FRAXA and FRAXE: the results of a five year survey (Q35434914)

8 August 2017

title

FRAXA and FRAXE: the results of a five year survey (English)

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8 August 2017

Youings SA

1

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8 August 2017

Murray A

2

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8 August 2017

Dennis N

3

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8 August 2017

Ennis S

4

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8 August 2017

Lewis C

5

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8 August 2017

McKechnie N

6

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8 August 2017

Pound M

7

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8 August 2017

Sharrock A

8

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8 August 2017

Jacobs P

9

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8 August 2017

publication date

1 June 2000

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Journal of Medical Genetics

8 August 2017

language of work or name

English

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published in

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8 August 2017

volume

37

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8 August 2017

issue

6

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8 August 2017

page(s)

415-421

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Screening for the fragile X syndrome among the mentally retarded: a clinical study. The Collaborative Fragile X Study Group.

8 August 2017

cites work

1 reference

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Fragile X premutation is a significant risk factor for premature ovarian failure: the International Collaborative POF in Fragile X study--preliminary data

27 July 2018

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

27 July 2018

1 reference

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FRAXA and FRAXE: Evidence against segregation distortion and for an effect of intermediate alleles on learning disability

27 July 2018

1 reference

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Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group

27 July 2018

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Cognitive, behavioral, and neuroanatomical assessment of two unrelated male children expressing FRAXE.

27 July 2018

1 reference

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Fragile X syndrome is less common than previously estimated

27 July 2018

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27 July 2018

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A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom.

27 July 2018

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The FRAXE Syndrome: is it time for routine screening?

27 July 2018

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Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation

27 July 2018

1 reference

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Population studies of the fragile X: a molecular approach

27 July 2018

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Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.

27 July 2018

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FRAXE and mental retardation

27 July 2018

1 reference

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FRAXE expansion is not a common etiological factor among developmentally delayed males.

27 July 2018

1 reference

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The frequency of the fragile X chromosome among schoolchildren in Coventry

27 July 2018

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Fragile X genotype characterized by an unstable region of DNA.

27 July 2018

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Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome

27 July 2018

1 reference

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Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability

27 July 2018

1 reference

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The intermediate alleles of the fragile X CGG repeat in patients with mental retardation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734610

Trinucleotide repeat expansion in the FRAXE locus is not common among institutionalized individuals with non-specific developmental disabilities

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734610

A survey of FRAXE allele sizes in three populations

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734610

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734610

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

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734610

Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734610

A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities

26 September 2018

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12 December 2020

Preventive screening for the fragile X syndrome

1 reference

12 December 2020

The origin of 47,XXY and 47,XXX aneuploidy: heterogeneous mechanisms and role of aberrant recombination

1 reference

12 December 2020

Prevalence of fragile X syndrome

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12 December 2020

Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.37.6.415

1 reference

8 August 2017

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8 August 2017

1 reference