{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,5]],"date-time":"2025-10-05T19:11:38Z","timestamp":1759691498479,"version":"build-2065373602"},"reference-count":20,"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>Autosomal dominant osteogenesis imperfecta is caused by mutations in the COL1A2 and COL1A1 genes of type I collagen. In a family with OI type IV genetically linked to the COL1A2 gene, we attempted prenatal diagnosis in a pregnancy at risk by genotyping the DNA of the fetus for a COL1A2 gene associated RFLP. Our results showed that the fetus inherited the normal COL1A2 allele from her affected parent. Linkage analysis can thus be used in the prenatal diagnosis of dominantly inherited osteogenesis imperfecta.<\/jats:p>","DOI":"10.1136\/jmg.24.7.406","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:09:16Z","timestamp":1226329756000},"page":"406-409","source":"Crossref","is-referenced-by-count":13,"title":["Prenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe."],"prefix":"10.1136","volume":"24","author":[{"given":"P","family":"Tsipouras","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R C","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J D","family":"Goldberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R L","family":"Berkowitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Ramirez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[1987,7,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/306151a0","article-title":"Cloned human phenylalaninc hydroxylasc genc allows prenatal diagnosis and carrier detection of classical phenylketonuria","volume":"306","author":"Woo, S.L.C.; Lidsky, A.S.; Guttlcr, F.; Chandra, T.; Robson, K.J.H.","year":"1983","unstructured":"Woo SLC, Lidsky AS, Guttlcr F, Chandra T, Robson KJH. 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Detection of a high frequency Rsal polymorphism in the human proa2(I) collagen gene which is linked to an autosomal dominant form of osteogenesis imperfecta. EMBO J 1985;4:1745-8. '4 Eighth International Workshop on Human Gene Mapping. Cytogenet Cell Genet 1985;40:1-824. '5 Dickson LA, Pihlajaniemi T, Deak SB, et al. Nuclease S1 mapping of a homozygous mutation in the carboxypeptidecoding region of the proa2(l) collagen gene in a patient with osteogenesis imperfecta. Proc Natl Acad Sci USA 1984; 81:4524-8.","journal-title":"EMBO J; 4 Eighth International Workshop on Human Gene Mapping. Cytogenet Cell Genet 1985; 40: 1-824. 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