The fragile X syndrome.

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

Abnormal dendritic spines in fragile X knockout mice: Maturation and pruning deficits

1997 • 1,019 citations

Fragile X Genotype Characterized by an Unstable Region of DNA

1991 • 794 citations

The FMR–1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

1993 • 763 citations

FMR1 Protein: Conserved RNP Family Domains and Selective RNA Binding

1993 • 721 citations

Prevalence of fragile X syndrome

1996 • 707 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 X mental retardation protein is translated near synapses in response to neurotransmitter activation

1997 • 636 citations

The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein

1993 • 632 citations

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

1993 • 619 citations

Dendritic Spine "Dysgenesis" and Mental Retardation

1974 • 520 citations

Analysis of neocortex in three males with the fragile X syndrome

1991 • 506 citations

Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.

1979 • 488 citations

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

1994 • 472 citations

A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE

1943 • 470 citations

Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome

1994 • 442 citations

Tissue specific expression of FMR–1 provides evidence for a functional role in fragile X syndrome

1993 • 387 citations

The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals

1996 • 383 citations

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

1995 • 361 citations

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

1994 • 357 citations

Adult fragile X syndrome

1985 • 353 citations

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

1993 • 343 citations

Translational Suppression by Trinucleotide Repeat Expansion at FMR1

1995 • 323 citations

Molecular Basis of Genetic Instability of Triplet Repeats

1996 • 310 citations

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases.

1994 • 296 citations

Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain

1993 • 272 citations

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

1993 • 265 citations

Specific Sequences in the Fragile X Syndrome Protein FMR1 and the FXR Proteins Mediate Their Binding to 60S Ribosomal Subunits and the Interactions among Them

1996 • 261 citations

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

1993 • 257 citations

The fra(X) syndrome: Neurological, electrophysiological, and neuropathological abnormalities

1991 • 255 citations

The fragile X mental retardation protein is associated with ribosomes

1996 • 243 citations

Neurodevelopmental effects of the FMR-1 full mutation in humans

1995 • 240 citations

The fragile X mental retardation protein is associated with poly(A)+ mRNA in actively translating polyribosomes

1997 • 235 citations

High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR‐1 mutation associated with protein expression

1994 • 221 citations

Fragile X syndrome without CCG amplification has an FMR1 deletion

1992 • 219 citations

Screening and Diagnosis for the Fragile X Syndrome among the Mentally Retarded: An Epidemiological and Psychological Survey

1997 • 207 citations

Obstetrical and gynecological complications in fragile X carriers: A multicenter study

1994 • 202 citations

Mental status of females with an FMR1 gene full mutation.

1996 • 197 citations

Molecular-clinical correlations in males with an expanded FMR1 mutation

1996 • 196 citations

Characterization of the full fragile X syndrome mutation in fetal gametes

1997 • 196 citations

Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis

1997 • 195 citations

Alternative Splicing of Exon 14 Determines Nuclear or Cytoplasmic Localisation of FMR1 Protein Isoforms

1996 • 190 citations

Fine structure of the human FMR1 gene

1993 • 186 citations

Rapid antibody test for fragile X syndrome

1995 • 184 citations

Methylation analysis of CGG sites in the CpG island of the human FMR1 gene

1992 • 183 citations

A novel homeodomain-encoding gene is associated with a large CpG island interrupted by the myotonic dystrophy unstable (CTG)_n repeat

1995 • 181 citations

Transgenic mouse model for the fragile X syndrome

1996 • 177 citations

Normal phenotype in two brothers with a full FMR1 mutation

1995 • 175 citations

Mitotic stability of fragile X mutations in differentiated cells indicates early post–conceptional trinucleotide repeat expansion

1993 • 174 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

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

1993 • 170 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

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers

1996 • 162 citations

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome

1995 • 162 citations

Mosaicism in fragile X affected males

1994 • 162 citations

Fragile X checklist

1991 • 161 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

Molecular Predictors of Cognitive Involvement in Female Carriers of Fragile X Syndrome

1994 • 143 citations

Preventive screening for fragile X syndrome.

1986 • 140 citations

Behavioral phenotype of fragile X syndrome: DSM‐III‐R autistic behavior in male children

1992 • 139 citations

FMRP is associated to the ribosomes via RNA

1996 • 138 citations

Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group children

1995 • 135 citations

Alternative splicing in the fragile X gene FMR1

1993 • 135 citations

Contribution of the FMR1 gene mutation to human intellectual dysfunction

1995 • 133 citations

A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

1994 • 132 citations

Fragile X gene instability: anchoring AGGs and linked microsatellites.

