Fragile X gene instability: anchoring AGGs and linked microsatellites.

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

1993 • 7,941 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

Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member

1992 • 2,719 citations

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

1991 • 2,062 citations

High resolution of human evolutionary trees with polymorphic microsatellites

1994 • 1,868 citations

A second-generation linkage map of the human genome

1992 • 1,721 citations

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1994 • 1,698 citations

Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1

1993 • 1,596 citations

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

1991 • 1,482 citations

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

1990 • 1,371 citations

Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)

1994 • 1,122 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

Mammalian subtilisins: The long-sought dibasic processing endoproteases

1991 • 756 citations

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland

1992 • 571 citations

Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation

1993 • 522 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

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

1994 • 472 citations

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles

1994 • 357 citations

Dynamic mutations: A new class of mutations causing human disease

1992 • 315 citations

Identification of an origin of bidirectional DNA replication in mammalian chromosomes

1990 • 288 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 Nucleosome Assembly at DNA Triplet Repeats from the Myotonic Dystrophy Gene

1994 • 235 citations

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

1993 • 226 citations

Origin of the expansion mutation in myotonic dystrophy

1993 • 213 citations

Spinocerebellar ataxia type 1

1995 • 190 citations

Evidence of founder chromosomes in fragile X syndrome

1992 • 187 citations

DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence

1994 • 180 citations

Advances in Molecular Analysis of Fragile X Syndrome

1994 • 176 citations

Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE

1994 • 167 citations

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

1994 • 156 citations

Implications of FRA16A Structure for the Mechanism of Chromosomal Fragile Site Genesis

1994 • 140 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

Precursor arrays for triplet repeat expansion at the fragile X locus

1994 • 124 citations

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

1994 • 91 citations

Characteristics of polymorphism at a VNTR locus 3' to the apolipoprotein B gene in five human populations.

1992 • 81 citations

A complex mutable polymorphism located within the fragile X gene

1993 • 69 citations

Disruption of genes in the retinoid cascade may explain the microscopic neuroblastoma in a fetus with de novo unbalanced translocation (3;10)(q21;q26)

1995 • 68 citations

Striking Founder Effect for the Fragile X Syndrome in Finland

1993 • 60 citations

Origins of the fragile X syndrome mutation.

1993 • 54 citations

Distribution of FMR‐1 and associated microsatellite alleles in a normal Chinese population

1994 • 50 citations

Loss of mutation at the FMR1 locus through multiple exchanges between maternal X chromosomes

1994 • 49 citations

Founder effect in a Belgian-Dutch fragile X population

1993 • 44 citations

Fragile X founder chromosome effects: Linkage disequilibrium or microsatellite heterogeneity?

1994 • 39 citations

Haplotype analysis at the FRAXA locus in the Japanese population

1994 • 38 citations

Myotonic dystrophy CTG repeats and the associated insertion/deletion polymorphism in human and primate populations.

1994 • 24 citations