{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,1,31]],"date-time":"2024-01-31T14:29:20Z","timestamp":1706711360067},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[1990,3,1]],"date-time":"1990-03-01T00:00:00Z","timestamp":636249600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur J Pediatr"],"published-print":{"date-parts":[[1990,3]]},"DOI":"10.1007\/bf02009659","type":"journal-article","created":{"date-parts":[[2005,8,12]],"date-time":"2005-08-12T07:18:10Z","timestamp":1123831090000},"page":"403-405","source":"Crossref","is-referenced-by-count":3,"title":["Radiological \u201cmetamorphosis\u201d in a patient with severe congenital osteogenesis imperfecta"],"prefix":"10.1007","volume":"149","author":[{"given":"F.","family":"Pendola","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Borrone","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Filocamo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Lituania","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Steinmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Superti-Furga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BF02009659_CR1","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1007\/BF00291667","volume":"78","author":"K Aitchison","year":"1988","unstructured":"Aitchison K, Ogilvie D, Honeyman M, Thompson E, Sykes B (1988) Homozygous osteogenesis imperfecta unlinked to collagen I genes. Hum Genet 78:233\u2013236","journal-title":"Hum Genet"},{"key":"BF02009659_CR2","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1016\/0002-9378(88)90516-9","volume":"159","author":"JTJ Brons","year":"1988","unstructured":"Brons JTJ, Harten H van der, Wladimiroff JW, Geijn HP van, Dijkstra PF, Exalto N, Reuss A, Niermeijer MF, Meijer CJLM, Arts NFT (1988) Prenatal ultrasonographic diagnosis of osteogenesis imperfecta. Am J Obstet Gynecol 159:176\u2013181","journal-title":"Am J Obstet Gynecol"},{"key":"BF02009659_CR3","first-page":"2805","volume-title":"The metabolic basis of inherited disease","author":"PH Byers","year":"1989","unstructured":"Byers PH (1989) Disorders of collagen biosynthesis and structure. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 2805\u20132842","edition":"6th edn"},{"key":"BF02009659_CR4","first-page":"237","volume":"42","author":"PH Byers","year":"1988","unstructured":"Byers PH, Tsipouras P, Bonadio JF, Starman BJ, Schwartz RC (1988) Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am J Hum Genet 42:237\u2013248","journal-title":"Am J Hum Genet"},{"key":"BF02009659_CR5","doi-asserted-by":"crossref","first-page":"720","DOI":"10.1016\/S0022-3476(88)80688-7","volume":"112","author":"AS Knisely","year":"1988","unstructured":"Knisely AS, Magid MS, Felix JC, Singer DB (1988) Parathyroid gland hemorrhage in perinatally lethal osteogenesis imperfecta. J Pediatr 112:720\u2013725","journal-title":"J Pediatr"},{"key":"BF02009659_CR6","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1136\/jmg.16.2.101","volume":"16","author":"DO Sillence","year":"1979","unstructured":"Sillence DO, Senn A, Danks DM (1979) Genetic heterogeneity in osteogenesis imperfecta. J Med Genet 16:101\u2013116","journal-title":"J Med Genet"},{"key":"BF02009659_CR7","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1002\/ajmg.1320170204","volume":"17","author":"DO Sillence","year":"1984","unstructured":"Sillence DO, Barlow KK, Garber AP, Hall JG, Rimoin DL (1984) Osteogenesis imperfecta type II-delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 17:407\u2013423","journal-title":"Am J Med Genet"},{"key":"BF02009659_CR8","doi-asserted-by":"crossref","first-page":"821","DOI":"10.1002\/ajmg.1320230309","volume":"23","author":"DO Sillence","year":"1986","unstructured":"Sillence DO, Barlow KK, Cole WG, Dietrich S, Garber AP, Rimoin DL (1986) Osteogenesis imperfecta type III\u2014delineation of the phenotype with reference to genetic heterogeneity. Am J Med Genet 23:821\u2013832","journal-title":"Am J Med Genet"},{"key":"BF02009659_CR9","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1002\/ajmg.1320170205","volume":"17","author":"J Spranger","year":"1984","unstructured":"Spranger J (1984) Osteogenesis imperfecta: a pasture for splitters and lumpers. Am J Med Genet 17:425\u2013428","journal-title":"Am J Med Genet"},{"key":"BF02009659_CR10","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1007\/BF01221706","volume":"12","author":"J Spranger","year":"1982","unstructured":"Spranger J, Cremin B, Beighton P (1982) Osteogenesis imperfecta congenita \u2014 features and prognosis of a heterogeneous condition. Pediatr Radiol 12:21\u201327","journal-title":"Pediatr Radiol"},{"key":"BF02009659_CR11","doi-asserted-by":"crossref","first-page":"11129","DOI":"10.1016\/S0021-9258(18)90631-9","volume":"259","author":"B Steinmann","year":"1984","unstructured":"Steinmann B, Rao VH, Vogel A, Bruckner P, Gitzelmann R, Byers PH (1984) Cysteine in the triple-helical domain of one allelic product of the \u03b11(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J Biol Chem 259:11129\u201311138","journal-title":"J Biol Chem"},{"key":"BF02009659_CR12","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1111\/j.1749-6632.1988.tb55315.x","volume":"543","author":"B Steinmann","year":"1988","unstructured":"Steinmann B, Superti-Furga A, Royce PM (1988) Imperfect collagenesis in osteogenesis imperfecta. Ann N Y Acad Sci 543:47\u201361","journal-title":"Ann N Y Acad Sci"},{"key":"BF02009659_CR13","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1136\/jmg.26.6.358","volume":"26","author":"A Superti-Furga","year":"1989","unstructured":"Superti-Furga A, Pistone F, Romano C, Steinmann B (1989) Clinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule. J Med Genet 26:358\u2013362","journal-title":"J Med Genet"},{"key":"BF02009659_CR14","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1136\/jmg.24.7.390","volume":"24","author":"EM Thompson","year":"1987","unstructured":"Thompson EM, Young ID, Hall CM, Pembrey ME (1987) Recurrence risk and prognosis in severe sporadic osteogenesis imperfecta. J Med Genet 24:390\u2013405","journal-title":"J Med Genet"},{"key":"BF02009659_CR15","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1111\/j.1399-0004.1989.tb02926.x","volume":"35","author":"EM Williams","year":"1989","unstructured":"Williams EM, Nicholls AC, Daw SC, Mitchell N, Levin LS, Green B, MacKenzie J, Evans DR, Chudleigh PA, Pope FM (1989) Phenotypical features of an unique Irish family with severe autosomal recessive osteogenesis imperfecta. Clin Genet 35:181\u2013190","journal-title":"Clin Genet"}],"container-title":["European Journal of Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02009659.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1007\/BF02009659\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1007\/BF02009659","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,15]],"date-time":"2021-07-15T11:37:05Z","timestamp":1626349025000},"score":1,"resource":{"primary":{"URL":"http:\/\/link.springer.com\/10.1007\/BF02009659"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,3]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1990,3]]}},"alternative-id":["BF02009659"],"URL":"https:\/\/doi.org\/10.1007\/bf02009659","relation":{},"ISSN":["0340-6199","1432-1076"],"issn-type":[{"value":"0340-6199","type":"print"},{"value":"1432-1076","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,3]]}}}