(Q33678120)

28 July 2017

1 reference

title

Variable FMR1 gene methylation of large expansions leads to variable phenotype in three males from one fragile X family (English)

1 reference

28 July 2017

1 reference

B B de Vries

1

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28 July 2017

C C Jansen

2

1 reference

28 July 2017

A A Duits

3

1 reference

28 July 2017

C Verheij

4

1 reference

28 July 2017

R Willemsen

5

1 reference

28 July 2017

J O van Hemel

6

1 reference

28 July 2017

A M van den Ouweland

7

1 reference

28 July 2017

M F Niermeijer

8

1 reference

28 July 2017

B A Oostra

9

1 reference

28 July 2017

D J Halley

10

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28 July 2017

language of work or name

English

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publication date

1 December 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

12

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28 July 2017

page(s)

1007-1010

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Mental status of females with an FMR1 gene full mutation

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=1050811

Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

A multicenter study on genotype-phenotype correlations in the fragile X syndrome, using direct diagnosis with probe StB12.3: the first 2,253 cases

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

The female and the fragile X. A study of 144 obligate female carriers.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

Fragile X genotype characterized by an unstable region of DNA.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

Absence of expression of the FMR-1 gene in fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

DNA methylation represses FMR-1 transcription in fragile X syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

Normal phenotype in two brothers with a full FMR1 mutation.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

Translational suppression by trinucleotide repeat expansion at FMR1.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

Rapid antibody test for fragile X syndrome.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050811

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=1050811

30 October 2018

Identifiers

DOI

10.1136/JMG.33.12.1007

1 reference

28 July 2017

1 reference

28 July 2017

1 reference