(Q35989413)

11 August 2017

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

1 reference

11 August 2017

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3

Sharon A Savage

1 reference

11 August 2017

4

Stephen J Chanock

1 reference

11 August 2017

Blanche P Alter

1

1 reference

11 August 2017

Gabriela M Baerlocher

2

1 reference

11 August 2017

Babette B Weksler

5

1 reference

11 August 2017

Judith P Willner

6

1 reference

11 August 2017

June A Peters

7

1 reference

11 August 2017

Neelam Giri

8

1 reference

11 August 2017

Peter M Lansdorp

9

1 reference

11 August 2017

language of work or name

English

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publication date

27 April 2007

1 reference

11 August 2017

1 reference

11 August 2017

110

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11 August 2017

5

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11 August 2017

1439-1447

1 reference

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

11 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

Natural gene therapy in monozygotic twins with Fanconi anemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

Major cutbacks at chromosome ends

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

Mutations in SBDS are associated with Shwachman-Diamond syndrome

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

Telomeres in T and B cells

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

Shwachman-Diamond syndrome: report from an international conference

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

Telomerase in the human organism

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

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

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

Dyskeratosis congenita in all its forms

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

A telomerase component is defective in the human disease dyskeratosis congenita

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

Telomere stability is frequently impaired in high-risk groups of patients with myelodysplastic syndromes

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

Evidence for a mitotic clock in human hematopoietic stem cells: loss of telomeric DNA with age.

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

Progressive telomere shortening in aplastic anemia

2 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

Telomere length changes in patients with aplastic anaemia

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

Accelerated telomere shortening in hematological lineages is limited to the first year following stem cell transplantation.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1975834

Abnormal telomere shortening in leucocytes of children with Shwachman-Diamond syndrome

5 December 2018

1 reference

12 December 2020

Severe telomere shortening in patients with paroxysmal nocturnal hemoglobinuria affects both GPI- and GPI+ hematopoiesis

1 reference

12 December 2020

Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNA

1 reference

12 December 2020

Accelerated telomere shortening and telomerase activation in Fanconi's anaemia

1 reference

12 December 2020

Treatment of dyskeratosis congenita with granulocyte colony-stimulating factor and erythropoietin

1 reference

12 December 2020

Retroviral mediated gene transfer of the Fanconi anemia complementation group C gene to hematopoietic progenitors of group C patients

1 reference

12 December 2020

Unusual complications after bone marrow transplantation for dyskeratosis congenita

1 reference

12 December 2020

Fanconi anemia: adult head and neck cancer and hematopoietic mosaicism

1 reference

12 December 2020

Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentation

1 reference

12 December 2020

Intensive immunosuppression therapy for aplastic anemia associated with dyskeratosis congenita

1 reference

12 December 2020

Telomere length in leukocyte subpopulations of patients with aplastic anemia

1 reference

12 December 2020

10.1182/BLOOD-2007-02-075598

Identifiers

DOI

1 reference

11 August 2017

1 reference

11 August 2017

PubMed publication ID

17468339

1 reference