(Q33416762)

26 July 2017

title

Dyskeratosis congenita caused by a novel TERT point mutation in siblings with pancytopenia and exudative retinopathy (English)

1 reference

26 July 2017

1 reference

dyskeratosis congenita

1 reference

1 reference

Akshay Sharma

1

1 reference

26 July 2017

Kasiani Myers

series ordinal

2

1 reference

26 July 2017

Zhan Ye

series ordinal

3

1 reference

26 July 2017

John D'Orazio

series ordinal

4

1 reference

26 July 2017

publication date

25 July 2014

1 reference

26 July 2017

published in

Pediatric Blood & Cancer

1 reference

26 July 2017

volume

61

1 reference

26 July 2017

issue

12

1 reference

26 July 2017

page(s)

2302-2304

1 reference

Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy

26 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=4205177

Telomere shortening in human diseases

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

The genetics of dyskeratosis congenita

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

A method and server for predicting damaging missense mutations

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

Ocular and orbital manifestations of the inherited bone marrow failure syndromes: Fanconi anemia and dyskeratosis congenita

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

Telomeres and marrow failure

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

TINF2, a component of the shelterin telomere protection complex, is mutated in dyskeratosis congenita

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

Dyskeratosis congenita: a genetic disorder of many faces

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

Flow cytometry and FISH to measure the average length of telomeres (flow FISH).

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

The effect of TERC haploinsufficiency on the inheritance of telomere length

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

Mutations in the reverse transcriptase component of telomerase (TERT) in patients with bone marrow failure

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

Bilateral coats retinopathy associated with aplastic anaemia and mild dyskeratotic signs

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

Bilateral retinopathy, aplastic anaemia, and central nervous system abnormalities: a new syndrome?

14 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4205177

Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC.

14 July 2018

1 reference

Association of the congenital bone marrow failure syndromes with retinopathy, intracerebral calcification and progressive neurological impairment

21 January 2018

1 reference

Bilateral retinal vasculopathy associated with autosomal dominant dyskeratosis congenita

21 January 2018

1 reference

21 January 2018

Dyskeratosis congenita

1 reference

21 January 2018

Identifiers

DOI

10.1002/PBC.25161

1 reference

26 July 2017

1 reference

26 July 2017

1 reference