(Q35716491)

9 August 2017

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title

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

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9 August 2017

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Mandel JL

1

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9 August 2017

Heitz D

series ordinal

2

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9 August 2017

publication date

1 June 1992

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Current Opinion in Genetics & Development

9 August 2017

published in

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9 August 2017

volume

2

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9 August 2017

issue

3

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9 August 2017

page(s)

422-430

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

9 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Fragile X syndrome: a unique mutation in man.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Genetic mapping of new RFLPs at Xq27–q28

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Linear order of new and established DNA markers around the fragile site at Xq27.3.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Probes for CpG islands on the distal long arm of the human X chromosome are clustered in Xq24 and Xq28.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Fragile X genotype characterized by an unstable region of DNA.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

A YAC contig across the fragile X site defines the region of fragility

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Molecular cloning and analysis of the fragile X region in man

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Direct DNA analysis of fragile X syndrome in Spanish pedigrees

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Methylation and mutation patterns in the fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Fragile Xq27.3 in female heterozygotes for the Martin-Bell syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

The use of synthetic tandem repeats to isolate new VNTR loci: cloning of a human hypermutable sequence

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Detection of full fragile X mutation.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Polymerase chain reaction analysis of fragile X mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Fragile X syndrome: a hypothesis regarding the molecular mechanism of the phenotype

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Fragile X mental retardation and the iduronate sulphatase locus: testing Laird's model of fra(X) inheritance

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

XLMR genes: update 1992.

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

Molecular heterogeneity of the fragile X syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0959-437X%2805%2980153-4

7 January 2021

10.1016/S0959-437X(05)80153-4

Identifiers

DOI

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9 August 2017

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