(Q41167683)

27 September 2017

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title

Fragile X syndrome in humans and mice (English)

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27 September 2017

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Oostra BA

1

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27 September 2017

language of work or name

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1 January 1996

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Acta geneticae medicae et gemellologiae

27 September 2017

published in

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27 September 2017

volume

45

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27 September 2017

issue

1-2

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27 September 2017

page(s)

93-108

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

27 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Myotonic dystrophy mutation: an unstable CTG repeat in the 3' untranslated region of the gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

FMR1 protein: conserved RNP family domains and selective RNA binding

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Fragile X syndrome without CCG amplification has an FMR1 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Enhanced Fmr-1 expression in testis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Alternative splicing in the fragile X gene FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

DNA methylation represses FMR-1 transcription in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Fragile X genotype characterized by an unstable region of DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Mutations of two PMS homologues in hereditary nonpolyposis colon cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Fine structure of the human FMR1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Limited size of the fragile X site shown by fluorescence in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Length of uninterrupted CGG repeats determines instability in the FMR1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Dynamic mutations: a new class of mutations causing human disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Neurodevelopmental effects of the FMR-1 full mutation in humans.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Neuroanatomy of fragile X syndrome: the posterior fossa

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Neuroanatomy of fragile X syndrome: the temporal lobe

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Population incidence and segregation ratios in the Martin-Bell syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Origins of the fragile X syndrome mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

Founder effect in a Belgian-Dutch fragile X population

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

7 January 2021

Simple repeat DNA is not replicated simply

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

7 January 2021

Evidence of founder chromosomes in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

7 January 2021

Intragenic probe used for diagnostics in fragile X families

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

7 January 2021

Striking founder effect for the fragile X syndrome in Finland.

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

7 January 2021

Precursor arrays for triplet repeat expansion at the fragile X locus

1 reference

https://api.crossref.org/works/10.1017%2FS0001566000001173

7 January 2021

10.1017/S0001566000001173

Identifiers

DOI

1 reference

27 September 2017

1 reference