Screening for Fragile X Syndrome: Information Needs for Health Planners

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

Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene

1992 • 1,609 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

Absence of expression of the FMR-1 gene in fragile X syndrome

1991 • 1,456 citations

An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy

1992 • 1,437 citations

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

1994 • 1,122 citations

Fmr1 knockout mice: A model to study fragile X mental retardation

1994 • 1,007 citations

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

1991 • 903 citations

RANDOMISED CONTROLLED TRIAL OF GENETIC AMNIOCENTESIS IN 4606 LOW-RISK WOMEN

1986 • 873 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

Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p

1994 • 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

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

A marker X chromosome.

1969 • 614 citations

Fragile Sites on Human Chromosomes: Demonstration of Their Dependence on the Type of Tissue Culture Medium

1977 • 524 citations

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

1993 • 522 citations

The Safety and Efficacy of Chorionic Villus Sampling for Early Prenatal Diagnosis of Cytogenetic Abnormalities

1989 • 474 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

Triplet repeat mutations in human disease

1992 • 417 citations

The marker (X) syndrome: a cytogenetic and genetic analysis

1984 • 390 citations

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

1993 • 387 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

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

1991 • 357 citations

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

1994 • 357 citations

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

1993 • 343 citations

Simple tandem DNA repeats and human genetic disease.

1995 • 340 citations

Translational Suppression by Trinucleotide Repeat Expansion at FMR1

1995 • 323 citations

Identification of the gene FMR2, associated with FRAXE mental retardation

1996 • 316 citations

Simple repeat DNA is not replicated simply

1994 • 314 citations

EUKARYOTIC DNA REPLICATION

1986 • 298 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

JOURNAL OF MENTAL-DEFICIENCY RESEARCH

1957 • 294 citations

Direct detection of novel expanded trinucleotide repeats in the human genome

1993 • 275 citations

The fragile X syndrome.

1998 • 266 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

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

1991 • 255 citations

Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island

1996 • 254 citations

Genetic screening: ethical issues

1994 • 249 citations

X-linked mental retardation, macro-orchidism, and the Xq27 fragile site

1980 • 247 citations

Specification of the Neurobehavioral Phenotype in Males with Fragile X Syndrome

1995 • 245 citations

The fragile X mental retardation protein is associated with ribosomes

1996 • 243 citations

Fragile Sites on Human Chromosomes

1986 • 242 citations

An analysis of autism in fifty males with the fragile X syndrome

1986 • 235 citations

Association of fragile X syndrome with delayed replication of the FMR1 gene

1993 • 233 citations

Complications of fetal blood sampling

1993 • 231 citations

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

1993 • 226 citations

Autism is associated with the fragile-X syndrome

1982 • 225 citations

FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition.

1981 • 224 citations

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

1994 • 221 citations

Hairpins are formed by the single DNA strands of the fragile X triplet repeats: structure and biological implications.

1995 • 220 citations

Fragile X syndrome without CCG amplification has an FMR1 deletion

1992 • 219 citations

Primordial cell pool size and lineage relationships of five human cell types*

1973 • 210 citations

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

1994 • 202 citations

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

1992 • 201 citations

Medical Research Council European Trial of chorion villus sampling

1991 • 194 citations

Randomised comparison of amniocentesis and transabdominal and transcervical chorionic villus sampling

1992 • 191 citations

Escape from X inactivation in human and mouse

1995 • 187 citations

Evidence of founder chromosomes in fragile X syndrome

1992 • 187 citations

Population incidence and segregation ratios in the Martin‐Bell syndrome

1986 • 186 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

Cognitive profiles associated with the fra(X) syndrome in males and females

1991 • 180 citations

Heritable fragile sites on human chromosomes

1981 • 180 citations

Familial X-linked mental retardation with an X chromosome abnormality.

1977 • 178 citations

Advances in Molecular Analysis of Fragile X Syndrome

1994 • 176 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

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

1994 • 167 citations

The Neurocognitive Phenotype of Female Carriers of Fragile X

1993 • 167 citations

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

1996 • 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

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

1994 • 156 citations

A controlled trial of stimulant medication in children with the fragile X syndrome

1988 • 155 citations

Neurobehavioral effects of the fragile X premutation in adult women: a controlled study.

