(Q33681668)

28 July 2017

title

1.4 Mb candidate gene region for X linked dyskeratosis congenita defined by combined haplotype and X chromosome inactivation analysis (English)

1 reference

28 July 2017

main subject

dyskeratosis congenita

1 reference

S W Knight

1

1 reference

28 July 2017

T J Vulliamy

2

1 reference

28 July 2017

N S Heiss

3

1 reference

28 July 2017

G Matthijs

4

1 reference

28 July 2017

K Devriendt

5

1 reference

28 July 2017

J M Connor

6

1 reference

28 July 2017

M D'Urso

7

1 reference

28 July 2017

A Poustka

8

1 reference

28 July 2017

P J Mason

9

1 reference

28 July 2017

I Dokal

10

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 December 1998

1 reference

Journal of Medical Genetics

28 July 2017

published in

1 reference

28 July 2017

volume

35

1 reference

28 July 2017

issue

12

1 reference

28 July 2017

page(s)

993-996

1 reference

Skewed X-chromosome inactivation in female carriers of dyskeratosis congenita

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=1051510

Fine mapping of the dyskeratosis congenita locus in Xq28.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051510

Transcriptional analysis of the candidate region for incontinentia pigmenti (IP2) in Xq28.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051510

Transcription mapping in a 700-kb region around the DXS52 locus in Xq28: isolation of six novel transcripts and a novel ATPase isoform (hPMCA5)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051510

Long-range sequence analysis in Xq28: thirteen known and six candidate genes in 219.4 kb of high GC DNA between the RCP/GCP and G6PD loci

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051510

Dyskeratosis congenita: an inherited bone marrow failure 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=1051510

Strategies for multilocus linkage analysis in humans

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051510

Origin and spread of the glucose-6-phosphate dehydrogenase variant (G6PD-Mediterranean) in the Middle East

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051510

Dyskeratosis congenita: clinical and genetic heterogeneity. Report of a new case and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051510

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=1051510

Dyskeratosis congenita: clinical features and genetic aspects. Report of a family and review of the literature

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051510

X-linked Dyskeratosis Congenita With Pancytopenia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051510

Nonrandom X-chromosome inactivation in hemopoietic cells from carriers of dyskeratosis congenita

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051510

Skewed X-inactivation in carriers of X-linked dyskeratosis congenita.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051510

Genetic control of X inactivation and processes leading to X-inactivation skewing.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051510

The sequence organization of the long arm pseudoautosomal region of the human sex chromosomes.

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051510

G6PD haplotypes spanning Xq28 from F8C to red/green color vision

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9863595

12 December 2020

inferred from PubMed ID database lookup

DNA in heritable disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9863595

12 December 2020

inferred from PubMed ID database lookup

Assignment of the gene for dyskeratosis congenita to Xq28

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9863595

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1136/JMG.35.12.993

1 reference

release_dnwfvfs5pzcxrgjvvohhlposya

28 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/dnwfvfs5pzcxrgjvvohhlposya

24 November 2022

mapped directly with Wikidata item

PMC publication ID

1051510

1 reference

28 July 2017

1 reference