The type II collagenopathies: a spectrum of chondrodysplasias.
about
Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypesAutosomal recessive disorder otospondylomegaepiphyseal dysplasia is associated with loss-of-function mutations in the COL11A2 gene.Dominant mutations in the type II collagen gene, COL2A1, produce spondyloepimetaphyseal dysplasia, Strudwick typeMarshall syndrome associated with a splicing defect at the COL11A1 locus.The p63 gene in EEC and other syndromesReport of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorderClinical and Molecular genetics of Stickler syndromeDevelopment and characterization of a eukaryotic expression system for human type II procollagenIdentification of an evolutionarily conserved regulatory element of the zebrafish col2a1a gene.The deletion of six amino acids at the C-terminus of the alpha 1 (II) chain causes overmodification of type II and type XI collagen: further evidence for the association between small deletions in COL2A1 and Kniest dysplasiaAchondrogenesis type 1BProgressive pseudorheumatoid dysplasia: report of a family and review.Unique mutation portraits and frequent COL2A1 gene alteration in chondrosarcoma.A histological and ultrastructural study of femoral head cartilage in a new type II collagenopathyMutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia.Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report.An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita.A defect in the metabolic activation of sulfate in a patient with achondrogenesis type IBExpression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasia.Significant ocular findings are a feature of heritable bone dysplasias resulting from defects in type II collagenA novel type II collagen gene mutation in a family with spondyloepiphyseal dysplasia and extensive intrafamilial phenotypic diversityThe phenotypic spectrum in patients with arginine to cysteine mutations in the COL2A1 geneKniest Dysplasia: New Radiographic Features in the Skeleton.Loss of DDRGK1 modulates SOX9 ubiquitination in spondyloepimetaphyseal dysplasia.Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report.Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients.Dysspondyloenchondromatosis: Another COL2A1-Related Skeletal Dysplasia?Control of chondrocyte gene expression by actin dynamics: a novel role of cholesterol/Ror-alpha signalling in endochondral bone growth.Retarded skeletal development in transgenic mice with a type II collagen mutation.Double non-contiguous fractures in a patient with spondylo-epiphyseal dysplasia with spinal ankylosis treated with open and percutaneous spinal fixation technique: a case report.Mandibular Distraction in a Patient With Type II Collagenopathy.
P2860
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P2860
The type II collagenopathies: a spectrum of chondrodysplasias.
description
1994 nî lūn-bûn
@nan
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
1994年论文
@zh
1994年论文
@zh-cn
name
The type II collagenopathies: a spectrum of chondrodysplasias.
@en
type
label
The type II collagenopathies: a spectrum of chondrodysplasias.
@en
prefLabel
The type II collagenopathies: a spectrum of chondrodysplasias.
@en
P2093
P356
P1476
The type II collagenopathies: a spectrum of chondrodysplasias.
@en
P2093
A Winterpacht
J Spranger
P2888
P356
10.1007/S004310050086
P577
1994-02-01T00:00:00Z