Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

1970 • 253,849 citations

Short-Term Effects of Nose-Only Cigarette Smoke Exposure on Glutathione Redox Homeostasis, Cytochrome P450 1A1/2 and Respiratory Enzyme Activities in Mice Tissues

2013 • 47,043 citations

Genetic heterogeneity in osteogenesis imperfecta.

1979 • 2,147 citations

X-RAY-INDUCED MUTATIONS IN MICE

1951 • 486 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

Retroviruses as probes for mammalian development: Allocation of cells to the somatic and germ cell lineages

1986 • 213 citations

Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta.

1984 • 195 citations

Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

1985 • 192 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

Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.

1981 • 170 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

Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta.

1983 • 121 citations

Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA.

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

Germinal mosaicism in achondroplasia: a family with 3 affected siblings of normal parents

1983 • 71 citations

Germinal mosaicism in Apert syndrome

1986 • 66 citations

Peptide Mapping of Collagen Chains Using CNBr Cleavage of Proteins Within Polyacrylamide Gels

1981 • 63 citations

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

1982 • 63 citations

Osteogenesis imperfecta type IIA: evidence for dominant inheritance.

1987 • 52 citations

Dominant ectrodactyly and possible germinal mosaicism.

1972 • 36 citations

A pedigree of aniridia with a discussion of germinal mosaicism in man.

1955 • 34 citations

Evidence from Mutable Genes Concerning the Origin of the Germ Line

1978 • 16 citations

Possible gonadal mosaicism in a family with hemoglobin Köln.

1980 • 14 citations

Molecular Basis of Inherited Disorders of Collagen Biosynthesis: Implications for Prenatal Diagnosis1

2015 • 8 citations