{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T12:45:46Z","timestamp":1765975546204},"reference-count":35,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2004,8,1]],"date-time":"2004-08-01T00:00:00Z","timestamp":1091318400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,7,19]],"date-time":"2013-07-19T00:00:00Z","timestamp":1374192000000},"content-version":"vor","delay-in-days":3274,"URL":"https:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["The American Journal of Human Genetics"],"published-print":{"date-parts":[[2004,8]]},"DOI":"10.1086\/422702","type":"journal-article","created":{"date-parts":[[2004,6,29]],"date-time":"2004-06-29T21:10:45Z","timestamp":1088543445000},"page":"310-317","source":"Crossref","is-referenced-by-count":33,"title":["Autosomal Dominant Avascular Necrosis of Femoral Head in Two Taiwanese Pedigrees and Linkage to Chromosome 12q13"],"prefix":"10.1016","volume":"75","author":[{"given":"Wei-Ming","family":"Chen","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Fen","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ming-Wei","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I-Chun","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei-Yu","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guan-Lu","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuh-Shan","family":"Jou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yang-Te","family":"Lin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cathy S.J.","family":"Fann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jer-Yuarn","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kwang-Jen","family":"Hsiao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shih-Feng","family":"Tsai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1086\/422702_bib5","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1385\/CRIAI:25:1:13","article-title":"Osteonecrosis in patients with SLE","volume":"25","author":"Abu-Shakra","year":"2003","journal-title":"Clin Rev Allergy Immunol"},{"key":"10.1086\/422702_bib6","doi-asserted-by":"crossref","first-page":"6624","DOI":"10.1073\/pnas.88.15.6624","article-title":"Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy)","volume":"88","author":"Ahmad","year":"1991","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/422702_bib7","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1053\/sarh.2002.33724b","article-title":"Pathogenesis and natural history of osteonecrosis","volume":"32","author":"Assouline-Dayan","year":"2002","journal-title":"Semin Arthritis Rheum"},{"key":"10.1086\/422702_bib8","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1097\/00003086-199204000-00004","article-title":"Role of impairment of blood supply of the femoral head in the pathogenesis of idiopathic osteonecrosis","volume":"277","author":"Atsumi","year":"1992","journal-title":"Clin Orthop"},{"key":"10.1086\/422702_bib9","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1097\/00003086-200206000-00012","article-title":"Avascular necrosis of the femoral head after femoral neck fracture","volume":"399","author":"Bachiller","year":"2002","journal-title":"Clin Orthop"},{"key":"10.1086\/422702_bib10","doi-asserted-by":"crossref","first-page":"544","DOI":"10.1302\/0301-620X.76B4.8027136","article-title":"Hip involvement in childhood brucellosis","volume":"76","author":"Benjamin","year":"1994","journal-title":"J Bone Joint Surg Br"},{"key":"10.1086\/422702_bib11","doi-asserted-by":"crossref","first-page":"823","DOI":"10.1042\/bj3070823","article-title":"Substitution of aspartic acid for glycine at position 310 in type II collagen produces achondrogenesis II, and substitution of serine at position 805 produces hypochondrogenesis: analysis of genotype-phenotype relationships","volume":"307","author":"Bonaventure","year":"1995","journal-title":"Biochem J"},{"key":"10.1086\/422702_bib12","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1302\/0301-620X.67B1.3155745","article-title":"Idiopathic bone necrosis of the femoral head: early diagnosis and treatment","volume":"67","author":"Ficat","year":"1985","journal-title":"J Bone Joint Surg