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Molecular and cellular genetics of fragile X syndrome
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
10050961
retrieved
27 July 2017
review article
1 reference
stated in
Europe PubMed Central
title
Molecular and cellular genetics of fragile X syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
10050961
retrieved
27 July 2017
main subject
fragile X syndrome
1 reference
based on heuristic
inferred from title
author name string
Kaufmann WE
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
10050961
retrieved
27 July 2017
Reiss AL
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed ID
10050961
retrieved
27 July 2017
publication date
1 February 1999
1 reference
stated in
Europe PubMed Central
PubMed ID
10050961
retrieved
27 July 2017
published in
American Journal of Medical Genetics Part A
1 reference
stated in
Europe PubMed Central
PubMed ID
10050961
retrieved
27 July 2017
volume
88
1 reference
stated in
Europe PubMed Central
PubMed ID
10050961
retrieved
27 July 2017
issue
1
1 reference
stated in
Europe PubMed Central
PubMed ID
10050961
retrieved
27 July 2017
page(s)
11-24
1 reference
stated in
Europe PubMed Central
PubMed ID
10050961
retrieved
27 July 2017
cites work
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Molecular-neurobehavioral associations in females with the fragile X full mutation.
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21 January 2018
FMR1 protein: conserved RNP family domains and selective RNA binding
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Cerebral gigantism (Sotos syndrome) in two patients with fra(X) chromosomes.
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Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome
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Demonstration of abnormal cyclic AMP production in platelets from patients with fragile X syndrome.
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The essentials of DNA methylation
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Autism is associated with the fragile-X syndrome.
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Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.
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Abnormal dendritic spines in fragile X knockout mice: maturation and pruning deficits
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Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features
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21 January 2018
A point mutation in the FMR-1 gene associated with fragile X mental retardation
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21 January 2018
Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients
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21 January 2018
The Prader-Willi-like phenotype in fragile X patients: a designation facilitating clinical (and molecular) differential diagnosis
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21 January 2018
The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation
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Fine structure of the human FMR1 gene
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21 January 2018
Quantitative comparison of FMR1 gene expression in normal and premutation alleles
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Translational suppression by trinucleotide repeat expansion at FMR1.
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21 January 2018
Is autism associated with the fragile X syndrome?
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What is associated with the fragile X syndrome?
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21 January 2018
Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox
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Fragile X syndrome without CCG amplification has an FMR1 deletion
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Prevalence of the fragile-X syndrome in mentally retarded boys in a Swedish county.
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21 January 2018
High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression
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21 January 2018
Methylation analysis of CGG sites in the CpG island of the human FMR1 gene
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21 January 2018
A recombination-based assay demonstrates that the fragile X sequence is transcribed widely during development
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21 January 2018
Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation
1 reference
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21 January 2018
Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice.
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21 January 2018
Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome.
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21 January 2018
Analysis of neocortex in three males with the fragile X syndrome
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21 January 2018
Linear order of new and established DNA markers around the fragile site at Xq27.3.
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21 January 2018
Two new cases of FMR1 deletion associated with mental impairment.
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21 January 2018
High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome
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21 January 2018
In vitro DNA methylation inhibits FMR-1 promoter.
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21 January 2018
The fragile X mental retardation protein is associated with ribosomes
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21 January 2018
Transgenic mouse model for the fragile X syndrome.
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21 January 2018
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
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21 January 2018
Arc, a growth factor and activity-regulated gene, encodes a novel cytoskeleton-associated protein that is enriched in neuronal dendrites
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21 January 2018
A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.
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21 January 2018
Problem solving limitations among cytogenetically expressing fragile X women.
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21 January 2018
A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome
1 reference
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Crossref
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21 January 2018
Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus
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21 January 2018
Trinucleotide repeat instability: when and where?
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21 January 2018
The fragile X in Sicily: an epidemiological survey.
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21 January 2018
Mosaicism in fragile X affected males.
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21 January 2018
Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
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21 January 2018
Complex behavior of simple repeats: the fragile X syndrome
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21 January 2018
New polymorphic DNA marker close to the fragile site FRAXA.
