(Q52122631)

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Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay.

scientific article published in January 2002

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Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11896455

Lack of expression of XIST from a small ring X chromosome containing the XIST locus in a girl with short stature, facial dysmorphism and developmental delay. (English)

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11896455

Carolyn J. Brown

4

object named as

Carolyn J Brown

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

author name string

Darrell J Tomkins

1

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11896455

Helen L McDonald

2

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11896455

Sandra A Farrell

3

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11896455

publication date

1 January 2002

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11896455

European Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11896455

10

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11896455

1

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11896455

44-51

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11896455

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

1 reference

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21 January 2018

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

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21 January 2018

Position of the human X inactivation center on Xq

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21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200757

21 January 2018

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

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21 January 2018

X-chromosome inactivation: counting, choice and initiation

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21 January 2018

Molecular Characterization of Tiny Ring X Chromosomes from Females with Functional X Chromosome Disomy and Lack of cis X Inactivation

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21 January 2018

Turner syndrome: the case of the missing sex chromosome

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21 January 2018

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

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

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Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp.

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21 January 2018

Severe phenotype resulting from an active ring X chromosome in a female with a complex karyotype: characterisation and replication study

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21 January 2018

Clinical and molecular studies in 15 females with ring X chromosomes: implications for r(X) formation and mental development

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Prune-belly syndrome and other anomalies in a stillborn fetus with a ring X chromosome lacking XIST.

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21 January 2018

Characterization of a small supernumerary ring X chromosome by fluorescence in situ hybridization.

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21 January 2018

Molecular cytogenetic characterisation of a small ring X chromosome in a Turner patient and in a male patient with congenital abnormalities: role of X inactivation

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21 January 2018

A simple salting out procedure for extracting DNA from human nucleated cells

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21 January 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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21 January 2018

Heterogeneous gene expression from the inactive X chromosome: an X-linked gene that escapes X inactivation in some human cell lines but is inactivated in others

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21 January 2018

Identification and characterization of the human XIST gene promoter: implications for models of X chromosome inactivation

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200757

21 January 2018

Evolutionary conservation of possible functional domains of the human and murine XIST genes

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200757

21 January 2018

Uniparental and functional X disomy in Turner syndrome patients with unexplained mental retardation and X derived marker chromosomes

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200757

21 January 2018

Social, communicational, and behavioral deficits associated with ring X turner syndrome

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200757

21 January 2018

Seven ring (X) chromosomes lacking the XIST locus, six with an unexpectedly mild phenotype.

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200757

21 January 2018

Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome

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21 January 2018

A comparison of the clinical and cytogenetic findings in nine patients with a ring (X) cell line and 16 45,X patients

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21 January 2018

Analysis of the origin of Turner's syndrome using polymorphic DNA probes

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21 January 2018

22-Mb integrated physical and genetic map based on YAC/STS content spanning the interval DXS1125-DXS95 in human Xq12-q21.31.

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21 January 2018

2.6 Mb YAC contig of the human X inactivation center region in Xq13: physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes

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21 January 2018

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

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https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200757

21 January 2018

Cytogenetic and molecular characterization of marker chromosomes in patients with mosaic 45,X karyotypes

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7 January 2021

based on heuristic

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Characterization of a supernumerary small marker X chromosome in two females with similar phenotypes

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7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple congenital anomalies in a fetus with 45,X/46,X,r(X)(p11.22q12) mosaicism

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200757

7 January 2021

based on heuristic

inferred from DOI database lookup

Mosaicism for a small supernumerary ring X chromosome in a dysmorphic, growth-retarded male: mos47,XXY/48,XXY, +r(X).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200757

7 January 2021

based on heuristic

inferred from DOI database lookup

Screening of the C43G mutation in the promoter region of the XIST gene in females with highly skewed X-chromosome inactivation

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5200757

7 January 2021

based on heuristic

inferred from DOI database lookup

Imprinting moves to the centre

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5200757

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11896455

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/11896455

ResearchGate publication ID

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