(Q52035689)

20 April 2018

title

Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion (English)

1 reference

20 April 2018

author name string

Wöhrle D

1

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20 April 2018

Hennig I

2

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20 April 2018

Vogel W

3

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20 April 2018

Steinbach P

4

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20 April 2018

language of work or name

English

0 references

publication date

1 June 1993

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20 April 2018

published in

Nature Genetics

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20 April 2018

volume

4

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20 April 2018

issue

2

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20 April 2018

page(s)

140-142

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20 April 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-140

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/10.1038%2FNG0693-140

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-140

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-140

Heritable unstable DNA sequences and hypermethylation associated with fragile X syndrome in Japanese families

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-140

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/10.1038%2FNG0693-140

7 January 2021

Fragile X genotype characterized by an unstable region of DNA.

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-140

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/10.1038%2FNG0693-140

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/10.1038%2FNG0693-140

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/10.1038%2FNG0693-140

7 January 2021

Genotype mosaicism in fragile X fetal tissues

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-140

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/10.1038%2FNG0693-140

7 January 2021

Increased sister chromatid exchange frequency at Xq27 site in affected fragile X males

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-140

7 January 2021

Induction of the fragile X on BrdU-substituted chromosomes with direct visualization of sister chromatid exchanges on banded chromosomes

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-140

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-140

7 January 2021

Fragile X expression and X inactivation. II. The fragile site at Xq27.3 has a basic function in the pathogenesis of fragile X-linked mental retardation

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-140

7 January 2021

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-140

7 January 2021

An embryogenic model to explain cytogenetic inconsistencies observed in chorionic villus versus fetal tissue

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-140

7 January 2021

Regional and temporal changes in the pattern of X-chromosome replication during the early post-implantation development of the female mouse

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-140

7 January 2021

Molecular heterogeneity of the fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0693-140

7 January 2021

Identifiers

DOI

10.1038/NG0693-140

1 reference

20 April 2018

release_dimtpmljg5dktgdyducurerw24

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dimtpmljg5dktgdyducurerw24

24 November 2022

mapped directly with Wikidata item

1 reference

20 April 2018