1993 • 152 citations

Conversational analyses of males with fragile X, Down syndrome, and autism: comparison of the emergence of deviant language.

1990 • 152 citations

Human genes containing polymorphic trinucleotide repeats

1992 • 151 citations

The relationship between paternal age, sex ratios, and aneuploidy frequencies in human sperm, as assessed by multicolor FISH.

1995 • 145 citations

Limb defects and chorionic villus sampling: results from an international registry, 1992-94

1996 • 143 citations

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

1994 • 143 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

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

A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture

1995 • 135 citations

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

1995 • 135 citations

Contribution of the FMR1 gene mutation to human intellectual dysfunction

1995 • 133 citations

Cognitive profiles of boys with the fragile X syndrome

1988 • 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 syndrome unstable element, p(CCG)n, and other simple tandem repeat sequences are binding sites for specific nuclear proteins

1993 • 132 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

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

Precursor arrays for triplet repeat expansion at the fragile X locus

1994 • 124 citations

Mechanisms of DNA expansion

1995 • 123 citations

The psychological profile of the fragile X syndrome

1984 • 122 citations

Heritable unstable DNA sequences

1992 • 120 citations

Medical research council European trial of chorion villus sampling

1992 • 118 citations

Preventive Screening for the Fragile X Syndrome

1986 • 116 citations

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

1992 • 115 citations

Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.

1994 • 114 citations

X-linked mental retardation

1974 • 113 citations

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

1994 • 113 citations

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

1991 • 110 citations

Fragile X Syndrome--Diagnosis, Treatment, and Research

1992 • 110 citations

Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad

1993 • 109 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

Parent‐Child Dyadic Gaze Patterns in Fragile X Males and in Non‐fragile X Males with Autistic Disorder

1989 • 109 citations

The Trajectory of Cognitive Development in Males with Fragile X Syndrome

1989 • 108 citations

The Fragile-X Syndrome

1992 • 107 citations

Population studies of the fragile X: a molecular approach.

1993 • 106 citations

Molecular heterogeneity of the fragile X syndrome

1991 • 105 citations

Incomplete X chromosome dosage compensation in chorionic villi of human placenta.

1985 • 103 citations

Haplotype and interspersion analysis of the FMR1 CGG repeat identifies two different mutational pathways for the origin of the fragile X syndrome

1996 • 102 citations

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

1995 • 101 citations

Autism and the Fragile X Syndrome

1983 • 101 citations

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

1992 • 100 citations

Maximum-likelihood analysis of human T-cell X chromosome inactivation patterns: normal women versus carriers of X-linked severe combined immunodeficiency.

1992 • 99 citations

Fragile X syndrome and the (CGG)n mutation: two families with discordant MZ twins.

1994 • 97 citations

FRAXE and mental retardation.

1995 • 96 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

XLMRgenes: Update 1996

1996 • 94 citations

Excess thymidine induces folate sensitve fragile sites

1985 • 93 citations

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

1993 • 93 citations

Infantile autism associated with the Fragile-X syndrome

1982 • 93 citations

Longitudinal IQ changes in fragile X males

1989 • 92 citations

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

1994 • 91 citations

Characterization of a highly polymorphic dinucleotide repeat 150 KB proximal to the fragile X site

1992 • 89 citations

Detection of full fragile X mutation

1992 • 89 citations

Fragile site X chromosomes and X‐linked mental retardation in severely retarded boys in a northern Swedish county. A prevalence study

1982 • 89 citations

Fragile X syndrome is less common than previously estimated.

1997 • 87 citations

Fragile X syndrome in mildly mentally retarded children in a Northern Swedish county. A prevalence study

1983 • 87 citations

Adult fragile X syndrome: Neuropsychology, brain anatomy, and metabolism

1995 • 85 citations

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

1984 • 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

Learning Disabilities and Attentional Problems in Boys With the Fragile X Syndrome

1985 • 83 citations

Expression in lymphocyte and fibroblast culture of the fragile X chromosome: A new technical approach

1981 • 83 citations

Fragile X syndrome

1987 • 82 citations

Syntactic delay and pragmatic deviance in the language of fragile X males

1991 • 82 citations

Is autism associated with the fragile X syndrome?

