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Multiple Epiphyseal Dysplasia

Known as: DYSPLASIA EPIPHYSEAL MULTIPLE 
National Institutes of Health

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13 relations
Bone Diseases, DevelopmentalCongenital osteodystrophyDyschondroplasiasEPIPHYSEAL DYSPLASIA, MULTIPLE, 4

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Double-Layered Patella (DLP) in Multiple Epiphyseal Dysplasia (MED)
Double-layered patella (DLP) is a rare form of bipartite patella, pathognomonic for a certain type of chondrodysplasia, named… 
2012
2012
Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation
Objective Mutations in matrilin 3 can result in multiple epiphyseal dysplasia (MED), a disease characterized by delayed and… 
Review
2009
Review
2009
Genetic mouse models for the functional analysis of the perifibrillar components collagen IX, COMP and matrilin-3: Implications for growth cartilage differentiation and endochondral ossification.
The mutual interaction of the two supramolecular compartments, the fibrillar and extrafibrillar matrix is a prerequisite for… 
2008
2008
Multiple functions of the von Willebrand Factor A domain in matrilins: secretion, assembly, and proteolysis
The von Willebrand Factor A (vWF A) domain is one of the most widely distributed structural modules in cell-matrix adhesive… 
2005
2005
Novel COL9A3 mutation in a family with multiple epiphyseal dysplasia
Multiple epiphyseal dysplasia (MED) is a common skeletal dysplasia characterized by mild to moderate short stature, early‐onset… 
2005
2005
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
Correction to: European Journal of Human Genetics (2005) 13, 292–301. doi:10.1038/sj.ejhg.5201314 The author name Malwina Czarny… 
2005
2005
Mutations in the known genes are not the major cause of MED; distinctive phenotypic entities among patients with no identified mutations
Multiple epiphyseal dysplasia (MED) is a clinically and genetically heterogeneous chondrodysplasia. Mutations in six genes (COMP… 
2001
2001
Magnetic resonance imaging of multiple epiphyseal dysplasia (type 2) of the knee
Purpose: The aim of this study was to determine the additional value of magnetic resonance imaging (MRI) in the knee joint of… 
1998
1998
Bilateral radial ray hypoplasia with multiple epiphyseal dysplasia.
We describe a 5-4/12-year-old girl with the unique combination of bilateral radial ray hypoplasia and multiple epiphyseal… 
1997
1997
Radiographic anthropometry in patients with multiple epiphyseal dysplasia.
OBJECTIVE This study investigated the diagnostic value of radiographic anthropometry in patients with multiple epiphyseal… 
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