(Q33680960)

28 July 2017

title

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

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28 July 2017

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Yorifuji T

1

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28 July 2017

Muroi J

2

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28 July 2017

Kawai M

3

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28 July 2017

Uematsu A

4

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28 July 2017

Sasaki H

5

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28 July 2017

Momoi T

6

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28 July 2017

Kaji M

7

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28 July 2017

Yamanaka C

8

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28 July 2017

Furusho K

9

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28 July 2017

language of work or name

English

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publication date

1 July 1998

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

35

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28 July 2017

issue

7

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28 July 2017

page(s)

539-544

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Evidence from Turner's syndrome of an imprinted X-linked locus affecting cognitive function.

28 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

Long-range cis effects of ectopic X-inactivation centres on a mouse autosome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

Xist has properties of the X-chromosome inactivation centre

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

Requirement for Xist in X chromosome inactivation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

Clonality in myeloproliferative disorders: analysis by means of the polymerase chain reaction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

Preferential inactivation of the paternally derived X chromosome in the extraembryonic membranes of the mouse

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051363

Paternal X-chromosome inactivation in human trophoblastic cells

21 June 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

PCR-based detection of mosaicism in Turner syndrome patients

1 reference

12 December 2020

Preferential expression of the maternally derived X chromosome in the mouse yolk sac

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.35.7.539

1 reference

28 July 2017

1 reference

28 July 2017

1 reference