Prenatal diagnosis of fragile X syndrome by direct detection of the dynamic mutation due to an unstable DNA sequence

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

1991 • 2,062 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

Fragile Sites on Human Chromosomes

1986 • 242 citations

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

1992 • 157 citations

Expression of the G6PD locus on the human X chromosome is associated with demethylation of three CpG islands within 100 kb of DNA.

1988 • 119 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

Detection of full fragile X mutation

1992 • 89 citations

Genotype mosaicism in fragile X fetal tissues

1992 • 63 citations

Fragile X syndrome: The molecular picture comes into focus

1992 • 37 citations

Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation

1992 • 29 citations

Direct DNA analysis of fragile X syndrome in Spanish pedigrees

1992 • 21 citations

Heritable unstable DNA sequences and hypermethylation associated with fragile X syndrome in Japanese families

1993 • 20 citations

Collaborative prospective study of the fragile X syndrome: One‐year progress report

1992 • 8 citations

Rapid preparation of diagnostic probes for the fragile X syndrome by direct PCR amplification of human chromosomal DNA

1992 • 7 citations

Prenatal Diagnosis of the Fragile-X Syndrome

1991 • 6 citations