(Q34576273)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20736975%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

title

Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome (English)

1 reference

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11 February 2020

1 reference

corrigendum / erratum

Erratum: Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome

0 references

author

Kathleen E. Wright

3

1 reference

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11 February 2020

David Barton

8

1 reference

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11 February 2020

12

Glyn Stacey

1 reference

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11 February 2020

author name string

Malcolm Hawkins

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20736975%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Jennifer Boyle

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20736975%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Rob Elles

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20736975%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Simon C Ramsden

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20736975%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

Anna O'Grady

6

1 reference

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11 February 2020

Michael Sweeney

7

1 reference

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11 February 2020

Trent Burgess

9

1 reference

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11 February 2020

Melanie Moore

10

1 reference

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11 February 2020

Chris Burns

11

1 reference

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11 February 2020

Elaine Gray

13

1 reference

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11 February 2020

Paul Metcalfe

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20736975%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

J Ross Hawkins

15

1 reference

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11 February 2020

publication date

25 August 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20736975%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

11 February 2020

published in

1 reference

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11 February 2020

volume

19

1 reference

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11 February 2020

issue

1

1 reference

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11 February 2020

page(s)

10-17

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https://scigraph.springernature.com/pub.10.1038/ejhg.2010.135

11 February 2020

exact match

0 references

cites work

Screening for expanded alleles of the FMR1 gene in blood spots from newborn males in a Spanish population

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039502

An improved Diagnostic PCR Assay for identification of Cryptic Heterozygosity for CGG Triplet Repeat Alleles in the Fragile X Gene (FMR1).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039502

Consensus characterization of 16 FMR1 reference materials: a consortium study

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039502

Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and Ireland

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039502

Fragile X syndrome: diagnostic and carrier testing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039502

Epstein-Barr virus transformation of human lymphoblastoid cells from patients with fragile X syndrome induces variable changes on CGG repeats size and promoter methylation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039502

Fragile-X carrier screening and the prevalence of premutation and full-mutation carriers in Israel.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039502

Insert size and flanking haplotype in fragile X and normal populations: possible multiple origins for the fragile X mutation

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039502

Prevalence of carriers of premutation-size alleles of the FMRI gene--and implications for the population genetics of the 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=3039502

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039502

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

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039502

Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles.

7 July 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.135

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.2010.135

Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.135

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.2010.135

The Italian External Quality Assessment Scheme for Fragile X Syndrome: The Results of a 5-Year Survey

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.135

Establishment of the 1st International Genetic Reference Panel for Factor V Leiden, human gDNA.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3039502

Procedures for Detecting Outlying Observations in Samples

27 October 2018

1 reference

https://api.crossref.org/works/10.1038%2FEJHG.2010.135

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.135

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20736975%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20736975%20AND%20SRC:MED&resulttype=core&format=json

11 February 2020

1 reference