Associated Papers
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
Tummala H et al.
Embo Molecular Medicine, 2024
39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1
de Novo TINF2 C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita.
Kocheva SA et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.
Amir M et al.
Cells, 2020
[Clinical and genetic features of dyskeratosis congenital with bone marrow failure in eight patients].
Wan Y et al.
Zhonghua Xue Ye Xue Za Zhi = Zhonghua Xueyexue Zazhi, 2016
[Genotype analysis and telomere length measure in patients with dyskeratosis congenita].
Zhang JY et al.
Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2015
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
Sasa GS et al.
Clinical Genetics, 2012
Telomere length measurement can distinguish pathogenic from non-pathogenic variants in the shelterin component, TIN2.
Vulliamy T et al.
Clinical Genetics, 2012
A role for heterochromatin protein 1γ at human telomeres.
Canudas S et al.
Genes & Development, 2011
Identification of TINF2 gene mutations in adult Japanese patients with acquired bone marrow failure syndromes.
Yamaguchi H et al.
British Journal of Haematology, 2010
Telomere dysfunction in human diseases: the long and short of it!
Carroll KA et al.
International Journal of Clinical and Experimental Pathology, 2009
TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes.
Walne AJ et al.
Blood, 2008
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