(Q48839034)

English

Correlation between FMR1 expression and clinical phenotype in discordant dichorionic-diamniotic monozygotic twin sisters with the fragile X mutation.

scientific article published on 27 November 2013

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

Correlation between FMR1 expression and clinical phenotype in discordant dichorionic-diamniotic monozygotic twin sisters with the fragile X mutation. (English)

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

author name string

Wen Huang

1

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

Shiyu Luo

2

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

Jianjun Ou

3

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

Furong Zhu

4

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

Yan Xia

5

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

Jinjie Xue

6

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

Qian Pan

7

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

Lingqian Wu

8

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

Ranhui Duan

9

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Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

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publication date

27 November 2013

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Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

Journal of Medical Genetics

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Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

51

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Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

3

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

159-164

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

Fragile X and autism: Intertwined at the molecular level leading to targeted treatments

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101978

21 January 2018

New perspectives on the biology of fragile X syndrome

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101978

21 January 2018

Genetic counseling and testing for FMR1 gene mutations: practice guidelines of the national society of genetic counselors.

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101978

21 January 2018

What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101978

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101978

21 January 2018

Genome-wide high throughput analysis of DNA methylation in eukaryotes

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101978

21 January 2018

Noninvasive test for fragile X syndrome, using hair root analysis

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101978

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101978

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101978

21 January 2018

Comparison of X-chromosome inactivation patterns in multiple tissues from human females

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101978

21 January 2018

Time of implantation of the conceptus and loss of pregnancy

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101978

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1136%2FJMEDGENET-2013-101978

21 January 2018

Identifiers

10.1136/JMEDGENET-2013-101978

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 February 2018

http://europepmc.org/abstract/MED/24285860

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