Br"},{"key":"10.1086\/422702_bib13","first-page":"68","article-title":"The role of fat embolism in the etiology of corticosteroid-induced avascular necrosis: clinical and experimental results","volume":"130","author":"Fisher","year":"1978","journal-title":"Clin Orthop"},{"key":"10.1086\/422702_bib14","doi-asserted-by":"crossref","first-page":"3","DOI":"10.2106\/00004623-199601000-00002","article-title":"Association of antithrombotic factor deficiencies and hypofibrinolysis with Legg-Perthes disease","volume":"78","author":"Glueck","year":"1996","journal-title":"J Bone Joint Surg Am"},{"key":"10.1086\/422702_bib15","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1097\/00003086-200105000-00004","article-title":"Hypofibrinolysis, thrombophilia, osteonecrosis","volume":"386","author":"Glueck","year":"2001","journal-title":"Clin Orthop"},{"key":"10.1086\/422702_bib16","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1002\/ajh.2830450212","article-title":"Hypofibrinolysis: a common, major cause of osteonecrosis","volume":"45","author":"Glueck","year":"1994","journal-title":"Am J Hematol"},{"key":"10.1086\/422702_bib17","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1097\/00003086-199701000-00007","article-title":"Thrombophilia and hypofibrinolysis: pathophysiologies of osteonecrosis","volume":"334","author":"Glueck","year":"1997","journal-title":"Clin Orthop"},{"key":"10.1086\/422702_bib18","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1203\/00006450-199404000-00001","article-title":"Protein C and S deficiency, thrombophilia, and hypofibrinolysis: pathophysiologic causes of Legg-Perthes disease","volume":"35","author":"Glueck","year":"1994","journal-title":"Pediatr Res"},{"key":"10.1086\/422702_bib19","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1055\/s-0038-1651633","article-title":"Familial high plasminogen activator inhibitor with hypofibrinolysis, a new pathophysiologic cause of osteonecrosis?","volume":"69","author":"Glueck","year":"1993","journal-title":"Thromb Haemost"},{"key":"10.1086\/422702_bib20","first-page":"195","article-title":"Familial idiopathic osteonecrosis mediated by familial hypofibrinolysis with high levels of plasminogen activator inhibitor","volume":"71","author":"Glueck","year":"1994","journal-title":"Thromb Haemost"},{"key":"10.1086\/422702_bib21","doi-asserted-by":"crossref","first-page":"557","DOI":"10.1016\/S1079-2104(96)80047-3","article-title":"Thrombophilia, hypofibrinolysis, and alveolar osteonecrosis of the jaws","volume":"81","author":"Glueck","year":"1996","journal-title":"Oral Surg Oral Med Oral Pathol Oral Radiol Endod"},{"key":"10.1086\/422702_bib22","doi-asserted-by":"crossref","first-page":"1702","DOI":"10.1126\/science.2849209","article-title":"Point mutations in the human vitamin D receptor gene associated with hypocalcemic rickets","volume":"242","author":"Hughes","year":"1988","journal-title":"Science"},{"key":"10.1086\/422702_bib23","doi-asserted-by":"crossref","first-page":"2130","DOI":"10.1172\/JCI117568","article-title":"Bone mineral density in relation to polymorphism at the vitamin D receptor gene locus","volume":"94","author":"Hustmyer","year":"1994","journal-title":"J Clin Invest"},{"key":"10.1086\/422702_bib24","series-title":"Osteonecrosis: etiology, diagnosis and treatment","first-page":"89","article-title":"Risk factors potentially activating intravascular coagulation and causing nontraumatic osteonecrosis","author":"Jones","year":"1997"},{"key":"10.1086\/422702_bib25","first-page":"783","article-title":"Procoagulants and osteonecrosis","volume":"30","author":"Jones","year":"2003","journal-title":"J Rheumatol"},{"key":"10.1086\/422702_bib26","doi-asserted-by":"crossref","first-page":"8548","DOI":"10.1073\/pnas.84.23.8548","article-title":"Plasminogen activator inhibitor type 1 gene is located at region q21.3-q22 of chromosome 7 and genetically linked with cystic fibrosis","volume":"84","author":"Klinger","year":"1987","journal-title":"Proc Natl Acad Sci USA"},{"key":"10.1086\/422702_bib27","first-page":"482","article-title":"Multilocus linkage analysis in humans: detection of linkage and