{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T16:06:26Z","timestamp":1792166786966,"version":"4.4.0"},"reference-count":13,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1987,7]]},"abstract":"<jats:p>Thirty cases of radiologically proven type IIA osteogenesis imperfecta (OI) have been ascertained. All were isolated with 19 unaffected foreborn and 19 unaffected afterborn sibs. Two sets of parents, both Asian, were consanguineous. There was a significant parental age effect, most marked for paternal age. It is concluded that most cases of type IIA OI result from new dominant mutations.<\/jats:p>","DOI":"10.1136\/jmg.24.7.386","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"386-389","source":"Crossref","is-referenced-by-count":41,"title":["Osteogenesis imperfecta type IIA: evidence for dominant inheritance."],"prefix":"10.1136","volume":"24","author":[{"given":"I D","family":"Young","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E M","family":"Thompson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C M","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M E","family":"Pembrey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1987,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","article-title":"Genetic heterogeneity in osteogenesis imperfecta","volume":"16","author":"Sillence, D.O.; Senn, A.; Danks, D.M.","year":"1979","unstructured":"Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 1979;16:101-16.","journal-title":"J Med Genet"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/ajmg.1320170204","article-title":"Osteogenesis imperfecta type II. Delineation of the phenotype with reference to genetic heterogeneity","volume":"17","author":"Sillence, D.O.; Barlow, K.K.; Garber, A.P.; Hall, J.G.; Rimoin, D.L.","year":"1984","unstructured":"Sillence DO, Barlow KK, Garber AP, Hall JG, Rimoin DL. Osteogenesis imperfecta type II. Delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 1984;17:407-23.","journal-title":"Am J Med Genet"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/BF01221706","article-title":"Osteogenesis imperfecta congenita. Features and prognosis of a heterogeneous condition","volume":"12","author":"Spranger, J.; Cremin, B.; Beighton, P.","year":"1982","unstructured":"Spranger J, Cremin B, Beighton P. Osteogenesis imperfecta congenita. Features and prognosis of a heterogeneous condition. Pediatr Radiol 1982;12:21-7.","journal-title":"Pediatr Radiol"},{"key":"ref_4","first-page":"432","article-title":"Osteogenesis imperfecta in Jerusalem","volume":"i:","author":"Cohen, T.; Goldstein, N.; Falevski de Leon, G.","year":"1984","unstructured":"Cohen T, Goldstein N, Falevski de Leon G. Osteogenesis imperfecta in Jerusalem. Am J Hum Genet 1984;36:47S. 5 Young ID, Harper PS. Recurrence risk in osteogenesis imperfecta congenita. Lancet 1980;i:432.","journal-title":"Am J Hum Genet; 36: 47S. 5 Young ID, Harper PS. Recurrence risk in osteogenesis imperfecta congenita"},{"key":"ref_5","first-page":"147","article-title":"Methodology in medical genetics","author":"Emery, A.E.H.","year":"1986","unstructured":"Emery AEH. Methodology in medical genetics. 2nd ed. Edinburgh: Churchill-Livingstone, 1986: 147.","edition":"2nd ed"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"572","DOI":"10.1016\/0002-9378(75)90101-5","article-title":"The prenatal diagnosis of osteogenesis imperfecta congenita","volume":"121","author":"Heller, R.H.; Winn, K.J.; Heller, R.M.","year":"1975","unstructured":"Heller RH, Winn KJ, Heller RM. The prenatal diagnosis of osteogenesis imperfecta congenita. Am J Obstet Gynecol 1975; 121:572-3.","journal-title":"Am J Obstet Gynecol"},{"key":"ref_7","first-page":"586","article-title":"Abnormal collagen metabolism in cultured cells","volume-title":"osteogenesis imperfecta. Proc Natl Acad Sci USA","volume":"72","author":"Pentinnen, R.P.; Lichtenstein, JR, Martin; GR, McKusick; V.A.","year":"1975","unstructured":"Pentinnen RP, Lichtenstein JR, Martin GR, McKusick VA. Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Proc Natl Acad Sci USA 1975;72:586-90."},{"issue":"5142-6","key":"ref_8","first-page":"0","article-title":"Reduced secretion of structurally abnormal type I procollagen in a form","volume":"78","author":"Barsh, G.S.; Byers, P.H.","year":"1981","unstructured":"Barsh GS, Byers PH. Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta. Proc Natl Acad Sci USA 1981;78:5142-6. '0 Chu ML, Williams CJ, Pepe G, Hirsch JL, Prockop DJ, Ramirez F. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature 1983;304:78-80.","journal-title":"of osteogenesis imperfecta. Proc Natl Acad Sci USA; Nature; Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta"},{"key":"ref_9","first-page":"499","article-title":"Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen","volume":"36","author":"Prockop, D.J.","year":"1984","unstructured":"Prockop DJ. Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen. Am J Hum Genet 1984;36:499-505.","journal-title":"Am J Hum Genet"},{"key":"ref_10","first-page":"112","article-title":"The molecular genetics of collagen","volume":"3","author":"Sykes, B.","year":"1985","unstructured":"Sykes B. The molecular genetics of collagen. Bio Essays 1985;3: 112-7.","journal-title":"Bio Essays"},{"issue":"79","key":"ref_11","first-page":"\"363","article-title":"Osteogenesis imperfecta type II is usually due to new dominant mutations","volume":"37","author":"Tsipouras, P.; Bonadio, J.F.; Schwartz, R.C.; Horowitz, A.; Byers, P.H.","year":"1985","unstructured":"Tsipouras P, Bonadio JF, Schwartz RC, Horowitz A, Byers PH. Osteogenesis imperfecta type II is usually due to new dominant mutations. Am J Hum Genet 1985;37:79A. 14 Bonadio J, Byers PH. Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II. Nature 1985;316:363-6. '5 Bateman JF, Mascara T, Chan D, Cole WG. Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta. Biochem J 1984;217:103-15.","journal-title":"Am J Hum Genet; Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II"},{"key":"ref_12","first-page":"37","article-title":"Methodology in medical genetics","author":"Emery, A.E.H.","year":"1986","unstructured":"Emery AEH. Methodology in medical genetics. 2nd ed. Edinburgh: Churchill-Livingstone, 1986:37-54.","edition":"2nd ed"},{"issue":"3","key":"ref_13","first-page":"\"125","article-title":"Midtrimester diagnosis of osteogenesis imperfecta, type II","volume":"18","author":"Dinno, N.D.; Yacoub, U.A.; Kadlec, J.F.; Garver, K.L.","year":"1982","unstructured":"Dinno ND, Yacoub UA, Kadlec JF, Garver KL. Midtrimester diagnosis of osteogenesis imperfecta, type II. Birth Defects 1982;18(3A): 125-32. lx Shapiro JE, Phillips JA, Byers PH, et al. Prenatal diagnosis of lethal perinatal osteogenesis imperfecta (01 type II). J Pediatr 1982;100: 127-33.","journal-title":"Birth Defects; Prenatal diagnosis of lethal perinatal osteogenesis imperfecta (01 type II"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.24.7.386","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T17:47:17Z","timestamp":1759686437000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.24.7.386"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1987,7]]},"references-count":13,"journal-issue":{"issue":"7","published-online":{"date-parts":[[1987,7,1]]},"published-print":{"date-parts":[[1987,7]]}},"alternative-id":["10.1136\/jmg.24.7.386"],"URL":"https:\/\/doi.org\/10.1136\/jmg.24.7.386","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[1987,7]]}}}