1992 • 81 citations

Frequency and stability of the fragile X premutation

1994 • 80 citations

Developmental and behavioural disturbances in 13 boys with fragile X syndrome

1985 • 80 citations

The greeting behavior of fragile X males.

1989 • 79 citations

Reporting the assessment of screening and diagnostic tests

1989 • 79 citations

Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

1994 • 79 citations

Significance of phenotypic and chromosomal abnormalities in X‐linked mental retardation (Martin‐Bell or Renpenning syndrome)

1980 • 78 citations

Screening for fra(X)(q) in a population of mentally retarded males

1983 • 77 citations

Emotional and neurocognitive deficits in fragile X

1994 • 76 citations

Orthopaedic aspects of fragile-X syndrome.

1990 • 75 citations

Symptoms of Schizotypal Personality Disorder in Fragile X Women

1994 • 75 citations

Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions

1995 • 74 citations

X-linked mental retardation with the fragile X. A study of 15 families

1981 • 74 citations

Population screening for fragile X

1992 • 73 citations

Hereditary unstable DNA: a new explanation for some old genetic questions?

1991 • 73 citations

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

1986 • 73 citations

Transmitting males and carrier females in fragile X–revisited

1994 • 72 citations

A profile of cognitive deficit in females from fragile x families

1986 • 72 citations

Ante-natal screening: What constitutes ‘benefit’?

1993 • 71 citations

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

1993 • 70 citations

The fragile X premutation in carriers and its effect on mutation size in offspring.

1995 • 70 citations

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

1993 • 70 citations

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

1995 • 70 citations

FMR1 in global populations.

1996 • 69 citations

A complex mutable polymorphism located within the fragile X gene

1993 • 69 citations

Appraisal of a new scheme for prenatal screening for Down's syndrome.

1991 • 69 citations

Down syndrome

1990 • 68 citations

Polymerase chain reaction analysis of fragile X mutations

1992 • 68 citations

On some technical aspects of direct DNA diagnosis of the fragile X syndrome

1992 • 67 citations

Autism is not associated with the Fragile X syndrome

1989 • 66 citations

A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology.

1985 • 65 citations

Prenatal diagnosis and carrier screening for fragile X by PCR

1996 • 64 citations

An anthropometric study of males with the Fragile‐X syndrome

1984 • 64 citations

Eukaryotic DNA replication

1990 • 64 citations

Chromosome Fragility and Psychopathology in Obligate Female Carriers of the Fragile X Chromosome

1992 • 64 citations

Genotype mosaicism in fragile X fetal tissues

1992 • 63 citations

Cost effectiveness of antenatal screening for cystic fibrosis

1995 • 62 citations

Screening for fragile X syndrome.

1997 • 61 citations

A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males

1996 • 61 citations

Reduced Cyclic AMP Production in Fragile X Syndrome: Cytogenetic and Molecular Correlations

1995 • 61 citations

A Study of the Physical, Behavioral, and Medical Phenotype, Including Anthropometric Measures, of Females With Fragile X Syndrome

1993 • 60 citations

Striking Founder Effect for the Fragile X Syndrome in Finland

1993 • 60 citations

Heritable fragile sites on human chromosomes XII. Population Cytogenetics

1985 • 59 citations

A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci.

1995 • 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

Segregation of the fragile X mutation from an affected male to his normal daughter

1992 • 58 citations

Intelligence and the X chromosome

1996 • 58 citations

Cognitive functioning and information processing of adult mentally retarded men with fragile‐X syndrome

1994 • 57 citations

Data on the CGG repeat at the fragile X site in the non-retarded Japanese population and family suggest the presence of a subgroup of normal alleles predisposing to mutate

1993 • 57 citations

Neurobehavioral characteristics of CGG amplification status in fragile X females

1994 • 57 citations

Expressive semantic deficit in the productive language of males with fragile X syndrome

1992 • 56 citations

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

1993 • 56 citations

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

1991 • 56 citations

Evolution of the cryptic FMR1 CGG repeat

1995 • 55 citations

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

1991 • 55 citations

Cardiac abnormalities in the fragile X syndrome.