1995 • 131 citations

The frequency of the fragile X chromosome among schoolchildren in Coventry.

1986 • 130 citations

Inherited congenital normofunctional testicular hyperplasia and mental deficiency

1976 • 129 citations

Precursor arrays for triplet repeat expansion at the fragile X locus

1994 • 124 citations

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique

1997 • 123 citations

Why are autism and the fragile-X syndrome associated? Conceptual and methodological issues.

1991 • 119 citations

Preventive Screening for the Fragile X Syndrome

1986 • 116 citations

Molecular‐neurobehavioral associations in females with the fragile X full mutation

1994 • 113 citations

Structural organization of the cerebral cortex (motor area) in human chromosomal aberrations. A golgi study. I. D1 (13–15) trisomy, patau syndrome

1974 • 112 citations

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

1991 • 110 citations

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation.

1991 • 109 citations

X-linked mental retardation associated with macro-orchidism.

1975 • 108 citations

Population studies of the fragile X: a molecular approach.

1993 • 106 citations

Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients

1995 • 101 citations

Fragile X syndrome and deletions in FMR1: New case and review of the literature

1997 • 100 citations

FRAGILE X‐LINKED MENTAL RETARDATION: THE MARTIN‐BELL SYNDROME

1981 • 99 citations

Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation

1995 • 95 citations

Prevalence of the fragile‐X syndrome in mentally retarded boys in a Swedish county

1986 • 94 citations

Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype.

1993 • 93 citations

Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: A prospective multicenter analysis

1996 • 93 citations

Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation.

1993 • 93 citations

Alternative splicing in the fragile X gene FMR1

1993 • 92 citations

Neuroanatomy in fragile X females: the posterior fossa.

1991 • 86 citations

The fragile X syndrome II: Preliminary data on growth and development in males

1984 • 85 citations

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family.

1996 • 85 citations

Declining IQs of young males with the fragile X syndrome.

1987 • 85 citations

Characterization of FMR1 proteins isolated from different tissues

1995 • 85 citations

Genotype-phenotype relationships in fragile X syndrome: a family study.

1993 • 84 citations

Frequency and stability of the fragile X premutation

1994 • 80 citations

Association of FMRP with Ribosomal Precursor Particles in the Nucleolus

1996 • 74 citations

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations

1994 • 74 citations

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

1992 • 74 citations

Population screening for fragile X

1992 • 73 citations

Aortic root dilatation and mitral valve prolapse in the fragile X syndrome

1986 • 73 citations

Transition from premutation to full mutation in fragile X syndrome is likely to be prezygotic

1997 • 71 citations

An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.

1995 • 70 citations

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

1993 • 70 citations

Mental Status and Fragile X Expression in Relation to FMR-1 Gene Mutation

1993 • 70 citations

KH domains within the FMR1 sequence suggest that fragile X syndrome stems from a defect in RNA metabolism

1993 • 68 citations

Confirmation of early menopause in fragile X carriers

1996 • 67 citations

Fragile X “gray zone” alleles: AGG patterns, expansion risks, and associated haplotypes

1996 • 66 citations

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern

1997 • 66 citations

An Extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype

1993 • 66 citations

A simplified six item checklist for screening for fragile X syndrome in the pediatric population

1996 • 65 citations

Standards for Selected Anthropometric Measurements in Males With the Fragile X Syndrome

1992 • 65 citations

Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.

1993 • 62 citations

Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population

1996 • 59 citations

Prevalence of the fragile X syndrome in four birth cohorts of children of school age

1987 • 58 citations

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region

1994 • 58 citations

Recurrent Otitis Media in the Fragile X Syndrome

1987 • 56 citations

The fragile X syndrome: no evidence for any recent mutations.

1993 • 56 citations

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR‐1 gene

1994 • 55 citations

A 15‐item checklist for screening mentally retarded males for the fragile X syndrome

1991 • 55 citations

Mosaicism for theFMR1 gene influences adaptive skills development in fragile X-affected males

1996 • 54 citations

A de novo deletion in FMR1 in a patient with developmental delay

1994 • 52 citations

Screening for Fragile X Syndrome: Information Needs for Health Planners

1997 • 51 citations

What is associated with the fragile X syndrome?

1993 • 50 citations

FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male.

