(Q35033858)

5 August 2017

Fragile X syndrome: diagnostic and carrier testing (English)

1 reference

5 August 2017

1 reference

Stephanie Sherman

1

1 reference

5 August 2017

Beth A Pletcher

series ordinal

2

1 reference

5 August 2017

Deborah A Driscoll

series ordinal

3

1 reference

5 August 2017

language of work or name

English

0 references

publication date

1 October 2005

1 reference

5 August 2017

1 reference

5 August 2017

7

1 reference

5 August 2017

584-587

1 reference

5 August 2017

8

1 reference

https://scigraph.springernature.com/pub.10.1097/01.gim.0000182468.22666.dd

5 August 2017

0 references

cites work

Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110946

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110946

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110946

Paternally transmitted FMR1 alleles are less stable than maternally transmitted alleles in the common and intermediate size range

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110946

FMR1 and the fragile X syndrome: human genome epidemiology review

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110946

Premature ovarian failure in the fragile X syndrome

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110946

Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110946

FMR1 protein: conserved RNP family domains and selective RNA binding

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110946

Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110946

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3110946

Prevalence of the fragile X syndrome in African-Americans.

8 July 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000182468.22666.DD

Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000182468.22666.DD

Tremor, ataxia and dementia in older men may indicate a carrier of the fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000182468.22666.DD

Paternal transmission of fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000182468.22666.DD

Translational suppression by trinucleotide repeat expansion at FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2F01.GIM.0000182468.22666.DD

Factors involved in the initial mutation of the fragile X CGG repeat as determined by sperm small pool PCR

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16247297

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1097/01.GIM.0000182468.22666.DD

1 reference

Dimensions Publication ID

5 August 2017

0 references

1 reference

5 August 2017

1 reference