1989 • 55 citations

Established markers in second trimester maternal serum

1996 • 55 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

Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity

1996 • 55 citations

Fragile X Syndrome: Recognition in Young Children

1989 • 54 citations

Do young boys with fragile X syndrome have macroorchidism?

1994 • 54 citations

Origins of the fragile X syndrome mutation.

1993 • 54 citations

Autistic features, personality, and adaptive behavior in males with the fragile X syndrome and no autism.

1994 • 53 citations

Report of the committee on cytogenetic markers

1989 • 53 citations

The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X

1990 • 53 citations

DIAGNOSIS OF THE FRAGILE X SYNDROME (MARTIN‐BELL SYNDROME). CLINICAL FINDINGS IN 27 MALES WITH THE FRAGILE SITE AT Xq28

1983 • 52 citations

Neurological findings in patients with the fragile-X syndrome.

1985 • 52 citations

Questions of expansion

1993 • 51 citations

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

1995 • 51 citations

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

1994 • 50 citations

X inactivation of the FMR1 fragile X mental retardation gene.

1995 • 50 citations

What is associated with the fragile X syndrome?

1993 • 50 citations

Growth in stature in fragile X families: A mixed longitudinal study

1995 • 49 citations

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

1994 • 49 citations

Macroorchidism and fragile X in mentally retarded males

1982 • 49 citations

Frequency of FMR1 Premutations in a Consecutive Newborn Population by PCR Screening of Guthrie Blood Spots

1995 • 49 citations

Experience with prenatal fragile X detection

1984 • 48 citations

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

1994 • 48 citations

Marker X‐associated mental retardation A study of 150 retarded males

1983 • 47 citations

Transmission of fragile (X)(q27) from normal male(s)

1982 • 47 citations

Policy Statement: American college of medical genetics. Fragile X Syndrome: Diagnostic and carrier testing

1994 • 47 citations

Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene.

1996 • 47 citations

Behavioural and emotional disturbance in fragile X syndrome

1994 • 47 citations

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

1991 • 47 citations

Anthropometry in Martin‐Bell syndrome

1988 • 47 citations

Experience with direct molecular diagnosis of fragile X.

1992 • 46 citations

Demonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome

1993 • 45 citations

Nuffield Council on Bioethics: Genetic Screening Ethical Issues

1994 • 45 citations

Molecular fragile X screening in normal populations

1996 • 45 citations

Fragile X founder effect?

1992 • 45 citations

Founder effect in a Belgian-Dutch fragile X population

1993 • 44 citations

Behavior problems of young girls with fragile X syndrome: Factor scores on the Conners' parent's questionnaire

1994 • 43 citations

Population genetics of fragile X: A multiple allele model with variable risk of CGG repeat expansion

1994 • 42 citations

Genotype prediction in the fragile X syndrome.

1991 • 41 citations

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

1995 • 41 citations

Do Young Boys With Fragile χ Syndrome Have Macroorchidism?

1994 • 41 citations

Problem solving limitations among cytogenetically expressing fragile X women

1992 • 41 citations

Frequency of the fragile X syndrome in Japanese mentally retarded males

1986 • 41 citations

Fragile X founder effects and new mutations in Finland

1996 • 40 citations

Screening developmentally disabled male populations for fragile X: The effect of sample size

1988 • 40 citations

Folic acid therapy in the fragile X syndrome

1984 • 40 citations

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

1994 • 39 citations

Population Based Prenatal Screening for the Fragile X Syndrome

1994 • 38 citations

Genetic variation and evolutionary stability of the FMR1 CGG repeat in six closed human populations

1996 • 38 citations

Haplotype analysis at the FRAXA locus in the Japanese population

1994 • 38 citations

DNA methylation of the fragile X locus in somatic and germ cells during fetal development: Relevance to the fragile X syndrome and X inactivation

1993 • 37 citations

Randomized trial comparing first‐trimester transcervical chorionic villus sampling and second‐trimester amniocentesis

1993 • 37 citations

Intelligence and the X chromosome

1996 • 37 citations

FOLIC ACID AS AN ADJUNCT IN THE TREATMENT OF CHILDREN WITH THE AUTISM FRAGILE‐X SYNDROME (AFRAX)

1986 • 37 citations

Replication status of the fragile X chromosome, fra(X)(q27), in three heterozygous females

1982 • 36 citations

Anthropometric comparison of mentally retarded males with and without the fragile X syndrome

1991 • 36 citations

Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome.