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21 January 2018
Conference report: International Workshop on the fragile X and X-linked mental retardation.
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21 January 2018
Localization of loci for hypoxanthine phosphoribosyltransferase and glucose-6-phosphate dehydrogenase and biochemical evidence of nonrandom X chromosome expression from studies of a human X-autosome translocation
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21 January 2018
A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation
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21 January 2018
Absence of expression of the FMR-1 gene in fragile X syndrome
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21 January 2018
Fragile X syndrome, DSM-III-R, and autism.
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21 January 2018
Psychiatric disability in female carriers of the fragile X chromosome.
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21 January 2018
Neuroanatomy of fragile X syndrome: the posterior fossa
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21 January 2018
Neuroanatomy of fragile X syndrome: the temporal lobe
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21 January 2018
Neurodevelopmental effects of the FMR-1 full mutation in humans.
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21 January 2018
Contribution of the FMR1 gene mutation to human intellectual dysfunction.
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21 January 2018
The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.
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Crossref
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21 January 2018
When more is less: pathogenesis of glutamine repeat neurodegenerative diseases
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21 January 2018
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
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21 January 2018
Adult fragile X syndrome. Clinico-neuropathologic findings.
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21 January 2018
Adult fragile X syndrome: neuropsychology, brain anatomy, and metabolism.
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21 January 2018
The marker (X) syndrome: a cytogenetic and genetic analysis.
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21 January 2018
Further segregation analysis of the fragile X syndrome with special reference to transmitting males
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21 January 2018
The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein
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21 January 2018
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
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21 January 2018
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
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21 January 2018
The fragile X syndrome: no evidence for any recent mutations
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21 January 2018
Symptoms of schizotypal personality disorder in fragile X women.
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21 January 2018
Targeting of mRNAs to subsynaptic microdomains in dendrites.
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21 January 2018
DNA methylation represses FMR-1 transcription in fragile X syndrome
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21 January 2018
Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium
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21 January 2018
Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence
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21 January 2018
Characterization and localization of the FMR-1 gene product associated with fragile X syndrome
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21 January 2018
Characterization of FMR1 proteins isolated from different tissues
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21 January 2018
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
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21 January 2018
Alternative splicing in the fragile X gene FMR1.
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21 January 2018
Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis
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21 January 2018
Triplet repeat expansion mutations: the example of fragile X syndrome
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21 January 2018
Advances in molecular analysis of fragile X syndrome
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21 January 2018
The fragile X site in somatic cell hybrids: an approach for molecular cloning of fragile sites.
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21 January 2018
Strategy for molecular cloning of the fragile X site DNA.
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21 January 2018
Isolation of the human chromosomal band Xq28 within somatic cell hybrids by fragile X site breakage
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21 January 2018
Population incidence and segregation ratios in the Martin-Bell syndrome.
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21 January 2018
Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation
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21 January 2018
Rapid antibody test for fragile X syndrome.
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21 January 2018
Fragile X syndrome: associated neurological abnormalities and developmental disabilities.
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21 January 2018
Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.
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21 January 2018
Continuous culture of neuronal cells from adult human olfactory epithelium.
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21 January 2018
A.E. Bennett Research Award 1993. Olfactory neuroblasts from Alzheimer donors: studies on APP processing and cell regulation.
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21 January 2018
Fragile X genotype characterized by an unstable region of DNA.
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21 January 2018
Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development
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21 January 2018
Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island
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21 January 2018
A heterogeneous set of FMR1 proteins is widely distributed in mouse tissues and is modulated in cell culture
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21 January 2018
Identifiers
DOI
10.1002/(SICI)1096-8628(19990205)88:1<11::AID-AJMG3>3.0.CO;2-O
1 reference
stated in
Europe PubMed Central
PubMed ID
10050961
retrieved
27 July 2017
PubMed ID
10050961
1 reference
stated in
Europe PubMed Central
PubMed ID
10050961
retrieved
27 July 2017
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