{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:52:39Z","timestamp":1787241159989,"version":"build-2736575974"},"reference-count":27,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2001,5,1]]},"DOI":"10.1136\/jmg.38.5.338","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:34:46Z","timestamp":1027751686000},"page":"338-343","source":"Crossref","is-referenced-by-count":15,"title":["A syndrome of overgrowth and acromegaloidism with normal growth hormone secretion is associated with chromosome 11 pericentric inversion"],"prefix":"10.1136","volume":"38","author":[{"given":"Constantine A","family":"Stratakis","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria L","family":"Turner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antony","family":"Lafferty","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge R","family":"Toro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Suvimol","family":"Hill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanne M","family":"Meck","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jan","family":"Blancato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2001,5,1]]},"reference":[{"key":"2025101714204929000_38.5.338.1","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.12.4379"},{"key":"2025101714204929000_38.5.338.2","unstructured":"Online Mendelian Inheritance in Man, OMIM (TM). Center for Medical Genetics, Johns Hopkins University, and National Center for Biotechnology Information, National Library of Medicine. 1999, World Wide Web URL: http:\/\/www.ncbi.nlm.nih.gov\/omim."},{"key":"2025101714204929000_38.5.338.3","doi-asserted-by":"publisher","DOI":"10.1001\/archderm.1966.01600290068012"},{"key":"2025101714204929000_38.5.338.4","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1056\/NEJM196505062721801","article-title":"Pachydermoperiostosis (idiopathic clubbing and periostosis), genetic and physiologic considerations.","volume":"272","author":"Rimoin","year":"1965","journal-title":"N Engl J Med"},{"key":"2025101714204929000_38.5.338.5","doi-asserted-by":"crossref","first-page":"532","DOI":"10.2214\/ajr.112.3.532","article-title":"Familial pachydermoperiostosis presenting as an acromegaly-like syndrome.","volume":"112","author":"Harbison","year":"1971","journal-title":"Am J Roentgenol Radium Ther Nucl Med"},{"key":"2025101714204929000_38.5.338.6","doi-asserted-by":"publisher","DOI":"10.1210\/jc.76.6.1533"},{"key":"2025101714204929000_38.5.338.7","doi-asserted-by":"publisher","DOI":"10.1001\/archinte.1980.00330190099028"},{"key":"2025101714204929000_38.5.338.8","doi-asserted-by":"crossref","first-page":"722","DOI":"10.1001\/archopht.1962.00960030726004","article-title":"An acromegaloid, cutis verticis gyrata, corneal leukoma syndrome.","volume":"68","author":"Rosenthal","year":"1962","journal-title":"Arch Ophthalmol"},{"key":"2025101714204929000_38.5.338.9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320150204"},{"key":"2025101714204929000_38.5.338.10","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.22.2.119"},{"key":"2025101714204929000_38.5.338.11","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.29.6.419"},{"key":"2025101714204929000_38.5.338.12","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.33.11.972"},{"key":"2025101714204929000_38.5.338.13","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-199804000-00010"},{"key":"2025101714204929000_38.5.338.14","doi-asserted-by":"publisher","DOI":"10.1359\/jbmr.1999.14.7.1163"},{"key":"2025101714204929000_38.5.338.15","doi-asserted-by":"publisher","DOI":"10.1210\/jc.83.3.1033"},{"key":"2025101714204929000_38.5.338.16","doi-asserted-by":"publisher","DOI":"10.1210\/jc.85.9.3396"},{"key":"2025101714204929000_38.5.338.17","first-page":"109","article-title":"Comparison of metaphase and interphase FISH monitoring of minimal residual disease with MLL gene probe: case study of AML with t(9;11).","volume":"42","author":"Gallo","year":"1999","journal-title":"Ann Genet"},{"key":"2025101714204929000_38.5.338.18","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1007\/BF03343577","article-title":"A rare case of acromegaly associated with pachydermoperiostosis.","volume":"22","author":"Shimizu","year":"1999","journal-title":"J Endocrinol Invest"},{"key":"2025101714204929000_38.5.338.19","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1097\/00005792-196407000-00002","article-title":"Clubbing: review with emphasis on hereditary arthropathy.","volume":"43","author":"Fischer","year":"1964","journal-title":"Medicine"},{"key":"2025101714204929000_38.5.338.20","first-page":"1386","article-title":"Hypertrophic osteoarthropathy: consensus on its definition, classification, assessment and diagnostic criteria.","volume":"20","author":"Martinez-Levin","year":"1993","journal-title":"J Rheumatol"},{"key":"2025101714204929000_38.5.338.21","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-57-2-272"},{"key":"2025101714204929000_38.5.338.22","doi-asserted-by":"crossref","first-page":"1011","DOI":"10.1172\/JCI119884","article-title":"Impaired activation of phosphoinositide 3-kinase by insulin in fibroblasts from patients with severe insulin resistance and pseudoacromegaly. A disorder characterized by selective postreceptor insulin resistance.","volume":"101","author":"Dib","year":"1998","journal-title":"J Clin Invest"},{"key":"2025101714204929000_38.5.338.23","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1055\/s-0029-1212090","article-title":"Insulin-mediated pseudoacromegaly in a patient with severe insulin resistance: association of defective insulin-stimulated glucose transport with impaired phosphatidylinositol 3-kinase activity in fibroblasts.","volume":"107","author":"Kausch","year":"1999","journal-title":"Exp Clin Endocrinol Diabetes"},{"key":"2025101714204929000_38.5.338.24","doi-asserted-by":"publisher","DOI":"10.1385\/MB:12:2:159"},{"key":"2025101714204929000_38.5.338.25","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.4826"},{"key":"2025101714204929000_38.5.338.26","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/7.5.895"},{"key":"2025101714204929000_38.5.338.27","doi-asserted-by":"publisher","DOI":"10.1126\/science.282.5389.744"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.38.5.338","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T21:20:59Z","timestamp":1760736059000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.38.5.338"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,5,1]]},"references-count":27,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2001,5,1]]},"published-print":{"date-parts":[[2001,5,1]]}},"alternative-id":["10.1136\/jmg.38.5.338"],"URL":"https:\/\/doi.org\/10.1136\/jmg.38.5.338","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,5,1]]}}}