(Q45970095)

English

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening. (English)

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

fragile X syndrome

1 reference

based on heuristic

inferred from title

Charles M Strom

9

object named as

Charles M Strom

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

author name string

Feras M Hantash

1

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

Dana G Goos

2

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

David Tsao

3

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

Franklin Quan

4

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

Arlene Buller-Burckle

5

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

Mei Peng

6

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

Michael Jarvis

7

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

Weimin Sun

8

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

language of work or name

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publication date

1 March 2010

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

Genetics in Medicine

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Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

12

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

3

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

162-173

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Fragile X syndrome: diagnostic and carrier testing

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Fragile X-associated tremor/ataxia syndrome (FXTAS).

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

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.0B013E3181D0D40E

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.0B013E3181D0D40E

21 January 2018

Fragile X syndrome carrier screening in the prenatal genetic counseling setting.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Population screening for fragile X

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Molecular fragile X screening in normal populations.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

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.0B013E3181D0D40E

21 January 2018

No change in the age of diagnosis for fragile x syndrome: findings from a national parent survey

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

An enhanced polymerase chain reaction assay to detect pre- and full mutation alleles of the fragile X mental retardation 1 gene

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

A rapid polymerase chain reaction-based screening method for identification of all expanded alleles of the fragile X (FMR1) gene in newborn and high-risk populations.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Polymerase chain reaction analysis of fragile X mutations

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Detection of full fragile X mutation.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Single-cell analysis of unstable genes

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Prenatal fragile X detection using cytoplasmic and nuclear-specific monoclonal antibodies.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Methylation analysis of the fragile X syndrome by PCR.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Simplified molecular diagnosis of fragile X syndrome by fluorescent methylation-specific PCR and GeneScan analysis.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

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.0B013E3181D0D40E

21 January 2018

Triplet repeat primed PCR (TP PCR) in molecular diagnostic testing for Friedreich ataxia.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Simple procedure for automatic detection of unstable alleles in the myotonic dystrophy and Huntington's disease loci

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening.

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Direct visualization of cystic fibrosis transmembrane regulator mutations in the clinical laboratory setting

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Technical validation of a TM Biosciences Luminex-based multiplex assay for detecting the American College of Medical Genetics recommended cystic fibrosis mutation panel

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Lack of association between mutation size and cognitive/behavior deficits in fragile X males: a brief report

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Ethical, legal, and social concerns about expanded newborn screening: fragile X syndrome as a prototype for emerging issues

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Population screening for fragile-X syndrome

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Attitudes toward fragile X mutation carrier testing from women identified in a general population survey

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181D0D40E

21 January 2018

Identifiers

10.1097/GIM.0B013E3181D0D40E

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

Dimensions Publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

18 December 2017

http://europepmc.org/abstract/MED/20168238

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