(Q40754963)

23 September 2017

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title

The fragile X syndrome: implications of molecular genetics for the clinical syndrome (English)

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23 September 2017

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1 reference

Rousseau F

1

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23 September 2017

publication date

1 January 1994

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European Journal of Clinical Investigation

23 September 2017

published in

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23 September 2017

volume

24

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23 September 2017

issue

1

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23 September 2017

page(s)

1-10

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https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

23 September 2017

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Fragile X and autism: a multicenter survey.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Is autism associated with the fragile X syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Close linkage of fragile X-mental retardation syndrome to haemophilia B and transmission through a normal male

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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/10.1111%2FJ.1365-2362.1994.TB02052.X

Fragile X genotype characterized by an unstable region of DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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/10.1111%2FJ.1365-2362.1994.TB02052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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/10.1111%2FJ.1365-2362.1994.TB02052.X

A premutation that generates a defect at crossing over explains the inheritance of fragile X mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

DNA methylation and chromatin structure

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

DNA methylation represses FMR-1 transcription in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Genomic mismatch scanning: a new approach to genetic linkage mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Fragile X syndrome without CCG amplification has an FMR1 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Two families with Xq27.3 fragility, no detectable insert in the FMR-1 gene, mild mental impairment, and absence of the Martin-Bell phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

An unstable triplet repeat in a gene related to myotonic muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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/10.1111%2FJ.1365-2362.1994.TB02052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Detection of full fragile X mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Polymerase chain reaction analysis of fragile X mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Methylation and mutation patterns in the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Molecular studies of the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Validation of linkage-based DNA-diagnosis of fragile X gene carriers with the CGG repeat probe

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

X-linked mental retardation: a study of 7 families.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Fragile site Xq27 and mental retardation. Clinical and cytogenetic manifestation in heterozygotes and hemizygotes of five kindreds.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Carrier detection and X-inactivation studies in the fragile X syndrome. Cytogenetic studies in 63 obligate and potential carriers of the fragile X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Inactivation pattern of the fragile X in heterozygous carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

High dose folic acid treatment of fragile (X) males

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Folic acid treatment of fragile X males: a further study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Molecular genetics of the fragile-X syndrome: a novel type of unstable mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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/10.1111%2FJ.1365-2362.1994.TB02052.X

Population screening for fragile X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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/10.1111%2FJ.1365-2362.1994.TB02052.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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/10.1111%2FJ.1365-2362.1994.TB02052.X

Alternative splicing in the fragile X gene FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

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/10.1111%2FJ.1365-2362.1994.TB02052.X

Population screening for fragile-X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2362.1994.TB02052.X

10.1111/J.1365-2362.1994.TB02052.X

21 January 2018

Identifiers

DOI

1 reference

23 September 2017

1 reference