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Quoted phrase not found in phrase index: "Osteogenesis imperfecta, recessive perinatal lethal"
Page 1
Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.
Thompson EM, Young ID, Hall CM, Pembrey ME. Thompson EM, et al. J Med Genet. 1987 Jul;24(7):390-405. doi: 10.1136/jmg.24.7.390. J Med Genet. 1987. PMID: 3612715 Free PMC article.
A study was carried out in the United Kingdom of patients with severe osteogenesis imperfecta (OI), born with fractures to normal parents, in order to determine recurrence risks. ...The three patients with type IIC OI had three healthy sibs and the 10 unclassifiable …
A study was carried out in the United Kingdom of patients with severe osteogenesis imperfecta (OI), born with fractures to nor …
Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.
Bodian DL, Chan TF, Poon A, Schwarze U, Yang K, Byers PH, Kwok PY, Klein TE. Bodian DL, et al. Hum Mol Genet. 2009 Feb 1;18(3):463-71. doi: 10.1093/hmg/ddn374. Epub 2008 Nov 7. Hum Mol Genet. 2009. PMID: 18996919 Free PMC article.
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a clinically and genetically heterogeneous disorder primarily characterized by susceptibility to fracture. ...In three samples without collagen mutations, we found inactivating mutations in CRTAP a …
Osteogenesis imperfecta (OI), also known as brittle bone disease, is a clinically and genetically heterogeneous disorder prima …
Skeletal complications in osteogenesis imperfecta. A review of 153 South African patients.
Beighton P, Spranger J, Versveld G. Beighton P, et al. S Afr Med J. 1983 Oct 1;64(15):565-8. S Afr Med J. 1983. PMID: 6623243
Osteogenesis imperfecta (OI) is one of the most important inherited skeletal dysplasias. ...Two of the patients were chair-bound and 9 used crutches or wore calipers. Sixteen patients (sporadic cases) had type II OI (lethal in the perinatal period, aut …
Osteogenesis imperfecta (OI) is one of the most important inherited skeletal dysplasias. ...Two of the patients were chair-bou …
Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene.
Moul A, Alladin A, Navarrete C, Abdenour G, Rodriguez MM. Moul A, et al. Fetal Pediatr Pathol. 2013 Oct;32(5):319-25. doi: 10.3109/15513815.2012.754528. Epub 2013 Jan 10. Fetal Pediatr Pathol. 2013. PMID: 23301918 Free PMC article.
Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. ...Cultured skin fibroblasts demonstrated compound heterozygosity for mutations in the LEPRE1 gene encoding prolyl 3-hydroxylase 1 confirming the diagn …
Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. ...Cultured …
Perinatal death in two sibs with infantile cortical hyperostosis (Caffey disease).
de Jong G, Muller LM. de Jong G, et al. Am J Med Genet. 1995 Nov 6;59(2):134-8. doi: 10.1002/ajmg.1320590203. Am J Med Genet. 1995. PMID: 8588573
We describe 2 sibs with lethal, prenatal-onset cortical hyperostosis. Antenatal sonographic diagnosis of the first sib was that of short limb dwarfism and thoracic dysplasia (nonspecific), possibly osteogenesis imperfecta. ...Although sporadic cases and autos …
We describe 2 sibs with lethal, prenatal-onset cortical hyperostosis. Antenatal sonographic diagnosis of the first sib was that of sh …