(Q37337645)

19 August 2017

Dyskeratosis congenita: the first NIH clinical research workshop (English)

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19 August 2017

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dyskeratosis congenita

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10

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19 August 2017

Sharon A Savage

1

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Mary Armanios

3

object named as

Mary Armanios

1 reference

19 August 2017

Inderjeet Dokal

2

1 reference

19 August 2017

Geraldine Aubert

4

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19 August 2017

Edward W Cowen

5

1 reference

19 August 2017

Demetrio L Domingo

6

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19 August 2017

Neelam Giri

7

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19 August 2017

Mark H Greene

8

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19 August 2017

Paul J Orchard

9

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19 August 2017

Ekaterini Tsilou

11

1 reference

19 August 2017

Carter Van Waes

12

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19 August 2017

Judy M Y Wong

13

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19 August 2017

Neal S Young

14

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19 August 2017

Blanche P Alter

15

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19 August 2017

language of work or name

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1 September 2009

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19 August 2017

Pediatric Blood & Cancer

1 reference

19 August 2017

53

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19 August 2017

3

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19 August 2017

520-523

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Oral and dental phenotype of dyskeratosis congenita

19 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Mutations in the telomerase component NHP2 cause the premature ageing syndrome dyskeratosis congenita

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

The role of telomere biology in bone marrow failure and other disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Dyskeratosis Congenita: a historical perspective

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Adult-onset pulmonary fibrosis caused by mutations in telomerase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Telomerase mutations in families with idiopathic pulmonary fibrosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Telomerase RNA level limits telomere maintenance in X-linked dyskeratosis congenita

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Dyskeratosis congenita: a disorder of defective telomere maintenance?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Very short telomeres in the peripheral blood of patients with X-linked and autosomal dyskeratosis congenita

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

A telomerase component is defective in the human disease dyskeratosis congenita

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Fine mapping of the dyskeratosis congenita locus in Xq28.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Heterozygous telomerase RNA mutations found in dyskeratosis congenita and aplastic anemia reduce telomerase activity via haploinsufficiency

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Splenic peliosis and rupture in patients with dyskeratosis congenita on androgens and granulocyte colony-stimulating factor

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Dyskeratosis Congenita (DC) Registry: identification of new features of DC.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2739803

Association between aplastic anaemia and mutations in telomerase RNA

2 September 2018

1 reference

12 December 2020

Mutations of the human telomerase RNA gene (TERC) in aplastic anemia and myelodysplastic syndrome

1 reference

12 December 2020

Assignment of the gene for dyskeratosis congenita to Xq28

1 reference

12 December 2020

Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita

1 reference

12 December 2020

Identifiers

DOI

10.1002/PBC.22061

1 reference

19 August 2017

1 reference

19 August 2017

PubMed publication ID

19415736

1 reference