medical Genetics, Department of Medicine, Duke University Medical Center, Durham, North Carolina","institution_ids":["https://openalex.org/I170897317","https://openalex.org/I4210126298"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5085307581","display_name":"Douglas A. Marchuk","orcid":"https://orcid.org/0000-0002-3110-6671","observed_orcids":["https://orcid.org/0000-0002-3110-6671"]},"institutions":[{"id":"https://openalex.org/I4210126298","display_name":"Duke Medical Center","ror":"https://ror.org/03njmea73","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210126298","https://openalex.org/I4210144876"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"Douglas A. Marchuk","raw_affiliation_strings":["Department of Genetics, Duke University Medical Center, Durham, North Carolina"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Genetics, Duke University Medical Center, Durham, North Carolina","institution_ids":["https://openalex.org/I4210126298"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5085307581"],"corresponding_institution_ids":["https://openalex.org/I4210126298"],"apc_list":null,"apc_paid":null,"fwci":11.4482,"has_fulltext":false,"cited_by_count":171,"citation_normalized_percentile":{"value":0.9896786,"is_in_top_1_percent":false,"is_in_top_10_percent":true},"cited_by_percentile_year":{"min":93,"max":99},"biblio":{"volume":"82","issue":"1","first_page":"77","last_page":"83"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10980","display_name":"Vascular Malformations and Hemangiomas","score":0.9994999766349792,"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/T10980","display_name":"Vascular Malformations and Hemangiomas","score":0.9994999766349792,"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/T10422","display_name":"Angiogenesis and VEGF in Cancer","score":0.0,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"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/T11213","display_name":"Genomic variations and chromosomal abnormalities","score":0.0,"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/infantile-hemangioma","display_name":"infantile hemangioma","score":0.984000027179718},{"id":"https://openalex.org/keywords/genetic-linkage","display_name":"genetic linkage","score":0.734000027179718},{"id":"https://openalex.org/keywords/chromosome-5q","display_name":"chromosome 5q","score":0.906000018119812},{"id":"https://openalex.org/keywords/locus-heterogeneity","display_name":"locus heterogeneity","score":0.8330000042915344},{"id":"https://openalex.org/keywords/haplotype-analysis","display_name":"haplotype analysis","score":0.7670000195503235},{"id":"https://openalex.org/keywords/fgfr4","display_name":"FGFR4","score":0.8939999938011169},{"id":"https://openalex.org/keywords/vegfr-3","display_name":"VEGFR-3","score":0.9869999885559082},{"id":"https://openalex.org/keywords/autosomal-dominant-inheritance","display_name":"autosomal dominant inheritance","score":0.777999997138977},{"id":"https://openalex.org/keywords/endothelial-cell-proliferation","display_name":"endothelial cell proliferation","score":0.5879999995231628},{"id":"https://openalex.org/keywords/candidate-genes","display_name":"candidate genes","score":0.36399999260902405}],"concepts":[{"id":"https://openalex.org/C2780191036","wikidata":"https://www.wikidata.org/wiki/Q861028","display_name":"Hemangioma","level":2,"score":0.557266354560852},{"id":"https://openalex.org/C3019900241","wikidata":"https://www.wikidata.org/wiki/Q52771370","display_name":"Infantile hemangioma","level":3,"score":0.5148991346359253},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.47065749764442444},{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.46006667613983154},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.3126152753829956},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.22241073846817017}],"mesh":[{"descriptor_ui":"D002874","descriptor_name":"Chromosome Mapping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D002895","descriptor_name":"Chromosomes, Human, Pair 5","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":"D006239","descriptor_name":"Haplotypes","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D006391","descriptor_name":"Hemangioma","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008126","descriptor_name":"Lod Score","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":"D012984","descriptor_name":"Software","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018740","descriptor_name":"Genetic Heterogeneity","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1002/(sici)1096-8628(19990101)82:1<77::aid-ajmg15>3.0.co;2-a","doi":"https://doi.org/10.1002/(sici)1096-8628(19990101)82:1<77::aid-ajmg15>3.0.co;2-a","is_oa":false,"landing_page_url":"https://doi.org/10.1002/(sici)1096-8628(19990101)82:1<77::aid-ajmg15>3.0.co;2-a","pdf_url":null,"source":{"id":"https://openalex.org/S4210224978","display_name":"American