Trinucleotide repeats and genome variation

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

1993 • 7,941 citations

Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction.

1989 • 3,458 citations

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

1991 • 2,763 citations

Slipped-strand mispairing: a major mechanism for DNA sequence evolution.

1987 • 2,272 citations

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

1991 • 2,062 citations

Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

1992 • 1,609 citations

Instability of a 550-Base Pair DNA Segment and Abnormal Methylation in Fragile X Syndrome

1991 • 1,482 citations

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

1991 • 1,456 citations

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

1992 • 1,437 citations

Informativeness of human (dC-dA)n · (dG-dT)n polymorphisms

1990 • 1,371 citations

Fragile X Genotype Characterized by an Unstable Region of DNA

1991 • 794 citations

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

1992 • 721 citations

DNA methylation represses FMR-1 transcription in fragile X syndrome

1992 • 665 citations

Direct Diagnosis by DNA Analysis of the Fragile X Syndrome of Mental Retardation

1991 • 637 citations

MOLECULAR ARRANGEMENT AND EVOLUTION OF HETEROCHROMATIC DNA

1980 • 412 citations

The marker (X) syndrome: a cytogenetic and genetic analysis

1984 • 390 citations

Physical mapping across the fragile X: Hypermethylation and clinical expression of the fragile X syndrome

1991 • 357 citations

Dynamic mutations: A new class of mutations causing human disease

1992 • 315 citations

Decreased Expression of Myotonin-Protein Kinase Messenger RNA and Protein in Adult Form of Myotonic Dystrophy

1993 • 302 citations

MECHANISMS OF SPONTANEOUS AND INDUCED FRAMESHIFT MUTATION IN BACTERIOPHAGE T4

1985 • 292 citations

Estimation of microsatellite mutation rates in recombinant inbred strains of mouse

1992 • 217 citations

Evidence of founder chromosomes in fragile X syndrome

1992 • 187 citations

A family with adult spinal and bulbar muscular atrophy, X-linked inheritance and associated testicular failure

1983 • 170 citations

Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: Data for genetic counselling

1984 • 167 citations

Unequal crossingover between homologous chromosomes is not the major mechanism involved in the generation of new alleles at VNTR loci

1989 • 147 citations

Early dihydrofolate reductase gene amplification events in CHO cells usually occur on the same chromosome arm as the original locus.

1989 • 132 citations

Heterogeneity in Waardenburg syndrome.

1977 • 116 citations

Transcriptional enhancers can act in trans

1990 • 75 citations

Hereditary unstable DNA: a new explanation for some old genetic questions?

1991 • 73 citations

Stability and degradation of mRNA

1991 • 54 citations

Clinical conundrums in fragile X syndrome

1992 • 26 citations

DNA tertiary structures formedin vitroby misaligned hybridization of multiple tandem repeat sequences

1989 • 25 citations

Huntington’s Disease

1991 • 13 citations

Huntington's disease.

1991 • 12 citations