Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity

Primer-Directed Enzymatic Amplification of DNA with a Thermostable DNA Polymerase

1988 • 17,059 citations

Analysis of enzymatically amplified β-globin and HLA-DQα DNA with allele-specific oligonucleotide probes

1986 • 1,863 citations

Biogenesis of Mitochondria

1988 • 1,396 citations

Goodman and Gilman's The Pharmacological Basis of Therapeutics

1991 • 1,330 citations

Maternal inheritance of human mitochondrial DNA.

1980 • 1,327 citations

Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness

1993 • 1,173 citations

Interaction of antibiotics with functional sites in 16S ribosomal RNA

1987 • 1,143 citations

Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness

1992 • 1,103 citations

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

1992 • 612 citations

Detection of sickle cell beta S-globin allele by hybridization with synthetic oligonucleotides.

1983 • 536 citations

Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA

1992 • 408 citations

Oxidative Phosphorylation Diseases

1990 • 338 citations

The nucleotide sequence of the 17S ribosomal RNA gene of Tetrahymena thermophila and the identification of point mutations resulting in resistance to the antibiotics paromomycin and hygromycin.

1985 • 198 citations

Identification of the paromomycin-resistance mutation in the 15 S rRNA gene of yeast mitochondria.

1982 • 188 citations

Genetic aspects of antibiotic induced deafness: mitochondrial inheritance.

1991 • 164 citations

Sensorineural deafness inherited as a tissue specific mitochondrial disorder.

1992 • 101 citations

Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts

1981 • 95 citations

Aminoglycoside Ototoxicity.

1982 • 84 citations

[49] Hybridization of genomic DNA to oligonucleotide probes in the presence of tetramethylammonium chloride

1987 • 78 citations

Unique inheritance of streptomycininduced deafness

1989 • 73 citations

Cross-linking of streptomycin to the 16S ribosomal RNA of Escherichia coli

1987 • 56 citations

Polymerase chain reaction amplification of dna from archival celloidin‐embedded human temporal bone sections

1993 • 32 citations

Biochemical characterization of a pedigree with mitochondrially inherited deafness

1992 • 30 citations

Human genetic diseases: A practical approach

1986 • 21 citations