(Q48061195)

8 February 2018

title

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

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8 February 2018

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de Graaff E

1

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8 February 2018

de Vries BB

2

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8 February 2018

Willemsen R

3

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8 February 2018

van Hemel JO

4

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8 February 2018

Mohkamsing S

5

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8 February 2018

Oostra BA

6

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8 February 2018

van den Ouweland AM

7

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8 February 2018

publication date

1 August 1996

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8 February 2018

American Journal of Medical Genetics Part A

published in

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8 February 2018

volume

64

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8 February 2018

issue

2

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8 February 2018

page(s)

302-308

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8 February 2018

Enhanced expression of the murine FMR1 gene during germ cell proliferation suggests a special function in both the male and the female gonad

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Short, direct repeats at the breakpoints of deletions of the retinoblastoma gene

21 January 2018

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Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients

21 January 2018

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The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation

21 January 2018

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A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

21 January 2018

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Quantitative comparison of FMR1 gene expression in normal and premutation alleles

21 January 2018

1 reference

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Translational suppression by trinucleotide repeat expansion at FMR1.

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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Methylation analysis of CGG sites in the CpG island of the human FMR1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

In vitro DNA methylation inhibits FMR-1 promoter.

21 January 2018

1 reference

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

21 January 2018

1 reference

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A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

The nucleotide sequence of chicken smooth muscle myosin light chain two

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

Mosaicism in fragile X affected males.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

Guidelines for the diagnosis of fragile X syndrome. National Fragile X Foundation

21 January 2018

1 reference

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

Frequency and stability of the fragile X premutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

Normal phenotype in two brothers with a full FMR1 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

DNA methylation represses FMR-1 transcription in fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

A mechanism for deletion formation in DNA by human cell extracts: the involvement of short sequence repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

Limited size of the fragile X site shown by fluorescence in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

Rapid antibody test for fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

Genotype mosaicism in fragile X fetal tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

Fragile X genotype characterized by an unstable region of DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

Molecular cytogenetic study of supernumerary marker chromosomes in an unselected group of children

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

Association of fragile X syndrome with delayed replication of the FMR1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

DNA diagnosis of the fragile X syndrome in a series of 236 mentally retarded subjects and evidence for a reversal of mutation in the FMR-1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960809%2964%3A2%3C302%3A%3AAID-AJMG14%3E3.0.CO%3B2-J

10.1002/(SICI)1096-8628(19960809)64:2<302::AID-AJMG14>3.0.CO;2-J

21 January 2018

Identifiers

DOI

1 reference

8 February 2018

1 reference

8 February 2018