(Q34694759)

4 August 2017

0 references

A nonsense mutation in FMR1 causing fragile X syndrome (English)

1 reference

4 August 2017

1 reference

4

Helle Hjalgrim

0 references

author name string

Karen Grønskov

series ordinal

1

1 reference

PubMed ID

21267007

4 August 2017

Karen Brøndum-Nielsen

series ordinal

2

1 reference

PubMed ID

21267007

4 August 2017

Alma Dedic

series ordinal

3

1 reference

4 August 2017

26 January 2011

1 reference

European Journal of Human Genetics

4 August 2017

1 reference

4 August 2017

19

1 reference

4 August 2017

4

1 reference

4 August 2017

489-491

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2010.223

4 August 2017

0 references

cites work

Array-based FMR1 sequencing and deletion analysis in patients with a fragile X syndrome-like phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060329

Fragile X: a family of disorders

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060329

Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060329

Severe mental retardation and macroorchidism without mutation in the FMR1 gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060329

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060329

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060329

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060329

Identification of novel FMR1 variants by massively parallel sequencing in developmentally delayed males.

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.223

Skewed X inactivation of the normal allele in fully mutated female carriers determines the levels of FMRP in blood and the fragile X phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.223

No apparent involvement of the FMR1 gene in five patients with phenotypic manifestations of the fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.223

Single-strand conformation polymorphism analysis of the FMR1 gene in autistic and mentally retarded children in Japan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.223

Single-strand conformation polymorphism analysis in the FMR1 gene.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3060329

Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21267007

12 December 2020

inferred from PubMed ID database lookup

Mutational analysis of the FMR1 gene in 118 mentally retarded males suspected of fragile X syndrome: absence of prevalent mutations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21267007

12 December 2020

inferred from PubMed ID database lookup

Mosaic FMR1 deletion causes fragile X syndrome and can lead to molecular misdiagnosis: a case report and review of the literature

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21267007

12 December 2020

inferred from PubMed ID database lookup

Severe mental retardation and macroorchidism without mutation in the FMR1 gene

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.223

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/EJHG.2010.223

1 reference

4 August 2017

1 reference

4 August 2017

1 reference

PubMed ID

21267007