Length of uninterrupted CGG repeats determines instability in the FMR1 gene

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

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

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

Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair

1993 • 1,076 citations

Hypermutability and mismatch repair deficiency in RER+ tumor cells

1993 • 1,042 citations

Fragile X Genotype Characterized by an Unstable Region of DNA

1991 • 794 citations

Complex gene conversion events in germline mutation at human minisatellites

1994 • 491 citations

Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I

1993 • 473 citations

Instability of short tandem repeats (microsatellites) in human cancers

1994 • 413 citations

Simple repeat DNA is not replicated simply

1994 • 314 citations

EUKARYOTIC DNA REPLICATION

1986 • 298 citations

The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm

1993 • 265 citations

Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test

1993 • 261 citations

Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG–repeat

1993 • 257 citations

Preferential DNA secondary structure mutagenesis in the lagging strand of replication in E. coli

1991 • 230 citations

Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population.

1993 • 226 citations

Fragile-X syndrome: unique genetics of the heritable unstable element.

1992 • 201 citations

Evidence of founder chromosomes in fragile X syndrome

1992 • 187 citations

Advances in Molecular Analysis of Fragile X Syndrome

1994 • 176 citations

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation.

1992 • 170 citations

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site.

1991 • 141 citations

Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes.

1993 • 131 citations

A Tetranucleotide Repeat Mouse Minisatellite Displaying Substantial Somatic Instability during Early Preimplantation Development

1993 • 98 citations

Allelic diversity at minisatellite MS205 (D16S309): evidence for polarized variability

1993 • 92 citations

Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation

1994 • 91 citations

Detection of full fragile X mutation

1992 • 89 citations

Robust amplification and ethidium‐visible detection of the fragile X syndrome CGG repeat using Pfu polymerase

1994 • 81 citations

Frequency and stability of the fragile X premutation

1994 • 80 citations

"Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes.

1993 • 72 citations

Purine utilisation, de novo synthesis and degradation in mouse preimplantation embryos

1992 • 67 citations

Eukaryotic DNA replication

1990 • 64 citations

Origins of the fragile X syndrome mutation.

1993 • 54 citations

Isolation of a human DNA sequence which spans the fragile X.

1991 • 47 citations

Assembly of simian virus 40 Okazaki pieces from DNA primers is reversibly arrested by ATP depletion

1992 • 45 citations

Founder effect in a Belgian-Dutch fragile X population

1993 • 44 citations