1995 • 36 citations

Cognitive profiles of the carrier fragile X woman

1991 • 35 citations

Inactivation pattern of the fragile X in heterozygous carriers

1984 • 35 citations

Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males

1995 • 35 citations

Methylation and mutation patterns in the fragile X syndrome

1992 • 34 citations

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

1994 • 34 citations

Fragile X screening program in New York State

1991 • 34 citations

An n-allele model for progressive amplification in the FMR1 locus.

1995 • 34 citations

Management for Doctors: Decision analysis for medical managers

1995 • 33 citations

Implementation of an Antenatal Serum Screening Programme for Down's Syndrome in Two Districts (Brighton and Eastbourne)

1994 • 33 citations

The fragile X syndrome in Finland: demonstration of a founder effect by analysis of microsatellite haplotypes

1994 • 33 citations

Folic acid treatment of fragile X males: A further study

1988 • 33 citations

Survey of the efficacy of clonidine in fragile X syndrome

1995 • 32 citations

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

1995 • 32 citations

The fragile X syndrome I: Familial variation in the proportion of lymphocytes with the fragile site in males

1984 • 32 citations

Is it possible to make a clinical diagnosis of the fragile X syndrome in a boy?

1985 • 32 citations

Comparison between the cytogenetic test for fragile X and the molecular analysis of the FMR‐1 gene in Japanese mentally retarded individuals

1994 • 31 citations

High dose folic acid treatment of fragile (X) males

1986 • 31 citations

Hyperactivity and the Fragile X Syndrome

1991 • 31 citations

Conservation of CGG region in FMR1 gene in mammals

1994 • 31 citations

Prevalence of a novel epileptogenic EEG pattern in the Martin‐Bell syndrome

1988 • 31 citations

Unstable Triplet Repeat Diseases

1995 • 30 citations

Delayed replication of Xq27 in individuals with the fragile X syndrome

1992 • 30 citations

Dissemination of genetic risk information to relatives in the fragile X syndrome: Guidelines for genetic counselors

1995 • 29 citations

Cytogenetic versus DNA diagnosis in routine referrais for fragile X syndrome

1993 • 29 citations

Clinico-neurological investigations in the fra(X) form of mental retardation

1989 • 29 citations

X chromosome inactivation and X-linked mental retardation

1996 • 29 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

Unstable triplets and their mutational mechanism: Size reduction of the CGG repeat vs. germline mosaicism in the fragile X syndrome

1994 • 28 citations

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families

1994 • 27 citations

Prevalence of the Fragile X Syndrome in an Institution for the Mentally Handicapped

1986 • 27 citations

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

1993 • 27 citations

Optometric Findings in the Fragile X Syndrome

1991 • 27 citations

Effect of folic acid treatment in the fragile X syndrome

1985 • 27 citations

The fragile X syndromes

1995 • 26 citations

Population genetic consequences of the fragile-X syndrome, based on the X-inactivation imprinting model.

1990 • 26 citations

Programmed demethylation in CpG islands during human fetal development

1991 • 26 citations

Strong Founder Effect for the Fragile X Syndrome in Sweden

1994 • 25 citations

Antenatal screening for cystic fibrosis

1996 • 25 citations

X-chromosome methylation ratios as indicators of chromosomal activity: Evidence of intraindividual divergencies among tissues of different embryonal origin

1996 • 25 citations

Studies of the fragile (X) syndrome in populations of mentally retarded individuals in Hawaii

1986 • 25 citations

Prenatal detection of a fetus hemizygous for the fragile X-chromosome

1982 • 25 citations

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

1995 • 24 citations

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

1992 • 24 citations

Prenatal diagnosis of fragile x syndrome: (cgg)_n expansion and methylation of chorionic villus samples

1995 • 24 citations

Chromosome abnormalities in pupils attending ESN/M schools.

