Osteogenesis imperfecta type VII: an autosomal recessive form of brittle bone disease
… Osteogenesis imperfecta (OI) is a heritable disease of bone with low bone mass and bone
fragility. The disease is generally classified into four types … form of the disease OI type VII. The …
fragility. The disease is generally classified into four types … form of the disease OI type VII. The …
Intravenous pamidronate in osteogenesis imperfecta type VII
MS Cheung, FH Glorieux, F Rauch - Calcified tissue international, 2009 - Springer
… There is no information about the effects of pamidronate in children with OI type VII, an … OI
type VII (age range 3.9–12.7 years) to those in eight girls with OI types caused by collagen type …
type VII (age range 3.9–12.7 years) to those in eight girls with OI types caused by collagen type …
Classification of osteogenesis imperfecta revisited
… We propose a revised classification of OI with exclusion of OI type VII and VIII since these
types have been added because of genetic criteria (autosomal recessive inheritance) while the …
types have been added because of genetic criteria (autosomal recessive inheritance) while the …
Non-lethal type VIII osteogenesis imperfecta has elevated bone matrix mineralization
N Fratzl-Zelman, AM Barnes, MA Weis… - The Journal of …, 2016 - academic.oup.com
… of bone with low mineralization was increased in type VIII OI bone, compared to type VII OI.
… -Whitney test to directly compare Ca Low between cases with OI type VIII and OI type VII. …
… -Whitney test to directly compare Ca Low between cases with OI type VIII and OI type VII. …
CRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VII
… type VII patients a significant increase in mean (CaMean) and most frequent mineral concentration
(CaPeak) compared to wild-type … − mice but normal in OI type VII patients. The fraction …
(CaPeak) compared to wild-type … − mice but normal in OI type VII patients. The fraction …
Osteogenesis imperfecta type VII maps to the short arm of chromosome 3
… We called this disorder OI type VII, in keeping with the numeric classification of OI forms.13,
14 Herein we present results that allowed mapping of the disease locus to the short arm of …
14 Herein we present results that allowed mapping of the disease locus to the short arm of …
Dental and craniofacial defects in the Crtap−/− mouse model of osteogenesis imperfecta type VII
H Xu, SA Lenhart, EY Chu, MB Chavez… - Developmental …, 2020 - Wiley Online Library
… Inactivating mutations in the gene for cartilage-associated protein (CRTAP) cause osteogenesis
imperfecta type VII in humans, with a phenotype that can include craniofacial defects. …
imperfecta type VII in humans, with a phenotype that can include craniofacial defects. …
Osteogenesis imperfecta: epidemiology and pathophysiology
E Martin, JR Shapiro - Current osteoporosis reports, 2007 - Springer
… Three new phenotypes have been added, of which one, type VII, is the result of mutations
of the cartilage-associated protein (CRTAP) gene. Investigation of recessive forms of OI …
of the cartilage-associated protein (CRTAP) gene. Investigation of recessive forms of OI …
Osteogenesis imperfecta
A Forlino, JC Marini - The Lancet, 2016 - thelancet.com
… Ehlers-Danlos syndrome VII A if COL1A1 is affected or Ehlers-Danlos syndrome VII B if
COL1A2 is affected (figure 1). Ehlers-Danlos syndrome type VII cases show tissue hyperlaxity, …
COL1A2 is affected (figure 1). Ehlers-Danlos syndrome type VII cases show tissue hyperlaxity, …
Osteogenesis imperfecta types I, III, and IV: effect of pamidronate therapy on bone and mineral metabolism
F Rauch, H Plotkin, R Travers, L Zeitlin… - The Journal of …, 2003 - academic.oup.com
… However, some patients fulfilling the Sillence criteria for OI type IV were not included in this
group because they could be further classified as having OI type V, VI, or VII on the basis of …
group because they could be further classified as having OI type V, VI, or VII on the basis of …
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