osteogenesis imperfecta

1. Conclusion Pamidronate therapy has a positive effect on patients with osteogenesis imperfecta, while this still remains to be demonstrated in more patients with osteogenesis imperfecta.
   结论帕米膦酸钠对成骨不全症有较好疗效，但需更多病例观察。
2. Osteogenesis imperfecta is an inherited disorder of connective tissue, which affects the skeleton, ligament, skin, sclera, and dentin.
   骨发生不全是一种遗传性的结缔组织病变，常侵犯骨骼、韧带、皮肤、角膜及牙齿。
3. A novel collagen, type ⅰ, alpha ⅰ mutation in a Chinese osteogenesis imperfecta family Significance of PTEN and PCNA's expression in human glioma
   成骨不全一家系1型胶原α1链基因新突变PTEN基因和增殖细胞核抗原在原发胶质瘤中的表达及意义
4. Objective To summarize the experience of pamidronate for osteogenesis imperfecta.
   目的总结帕米膦酸钠在成骨不全症中的应用经验。
5. Methods To review the effect of intravenous pamidronate therapy on two patients with osteogenesis imperfecta in2007.
   方法对2007年我院收治的2例成骨不全症的治疗进行回顾分析。
6. Two Hui-probands of Osteogenesis Imperfecta: Their Pedigree Analyses
   报告两个不同遗传方式成骨不全症回族家系
7. Osteogenesis imperfecta: Anthropometric, skeletal and mineral metabolic effects of long-term intravenous pamidronate therapy
   成骨不全：长期氨羟二磷酸二钠静脉注射疗法对人体测量学、骨骼和无机物代谢的影响
8. Radiological Diagnosis of Osteogenesis Imperfecta ( Analysis of 21 Cases)
   成骨不全的X线诊断（附21例分析）
9. Methods: The clinical radiographic and CT features of 6 patients with tumoral callus of 68 osteogenesis imperfecta were analysed retrospectively.
   方法：对一组68例成骨不全中6例并有肿瘤样骨痂的临床、X线和CT表现进行回顾性分析。
10. A case of fetal congenital osteogenesis imperfecta
    胎儿先天性成骨发育不全1例
11. X-ray examination and family-line investigation in 32 cases of osteogenesis imperfecta
    32例成骨不全症X线检查及家系调察分析
12. In the 4 pathological fractures ( 2 cases were caused by metastatic carcinoma), 3 died at 16,18 and 24 months after operation respectively. The remaining one with osteogenesis imperfecta had a good function similar to the health side.
    4例病理骨折，其中3例术后分别存活16个月、18个月、24个月，另1例为成骨不全，术后患肢功能较健侧无差别。
13. Genetic Studies of Osteogenesis Imperfecta Type ⅰ and Two Candidate Genes of Osteoporosis
    Ⅰ型成骨不全及骨质疏松症两个候选基因的遗传学研究
14. Objective To study the gene mutation of collagen, type ⅰ, alpha 1 ( COL1A1) associated with the clinical characterization of a Chinese family with type I osteogenesis imperfecta ( OI).
    目的探讨一个成骨不全家系的COL1A1基因的突变位点及其与临床特征的关系。
15. Cardiopulmonary fitness and muscle strength in patients with osteogenesis imperfecta type I
    I型骨生成缺陷患者的心肺适应性和肌力
16. Osteogenesis imperfecta ( OMIM 166200) is an autosomal dominant disorder characterized by bone fragility and abnormalities of connective tissue.
    成骨不全病（OMIM166200）是一种常染色体显性遗传病，其临床表现以骨折及结缔组织异常为特征。
17. Objective To discuss the X-ray appearances of osteogenesis imperfecta.
    目的探讨成骨不全症的X线诊断。
18. Intramedullary nails for correction of deformity in the lower limbs in children with osteogenesis imperfecta
    髓内钉在矫治儿童成骨不全严重肢体畸形中的应用
19. Objective: To introduce the clinical and radiological findings of the tumoral callus in osteogenesis imperfecta and to describe its probable formative mechanism.
    目的：介绍成骨不全并肿瘤样骨痂形成的临床和放射学表现，并试图探讨其形成机制。
20. The diagnosis of osteogenesis imperfecta
    成骨不全的X线诊断

noun

1. autosomal dominant disorder of connective tissue characterized by brittle bones that fracture easily