A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils
Data up to Jan 2025
Total Citations Per Year
Abstract
References (43)
THE USE OF LEAD CITRATE AT HIGH pH AS AN ELECTRON-OPAQUE STAIN IN ELECTRON MICROSCOPY
1963 • 24,942 citations
IMPROVEMENTS IN EPOXY RESIN EMBEDDING METHODS
1961 • 10,270 citations
A formaldehyde - glutaraldehyde fixative of high osmolarity for use in electron microscopy
1965 • 5,954 citations
Embedding in Epoxy Resins for Ultrathin Sectioning in Electron Microscopy
1960 • 3,319 citations
Birth Defects Original Article Series
1970 • 783 citations
Biochemical characteristics and biological significance of the genetically-distinct collagens
1976 • 468 citations
The Biosynthesis of Collagen
1974 • 434 citations
A Heritable Disorder of Connective Tissue
1972 • 412 citations
Cross-Linking of Collagen
1973 • 384 citations
Cross-linking of collagen and elastin. Properties of lysyl oxidase
1970 • 342 citations
Birth Defects: Original Article Series, 8
1973 • 326 citations
Collagen Made of Extended alpha-Chains, Procollagen, in Genetically-Defective Dermatosparaxic Calves
1971 • 294 citations
Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome
1973 • 257 citations
Heterogeneity of Chondrodysplasia punctata
1971 • 236 citations
Ultrastructure of benign peripheral nerve sheath tumors
1966 • 234 citations
Dynamic Classification of Bone Dysplasias.
1965 • 187 citations
Dermatan sulfate-protein: Isolation from and interaction with collagen
1968 • 161 citations
Spondyloepiphyseal Dysplasia Congenita
1970 • 157 citations
Defects In The Biochemistry Of Collagen In Diseases Of Connective Tissue
1976 • 147 citations
A hereditary dysplasia of collagen tissues in sheep
1974 • 143 citations
The mucopolysaccharidoses (a review).
1976 • 129 citations
Amino-terminal extensions on skin collagen from sheep with a genetic defect in conversion of procollagen into collagen
1976 • 112 citations
Mammalian X-Chromosome Inactivation
1976 • 97 citations
THE ROENTGENOGRAPHIC FEATURES OF THE KS MUCOPOLYSACCHARIDOSIS OF MORQUIO (MORQUIO-BRAILSFORD'S DISEASE)
1966 • 97 citations
Morquio-Ullrich's Disease: An Inborn Error of Metabolism?
1962 • 96 citations
Collagen cross-linking. Effect of D-penicillamine on cross-linking in vitro.
1977 • 96 citations
Reducible Crosslinks in Hydroxylysine-Deficient Collagens of a Heritable Disorder of Connective Tissue
1972 • 88 citations
The tridimensional structure of native collagenous fibrils, their proteinaceous filaments
1971 • 84 citations
A collagenous tissue dysplasia of calves.
1970 • 80 citations
Collagen structure: Evidence for a helical organization of the collagen fibril
1977 • 78 citations
Binding and precipitation of soluble collagens by chick embryo cartilage proteoglycan.
1976 • 74 citations
FIBROUS LONG-SPACING COLLAGEN IN TUMORS OF THE NERVOUS SYSTEM* †
1965 • 67 citations
Genetic and Metabolic Eye Disease
1974 • 56 citations
DYSPLASIA SPONDYLOEPIPHYSARIA CONGENITA
1966 • 46 citations
Dynamic Classification of Bone Dysplasias
1965 • 41 citations
An X-linked form of cutis laxa due to deficiency of lysyl oxidase.
1976 • 33 citations
Late spondyloepiphyseal dysplasia; clinical and radiological description.
1957 • 21 citations
Chemical and enzymic studies of a family with skeletal abnormalities associated with mental retardation
1970 • 16 citations
Spondyloepiphyseal dysplasia
2011 • 9 citations
Electron microscopy as an aid to diagnosis of disorders of the extracellular matrix: a new type of spondyloepiphyseal dysplasia.
1978 • 8 citations
Helical structure of human native collagen.
1976 • 6 citations
Unusual multiple epiphyseal dysplasias.
1974 • 6 citations
Distinctive spondyloepiphyseal dysplasia in father and three children.
1974 • 1 citations
Cited By (0)
No citing papers found in database