RepeatDx
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Peer Reviewed Publications
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
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)
14 years ago
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)
17 years ago
Peer Reviewed Publications
Telomerase mutations in families with idiopathic pulmonary fibrosis. Armanios, M. Y. et al. Engl J Med 356, 1317-26 (2007)
18 years ago
Peer Reviewed Publications
Very short telomere length by flow FISH identifies patients with Dyskeratosis Congenita. Alter,B. P. et al. Blood (2007)
18 years ago
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)
18 years ago
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