(Q48351859)

10 February 2018

title

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

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10 February 2018

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3

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10 February 2018

author name string

Hinds HL

1

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10 February 2018

Ashley CT

2

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10 February 2018

Nelson DL

4

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10 February 2018

Warren ST

5

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10 February 2018

Housman DE

6

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10 February 2018

Schalling M

7

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10 February 2018

language of work or name

English

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publication date

1 January 1993

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10 February 2018

published in

Nature Genetics

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10 February 2018

volume

3

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10 February 2018

page(s)

36-43

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10 February 2018

issue

1

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10 February 2018

https://scigraph.springernature.com/pub.10.1038/ng0193-36

exact match

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cites work

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence

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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

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Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis

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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Fragile X syndrome without CCG amplification has an FMR1 deletion

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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21 January 2018

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Population incidence and segregation ratios in the Martin-Bell syndrome.

21 January 2018

1 reference

7 January 2021

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

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7 January 2021

Prevalence of the fragile X syndrome in four birth cohorts of children of school age

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7 January 2021

X-linked mental retardation

1 reference

7 January 2021

X-linked mental retardation, macro-orchidism, and the Xq27 fragile site

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7 January 2021

The marker (X) syndrome: a cytogenetic and genetic analysis.

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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

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

7 January 2021

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

1 reference

7 January 2021

Fragile X genotype characterized by an unstable region of DNA.

1 reference

7 January 2021

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

1 reference

7 January 2021

Isolation of sequences that span the fragile X and identification of a fragile X-related CpG island

1 reference

7 January 2021

Gene-induced embryological modifications of primordial germ cells in the mouse

1 reference

7 January 2021

Fragile X syndrome, DSM-III-R, and autism.

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7 January 2021

Neuroanatomy of fragile X syndrome: the posterior fossa

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7 January 2021

Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation

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7 January 2021

Fifth international workshop on fragile X and X-linked mental retardation

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7 January 2021

Identifiers

DOI

10.1038/NG0193-36

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10 February 2018

PubMed ID

8490651

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10 February 2018