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Bisphosphonate therapy for osteogenesis imperfectaBisphosphonate therapy for osteogenesis imperfectaLack of cyclophilin B in osteogenesis imperfecta with normal collagen foldingProlyl 3-hydroxylase 1 null mice display abnormalities in fibrillar collagen-rich tissues such as tendons, skin, and bonesProlyl 3-hydroxylase 1 and CRTAP are mutually stabilizing in the endoplasmic reticulum collagen prolyl 3-hydroxylation complexA novel IFITM5 mutation in severe atypical osteogenesis imperfecta type VI impairs osteoblast production of pigment epithelium-derived factorOsteogenesis imperfecta: translation of mutation to phenotypeExome sequencing identifies truncating mutations in human SERPINF1 in autosomal-recessive osteogenesis imperfectaCRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysisPhenotypic variability of osteogenesis imperfecta type V caused by an IFITM5 mutationNull mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfectaMolecular and mesoscale mechanisms of osteogenesis imperfecta disease in collagen fibrilsSyndromes with congenital brittle bonesRecent developments in osteogenesis imperfectaBisphosphonate therapy in pediatric patientsNew genes in bone development: what's new in osteogenesis imperfectaOsteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessmentA cephalometric method to diagnosis the craniovertebral junction abnormalities in osteogenesis imperfecta patientsSome chondrodysplasias with short limbs: molecular perspectivesRecognizing and treating secondary osteoporosisMutational and structural characteristics of four novel heterozygous C-propeptide mutations in the proα1(I) collagen gene in Chinese osteogenesis imperfecta patients.Prolyl 3-hydroxylase-1 null mice exhibit hearing impairment and abnormal morphology of the middle ear bone joints.The severity of Osteogenesis imperfecta and type I collagen pattern in human skin as determined by nonlinear microscopy: proof of principle of a diagnostic method.Hip Dysplasia in Children With Osteogenesis Imperfecta: Association With Collagen Type I C-Propeptide MutationsManaging the patient with osteogenesis imperfecta: a multidisciplinary approach.Congenital generalised bone dysplasias: a clinical, radiological, and epidemiological surveyClinical variability of osteogenesis imperfecta linked to COL1A2 and associated with a structural defect in the type I collagen molecule.The clinicopathological features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by valine in the pro alpha 1 (I) chain of type I procollagenOsteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsibleDetermination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation.Prenatal diagnosis of osteogenesis imperfecta by identification of the concordant collagen 1 allele.Characterisation of a glycine to valine substitution at amino acid position 910 of the triple helical region of type III collagen in a patient with Ehlers-Danlos syndrome type IVThe clinical features of three babies with osteogenesis imperfecta resulting from the substitution of glycine by arginine in the pro alpha 1(I) chain of type I procollagen.Substitution of cysteine for glycine at residue 415 of one allele of the alpha 1(I) chain of type I procollagen in type III/IV osteogenesis imperfecta.Segregation analysis of dominant osteogenesis imperfecta in ItalyThe clinical features of osteogenesis imperfecta resulting from a non-functional carboxy terminal pro alpha 1(I) propeptide of type I procollagen and a severe deficiency of normal type I collagen in tissuesWHOLE-BODY VIBRATION EXERCISE IMPROVES FUNCTIONAL PARAMETERS IN PATIENTS WITH OSTEOGENESIS IMPERFECTA: A SYSTEMATIC REVIEW WITH A SUITABLE APPROACH.Induced ablation of Bmp1 and Tll1 produces osteogenesis imperfecta in mice.Familial dentinogenesis imperfecta, blue sclerae, and wormian bones without fractures: another type of osteogenesis imperfecta?Collagen genes and proteins in osteogenesis imperfecta.
P2860
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P2860
description
1979 nî lūn-bûn
@nan
1979 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1979 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1979年の論文
@ja
1979年論文
@yue
1979年論文
@zh-hant
1979年論文
@zh-hk
1979年論文
@zh-mo
1979年論文
@zh-tw
1979年论文
@wuu
name
Genetic heterogeneity in osteogenesis imperfecta
@nl
Genetic heterogeneity in osteogenesis imperfecta.
@ast
Genetic heterogeneity in osteogenesis imperfecta.
@en
Genetic heterogeneity in osteogenesis imperfecta.
@en-gb
type
label
Genetic heterogeneity in osteogenesis imperfecta
@nl
Genetic heterogeneity in osteogenesis imperfecta.
@ast
Genetic heterogeneity in osteogenesis imperfecta.
@en
Genetic heterogeneity in osteogenesis imperfecta.
@en-gb
prefLabel
Genetic heterogeneity in osteogenesis imperfecta
@nl
Genetic heterogeneity in osteogenesis imperfecta.
@ast
Genetic heterogeneity in osteogenesis imperfecta.
@en
Genetic heterogeneity in osteogenesis imperfecta.
@en-gb
P2093
P2860
P3181
P356
P1476
Genetic heterogeneity in osteogenesis imperfecta.
@en
P2093
P2860
P304
P3181
P356
10.1136/JMG.16.2.101
P407
P577
1979-04-01T00:00:00Z