(Q51756747)

English

Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome.

scientific article published in April 2007

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scholarly article

1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

Development of a novel, accurate, automated, rapid, high-throughput technique suitable for population-based carrier screening for Fragile X syndrome. (English)

1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

0 references

fragile X syndrome

1 reference

based on heuristic

inferred from title

Charles M Strom

1

object named as

Charles M Strom

1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

author name string

Donghui Huang

2

1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

Yuanyin Li

3

1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

Feras M Hantash

4

1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

Jenny Rooke

5

1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

Steven J Potts

6

1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

Weimin Sun

7

1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

language of work or name

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publication date

1 April 2007

1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

Genetics in Medicine

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Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

9

1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

4

1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

199-207

1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

https://scigraph.springernature.com/pub.10.1097/gim.0b013e31803d3ac9

0 references

Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

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.0B013E31803D3AC9

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

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.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

Association of FMR1 repeat size with ovarian dysfunction

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

The fragile-X premutation: a maturing perspective

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

Laboratory standards and guidelines for population-based cystic fibrosis carrier screening

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

Cost-effectiveness analysis of prenatal population-based fragile X carrier screening

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

Population based prenatal screening for the fragile X syndrome.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

Feasibility and acceptance of screening for fragile X mutations in low-risk pregnancies.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

Robust fragile X (CGG)n genotype classification using a methylation specific triple PCR assay

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E31803D3AC9

21 January 2018

Identifiers

10.1097/GIM.0B013E31803D3AC9

1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

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1 reference

Europe PubMed Central

11 April 2018

http://europepmc.org/abstract/MED/17438383

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