(Q34390773)

1 August 2017

title

Noninvasive test for fragile X syndrome, using hair root analysis (English)

1 reference

1 August 2017

1 reference

Yvonne Hilhorst-Hofstee

5

object named as

Y Hilhorst-Hofstee

1 reference

1 August 2017

R Willemsen

1

1 reference

1 August 2017

B Anar

2

1 reference

1 August 2017

Y De Diego Otero

3

1 reference

1 August 2017

B B de Vries

4

1 reference

1 August 2017

A Smits

6

1 reference

1 August 2017

E van Looveren

7

1 reference

1 August 2017

P J Willems

8

1 reference

1 August 2017

H Galjaard

9

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1 August 2017

B A Oostra

10

1 reference

1 August 2017

language of work or name

English

0 references

publication date

1 July 1999

1 reference

American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

65

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1 August 2017

issue

1

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1 August 2017

page(s)

98-103

1 reference

Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378079

Mental status of females with an FMR1 gene full 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=1378079

Characterization and localization of the FMR-1 gene product associated with 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=1378079

The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378079

Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378079

Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumor.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378079

Evidence for the derivation of individual hair roots from three progenitor cells

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378079

The nucleotide sequence of chicken smooth muscle myosin light chain two

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378079

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378079

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full 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=1378079

Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in 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=1378079

DNA methylation represses FMR-1 transcription in 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=1378079

Fabry's disease: biochemical and histochemical studies on hair roots for carrier detection

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378079

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378079

Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378079

Mosaicism in fragile X affected males.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378079

Rapid antibody test for fragile X syndrome.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378079

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378079

Explorative study of costs, effects and savings of screening for female fragile X premutation and full mutation carriers in the general population

27 October 2018

1 reference

12 December 2020

Prevalence of fragile X syndrome

1 reference

12 December 2020

The fragile X syndrome and other fragile site disorders

1 reference

12 December 2020

Lesch-Nyhan Syndrome: Rapid Detection of Heterozygotes by Use of Hair Follicles

1 reference

12 December 2020

Glucose-6 phosphate dehydrogenase mosaicism: utilization as a tracer in the study of the development of hair root cells

1 reference

12 December 2020

Identifiers

DOI

10.1086/302462

1 reference

release_kfo5x4g4ejgebnnj2m3yicadha

1 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/kfo5x4g4ejgebnnj2m3yicadha

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1378079

1 reference

1 August 2017

1 reference