(Q41127095)

27 September 2017

1 reference

title

X chromosome inactivation and X-linked mental retardation (English)

1 reference

27 September 2017

Willard HF

1

1 reference

27 September 2017

publication date

1 July 1996

1 reference

American Journal of Medical Genetics Part A

27 September 2017

published in

1 reference

27 September 2017

volume

64

1 reference

27 September 2017

issue

1

1 reference

27 September 2017

page(s)

21-26

1 reference

A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome

27 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Localization of the X inactivation centre on the human X chromosome in Xq13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Pyruvate dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

An assay for X inactivation based on differential methylation at the fragile X locus, FMR1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

DEMONSTRATION OF TWO POPULATIONS OF CELLS IN THE HUMAN FEMALE HETEROZYGOUS FOR GLUCOSE-6-PHOSPHATE DEHYDROGENASE VARIANTS

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Three patients with ring (X) chromosomes and a severe phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Escape from X inactivation in human and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Noninactivation of a portion of Xq28 in a balanced X-autosome translocation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

45,X/46,X,+r(X) can have a distinct phenotype different from Ullrich-Turner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Partial X chromosome trisomy with functional disomy of Xp due to failure of X inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

An X chromosome inactivation assay based on differential methylation of a CpG island coupled to a VNTR polymorphism at the 5' end of the monoamine oxidase A gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Expression of Xist during mouse development suggests a role in the initiation of X chromosome inactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

45X/46X,r(X) with syndactyly and severe mental retardation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Gene action in the X-chromosome of the mouse (Mus musculus L.)

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Genetic and biochemical normalization in female carriers of Duchenne muscular dystrophy: evidence for failure of dystrophin production in dystrophin-competent myonuclei

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: A review of 122 cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Duplications of the X chromosome in males: evidence that most parts of the X chromosome can be active in two copies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Cloning and characterization of a new human Xq13 gene, encoding a putative helicase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Somatic mosaicism and female-to-female transmission in a kindred with hemophilia B (factor IX deficiency).

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Position of the human X inactivation center on Xq

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Mental retardation in Turner syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Ullrich-Turner syndrome with a small ring X chromosome and presence of mental retardation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

Bibliography on ceroid-lipofuscinoses, II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2F%28SICI%291096-8628%2819960712%2964%3A1%3C21%3A%3AAID-AJMG2%3E3.0.CO%3B2-U

10.1002/(SICI)1096-8628(19960712)64:1<21::AID-AJMG2>3.0.CO;2-U

21 January 2018

Identifiers

DOI

1 reference

27 September 2017

1 reference