An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy

The Protein Kinase Family: Conserved Features and Deduced Phylogeny of the Catalytic Domains

1988 • 5,115 citations

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

1991 • 3,422 citations

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

1991 • 2,763 citations

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

1991 • 2,062 citations

Absence of expression of the FMR-1 gene in fragile X syndrome

1991 • 1,456 citations

DNA typing and genetic mapping with trimeric and tetrameric tandem repeats.

1991 • 1,170 citations

Three different genes in S. cerevisiae encode the catalytic subunits of the cAMP-dependent protein kinase

1987 • 703 citations

Genomic imprinting: review and relevance to human diseases.

1990 • 621 citations

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

1992 • 497 citations

The Metabolic Basis of Inherited Disease.

1991 • 409 citations

Direct evidence that oncogenic tyrosine kinases and cyclic AMP-dependent protein kinase have homologous ATP-binding sites

1984 • 345 citations

Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families

1990 • 328 citations

Amino acid sequence of the catalytic subunit of bovine type II adenosine cyclic 3',5'-phosphate-dependent protein kinase

1983 • 185 citations

Spinocerebellar ataxia: Variable age of onset and linkage to human leukocyte antigen in a large kindred

1988 • 124 citations

Patterns of inheritance of the symptoms of Huntington's disease suggestive of an effect of genomic imprinting.

1991 • 50 citations

A new polymorphic probe which defines the region of chromosome 19 containing the myotonic dystrophy locus.

1990 • 49 citations

Physical and genetic characterization of the distal segment of the myotonic dystrophy area on 19q

1992 • 35 citations

Identification of variable simple sequence motifs in 19q13.2-qter: Markers for the myotonic dystrophy locus

1991 • 33 citations

Physical mapping and cloning of the proximal segment of the myotonic dystrophy gene region

1992 • 20 citations