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(Lobsteins disease)
5,588 results
  • Sclerostin Antibody-Induced Changes in Bone Mass are Site Specific in Developing Crania. [Journal Article]
    J Bone Miner Res 2019Scheiber AL, Barton DK, … Kozloff KM
  • Sclerostin antibody (Scl-Ab) is an anabolic bone agent that has been shown to increase bone mass in clinical trials of adult diseases of low bone mass, such as osteoporosis and osteogenesis imperfecta (OI). Its use to decrease bone fragility in pediatric OI has shown efficacy in several growing mouse models, suggesting translational potential to pediatric disorders of low bone mass. However, the …
  • Osteogenesis imperfecta in Brazilian patients. [Journal Article]
    Genet Mol Biol 2019Trancozo M, Moraes MVD, … Paula F
  • Osteogenesis Imperfecta (OI) is a heterogeneous genetic disorder characterized by bone fragility and fracture. Mutations in 20 distinct genes can cause OI, and therefore, the genetic diagnosis of OI is frequently difficult to obtain because of the great number of genes that can be related with this disease. Studies that report the most frequently mutated genes in OI patients can help to improve m…
  • Comprehensive analysis of syndromic hearing loss patients in Japan. [Journal Article]
    Sci Rep 2019; 9(1):11976Ideura M, Nishio SY, … Usami SI
  • More than 400 syndromes associated with hearing loss and other symptoms have been described, corresponding to 30% of cases of hereditary hearing loss. In this study we aimed to clarify the mutation spectrum of syndromic hearing loss patients in Japan by using next-generation sequencing analysis with a multiple syndromic targeted resequencing panel (36 target genes). We analyzed single nucleotide …
  • Gait Deviations in Children With Osteogenesis Imperfecta Type I. [Journal Article]
    J Pediatr Orthop 2019; 39(8):e641-e646Garman CR, Graf A, … Harris G
  • CONCLUSIONS: Together, these findings provide a comprehensive description of gait characteristics among a group of individuals with type I OI. Such data inform clinicians about specific gait deviations in this population allowing clinicians to recommend more focused interventions.
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