(Q51946917)

English

Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome.

scientific article published in October 2003

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scholarly article

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

Fragile-X syndrome and skewed X-chromosome inactivation within a family: a female member with complete inactivation of the functional X chromosome. (English)

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

fragile X syndrome

1 reference

based on heuristic

inferred from title

author name string

Heine-Suñer D

1

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

Torres-Juan L

2

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

Morlà M

3

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

Busquets X

4

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

Barceló F

5

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

Picó G

6

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

Bonilla L

7

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

Govea N

8

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

Bernués M

9

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

Rosell J

10

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

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publication date

1 October 2003

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

American Journal of Medical Genetics

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

122A

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

2

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

108-114

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

FMR1 and the fragile X syndrome: human genome epidemiology review

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20160

21 January 2018

A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20160

21 January 2018

Sex Chromosome Genetics '99. The X chromosome and recurrent spontaneous abortion: the significance of transmanifesting carriers

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20160

21 January 2018

Autosomal dominant mutations affecting X inactivation choice in the mouse.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20160

21 January 2018

Familial skewed X inactivation: a molecular trait associated with high spontaneous-abortion rate maps to Xq28

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20160

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20160

21 January 2018

A promoter mutation in the XIST gene in two unrelated families with skewed X-chromosome inactivation

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20160

21 January 2018

Contribution of the FMR1 gene mutation to human intellectual dysfunction

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20160

21 January 2018

Postmortem examination of two fragile X brothers with an FMR1 full mutation.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20160

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20160

21 January 2018

Tissue-specific methylation differences in a fragile X premutation carrier.

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20160

21 January 2018

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/10.1002%2FAJMG.A.20160

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FAJMG.A.20160

21 January 2018

Identifiers

10.1002/AJMG.A.20160

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

1 reference

Europe PubMed Central

18 April 2018

http://europepmc.org/abstract/MED/12955761

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