The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation (Q38317052)

2 September 2017

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

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2 September 2017

Devys D

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2 September 2017

Lutz Y

2

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2 September 2017

Rouyer N

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2 September 2017

Bellocq JP

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2 September 2017

Mandel JL

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2 September 2017

language of work or name

English

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publication date

1 August 1993

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2 September 2017

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2 September 2017

4

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2 September 2017

4

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2 September 2017

335-340

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https://scigraph.springernature.com/pub.10.1038/ng0893-335

2 September 2017

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

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

21 January 2018

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

21 January 2018

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A point mutation in the FMR-1 gene associated with fragile X mental retardation

21 January 2018

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Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome.

21 January 2018

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Human and murine FMR-1: alternative splicing and translational initiation downstream of the CGG-repeat.

21 January 2018

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

21 January 2018

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A rapid and sensitive method for the quantitation of microgram quantities of protein utilizing the principle of protein-dye binding

21 January 2018

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Production of monoclonal antibodies: strategy and tactics

21 January 2018

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

21 January 2018

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7 January 2021

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

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7 January 2021

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

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7 January 2021

Fragile X genotype characterized by an unstable region of DNA.

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7 January 2021

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

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-335

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-335

7 January 2021

Inheritance of the fragile X syndrome: size of the fragile X premutation is a major determinant of the transition to full mutation

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-335

7 January 2021

DNA methylation represses FMR-1 transcription in fragile X syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0893-335

7 January 2021

Fragile X syndrome without CCG amplification has an FMR1 deletion

1 reference

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7 January 2021

Human oestrogen receptor cDNA: sequence, expression and homology to v-erb-A

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7 January 2021

Alternative splicing in the fragile X gene FMR1.

1 reference

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7 January 2021

Nucleus basalis magnocellularis and hippocampus are the major sites of FMR-1 expression in the human fetal brain.

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7 January 2021

Neuroanatomy of fragile X syndrome: the posterior fossa

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7 January 2021

Spermatogenesis in two patients with the fragile X syndrome. I. Histology: light and electron microscopy.

1 reference

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7 January 2021

Spermatogenesis in two patients with the fragile X syndrome. II. First meiosis: light and electron microscopy.

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7 January 2021

Cyclic AMP metabolism in fragile X syndrome

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7 January 2021

Monoclonal antibodies to NF-Y define its function in MHC class II and albumin gene transcription.

1 reference

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7 January 2021

Identifiers

DOI

10.1038/NG0893-335

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2 September 2017

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