PMC Links for OMIM (Select 615190) - PMC - NCBI

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Items: 4

Select item 37675601.

Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal–Hreidarsson syndrome

Zhong Deng, Galina Glousker, Aliah Molczan, Alan J. Fox, Noa Lamm, Jayaraju Dheekollu, Orr-El Weizman, Michael Schertzer, Zhuo Wang, Olga Vladimirova, Jonathan Schug, Memet Aker, Arturo Londoño-Vallejo, Klaus H. Kaestner, Paul M. Lieberman, Yehuda Tzfati

Proc Natl Acad Sci U S A. 2013 Sep 3; 110(36): E3408–E3416. Published online 2013 Aug 19. doi: 10.1073/pnas.1300600110

PMCID:: PMC3767560

Abstract Article PDF–1.4M

Select item 36001102.

Germline Mutations of Regulator of Telomere Elongation Helicase 1, RTEL1, In Dyskeratosis Congenita

Bari J. Ballew, Meredith Yeager, Kevin Jacobs, Neelam Giri, Joseph Boland, Laurie Burdett, Blanche P. Alter, Sharon A. Savage

Hum Genet. Author manuscript; available in PMC 2014 Apr 1.

Published in final edited form as: Hum Genet. 2013 Apr; 132(4): 473–480. Published online 2013 Jan 18. doi: 10.1007/s00439-013-1265-8

PMCID:: PMC3600110

Abstract Article PDF–1.2M

Select item 35918593.

Constitutional Mutations in RTEL1 Cause Severe Dyskeratosis Congenita

Amanda J. Walne, Tom Vulliamy, Michael Kirwan, Vincent Plagnol, Inderjeet Dokal

Am J Hum Genet. 2013 Mar 7; 92(3): 448–453. doi: 10.1016/j.ajhg.2013.02.001

PMCID:: PMC3591859

Abstract Article PDF–422K

Select item 26809524.

Diminished Telomeric 3′ Overhangs Are Associated with Telomere Dysfunction in Hoyeraal-Hreidarsson Syndrome

Noa Lamm, Elly Ordan, Rotem Shponkin, Carmelit Richler, Memet Aker, Yehuda Tzfati

PLoS One. 2009; 4(5): e5666. Published online 2009 May 22. doi: 10.1371/journal.pone.0005666

PMCID:: PMC2680952

Abstract Article PDF–1.7M

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