RepeatDx

Response to androgen therapy in patients with dyskeratosis congenita. Khincha PP, Wentzensen IM, Giri N, Alter BP, Savage SA. Br J Haematol. 2014 May;165(3):349-57

11 years ago

Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC). Williams DA, Bennett C, Bertuch A, Bessler M, et al. Pediatr Blood Cancer. 2014 May;61(5):869-74

11 years ago

6-panel TLM Assay Diagnostic Test of Choice in Identifying Ppatients with Dyskeratosis Congenita

Repeat Diagnostics’ 6-Panel telomere assay, is the diagnostic test of choice in identifying patients with Dyskeratosis Congenita (DC), an inherited…

11 years ago

Paroxysmal nocturnal haemoglobinuria phenotype cells and leucocyte subset telomere length in childhood acquired aplastic anaemia. Tutelman PR, Aubert G, Milner RA, Dalal BI, Schultz KR, Deyell RJ. Br J Haematol. 2014 Mar;164(5):717-21

11 years ago

Gender and telomere length: systematic review and meta-analysis. Gardner M, Bann D, Wiley L, Cooper R, et al. Exp Gerontol. 2014 Mar;51:15-27

11 years ago

Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Ballew,B.J. et al. Hum Genet 132:473–480 (2013)

12 years ago

Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. Parry, E.M. et al. J Med Genet. (2011)

14 years ago

TINF2, a Component of the Shelterin Telomere Protection Complex, is Mutated in Dyskeratosis Congenita. Savage S.S.,Giri N, Baerlocher, G.M., Orr, N., Lansdorp P.M., and Alter, B.P. . J.Hum. Gen. 82(2): 501-9 (2008)

17 years ago

Telomerase mutations in families with idiopathic pulmonary fibrosis. Armanios, M. Y. et al. Engl J Med 356, 1317-26 (2007)

18 years ago

Very short telomere length by flow FISH identifies patients with Dyskeratosis Congenita. Alter,B. P. et al. Blood (2007)

18 years ago
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