(Q35221532)

7 August 2017

1 reference

title

The unstable and methylatable mutations causing the fragile X syndrome (English)

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7 August 2017

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Rousseau F

1

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7 August 2017

Heitz D

series ordinal

2

1 reference

7 August 2017

Mandel JL

series ordinal

3

1 reference

7 August 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1301206

10 September 2022

publication date

1 January 1992

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7 August 2017

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7 August 2017

volume

1

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7 August 2017

issue

2

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7 August 2017

page(s)

91-96

1 reference

Cloning of the essential myotonic dystrophy region and mapping of the putative defect

7 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

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/10.1002%2FHUMU.1380010202

7 January 2021

CpG-rich islands and the function of DNA methylation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

7 January 2021

Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

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/10.1002%2FHUMU.1380010202

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/10.1002%2FHUMU.1380010202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

7 January 2021

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

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/10.1002%2FHUMU.1380010202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

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/10.1002%2FHUMU.1380010202

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/10.1002%2FHUMU.1380010202

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/10.1002%2FHUMU.1380010202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

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/10.1002%2FHUMU.1380010202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

7 January 2021

Report of the committee on cytogenetic markers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

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/10.1002%2FHUMU.1380010202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

7 January 2021

Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

7 January 2021

Genotype mosaicism in fragile X fetal tissues

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

7 January 2021

Fragile X genotype characterized by an unstable region of DNA.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.1380010202

7 January 2021

Identifiers

DOI

10.1002/HUMU.1380010202

1 reference

7 August 2017

1 reference