Very short telomere length by flow fluorescence in situ hybridization identifies patients with dyskeratosis congenita
Top Cited Papers
Open Access
- 1 September 2007
- journal article
- clinical trial
- Published by American Society of Hematology in Blood
- Vol. 110 (5) , 1439-1447
- https://doi.org/10.1182/blood-2007-02-075598
Abstract
Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome in which the known susceptibility genes (DKC1, TERC, and TERT) belong to theKeywords
This publication has 33 references indexed in Scilit:
- Natural gene therapy in monozygotic twins with Fanconi anemiaBlood, 2006
- Mutations in dyskeratosis congenita: their impact on telomere length and the diversity of clinical presentationBlood, 2006
- Major cutbacks at chromosome endsTrends in Biochemical Sciences, 2005
- Mutations inTERT,the Gene for Telomerase Reverse Transcriptase, in Aplastic AnemiaNew England Journal of Medicine, 2005
- Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERCNature Genetics, 2004
- Late presentation of dyskeratosis congenita as apparently acquired aplastic anaemia due to mutations in telomerase RNAThe Lancet, 2003
- Telomerase in the human organismOncogene, 2002
- Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p diseaseBlood, 2001
- Very Short Telomeres in the Peripheral Blood of Patients with X-Linked and Autosomal Dyskeratosis CongenitaBlood Cells, Molecules, and Diseases, 2001
- Retroviral Mediated Gene Transfer of the Fanconi Anemia Complementation Group C Gene to Hematopoietic Progenitors of Group C Patients. National Institutes of Health, Bethesda, MarylandHuman Gene Therapy, 1997