Journal of Medical Genetics","issn_l":"0148-7299","issn":["0148-7299","1096-8628"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","norway-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":"American Journal of Medical Genetics","raw_type":"journal-article"},{"id":"pmid:9916848","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/9916848","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 medical genetics","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":0.9940000176429749}],"study_designs":[{"id":"https://openalex.org/study-designs/observational-study","display_name":"Observational Study"}],"awards":[{"id":"https://openalex.org/G188001754","display_name":"Genetic Studies in Neurological Disorders","funder_award_id":"P01NS026630","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"}],"funders":[{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":14,"referenced_works":["https://openalex.org/W23760921","https://openalex.org/W1492992226","https://openalex.org/W1674854615","https://openalex.org/W1972107478","https://openalex.org/W1995232821","https://openalex.org/W2007029915","https://openalex.org/W2013162905","https://openalex.org/W2016901496","https://openalex.org/W2021311434","https://openalex.org/W2027961277","https://openalex.org/W2047158698","https://openalex.org/W2060543989","https://openalex.org/W2075935706","https://openalex.org/W2158655013"],"related_works":["https://openalex.org/W2117448416","https://openalex.org/W2531425636","https://openalex.org/W2158655013","https://openalex.org/W3047524952","https://openalex.org/W2105885677","https://openalex.org/W2848968341","https://openalex.org/W2060465964","https://openalex.org/W2165987918","https://openalex.org/W2027751324","https://openalex.org/W2894631199"],"abstract_inverted_index":{"Infantile":[0],"hemangiomas":[1,36,57,207],"are":[2,21],"the":[3,81,132,140,162,213],"most":[4,35],"common":[5,215],"tumor":[6],"of":[7,13,17,31,88],"infancy,":[8],"occurring":[9],"with":[10,46,66,176,205],"an":[11,62],"incidence":[12],"up":[14],"to":[15,59,109,126,153,181],"10%":[16],"all":[18],"births.":[19],"They":[20],"benign":[22],"but":[23],"highly":[24],"proliferative":[25],"lesions":[26],"involving":[27],"aberrant":[28],"localized":[29],"growth":[30,179,185,190],"capillary":[32],"endothelium.":[33],"Although":[34],"occur":[37],"sporadically":[38],"and":[39,93,114,130,146,151,159,170,194,201],"as":[40,61],"single":[41],"lesions,":[42],"or":[43,77],"in":[44,75,95,111,212],"conjunction":[45],"pleiotropic":[47],"genetic":[48],"syndromes,":[49],"we":[50],"have":[51],"previously":[52],"identified":[53],"six":[54],"kindreds":[55],"where":[56],"appear":[58],"segregate":[60],"autosomal":[63],"dominant":[64],"trait":[65],"high":[67],"penetrance.":[68],"Four":[69],"such":[70],"families":[71,90,122],"contain":[72],"affected":[73,158],"individuals":[74],"three":[76,112,120],"more":[78,214],"generations.":[79],"In":[80],"current":[82],"study,":[83],"blood":[84,177],"samples":[85],"from":[86,157],"five":[87],"these":[89],"were":[91,123],"collected":[92],"used":[94],"a":[96],"whole":[97],"genome":[98],"linkage":[99,108],"search":[100],"at":[101],"10-cM":[102],"resolution.":[103],"We":[104],"established":[105],"evidence":[106,115],"for":[107,116],"5q":[110],"families,":[113],"locus":[117],"heterogeneity.":[118],"The":[119,199],"5q-linked":[121],"further":[124],"genotyped":[125],"generate":[127],"haplotype":[128],"information":[129,156],"narrow":[131],"candidate":[133,173],"interval.":[134],"Based":[135],"on":[136],"recombination":[137],"breakpoint":[138],"analysis,":[139],"interval":[141,163],"exists":[142],"between":[143,167],"markers":[144,168],"D5S2490":[145],"D5S408,":[147],"spanning":[148],"55":[149],"cM,":[150],"corresponding":[152],"5q31-33.":[154],"Using":[155],"unaffected":[160],"individuals,":[161],"spans":[164],"38":[165],"cM":[166],"D5S1469":[169],"D5S211.":[171],"Three":[172],"genes":[174,200],"involved":[175,210],"vessel":[178],"map":[180],"this":[182],"region:":[183],"fibroblast":[184],"factor":[186,191],"receptor-4":[187],"(FGFR4),":[188],"platelet-derived":[189],"receptor-beta":[192],"(PDG-FRB),":[193],"fms-related":[195],"tyrosine":[196],"kinase-4":[197],"(FLT4).":[198],"gene":[202],"products":[203],"associated":[204],"familial":[206],"may":[208],"be":[209],"somatically":[211],"sporadic":[216],"cases.":[217]},"counts_by_year":[{"year":2025,"cited_by_count":4},{"year":2024,"cited_by_count":5},{"year":2023,"cited_by_count":2},{"year":2022,"cited_by_count":4},{"year":2021,"cited_by_count":4},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":4},{"year":2018,"cited_by_count":6},{"year":2017,"cited_by_count":6},{"year":2016,"cited_by_count":8},{"year":2015,"cited_by_count":6},{"year":2014,"cited_by_count":7},{"year":2013,"cited_by_count":13},{"year":2012,"cited_by_count":9}],"updated_date":"2026-11-06T12:05:46.655746","created_date":"2016-06-24T00:00:00"}