1986 • 24 citations

Institutional Screening for the Fragile X Syndrome

1988 • 24 citations

Diagnostic molecular genetics of the fragile X

1990 • 24 citations

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

1994 • 23 citations

Double‐blind, placebo‐controlled crossover study of folinic acid (Leucovorin®) for the treatment of fragile X syndrome

1992 • 23 citations

Dimensions of shyness in fragile X females

1995 • 23 citations

Evidence for high-risk haplotypes and (CGG)n expansion in fragile X syndrome in the Hellenic population of Greece and Cyprus

1996 • 22 citations

Mortality in the fragile X syndrome: Preliminary data

1992 • 22 citations

Direct DNA analysis of fragile X syndrome in Spanish pedigrees

1992 • 21 citations

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

1992 • 21 citations

RS46(DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome

1995 • 21 citations

Adaptive behavior in the fragile X syndrome: Profile and development

1993 • 21 citations

The fragile(X) syndrome: The mutation problem

1986 • 20 citations

Germline mosaicism at the fragile X locus

1995 • 20 citations

A recombination–based assay demonstrates that the fragile X sequence is transcribed widely during development

1993 • 19 citations

Fragile X syndrome: Incidence, clinical and cytogenetic findings in the black and white populations of South Carolina

1988 • 19 citations

Clinical and cytogenetic survey of institutionalized mentally retarded patients with emphasis on the fragile‐X syndrome

1993 • 19 citations

Carrier screening for cystic fibrosis

1994 • 19 citations

Prenatal diagnosis in known fragile X carriers

1994 • 19 citations

Prenatal diagnosis of fragile X syndrome by placental (chorionic villi) biopsy culture

1988 • 19 citations

Population genetics implications of the premutation hypothesis for the generation of the fragile X mental retardation gene

1987 • 18 citations

Carirer diagnosis of the fragile X syndrome—A challenge in antenatal clinics

1995 • 18 citations

Verbal learning and memory among heterozygous fragile X females

1992 • 18 citations

Direct mutation analysis of 495 patients for fragile X carrier status/proband diagnosis

1994 • 18 citations

Cognitive profile in adult, normal intelligent female fragile X carriers

1992 • 18 citations

Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families

1993 • 18 citations

Diagnosis of fragile X syndrome by direct mutation analysis

1994 • 17 citations

Ocular findings in fragile X syndrome

1995 • 17 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

Recurrent and unexpected segregation of the FMR1 CGG repeat in a family with fragile X syndrome

1996 • 17 citations

Prevalence of fra(X) in the county of Funen in Denmark is lower than expected

1994 • 17 citations

Direct molecular analysis of the fragile X syndrome in a sample of Egyptian and German patients using non-radioactive PCR and Southern blot followed by chemiluminescent detection

1995 • 17 citations

Preimplantation genetic diagnosis

1994 • 16 citations

FMR1 triplet arrays: paying the price for perfection

1995 • 16 citations

The fragile X in sicily: An epidemiological survey

1988 • 16 citations

A reinvestigation of thirty three fragile(X) families using probe StB12.3

1992 • 16 citations

Intragenic probe used for diagnostics in fragile X families

1992 • 16 citations

Fragile X expression increased by low cell‐culture density

1986 • 16 citations

Survey of adolescents with severe intellectual handicap.

1990 • 15 citations

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

1992 • 15 citations

Apparently enhanced visual information processing in female fragile X carriers: Preliminary findings

1994 • 15 citations

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome

1994 • 15 citations

Effect of fragile X on physical and intellectual traits estimated by pedigree analysis

1993 • 15 citations

Relationship of expansion of CGG repeats and X‐inactivation with expression of fra(X) (q27.3) in heterozygotes

1994 • 14 citations

Informed choice in fragile X syndrome and its effects on prevalence

1996 • 14 citations

Reliability of diagnostic assessment of normal and premutation status in the fragile X syndrome using DNA testing

1994 • 14 citations

Fragile X syndrome.

1995 • 14 citations

Ophthalmologic Findings in the Fragile X Syndrome

1987 • 14 citations

WHERE HAVE ALL THE FRAGILE X BOYS GONE?

1993 • 13 citations

Dermatoglyphic indices of males with the fragile X syndrome and of the female heterozygotes

1986 • 13 citations

Instability of the CGG repeat at the FRAXA locus and variable phenotypic expression in a large fragile X pedigree.

