(Q37765126)

22 August 2017

1 reference

title

A systematic review of population screening for fragile X syndrome (English)

1 reference

22 August 2017

1 reference

1 reference

Melissa K Hill

1

1 reference

22 August 2017

Alison D Archibald

series ordinal

2

1 reference

22 August 2017

Jonathan Cohen

series ordinal

3

1 reference

22 August 2017

Sylvia A Metcalfe

series ordinal

4

1 reference

22 August 2017

language of work or name

English

0 references

publication date

1 July 2010

1 reference

22 August 2017

1 reference

22 August 2017

12

1 reference

22 August 2017

7

1 reference

22 August 2017

396-410

1 reference

https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181e38fb6

22 August 2017

0 references

cites work

Population genetic screening programmes: principles, techniques, practices, and policies

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Population based prenatal screening for the fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Should all pregnant women be offered carrier testing for fragile X syndrome?

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Policy considerations in designing a fragile X population screening program

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Clinical significance of tri-nucleotide repeats in Fragile X testing: a clarification of American College of Medical Genetics guidelines

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

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.0B013E3181E38FB6

Preconceptional and prenatal screening for fragile X syndrome: experience with 40,000 tests.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

The fragile X continuum: new advances and perspectives

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Orthopaedic aspects of fragile-X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Ocular status of boys with fragile X syndrome: a prospective study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Advances in the treatment of fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Systematic review of pharmacological treatments in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Effect of CX516, an AMPA-modulating compound, on cognition and behavior in fragile X syndrome: a controlled trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Open-label treatment trial of lithium to target the underlying defect in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Cholinergic dysfunction in fragile X syndrome and potential intervention: a preliminary 1H MRS study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

A pilot open label, single dose trial of fenobam in adults with fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Obstetrical and gynecological complications in fragile X carriers: a multicenter study

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Premature ovarian failure in the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Population screening at the FRAXA and FRAXE loci: molecular analyses of boys with learning difficulties and their mothers.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Screening with the FMR1 protein test among mentally retarded males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

FMR1 and the fragile X syndrome: human genome epidemiology review

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Screening and instability of FMR1 alleles in a prospective sample of 24,449 mother-newborn pairs from the general population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Fragile X carrier screening and FMR1 allele distribution in the Japanese population.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Pilot fragile X screening in normal population of Taiwan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Fragile X syndrome: diagnostic and carrier testing

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Discovering fragile X syndrome: family experiences and perceptions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

DNA testing for fragile X syndrome: implications for parents and family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Polymerase chain reaction, nuclease digestion, and mass spectrometry based assay for the trinucleotide repeat status of the fragile X mental retardation 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Clinical genetic evaluation of the child with mental retardation or developmental delays

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Population screening in the age of genomic medicine

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Recommendations from multi-disciplinary focus groups on cascade testing and genetic counseling for fragile X-associated disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Molecular fragile X screening in normal populations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

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.0B013E3181E38FB6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Women's attitudes toward testing for fragile X carrier status: a qualitative analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Fragile X screening: attitudes of genetic health professionals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

The development of a six-item short-form of the state scale of the Spielberger State-Trait Anxiety Inventory (STAI).

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Economic evaluation of prenatal population screening for fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Incidence of fragile X in 5,000 consecutive newborn males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Carrier testing in fragile X syndrome: when to tell and test.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Genetic risk communication: experiences of adolescent girls and young women from families with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

Emotional reaction to fragile X premutation carrier tests among infertile women

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181E38FB6

10.1097/GIM.0B013E3181E38FB6

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

22 August 2017

0 references

1 reference