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European Spine Journal, ISSN 0940-6719, 9/2018, Volume 27, Issue 9, pp. 2079 - 2084
The objective of this article is to report a case of type V osteogenesis imperfecta (OI) undergoing posterior instrumented fusion for scoliosis. Type V OI is a... 
Surgical Orthopedics | Medicine & Public Health | Type V | Scoliosis | Surgery | Hyperplastic ossification | Osteogenesis imperfecta | Neurosurgery | INSTRUMENTATION | FORM | PHENOTYPIC VARIABILITY | CLINICAL NEUROLOGY | CHILDREN | SPINE | GENE | MUTATION | OPERATIVE TREATMENT | ORTHOPEDICS | Dysplasia | Callus | Mineralization | Case reports | Bone dysplasia | Bone (endochondral) | Osteogenesis | Ossification
Journal Article
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 09/2017, Volume 32, Issue 9, pp. 1884 - 1892
In co ntrast to "classical" forms of osteogenesis imperfecta (OI) types I to IV, caused by a mutation in COL1A1/A2, OI type V is due to a gain-of-function... 
OSTEOGENESIS IMPERFECTA TYPE V | QUANTITATIVE BACKSCATTERED ELECTRON IMAGING | MATRIX MINERALIZATION | BISPHOSPHONATE TREATMENT | OSTEOCYTE LACUNAE | PAMIDRONATE | GENOTYPE | COLLAGEN MUTATIONS | PHENOTYPIC VARIABILITY | MINERALIZATION DENSITY | HYPERPLASTIC CALLUS | CHILDREN | IFITM5 MUTATION | ADOLESCENTS | ENDOCRINOLOGY & METABOLISM | BIOPSIES | Calcinosis - genetics | Cancellous Bone - metabolism | Osteogenesis Imperfecta - metabolism | Humans | Child, Preschool | Osteogenesis Imperfecta - genetics | Calcinosis - diagnostic imaging | Male | Bone Density - genetics | Cancellous Bone - diagnostic imaging | Collagen Type I - genetics | Female | Membrane Proteins - metabolism | Calcinosis - metabolism | Child | Osteogenesis - genetics | Calcinosis - drug therapy | Collagen Type I - metabolism | Osteocytes - metabolism | Membrane Proteins - genetics | Osteogenesis - drug effects | Osteogenesis Imperfecta - drug therapy | Osteogenesis Imperfecta - diagnostic imaging | Diphosphonates - administration & dosage | Cortical Bone - metabolism | Bone Density - drug effects | Adolescent | Osteocytes - pathology | Cortical Bone - diagnostic imaging | Osteogenesis imperfecta | Bones | Density | Callus | Collagen (type I) | Calcium | Bone remodelling | Bisphosphonates | Pamidronic acid | Polarized light | Ossification | Bone growth | Forearm | Computed tomography | Biopsy | Mineralization | Dentinogenesis | Dentinogenesis imperfecta | Bone density | Interferon | Children | Mutation | Bone imaging | Osteogenesis | Bone (cancellous) | Index Medicus | Matrix mineralization | Osteocyte lacunae | Osteogenesis imperfecta type V | Bisphosphonate treatment | quantitative Backscattered Electron Imaging
Journal Article
by Cao, YJ and Wei, Z and Zhang, H and Zhang, ZL
FRONTIERS IN ENDOCRINOLOGY, ISSN 1664-2392, 06/2019, Volume 10, pp. 375 - 375
Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by bone fragility and is characterized by clinical and genetic... 
phenotype | RECURRENT MUTATION | CAFFEY-DISEASE | BONE-MINERAL DENSITY | osteogenesis imperfecta type V | PHENOTYPIC VARIABILITY | variability | SCOLIOSIS | CHILDREN | mutation | POLYMORPHISMS | 5'-UTR | ENDOCRINOLOGY & METABOLISM | IFITM5 | INFANTILE CORTICAL HYPEROSTOSIS | GENOTYPE-PHENOTYPE | Gene mutations | Osteogenesis imperfecta | Research
Journal Article