Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita. Ballew,B.J. et al. Hum Genet 132:473–480 (2013) January 18, 2013May 3, 2017 | by RepeatDx | Posted in: Peer Reviewed Publications
Decreased dyskerin levels as a mechanism of telomere shortening in X-linked dyskeratosis congenita. Parry, E.M. et al. J Med Genet. (2011) January 19, 2011May 3, 2017 | by RepeatDx | Posted in: Peer Reviewed Publications
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) February 19, 2008May 3, 2017 | by RepeatDx | Posted in: Peer Reviewed Publications
Telomerase mutations in families with idiopathic pulmonary fibrosis. Armanios, M. Y. et al. Engl J Med 356, 1317-26 (2007) March 19, 2007May 3, 2017 | by RepeatDx | Posted in: Peer Reviewed Publications
Very short telomere length by flow FISH identifies patients with Dyskeratosis Congenita. Alter,B. P. et al. Blood (2007) February 19, 2007May 3, 2017 | by RepeatDx | Posted in: Peer Reviewed Publications
Longitudinal data on telomere length in leukocytes from newborn baboons support a marked drop in stem cell turnover around 1 year of age. G. M., Rice, K., Vulto, I. & Lansdorp, P. M. Aging Cell 6, 121-3 (2007) February 19, 2007May 3, 2017 | by RepeatDx | Posted in: Peer Reviewed Publications
