Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl (Q35197105)

7 August 2017

title

Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl (English)

1 reference

7 August 2017

main subject

mucopolysaccharidosis II

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678247

sex chromosome aberration

27 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678247

restriction fragment length polymorphism

27 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678247

27 October 2022

author name string

J. T. Clarke

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678247

27 October 2022

W. L. Greer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678247

27 October 2022

P. M. Strasberg

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678247

27 October 2022

R. D. Pearce

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678247

27 October 2022

M. A. Skomorowski

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678247

27 October 2022

P. N. Ray

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678247

27 October 2022

language of work or name

English

0 references

publication date

1 August 1991

1 reference

7 August 2017

number of pages

9

1 reference

full work available at URL

inferred from page(s)

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1678247/pdf/?tool=EBI

file format

Portable Document Format

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678247

https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/1678247/?tool=EBI

27 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678247

https://europepmc.org/articles/PMC1683291

27 October 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678247

https://europepmc.org/articles/PMC1683291?pdf=render

27 October 2022

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1678247

American Journal of Human Genetics

27 October 2022

published in

1 reference

7 August 2017

volume

49

1 reference

7 August 2017

issue

2

1 reference

7 August 2017

page(s)

289-297

1 reference

Isolation of a genomic clone partially encoding human hypoxanthine phosphoribosyltransferase

7 August 2017

cites work

1 reference

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Deletion and amplification of the HGPRT locus in Chinese hamster cells

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Hunter's disease in a girl: association with X:5 chromosomal translocation disrupting the Hunter gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Mammalian X-chromosome inactivation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Cytologic and molecular analysis of 46,XXq- cells to identify a DNA segment that might serve as a probe for a putative human X chromosome inactivation center.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Hemizygous expression of glucose-6-phosphate dehydrogenase in erythrocytes of heterozygotes for the Lesch-Nyhan syndrome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Cytogenetic and molecular studies on a recombinant human X chromosome: implications for the spreading of X chromosome inactivation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

The telomeric region of the human X chromosome long arm: presence of a highly polymorphic DNA marker and analysis of recombination frequency

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Isolation and characterization of a human variable copy number tandem repeat at Xcen-p11.22.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Further evidence localising the gene for Hunter's syndrome to the distal region of the X chromosome long arm

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Differential methylation of the hypervariable locus DXS255 on active and inactive X chromosomes correlates with the expression of a human X-linked gene.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Hunter syndrome: isolation of an iduronate-2-sulfatase cDNA clone and analysis of patient DNA

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Hunter disease (mucopolysaccharidosis type II) in a karyotypically normal girl.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Detection of specific sequences among DNA fragments separated by gel electrophoresis

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Improved techniques for the induction of mammalian cell hybridization by polyethylene glycol

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Position of the human X inactivation center on Xq

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Juvenile sandhoff disease: Complementation tests with Sandhoff and Tay-Sachs disease using polyethylene glycol-induced cell fusion

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

X-linked Hunter syndrome: the heterozygous phenotype in cell culture

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Analysis of genetic complementation by whole-cell microtechniques in fibroblast heterokaryons

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

46 Enzymic diagnosis of the genetic mucopolysaccharide storage disorders

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683291

In vitro selection for the Hunter gene

13 July 2018

1 reference

12 December 2020

Iduronate sulfatase from human plasma

1 reference

12 December 2020

Wiskott-Aldrich syndrome: cellular impairments and their implication for carrier detection

1 reference

12 December 2020

Abnormal X chromosomes in man: Origin, behavior and effects

1 reference

12 December 2020

Reliability of the Booth-Nadler technique for the detection of Hunter heterozygotes

1 reference

12 December 2020

Carrier detection in Hunter syndrome

1 reference

12 December 2020

Genetics of Hunter syndrome: carrier detection, new mutations, segregation and linkage analysis

1 reference

12 December 2020

Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation

1 reference

12 December 2020

X-chromosome inactivation in the Wiskott-Aldrich syndrome: a marker for detection of the carrier state and identification of cell lineages expressing the gene defect

1 reference

12 December 2020

Expression of the gene defect in X-linked agammaglobulinemia

1 reference

12 December 2020

More precise localization of the gene for Hunter syndrome

1 reference

12 December 2020

Unusual X chromosome inactivation in a mentally retarded girl with an interstitial deletion Xq27: implications for the fragile X syndrome

1 reference

12 December 2020

Complementation analysis in Gaucher disease using single cell microassay techniques. Evidence for a single "Gaucher gene"

1 reference

12 December 2020

Biochemical variability of arylsulphatases‐A,‐B and‐C in cultured fibroblasts from patients with multiple sulphatase deficiency

1 reference

12 December 2020

Non-selective isolation of human somatic cell hybrids by unit-gravity sedimentation

1 reference

12 December 2020

Identifiers

PMC publication ID

1683291

1 reference

7 August 2017

1 reference