Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome (Q35195686)

7 August 2017

Characterization of a deletion at Xq27-q28 associated with unbalanced inactivation of the nonmutant X chromosome (English)

1 reference

7 August 2017

Clarke JT

1

1 reference

7 August 2017

Wilson PJ

2

1 reference

7 August 2017

Morris CP

3

1 reference

7 August 2017

Hopwood JJ

4

1 reference

7 August 2017

Richards RI

5

1 reference

7 August 2017

Sutherland GR

6

1 reference

7 August 2017

Ray PN

7

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 August 1992

1 reference

American Journal of Human Genetics

7 August 2017

1 reference

7 August 2017

51

1 reference

7 August 2017

2

1 reference

7 August 2017

316-322

1 reference

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

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

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=1682679

Multipoint genetic mapping of the Xq26-q28 region in families with fragile X mental retardation and in normal families reveals tight linkage of markers in q26-q27.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

Genetic analysis of the fragile-X mental retardation syndrome with two flanking polymorphic DNA markers

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

Report of the committee on the genetic constitution of the X chromosome

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

Assignment of anonymous DNA probes to specific intervals of human chromosomes 16 and X.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

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=1682679

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

Physical mapping of new DNA probes near the fragile X mutation (FRAXA) by using a panel of cell lines

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

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=1682679

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=1682679

Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

Fragile X genotype characterized by an unstable region of 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=1682679

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=1682679

New polymorphic DNA marker close to the fragile site FRAXA.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

Human N-acetylgalactosamine-4-sulphatase: protein maturation and isolation of genomic clones.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

Physical map of human Xq27-qter: localizing the region of the fragile X mutation

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter 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=1682679

Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes 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=1682679

Four chromosomal breakpoints and four new probes mark out a 10-cM region encompassing the fragile-X locus (FRAXA)

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682679

Do sequences in Xq27.3 play a role in X 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=1682679

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=1682679

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=1682679

Genetic mapping of new RFLPs at Xq27–q28

13 July 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1642233

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/1642233

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

PMCID

1682679

1 reference

7 August 2017

1 reference