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    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
    Osteogenesis Imperfecta (Analysis of 25 Cases)
    成骨不全(附25例分析)
    Radiological Diagnosis of Osteogenesis Imperfecta (Analysis of 21 Cases)
    成骨不全的X线诊断(附21例分析)
    Mutation Detection of COL1A1 Gene in a Pedigree with Osteogenesis Imperfecta
    一成骨不全家系的COL1A1基因突变检测
    X-ray Diagnosis of Osteogenesis Imperfecta:A Report of 10 Cases and Literature Review
    成骨不全症的X线诊断(附10例报告及文献复习)
    A new mutation in COL1A1 gene in a family with osteogenesis imperfecta
    成骨不全家系一个新的Ⅰ型胶原α1链蛋白基因突变
    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
    Materials and Methods: The clinical manifestations and X-ray features of 21 cases (fetus 1 case, new-born baby 6 cases, infant 4 cases, children 6 cases, adult 4 cases) of osteogenesis imperfecta were reported and analysed.
    资料与方法:报告21例(胎儿1例,新生儿6例,婴儿4例,儿童6例,成人4例)成骨不全的临床及X线平片观察。
    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。
    Over 90% of patients with osteogenesis imperfecta have mutations in the COL1A1 and COL1A2 genes which encode the chains of typeⅠprocollagen.
    90%以上病例的发生与形成Ⅰ型胶原的两个基因(COL1A1和COL1A2)突变有关。
    Methods The clinical and radiological manifestations of osteogenesis imperfecta in 10 child-patients were studied retrospectively.
    方法回顾性分析10例成骨不全症患儿的临床和X线表现。
    OSTEOGENESIS IMPERFECTA-An Investication of 3 Families
    成骨不全症(3个家庭调查报告)
    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
    On the Etiology of Osteogenesis Imperfecta (with biochemical assaying data of eleven cases)
    成骨不全症病因探讨(附11例生化检测结果)
    Familial Osteogenesis Imperfecta
    家族性成骨不全
    The Primary Study on Amnionic Collagen of Two Infants with Osteogenesis Imperfecta Families
    两例成骨不全家族新生儿羊膜胶原蛋白初步分析
    Tumoral Callus in Osteogenesis Imperfecta
    成骨不全:肿瘤样骨痂
 

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