(Q51907966)

17 April 2018

title

Molecular testing for Fragile X Syndrome: lessons learned from 119,232 tests performed in a clinical laboratory. (English)

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17 April 2018

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1

Charles M Strom

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17 April 2018

author name string

Beryl Crossley

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Joy B Redman

3

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Arlene Buller

4

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Franklin Quan

5

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Mei Peng

6

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Matthew McGinnis

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Raymond G Fenwick

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Weimin Sun

9

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language of work or name

English

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publication date

1 January 2007

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17 April 2018

published in

Genetics in Medicine

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volume

9

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issue

1

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17 April 2018

page(s)

46-51

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17 April 2018

https://scigraph.springernature.com/pub.10.1097/gim.0b013e31802d833c

exact match

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cites work

Prevalence and phenotype consequence of FRAXA and FRAXE alleles in a large, ethnically diverse, special education-needs population

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

Deletion of 8.5 Mb, including the FMR1 gene, in a male with the fragile X syndrome phenotype and overgrowth.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

Deletions in Xq26.3-q27.3 including FMR1 result in a severe phenotype in a male and variable phenotypes in females depending upon the X inactivation pattern.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

ACOG committee opinion. No. 338: Screening for fragile X syndrome.

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

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

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles

21 January 2018

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https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

Association of FMR1 repeat size with ovarian dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

FMR1 repeat sizes in the gray zone and high end of the normal range are associated with premature ovarian failure.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

A 6-year experience demonstrates the utility of screening for both cytogenetic and FMR-1 abnormalities in patients with mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

Standardization of PCR amplification for fragile X trinucleotide repeat measurements

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

FMR1 and the fragile X syndrome: human genome epidemiology review

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

Reliability of gender determination using the polymerase chain reaction (PCR) for single cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31802D833C

10.1097/GIM.0B013E31802D833C

21 January 2018

Identifiers

DOI

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17 April 2018

Dimensions Publication ID

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17 April 2018