9 Osteogenesis imperfecta

Genetic heterogeneity in osteogenesis imperfecta.

1979 • 2,147 citations

Heritable Diseases of Collagen

1984 • 572 citations

OSTEOGENESIS IMPERFECTA IS LINKED TO BOTH TYPE I COLLAGEN STRUCTURAL GENES

1986 • 445 citations

Embryonic lethal mutation in mice induced by retrovirus insertion into the α1(I) collagen gene

1983 • 422 citations

Osteogenesis Imperfecta

1981 • 378 citations

Germline integration of Moloney murine leukemia virus at the Mov13 locus leads to recessive lethal mutation and early embryonic death

1983 • 253 citations

Perinatal lethal osteogenesis imperfecta in transgenic mice bearing an engineered mutant pro-α1(I) collagen gene

1988 • 235 citations

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta.

1985 • 217 citations

Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneity

1986 • 216 citations

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

1984 • 207 citations

Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta

1983 • 180 citations

Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta

1984 • 176 citations

Osteogenesis imperfecta type II delineation of the phenotype with reference to genetic heterogeneity

1984 • 173 citations

Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen.

1982 • 137 citations

Retrovirus-induced lethal mutation in collagen I gene of mice is associated with an altered chromatin structure

1984 • 126 citations

Collagen defects in lethal perinatal osteogenesis imperfecta

1986 • 126 citations

Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta.

1985 • 125 citations

Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele.

1986 • 122 citations

Deletion of 24 amino acids from the pro-alpha 1(I) chain of type I procollagen in a patient with the Ehlers-Danlos syndrome type VII.

1986 • 120 citations

Collagen genes and inherited connective tissue disease

1985 • 120 citations

Retrovirus insertion inactivates mouse α 1(I) collagen gene by blocking initiation of transcription

1986 • 118 citations

Osteogenesis Imperfecta Nosology and Genetics

1988 • 117 citations

Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta.

1985 • 113 citations

Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta.

1983 • 107 citations

Lethal perinatal osteogenesis imperfecta due to the substitution of arginine for glycine at residue 391 of the alpha 1(I) chain of type I collagen.

1987 • 96 citations

Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.

1983 • 94 citations

A point mutation in a type I procollagen gene converts glycine 748 of the alpha 1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta.

1987 • 91 citations

Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.

1987 • 79 citations

Introduction of the human pro alpha 1(I) collagen gene into pro alpha 1(I)-deficient Mov-13 mouse cells leads to formation of functional mouse-human hybrid type I collagen.

1987 • 73 citations

A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide.

1980 • 73 citations

A heterozygous defect for structurally altered pro-alpha 2 chain of type I procollagen in a mild variant of osteogenesis imperfecta. The altered structure decreases the thermal stability of procollagen and makes it resistant to procollagen N-proteinase.

1984 • 68 citations

Heterogeneity of osteogenesis imperfecta type I.

1983 • 68 citations

Osteonectin, bone proteoglycan, and phosphophoryn defects in a form of bovine osteogenesis imperfecta.

1984 • 66 citations

Prenatal diagnosis of lethal perinatal osteogenesis imperfecta (OI Type II)

1982 • 63 citations

Clinical and Radiological Features of Osteogenesis Imperfecta Type IVA

1987 • 61 citations

Collagen genes and proteins in osteogenesis imperfecta.

1985 • 57 citations

Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.

1984 • 57 citations

The ocular form of osteogenesis imperfecta: a new autosomal recessive syndrome

1985 • 55 citations

Altered Helical Structure of a Homotrimer of α1(I)Chains Synthesized by Fibroblasts from a Variant of Osteogenesis Imperfecta

1985 • 53 citations

Osteogenesis imperfecta type IIA: evidence for dominant inheritance.

1987 • 52 citations

FRAGMENTATION AND RODDING IN OSTEOGENESIS IMPERFECTA

1965 • 52 citations

Clinical variability of osteogenesis imperfecta reflecting molecular heterogeneity: cysteine substitutions in the alpha 1(I) collagen chain producing lethal and mild forms.

1986 • 52 citations

The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-alpha 1(I) chains.

1986 • 51 citations

The Brittle Bone Syndrome: Osteogenesis Imperfecta

1983 • 47 citations

Scanning electron microscopy of teeth in dominant osteogenesis imperfecta: Support for genetic heterogeneity

1980 • 46 citations

Defects in the processing of procollagen to collagen are demonstrable in cultured fibroblasts from patients with the Ehlers-Danlos and osteogenesis imperfecta syndromes.

1986 • 45 citations

Marfan syndrome: exclusion of genetic linkage to the COL1A2 gene.

1986 • 39 citations

Fragilitas ossium: a new autosomal recessive mutation in the mouse

1981 • 38 citations

Heritable bone fragility, joint laxity and dysplastic dentin in Friesian calves: a bovine syndrome of osteogenesis imperfecta

1983 • 37 citations

Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta.

1986 • 36 citations

Osteogenesis imperfecta type IV. Biochemical confirmation of genetic linkage to the pro alpha 2(I) gene of type I collagen.

1986 • 34 citations

Structural study of a mutant type I collagen from a patient with lethal osteogenesis imperfecta containing an intramolecular disulfide bond in the triple‐helical domain

1986 • 30 citations

The molecular basis of clinical heterogeneity in osteogenesis imperfecta: Mutations in type I collagen genes have different effects on collagen processing

1985 • 30 citations

A structural mutation of the collagen alpha 1(I)CB7 peptide in lethal perinatal osteogenesis imperfecta.

1987 • 28 citations

Osteogenesis imperfecta: rehabilitation approach with infants and young children.

1984 • 27 citations

Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I.

1986 • 26 citations

The Brittle Bone Syndrome Osteogenesis Imperfecta.

1984 • 25 citations

Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen

1986 • 23 citations

Use of R-loop mapping for the assessment of human collagen mutations.

1986 • 22 citations

Mineralized tissue protein profiles in the Australian form of bovine osteogenesis imperfecta

1986 • 20 citations

Prenatal prediction of osteogenesis imperfecta (OI type IV): exclusion of inheritance using a collagen gene probe.

1987 • 14 citations

Isolation and characterization of bone cells from a patient with osteogenesis imperfecta type 1b.

1986 • 12 citations

New Aspects of Clinical and Cellular Pharmacodynamics of Methotrexate with Special Emphasis on Its Role in the Treatment of Acute Lymphoblastic Leukemia in Children

1987 • 10 citations

Connective tissue diseases: mutations of collagen genes.

1986 • 9 citations

Urinary-free amino acids in osteogenesis imperfecta

1986 • 5 citations