1995 • 13 citations

Cognitive and molecular aspects of fragile X

1995 • 13 citations

Cytogenetic investigations in mentally retarded and normal males from 14 families with the fragile site at Xq28

1984 • 13 citations

Fraxa locus in fragile X diagnosis: Family studies, prenatal diagnosis, and diagnosis of sporadic cases of mental retardation

1994 • 13 citations

Genetic control over fragile X chromosome expression

1986 • 13 citations

Frequency of Fra X syndrome among institutionalized mentally retarded males in Poland

1996 • 13 citations

The expression of fragile X chromosomes in members of the same family at different times of examination

1982 • 13 citations

Cocultivation studies with cells of patients bearing fragile X chromosomes

1982 • 13 citations

Characteristics of the transmission of the FMR1 gene from carrier females in a prospective sample of conceptuses

1994 • 13 citations

Personality profile in adult female fragile X carriers: Assessed with the Minnesota Multiphasic Personality Profile (MMPI)

1994 • 13 citations

New York State screening program for fragile X syndrome: A progress report

1992 • 13 citations

Missed prenatal diagnosis of fragile-X syndrome

1989 • 13 citations

Fragile X families in a Northern Swedish county ‐ a genealogical study demonstrating apparent paternal transmission from the 18th century

1988 • 12 citations

Transition from Normal to Premutated Alleles in Fragile X Syndrome Results from a Multistep Process

1994 • 12 citations

Fragile (X) expression induced by FUdR is transient and inversely related to levels of thymidylate synthase activity.

1985 • 12 citations

Genetic and other factors that contribute to variability in cytogenetic expression in fragile X males

1991 • 12 citations

Fragile X syndrome: What is the impact of diagnosis on families?

1995 • 12 citations

Fragile‐X syndrome in North East Essex: towards systematic screening: clinical selection

1994 • 12 citations

Fragile X screening program in a spanish region

1992 • 11 citations

Between-generation differences in ascertainment and penetrance: relevance to genetic hypotheses in fragile X

1993 • 11 citations

The CpG island of the FMR-1 gene is methylated differently among embryonic tissues: implication for prenatal diagnosis

1994 • 11 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

The costs of instability

1992 • 11 citations

Mode of inheritance influences behavioral expression and molecular control of cognitive deficits in female carriers of the fragile X syndrome

1992 • 11 citations

Parental origin of the Fra(X) gene is a major determinant of the cytogenetic expression and the CGG repeat length in female carriers

1992 • 11 citations

The effect of methionine and 5-azacytidine on fragile X expression.

1985 • 11 citations

Perspectives and Molecular Diagnosis of the Fragile X Syndrome

1995 • 10 citations

Frequency of fragile X chromosomes, fra(X), in lymphocytes in relation to blood storage time and culture techniques

1983 • 10 citations

IQ and variation in the number of fragile X CGG repeats: No association in a normal sample

1994 • 10 citations

Awareness and knowledge of fragile X syndrome among special educators.

1993 • 10 citations

Comparison of expression of the fragile site at Xq27 in T and B lymphocytes

1984 • 10 citations

Characteristics of fragile X relatives with different attitudes toward terminating an affected pregnancy.

1992 • 9 citations

The human genome project and clinical medicine.

1992 • 9 citations

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

1992 • 8 citations

Fragile‐X syndrome in east Finland: Molecular approach to genetic and prenatal diagnosis

1994 • 8 citations

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

1993 • 8 citations

Modeling methylation and IQ scores in fragile X females and mosaic males

1994 • 8 citations

Prenatally detected fragile X females: Long‐term follow‐up studies show high risk of mental impairment

1992 • 8 citations

A deletion of 1.6 Kb proximal to the CGG repeat of the FMR1 gene causes fragile X-like psychological features.

1994 • 8 citations

Penetrance of Fra(X) gene: Influence of grandparental origin of the gene, mental status of the carrier mother, and presence of a normal transmitting male

1992 • 8 citations

A comparison of fragile X expression in lymphocyte and lymphoblastoid cultures.

