PMC Articles for MedGen (Select 338831) - PMC

Select item 12761041.

Haploinsufficiency of telomerase reverse transcriptase leads to anticipation in autosomal dominant dyskeratosis congenita

Mary Armanios, Jiunn-Liang Chen, Yen-Pei Christy Chang, Robert A. Brodsky, Anita Hawkins, Constance A. Griffin, James R. Eshleman, Alan R. Cohen, Aravinda Chakravarti, Ada Hamosh, Carol W. Greider

Proc Natl Acad Sci U S A. 2005 Nov 1; 102(44): 15960–15964. Published online 2005 Oct 24. doi: 10.1073/pnas.0508124102

PMCID:: PMC1276104

Article PDF–423K

Select item 38251002.

The Genetics and Clinical Manifestations of Telomere Biology Disorders

Sharon A. Savage, Alison A. Bertuch

Genet Med. Author manuscript; available in PMC 2013 Nov 12.

Published in final edited form as: Genet Med. 2010 Dec; 12(12): 10.1097/GIM.0b013e3181f415b5. doi: 10.1097/GIM.0b013e3181f415b5

PMCID:: PMC3825100

Article PDF–1.4M

Select item 28927753.

Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations

Anna Marrone, Priya Sokhal, Amanda Walne, Richard Beswick, Michael Kirwan, Sally Killick, Mike Williams, Judith Marsh, Tom Vulliamy, Inderjeet Dokal

Haematologica. Author manuscript; available in PMC 2010 Jun 28.

Published in final edited form as: Haematologica. 2007 Aug; 92(8): 1013–1020. Published online 2007 Jul 20. doi: 10.3324/haematol.11407

PMCID:: PMC2892775

Article PDF–771K

Select item 25833934.

Telomerase reverse transcriptase haploinsufficiency and telomere length in individuals with 5p– syndrome

Hong-Yan Du, Rachel Idol, Sara Robledo, Jennifer Ivanovich, Ping An, Arturo Londono-Vallejo, David B Wilson, Philip J Mason, Monica Bessler

Aging Cell. 2007 Oct 1; 6(5): 689–697. doi: 10.1111/j.1474-9726.2007.00324.x

PMCID:: PMC2583393

Article PDF–245K

Select item 22147495.

Complex inheritance pattern of dyskeratosis congenita in two families with 2 different mutations in the telomerase reverse transcriptase gene

Hong-Yan Du, Elena Pumbo, Peter Manley, Joshua J. Field, Susan J. Bayliss, David B. Wilson, Philip J. Mason, Monica Bessler

Blood. 2008 Feb 1; 111(3): 1128–1130. Prepublished online 2007 Nov 27. doi: 10.1182/blood-2007-10-120907

PMCID:: PMC2214749

Article

Select item 13704996.

YNMG tetraloop formation by a dyskeratosis congenita mutation in human telomerase RNA

CARLA A. THEIMER, L. DAVID FINGER, JULI FEIGON

RNA. 2003 Dec; 9(12): 1446–1455. doi: 10.1261/rna.5152303

PMCID:: PMC1370499

Article PDF–496K

Select item 12879817.

The effect of TERC haploinsufficiency on the inheritance of telomere length

Fred Goldman, Rachida Bouarich, Shashikant Kulkarni, Sara Freeman, Hong-Yan Du, Lea Harrington, Philip J. Mason, Arturo Londoño-Vallejo, Monica Bessler

Proc Natl Acad Sci U S A. 2005 Nov 22; 102(47): 17119–17124. Published online 2005 Nov 11. doi: 10.1073/pnas.0505318102

PMCID:: PMC1287981

Article PDF–513K

Select item 1410158.

Mutations linked to dyskeratosis congenita cause changes in the structural equilibrium in telomerase RNA

Carla A. Theimer, L. David Finger, Lukas Trantirek, Juli Feigon

Proc Natl Acad Sci U S A. 2003 Jan 21; 100(2): 449–454. Published online 2003 Jan 13. doi: 10.1073/pnas.242720799

PMCID:: PMC141015

Article PDF–543K

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