(Q51944467)

18 April 2018

title

Immunohistochemical FMRP studies in a full mutated female fetus. (English)

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18 April 2018

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Rifé M

1

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18 April 2018

Nadal A

series ordinal

2

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18 April 2018

Milà M

series ordinal

3

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18 April 2018

Willemsen R

series ordinal

4

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18 April 2018

language of work or name

English

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publication date

1 January 2004

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18 April 2018

American Journal of Medical Genetics

published in

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18 April 2018

volume

124A

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18 April 2018

issue

2

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18 April 2018

page(s)

129-132

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18 April 2018

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

cites work

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20342

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20342

Novel isoforms of the fragile X related protein FXR1P are expressed during myogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20342

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20342

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20342

Epigenetic reprogramming in mammalian development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20342

Differential expression of FMR1, FXR1 and FXR2 proteins in human brain and testis

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20342

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%2FAJMG.A.20342

Comparison of FMR1-protein expression in lymphocytes, methylation pattern in Southern blot analysis, and IQ values in three sisters with the fragile X syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20342

FMRP detection assay for the diagnosis of the fragile X syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20342

Rapid antibody test for diagnosing fragile X syndrome: a validation of the technique.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20342

Twin sisters, monozygotic with the fragile X mutation, but with a different phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20342

Timing of the absence of FMR1 expression in full mutation chorionic villi.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20342

21 January 2018

Identifiers

DOI

10.1002/AJMG.A.20342

1 reference

18 April 2018

1 reference

18 April 2018