Ehlers‐Danlos syndrome type IV D: an autosomal recessive disorder

PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT

1951 • 319,299 citations

The limited in vitro lifetime of human diploid cell strains

1965 • 5,595 citations

A simple, rapid, and sensitive DNA assay procedure

1980 • 5,006 citations

The Biosynthesis of Collagen and Its Disorders

1979 • 1,067 citations

Mendelian Inheritance in Man

1987 • 599 citations

The estimation of two collagens from human dermis by interrupted gel electrophoresis

1976 • 564 citations

Patients with Ehlers-Danlos syndrome type IV lack type III collagen.

1975 • 421 citations

A Heritable Disorder of Connective Tissue

1972 • 412 citations

Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos Syndrome

1973 • 257 citations

An improved method for determining specific radioactivities of proline-14C and hydroxyproline-14C in collagen and in noncollagenous proteins

1974 • 244 citations

X-Linked Cutis Laxa

1980 • 206 citations

Biosynthesis of Collagen Crosslinks: Increased Activity of Purified Lysyl Oxidase with Reconstituted Collagen Fibrils

1974 • 178 citations

Heterogeneity of the Ehlers-Danlos syndrome: description of three clinical types and a hypothesis to explain the basic defect(s).

1967 • 176 citations

Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

1980 • 160 citations

Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome

1979 • 129 citations

Lysyl Oxidase Deficiency in Ehlers–Danlos Syndrome Type V

1975 • 122 citations

A new form of Ehlers-Danlos syndrome. Fibronectin corrects defective platelet function.

1980 • 113 citations

Mitral valve prolapse: a consistent manifestation of type IV Ehlers-Danlos syndrome. The pathogenetic role of the abnormal production of type III collagen.

1981 • 109 citations

Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.

1982 • 108 citations

Ehlers-Danlos syndrome with abnormal collagen fibrils, sinus of Valsalva aneurysms, myocardial infarction, panacinar emphysema and cerebral heterotopias

1981 • 106 citations

Production of Procollagen by Human Fibroblasts in Culture

1972 • 105 citations

Altered secretion of type III procollagen in a form of type IV Ehlers-Danlos syndrome. Biochemical studies in cultured fibroblasts.

1981 • 101 citations

Modification of the tritium-release assays for prolyl and lysyl hydroxylases using Dowex-50 columns

1975 • 99 citations

Inheritance of Ehlers-Danlos type IV syndrome.

1977 • 96 citations

Heritable Disorders of Connective Tissue: Ehlers-Danlos Syndrome

1978 • 96 citations

EDS IV (Acrogeria): New Autosomal Dominant and Recessive Types

1980 • 89 citations

Hydroxylysine-Deficient Skin Collagen in a Patient with a Form of the Ehlers-Danlos Syndrome

1974 • 86 citations

A New Form of Ehlers-Danlos Syndrome

1980 • 85 citations

Ehlers-Danlos syndrome.

1970 • 85 citations

A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis.

1977 • 78 citations

Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin.

1975 • 74 citations

Ehlers-Danlos syndrome type VIII

1981 • 68 citations

Inherited human collagen lysyl hydroxylase deficiency: Ascorbic acid response

1978 • 63 citations

Ehlers-Danlos syndrome presenting with juvenile destructive periodontitis

1979 • 59 citations

A distinct variant of the Ehlers‐Danlos syndrome

1979 • 45 citations

Modulation of Type I and Type III Collagen Production in Normal and Mutant Human Skin Fibroblasts by Cell Density, Prostaglandin E2 and Epidermal Growth Factor

1982 • 41 citations

Biochemical characteristics of Ehlers-Danlos syndrome type VI in a family with one affected infant

1979 • 38 citations

Biochemical characterization of variants of the Ehlers‐Danlos syndrome type VI

1983 • 35 citations

Molecular Mechanisms of Connective Tissue Abnormalities in the Ehlers-Danlos Syndrome

1981 • 31 citations

Changes in synthesis of types-I and -III collagen during matrix-induced endochondral bone differentiation in rat

1980 • 30 citations

Biochemical and immunological studies of fibroblasts derived from a patient with Ehlers-Danlos Syndrome Type IV

1980 • 29 citations

Third case of a distinct variant of the Ehlers‐Danlos Syndrome (EDS)

1981 • 27 citations

A rapid assay to measure collagen synthesis in cell cultures

1980 • 18 citations

Case 3-1979

1979 • 18 citations

A new presumably autosomal recessive form of the Ehlers‐Danlos syndrome

1979 • 16 citations

An unusual connective tissue disease in mother and son: A “new” type of Ehlers‐Danlos syndrome?

1982 • 6 citations