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

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

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

Mapping of DNA Instability at the Fragile X to a Trinucleotide Repeat Sequence P(CCG) n

1991 • 903 citations

Fragile X Genotype Characterized by an Unstable Region of DNA

1991 • 794 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

A point mutation in the FMR-1 gene associated with fragile X mental retardation

1993 • 619 citations

The Origin and Evolution of Retroposons

1985 • 555 citations

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

1991 • 357 citations

A study of the origin of ‘shadow bands’ seen when typing dinucleotide repeat polymorphisms by the PCR

1993 • 246 citations

Hypervariable minisatellite DNA is a hotspot for homologous recombination in human cells

1990 • 226 citations

Fragile X syndrome without CCG amplification has an FMR1 deletion

1992 • 219 citations

Evidence of founder chromosomes in fragile X syndrome

1992 • 187 citations

A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile-X syndrome.

1992 • 173 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

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

Characterisation of a new rare fragile site easily confused with the fragile X

1992 • 115 citations

Prenatal Diagnosis of Fragile X Syndrome by Direct Detection of the Unstable DNA Sequence

1991 • 110 citations

Molecular heterogeneity of the fragile X syndrome

1991 • 105 citations

Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus.

1992 • 100 citations

Detection of full fragile X mutation

1992 • 89 citations

The identification of a third fragile site, FRAXF, in Xq27 — q28 distal to both FRAXA and FRAXE

1993 • 70 citations

Polymerase chain reaction analysis of fragile X mutations

1992 • 68 citations

Guidelines for the Preparation and Analysis of the Fragile X Chromosome in Lymphocytes

1991 • 56 citations

Ethidium bromide does not fluoresce when intercalated adjacent to 7-deazaguanine in duplex DNA

1991 • 54 citations

Genotype prediction in the fragile X syndrome.

1991 • 41 citations

Two families with Xq27.3 fragility, no detectable insert in the FMR‐1 gene, mild mental impairment, and absence of the Martin‐Bell phenotype

1992 • 26 citations

Analysis of mutations at the fragile X locus using the DNA probe Ox1.9

1992 • 24 citations

Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'.

1992 • 21 citations

Three families with high expression of a fragile site at Xq27.3, lack of anomalies at the FMR‐1 CpG Island, and no clear phenotypic association

1992 • 17 citations

High prevalence of the Fra(X) syndrome cannot be explained by a high mutation rate

1992 • 15 citations