estimation of recombination","volume":"37","author":"Lathrop","year":"1985","journal-title":"Am J Hum Genet"},{"key":"10.1086\/422702_bib28","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1056\/NEJM199205283262206","article-title":"Nontraumatic necrosis of bone (osteonecrosis)","volume":"326","author":"Mankin","year":"1992","journal-title":"N Engl J Med"},{"key":"10.1086\/422702_bib29","doi-asserted-by":"crossref","first-page":"847","DOI":"10.1302\/0301-620X.77B6.7593093","article-title":"Total hip replacement in irradiated hips: a retrospective study of 71 cases","volume":"77","author":"Massin","year":"1995","journal-title":"J Bone Joint Surg Br"},{"key":"10.1086\/422702_bib30","doi-asserted-by":"crossref","first-page":"1476","DOI":"10.1056\/NEJM199111213252104","article-title":"Sickle cell disease as a cause of osteonecrosis of the femoral head","volume":"325","author":"Milner","year":"1991","journal-title":"N Engl J Med"},{"key":"10.1086\/422702_bib31","doi-asserted-by":"crossref","first-page":"459","DOI":"10.2106\/00004623-199503000-00018","article-title":"Non-traumatic avascular necrosis of the femoral head","volume":"77","author":"Mont","year":"1995","journal-title":"J Bone Joint Surg Am"},{"key":"10.1086\/422702_bib32","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1038\/367284a0","article-title":"Prediction of bone density from vitamin D receptor alleles","volume":"367","author":"Morrison","year":"1994","journal-title":"Nature"},{"key":"10.1086\/422702_bib33","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1136\/ard.53.10.702","article-title":"Idiopathic osteonecrosis of the hip in twins","volume":"53","author":"Nobillot","year":"1994","journal-title":"Ann Rheum Dis"},{"key":"10.1086\/422702_bib34","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1007\/BF00293902","article-title":"Sublocalization of the human protein C gene on chromosome 2q13-q14","volume":"81","author":"Patracchini","year":"1989","journal-title":"Hum Genet"},{"key":"10.1086\/422702_bib35","doi-asserted-by":"crossref","first-page":"512","DOI":"10.1006\/geno.1994.1424","article-title":"Mapping of the 12q12-q22 region with respect to tumor translocation breakpoints","volume":"22","author":"Pedeutour","year":"1994","journal-title":"Genomics"},{"key":"10.1086\/422702_bib36","doi-asserted-by":"crossref","first-page":"1079","DOI":"10.2106\/00004623-199707000-00017","article-title":"Familial heterozygous protein-S deficiency in a patient who had multifocal osteonecrosis: a case report","volume":"79","author":"Pierre-Jacques","year":"1997","journal-title":"J Bone Joint Surg Am"},{"key":"10.1086\/422702_bib37","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1016\/0002-9343(88)90319-1","article-title":"Systemic necrotizing vasculitis causing bone necrosis","volume":"84","author":"Wang","year":"1988","journal-title":"Am J Med"},{"key":"10.1086\/422702_bib38","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1097\/01.blo.0000063602.67412.83","article-title":"Alcohol-induced adipogenesis in bone and marrow: a possible mechanism for osteonecrosis","volume":"410","author":"Wang","year":"2003","journal-title":"Clin Orthop"},{"key":"10.1086\/422702_bib39","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1182\/blood.V71.1.238.238","article-title":"The gene for protein S maps near the centromere of human chromosome 3","volume":"71","author":"Watkins","year":"1988","journal-title":"Blood"}],"container-title":["The American Journal of Human Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707624136?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0002929707624136?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T22:42:53Z","timestamp":1682721773000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0002929707624136"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,8]]},"references-count":35,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2004,8]]}},"alternative-id":["S0002929707624136"],"URL":"https:\/\/doi.org\/10.1086\/422702","relation":{},"ISSN":["0002-9297"],"issn-type":[{"value":"0002-9297","type":"print"}],"subject":[],"published":{"date-parts":[[2004,8]]}}}