Type V osteogenesis imperfecta: a new form of brittle bone disease.
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Bisphosphonate therapy for osteogenesis imperfectaBisphosphonate therapy for osteogenesis imperfectaA novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factorPhenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutationSyndromes with congenital brittle bonesOsteogenesis imperfecta due to mutations in non-collagenous genes: lessons in the biology of bone formationNew genes in bone development: what's new in osteogenesis imperfectaOsteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessmentOsteopotentia regulates osteoblast maturation, bone formation, and skeletal integrity in miceCRTAP deficiency leads to abnormally high bone matrix mineralization in a murine model and in children with osteogenesis imperfecta type VIIMutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta.Osteogenesis imperfecta: a case report and review of literature.Potential implications of cell therapy for osteogenesis imperfecta.Recent advances in osteogenesis imperfecta.Mapping the ligand-binding sites and disease-associated mutations on the most abundant protein in the human, type I collagen.Bone mass, bone markers and prevalence of fractures in adults with osteogenesis imperfecta.Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.Osteoporosis in childhood: bone density of children in health and disease.Osteoporosis in children and adolescents: diagnosis, risk factors, and prevention.Bisphosphonate therapy for osteogenesis imperfecta.The radiographic approach to child abuse.Case report: osteogenesis imperfecta Elusive cause of fractures.The effects of intravenous pamidronate on the bone tissue of children and adolescents with osteogenesis imperfecta.Modeling the benefits of pamidronate in children with osteogenesis imperfecta.Phenotype and genotype analysis of Chinese patients with osteogenesis imperfecta type V.Fassier-Duval femoral rodding in children with osteogenesis imperfecta receiving bisphosphonates: functional outcomes at one year.Genetic evaluation of suspected osteogenesis imperfecta (OI).Type V OI primary osteoblasts display increased mineralization despite decreased COL1A1 expression.Phenotypic characterization of skeletal abnormalities of Osteopotentia mutant mice by micro-CT: a descriptive approach with emphasis on reconstruction techniquesA transgenic mouse model of OI type V supports a neomorphic mechanism of the IFITM5 mutationThe IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type VGene therapy approaches for osteogenesis imperfecta.Stapes surgery in osteogenesis imperfecta in Finland.Neutral sphingomyelinase 2 deficiency increases hyaluronan synthesis by up-regulation of Hyaluronan synthase 2 through decreased ceramide production and activation of AktOsteogenesis Imperfecta: A Review with Clinical Examples.Spondylolisthesis caused by extreme pedicle elongation in osteogenesis imperfecta.A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.Unexplained fractures in infancy: looking for fragile bones.Bisphosphonate treatment in osteogenesis imperfecta: which drug, for whom, for how long?
P2860
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P2860
Type V osteogenesis imperfecta: a new form of brittle bone disease.
description
2000 nî lūn-bûn
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2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
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2000年の論文
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2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Type V osteogenesis imperfecta: a new form of brittle bone disease.
@ast
Type V osteogenesis imperfecta: a new form of brittle bone disease.
@en
type
label
Type V osteogenesis imperfecta: a new form of brittle bone disease.
@ast
Type V osteogenesis imperfecta: a new form of brittle bone disease.
@en
prefLabel
Type V osteogenesis imperfecta: a new form of brittle bone disease.
@ast
Type V osteogenesis imperfecta: a new form of brittle bone disease.
@en
P2093
P1476
Type V osteogenesis imperfecta: a new form of brittle bone disease.
@en
P2093
Glorieux DF
Glorieux FH
Roughley P
P304
P356
10.1359/JBMR.2000.15.9.1650
P577
2000-09-01T00:00:00Z