(Q33678095)

28 July 2017

Fine mapping of the dyskeratosis congenita locus in Xq28. (English)

1 reference

28 July 2017

dyskeratosis congenita

1 reference

Knight SW

1

1 reference

28 July 2017

Vulliamy T

2

1 reference

28 July 2017

Forni GL

3

1 reference

28 July 2017

Oscier D

4

1 reference

28 July 2017

Mason PJ

5

1 reference

28 July 2017

Dokal I

6

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 December 1996

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

33

1 reference

28 July 2017

993-995

1 reference

28 July 2017

12

1 reference

Cloning of a gene encoding a DNase I-like endonuclease in the human Xq28 region.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050808

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=1050808

The melanoma antigen gene (MAGE) family is clustered in the chromosomal band 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=1050808

A muscle-specific DNase I-like gene in human 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=1050808

Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050808

Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and 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=1050808

Dyskeratosis congenita: three additional families show linkage to a 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=1050808

X linked myotubular myopathy (MTM1) maps between DXS304 and DXS305, closely linked to the DXS455 VNTR and a new, highly informative microsatellite marker (DXS1684)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050808

Dyskeratosis congenita is a chromosomal instability disorder

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050808

Molecular characterization of QM, a novel gene with properties consistent with tumor suppressor function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050808

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=1050808

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050808

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=1050808

Rapid PCR analysis of the St14 (DXS52) VNTR

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050808

Dinucleotide repeat polymorphism in the human X-linked GABAA receptor alpha 3-subunit gene

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050808

Identification of a second pseudoautosomal region near the Xq and Yq telomeres

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050808

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=1050808

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=1050808

Dinucleotide repeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050808

Dyskeratosis congenita fibroblasts are abnormal and have unbalanced chromosomal rearrangements

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9004129

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

DNA in heritable disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9004129

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Assignment of the gene for dyskeratosis congenita to Xq28

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/9004129

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.33.12.993

1 reference

28 July 2017

1 reference

28 July 2017

1 reference