(Q41315849)

29 September 2017

title

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

1 reference

29 September 2017

1 reference

K. A. Lugenbeel

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7670500

3 August 2024

A. M. Peier

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7670500

3 August 2024

N. L. Carson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7670500

3 August 2024

A. E. Chudley

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7670500

3 August 2024

D. L. Nelson

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC:MED AND EXT_ID:7670500

3 August 2024

language of work or name

English

0 references

publication date

1 August 1995

1 reference

full work available at URL

29 September 2017

http://www.nature.com/articles/ng0895-483

1 reference

http://www.nature.com/articles/ng0895-483.pdf

3 August 2024

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3 August 2024

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

29 September 2017

cites work

1 reference

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

21 January 2018

1 reference

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

Fragile X syndrome without CCG amplification has an FMR1 deletion

21 January 2018

1 reference

Two new cases of FMR1 deletion associated with mental impairment.

21 January 2018

1 reference

The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein

21 January 2018

1 reference

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

21 January 2018

1 reference

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

Advances in molecular analysis of fragile X syndrome

21 January 2018

1 reference

7 January 2021

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

1 reference

7 January 2021

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

1 reference

7 January 2021

DNA methylation represses FMR-1 transcription in fragile X syndrome

1 reference

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

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

7 January 2021

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

1 reference

7 January 2021

FMR1 Protein: Conserved RNP Family Domains and Selective RNA Binding

1 reference

7 January 2021

Dynamic mutations hit double figures

1 reference

7 January 2021

Rapid detection of single base mismatches as heteroduplexes on Hydrolink gels

1 reference

7 January 2021

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

1 reference

7 January 2021

Alternative splicing in the fragile X gene FMR1.

1 reference

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