Preparation and validation of the first WHO international genetic reference panel for Fragile X syndrome. (Q34576273)

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11 February 2020

title

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

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11 February 2020

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corrigendum / erratum

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

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author

Kathleen E. Wright

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11 February 2020

David Barton

8

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Glyn Stacey

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author name string

Malcolm Hawkins

1

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11 February 2020

Jennifer Boyle

2

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11 February 2020

Rob Elles

4

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11 February 2020

Simon C Ramsden

5

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11 February 2020

Anna O'Grady

6

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Michael Sweeney

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Trent Burgess

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11 February 2020

Melanie Moore

10

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11 February 2020

Chris Burns

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11 February 2020

Elaine Gray

13

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Paul Metcalfe

14

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J Ross Hawkins

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11 February 2020

publication date

25 August 2010

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European Journal of Human Genetics

11 February 2020

published in

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volume

19

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page(s)

10-17

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issue

1

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

11 February 2020

exact match

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cites work

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

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

7 July 2018

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7 July 2018

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7 July 2018

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Fragile X syndrome: diagnostic and carrier testing

7 July 2018

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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

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

7 July 2018

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

7 July 2018

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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

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

7 July 2018

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

7 July 2018

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

7 July 2018

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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

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Procedures for Detecting Outlying Observations in Samples

27 October 2018

1 reference

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2010.135

1 reference

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11 February 2020

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11 February 2020

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