Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. (Q34327177)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

title

Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

0 references

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Celia Badenas

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Montserrat Milà

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

author name string

Laia Rodriguez-Revenga

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Mar Xunclà

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Beatriz Gomez

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Javier Pagonabarraga

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

Jaime Kulisevsky

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

publication date

15 April 2009

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

26 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

volume

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

issue

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

page(s)

1359-1362

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

Management of fibromyalgia and comorbid psychiatric disorders

26 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986640

Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986640

The fragile-X premutation: a maturing perspective

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986640

Aging in individuals with the FMR1 mutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986640

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986640

The Colorado thyroid disease prevalence study

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986640

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986640

Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986640

The prevalence and characteristics of fibromyalgia in the general population.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986640

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the fragile X syndrome.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986640

Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986640

Incidence of fragile X in 5,000 consecutive newborn males.

6 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.51

Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.51

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.51

Clinical involvement and protein expression in individuals with the FMR1 premutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.51

Expanded clinical phenotype of women with the FMR1 premutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.51

Implications of the FMR1 gene in menopause: study of 147 Spanish women

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.51

Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.51

Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.51

Evidence of depressive symptoms in fragile-X syndrome premutated females.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.51

Introduction: fibromyalgia and its related disorders

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986640

Neurobehavioral phenotype in carriers of the fragile X premutation

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2986640

Hypothalamic-pituitary-adrenal axis perturbations in patients with fibromyalgia

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19367323

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Treating movement disorders and akathisia as side effects of antipsychotic pharmacotherapy

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.51

inferred from DOI database lookup

7 January 2021

based on heuristic

Managing weight gain and metabolic issues in patients treated with atypical antipsychotics.

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2009.51

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2009.51

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19367323%20AND%20SRC:MED&resulttype=core&format=json

26 January 2020

PubMed publication ID

19367323

1 reference