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成骨不全
    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。
    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 with metaphyseal dysplasia: report of one case
    成骨不全合并干骺端发育异常1例
    Clinical effect of ossotide infection on osteogenesis imperfecta
    骨肽治疗成骨不全症临床观察
    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
    Fracture and non-fracture pain in children with osteogenesis imperfecta
    成骨不全症患儿的骨折性和非骨折性疼痛
    Gene mutation analysis of a Chinese family with osteogenesis imperfecta
    成骨不全一家系的COL1A1基因突变分析
    The diagnosis of osteogenesis imperfecta
    成骨不全的X线诊断
    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
    One case:osteogenesis imperfecta
    成骨不全1例报告
    Osteogenesis imperfecta (01) is a typical monogenic disorder related to bone tissue. Seven different types have been described, in which OI type I (OI I) is the most common form of OI.
    成骨不全(osteogenesis imperfecta,OI)是一种典型的骨骼系统相关的单基因疾病,有七种类型,其中Ⅰ型(OI Ⅰ)是最主要的一种类型。
    X-ray examination and family-line investigation were performed in 32 cases of osteogenesis imperfecta, suggesting that the modes of inheritance of the disease include autosomal dominant inheritance, autosomal recessive inheritance and sporadic cases caused by gene mutation.
    对32例成骨不全患者进行了家系随访调察和X线检查,提出本病的遗传方式为常染色体显性遗传、常染色体隐性遗传,以及基因突变引起的散发病例。 发现本组病例长骨的X线改变除粗短型、细长型及囊型外。
 

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