(Q33677311)

28 July 2017

title

FMR1 fully expanded mutation with minimal methylation in a high functioning fragile X male (English)

1 reference

28 July 2017

Wang Z

1

1 reference

28 July 2017

Taylor AK

series ordinal

2

1 reference

28 July 2017

Bridge JA

series ordinal

3

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 May 1996

1 reference

Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

33

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28 July 2017

issue

5

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28 July 2017

page(s)

376-378

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Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050605

High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050605

14 July 2018

A marker X chromosome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050605

Prevalence of the fragile-X syndrome in mentally retarded boys in a Swedish county.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050605

Further segregation analysis of the fragile X syndrome with special reference to transmitting males

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050605

The frequency of the fragile X chromosome among schoolchildren in Coventry

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050605

Fragile X genotype characterized by an unstable region of DNA.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050605

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050605

Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050605

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

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050605

Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050605

The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm.

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050605

Fragile X syndrome in a normal IQ male with learning and emotional problems.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050605

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

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050605

Molecular predictors of cognitive involvement in female carriers of fragile X syndrome

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8733046

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.33.5.376

1 reference

28 July 2017

1 reference

28 July 2017

1 reference