(Q28112103)

1

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Philip S Rosenberg

2

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Neelam Giri

3

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Gabriela M Baerlocher

4

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Peter M Lansdorp

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

5

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language of work or name

English

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publication date

March 2012

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published in

Haematologica

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volume

97

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issue

3

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page(s)

353-9

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

Pathophysiology and management of inherited bone marrow failure syndromes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

How telomeres solve the end-protection problem

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

Cancer in dyskeratosis congenita

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

Leukocyte telomere dynamics: longitudinal findings among young adults in the Bogalusa Heart Study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

Short telomeres are a risk factor for idiopathic pulmonary fibrosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

Dyskeratosis congenita in all its forms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

29 September 2017

Dyskeratosis congenita

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3291588

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

27 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22058220

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Severe aplastic anemia: a prospective study of the effect of early marrow transplantation on acute mortality

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22058220

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22058220

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.3324/HAEMATOL.2011.055269

1 reference

1 reference

1 reference

PubMed publication ID

22058220

1 reference