Mutations in the V2 vasopressin receptor gene are associated with X–linked nephrogenic diabetes insipidus

Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia

1985 • 9,128 citations

Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms.

1989 • 3,707 citations

Molecular basis of base substitution hotspots in Escherichia coli

1978 • 1,185 citations

Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries.

1985 • 818 citations

Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia. 1985.

1992 • 740 citations

A family of receptors coupled to guanine nucleotide regulatory proteins

1987 • 636 citations

Molecular cloning of the receptor for human antidiuretic hormone

1992 • 529 citations

Cloning and characterization of a vasopressin V2 receptor and possible link to nephrogenic diabetes insipidus

1992 • 519 citations

Genetic studies of the lac repressor

1978 • 517 citations

In vitro mutagenesis and the search for structure-function relationships among G protein-coupled receptors

1992 • 470 citations

A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

1992 • 417 citations

Cysteine residues 110 and 187 are essential for the formation of correct structure in bovine rhodopsin.

1988 • 409 citations

Mutation spectrum of the rhodopsin gene among patients with autosomal dominant retinitis pigmentosa.

1991 • 364 citations

General method for direct cloning of DNA fragments generated by the polymerase chain reaction

1991 • 137 citations

Nephrogenic Diabetes Insipidus in North America — TheHopewellHypothesis

1969 • 96 citations

Nonisotopic SSCP detection in PCR products by ethidium bromide staining

1992 • 74 citations

Autosomal recessive inheritance of vasopressin‐resistant diabetes insipidus

1991 • 65 citations

Hereditary vasopressin-resistant urinary concentrating defects in mice

1969 • 47 citations

Derivatives of somatic cell hybrids which carry the human gene locus for nephrogenic diabetes insipidus (NDI) express functional vasopressin renal V2-type receptors.

1990 • 44 citations

Nephrogenic diabetes insipidus: close linkage with markers from the distal long arm of the human X chromosome

1988 • 40 citations

Familial nephrogenic diabetes insipidus.

1969 • 6 citations