1996 • 49 citations

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

1994 • 49 citations

Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR‐1 testing

1994 • 48 citations

Clinical screening score for the fragile X (Martin‐Bell) syndrome

1991 • 47 citations

Anthropometry in Martin‐Bell syndrome

1988 • 47 citations

Mosaicism of a microdeletion of 486 bp involving the CGG repeat of the FMR1 gene due to misalignment of GTT tandem repeats at chi-like elements flanking both breakpoints and a full mutation

1996 • 46 citations

Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes

1986 • 46 citations

Novel point mutation within intron 10 ofFMR-1 gene causing fragile X syndrome

1997 • 44 citations

Prader‐Willi‐like phenotype in fragile X syndrome

1994 • 43 citations

The fragile X phenotype in a mosaic male with a deletion showing expression of theFMR1 protein in 28% of the cells

1996 • 41 citations

A peculiar subphenotype in the fra(X) syndrome: extreme obesity‐short stature‐stubby hands and feet‐diffuse hyperpigmentation. Further evidence of disturbed hypothalamic function in the fra(X) syndrome?

1987 • 41 citations

General overgrowth in the fragile X syndrome: variability in the phenotypic expression of the FMR1 gene mutation

1995 • 41 citations

Fragile X Premutations Are Not a Major Cause of Early Menopause

1997 • 40 citations

Applicability of a checklist for clinical screening of the fragile X syndrome

1997 • 39 citations

Reverse mutations in the fragile X syndrome

1996 • 39 citations

Population Based Prenatal Screening for the Fragile X Syndrome

1994 • 38 citations

Deletion of All CGG Repeats Plus Flanking Sequences in FMR1 Does Not Abolish Gene Expression

1997 • 37 citations

Rapid antibody test for prenatal diagnosis of fragile X syndrome on amniotic fluid cells: a new appraisal.

1997 • 35 citations

Apparent regression of the CGG repeat in FMR1 to an allele of normal size

1994 • 34 citations

DNA testing for fragile X syndrome in schools for learning difficulties.

1995 • 32 citations

Spermatogenesis in two patients with the fragile X syndrome

1987 • 32 citations

Quantitative comparison of FMR1 gene expression in normal and premutation alleles

1995 • 32 citations

Deletion in the FMR1 gene in a fragile-X male

1996 • 30 citations

Prediction of mental status in carriers of the fragile X mutation using CGG repeat length

1994 • 28 citations

Relationship between age and IQ among fragile X males: A multicenter study

1991 • 28 citations

Molecular-Clinical Correlations in Children and Adults With Fragile X Syndrome

1993 • 27 citations

Prenatal diagnosis of the fragile X syndrome: loss of mutation owing to a double recombinant or gene conversion event at the FMR1 locus.

1997 • 26 citations

Unusual (CGG)n expansion and recombination in a family with fragile X and DiGeorge syndrome.

1995 • 24 citations

Does IQ decline with age in fragile‐X? A methodological critique

1994 • 23 citations

Fragile X phenotype in a patient with a large de novo deletion in Xq27‐q28

1994 • 22 citations

The concurrence of Klinefelter syndrome and fragile X syndrome

1988 • 21 citations

Germline mosaicism at the fragile X locus

1995 • 20 citations

Prenatal diagnosis in known fragile X carriers

1994 • 19 citations

Sex chromosome aneuploidy in fragile X carriers

1986 • 19 citations

Fragile X family with unusual digital and facial abnormalities, cleft lip and palate, and epilepsy

1992 • 17 citations

FMR1 triplet arrays: paying the price for perfection

1995 • 16 citations

Macro-orchidism: Light and electron microscopic study of four cases

1992 • 15 citations

Origin of the supernumerary X chromosome in a patient with fragile X and Klinefelter syndrome

1991 • 14 citations

Association of the Robin sequence with the fragile X syndrome

1991 • 12 citations

Asymmetry of methylation with FMR‐1 full mutation in two 45,X/46,XX mosaic females associated with normal intellect

1994 • 12 citations

Counselling risk figures for fragile X carrier females of varying band sizes for use in predicting the likelihood of retardation in their offspring

1994 • 11 citations

Fragile X mutation and FG syndrome-like phenotype

1996 • 7 citations

Intelligence and the fra(X) syndrome: a review.

1991 • 7 citations

Strategy for reliable prenatal detection of normal male carriers of the fragile X syndrome

1994 • 6 citations

Fragile X syndrome in an extended family with special reference to an affected male with Klinefelter Syndrome

1991 • 4 citations

Novel point mutation within intron 10 of FMR1 gene causing fragile X syndrome

1997 • 4 citations

Intelligence and the fra(X) syndrome: a review.

1991 • 4 citations

Study supports screening for the fragile X syndrome

1995 • 4 citations

Fragile X “gray zone” alleles: AGG patterns, expansion risks, and associated haplotypes

1996 • 3 citations

The Fragile X Syndrome: Complex behavior of a simple repeat

1996 • 1 citations