1986 • 8 citations

Fragile X syndrome: Discordant levels of CGG repeat mosaicism in two brothers

1995 • 8 citations

Using the polymerase chain reaction to maintain DNA probe inventories in clinical and diagnostic laboratories

1991 • 7 citations

A statewide public and professional education program on fragile X syndrome.

1992 • 7 citations

Prenatal Diagnosis of the Fragile-X Syndrome

1991 • 6 citations

Pediatric Ophthalmology

1995 • 6 citations

Molecular Diagnosis of Fragile X Syndrome

1995 • 6 citations

The impact of genetic counselling on females in fragile X families.

1994 • 6 citations

A fragile X family with high penetrance in females: risk heterogeneity?

1992 • 6 citations

Genetic counseling issues

1997 • 6 citations

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

1994 • 6 citations

Recent experience in prenatal diagnosis of fragile X

1992 • 6 citations

Notes on the population genetics of fragile X syndrome

1992 • 5 citations

Genetics of Common Diseases

2020 • 5 citations

Molecular pathology of the fragile X syndrome.

1993 • 5 citations

Cytogenetic diagnosis of the fragile X syndrome: Efficiency, utilization, and trends

1991 • 5 citations

A fragile case for screening?

1993 • 5 citations

Role of DNA methylation in X inactivation and the fragile X syndrome

1993 • 5 citations

Cognitive deficits associated with fragile X syndrome.

1993 • 4 citations

Molecular genetic analysis of mentally retarded males with features of the fragile‐X syndrome

1995 • 4 citations

Fra(X)(q27.2), the common fragile site, observed in only one of 760 cases studied for the fragile X syndrome

1992 • 4 citations

Study supports screening for the fragile X syndrome

1995 • 4 citations

Use of a molecular genetic approach to diagnosing the fragile X genotype

1992 • 4 citations

Difficult diagnosis of the fragile X syndrome made possible by direct detection of DNA mutations.

1992 • 4 citations

Heritable trinucleotide repeats and neurological disorders

1994 • 4 citations

The fragile X syndrome: recent developments

1992 • 4 citations

The fragile X syndrome--clinical overview.

1991 • 4 citations

Molecular analysis of 53 fragile X families with the probe StB12.3

1994 • 4 citations

Prenatal cytogenetic diagnosis of the fragile X chromosome: Feasibility and speed of in situ clonal method in amniotic fluid cell tissue culture

1992 • 3 citations

Prenatal cytogenetic diagnosis of the fragile X syndrome in amniotic fluid: Calculation of accuracy

1992 • 3 citations

Prenatal diagnosis of fragile X syndrome: Management of the male fetus with a premutation

1994 • 3 citations

Prenatal diagnosis of 30 fetuses at risk for fragile X syndrome

1996 • 3 citations

Factors which contribute to cytogenetic frequency of expression in families of fragile X females

1992 • 3 citations

Prenatal diagnosis of fragile X syndrome: Results from parallel molecular and cytogenetic studies

1992 • 3 citations

Fragile X mental retardation syndrome: DNA diagnosis and carrier detection in New Zealand families.

1995 • 2 citations

Pediatric management problems. Fragile X syndrome.

1993 • 2 citations

Fragile X induction systems in CVS cultures: Effect on cytogenetic, PCR, and genomic southern blot DNA analyses of the FMR‐1 gene

1994 • 2 citations

Identification of cytogenetic abnormalities as a consequence of FMR-1 testing in schools

1995 • 2 citations

Fragile X Syndrome

1994 • 2 citations

The psychiatric, psychological and behavioural functioning of a British sample of boys with fragile X syndrome.

1995 • 2 citations

The fragile-X syndrome after the discovery of the FMR-1 gene. The clinical geneticist faced with the unravelled enigmas and persisting difficulties in genetic counseling.

1992 • 1 citations

The incidence of the fragile X syndrome in Japanese commentary on Nanba's paper

1995 • 1 citations

Commentary to the paper entitled ‘Non-radioactive DNA diagnosis for the fragile X syndrome in Japanese mentally retarded males’ by Nanba et al.

1995 • 1 citations

Medical genetics: advances in brief: Specification of the neurobehavioural phenotype in males with fragile X syndrome

1995 • 1 citations

Deleted Work

1955 • 0 citations