(Q37718076)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

title

A family with two female siblings with compound heterozygous FMR1 premutation alleles (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

author name string

K Basuta

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

R Lozano

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

C M Yrigollen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

D Hessl

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

R J Hagerman

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

F Tassone

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

publication date

28 July 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

volume

85

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

page(s)

458-463

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome

3 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3996450

Prevalence and risk of migraine headaches in adult fragile X premutation carriers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3996450

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3996450

The FMR1 premutation and attention-deficit hyperactivity disorder (ADHD): evidence for a complex inheritance

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3996450

Lifetime prevalence of mood and anxiety disorders in fragile X premutation carriers

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3996450

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3996450

FMR1 and the continuum of primary ovarian insufficiency

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3996450

Fragile X AGG analysis provides new risk predictions for 45-69 repeat alleles.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3996450

Very early premature ovarian failure in two sisters compound heterozygous for the FMR1 premutation.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3996450

Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3996450

Neuropsychological profiles of three sisters homozygous for the fragile X premutation.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3996450

Clinical phenotypes of a juvenile sibling pair carrying the fragile X premutation

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23786467

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/CGE.12218

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

release_vwxcrkm4xvalvn2n2vzm5ys5li

3 March 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/vwxcrkm4xvalvn2n2vzm5ys5li

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23786467%20AND%20SRC:MED&resulttype=core&format=json

3 March 2020

1 reference