(Q41315849)

29 September 2017

title

Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome (English)

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29 September 2017

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Lugenbeel KA

1

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29 September 2017

Peier AM

2

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29 September 2017

Carson NL

3

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29 September 2017

Chudley AE

4

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29 September 2017

Nelson DL

5

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29 September 2017

language of work or name

English

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publication date

1 August 1995

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29 September 2017

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29 September 2017

volume

10

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29 September 2017

issue

4

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29 September 2017

page(s)

483-485

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https://scigraph.springernature.com/pub.10.1038/ng0895-483

29 September 2017

exact match

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cites work

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

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/10.1038%2FNG0895-483

Fragile X syndrome without CCG amplification has an FMR1 deletion

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

Two new cases of FMR1 deletion associated with mental impairment.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

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/10.1038%2FNG0895-483

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

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/10.1038%2FNG0895-483

Advances in molecular analysis of fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

7 January 2021

DNA methylation represses FMR-1 transcription in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

7 January 2021

An extensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

7 January 2021

Male with typical fragile X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region.

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

7 January 2021

A de novo deletion in FMR1 in a patient with developmental delay

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

7 January 2021

Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

7 January 2021

FMR1 protein: conserved RNP family domains and selective RNA binding

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

7 January 2021

Dynamic mutations hit double figures

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

7 January 2021

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

7 January 2021

A routine method for the establishment of permanent growing lymphoblastoid cell lines

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

7 January 2021

Alternative splicing in the fragile X gene FMR1.

1 reference

https://api.crossref.org/works/10.1038%2FNG0895-483

7 January 2021

Identifiers

DOI

10.1038/NG0895-483

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Dimensions Publication ID

29 September 2017

1025647902

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1 reference