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Association between juvenile idiopathic arthritis and osteogenesis imperfecta: case reportOsteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessmentA cephalometric method to diagnosis the craniovertebral junction abnormalities in osteogenesis imperfecta patientsIsolated olecranon fractures in children affected by osteogenesis imperfecta type I treated with single screw or tension band wiring system: Outcomes and pitfalls in relation to bone mineral densityBone geometry, density, and microarchitecture in the distal radius and tibia in adults with osteogenesis imperfecta type I assessed by high-resolution pQCT.Current and emerging treatments for the management of osteogenesis imperfecta.Skeletal muscle weakness in osteogenesis imperfecta miceRib cage deformities alter respiratory muscle action and chest wall function in patients with severe osteogenesis imperfectaInterdisciplinary Care Improves Functional Mobility in an Individual with Type IX Osteogenesis Imperfecta.The IFITM5 mutation c.-14C > T results in an elongated transcript expressed in human bone; and causes varying phenotypic severity of osteogenesis imperfecta type VClinical application of antenatal genetic diagnosis of osteogenesis imperfecta type IV.A scoring system for the assessment of clinical severity in osteogenesis imperfecta.Osteogenesis Imperfecta: A Review with Clinical Examples.Perinatal lethal type II osteogenesis imperfecta: a case report.A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.The influence of ibandronate treatment on bone density and biochemical bone markers in patients with osteogenesis imperfecta.Clinical and Molecular Characterization of Osteogenesis Imperfecta Type V.Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.Next-generation sequencing for disorders of low and high bone mineral density.Osteogenesis imperfecta without features of type V caused by a mutation in the IFITM5 gene.Potential of human fetal chorionic stem cells for the treatment of osteogenesis imperfectaWhole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome.Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfectaLiving donor liver transplantation for an infant with osteogenesis imperfecta and intrahepatic cholestasis: report of a case.New perspectives on osteogenesis imperfectaOsteogenesis imperfecta in adults: phenotypic characteristics and response to treatment in an Irish cohort.A brilliant breakthrough in OI type V.The collagenopathies: review of clinical phenotypes and molecular correlations.Stem cell transplantation before birth - a realistic option for treatment of osteogenesis imperfecta?Classification of osteogenesis imperfecta.Rare diseases in clinical endocrinology: a taxonomic classification system.Femoral geometric parameters and BMD measurements by DXA in adult patients with different types of osteogenesis imperfecta.EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta.Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.Pregnancy outcomes in women with osteogenesis imperfecta: a retrospective cohort study.Clinical utility gene card for: osteogenesis imperfecta.Osteogenesis imperfecta Type IV: a newly identified variant at position c.560 (G > T; p.Gly187Val) in the COL1A2 gene.Association between spondylolisthesis and L5 fracture in patients with Osteogenesis Imperfecta.A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities.Identification of a candidate mutation in the COL1A2 gene of a Chow Chow with osteogenesis imperfecta.
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 28 October 2009
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Classification of Osteogenesis Imperfecta revisited.
@en
Classification of Osteogenesis Imperfecta revisited.
@nl
type
label
Classification of Osteogenesis Imperfecta revisited.
@en
Classification of Osteogenesis Imperfecta revisited.
@nl
prefLabel
Classification of Osteogenesis Imperfecta revisited.
@en
Classification of Osteogenesis Imperfecta revisited.
@nl
P2093
P1476
Classification of Osteogenesis Imperfecta revisited.
@en
P2093
F S Van Dijk
J M Cobben
P G J Nikkels
R R Van Rijn
P356
10.1016/J.EJMG.2009.10.007
P577
2009-10-28T00:00:00Z