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Items: 6

1.
Disease progression and clinical outcomes in telomere biology disorders
Marena R. Niewisch, Neelam Giri, Lisa J. McReynolds, Rotana Alsaggaf, Sonia Bhala, Blanche P. Alter, Sharon A. Savage
Blood. 2022 Mar 24; 139(12): 1807–1819. doi: 10.1182/blood.2021013523
PMCID:
PMC8952184
AbstractArticle
2.
A unique homozygous WRAP53 Arg298Trp mutation underlies dyskeratosis congenita in a Chinese Han family
Yingqi Shao, Sizhou Feng, Jinbo Huang, Jiali Huo, Yahong You, Yizhou Zheng
BMC Med Genet. 2018; 19: 40. Published online 2018 Mar 7. doi: 10.1186/s12881-018-0549-1
PMCID:
PMC5842585
AbstractArticlePDF–1.3M
3.
C16orf57, a gene mutated in poikiloderma with neutropenia, encodes a putative phosphodiesterase responsible for the U6 snRNA 3′ end modification
Seweryn Mroczek, Joanna Krwawicz, Jan Kutner, Michal Lazniewski, Iwo Kuciński, Krzysztof Ginalski, Andrzej Dziembowski
Genes Dev. 2012 Sep 1; 26(17): 1911–1925. doi: 10.1101/gad.193169.112
PMCID:
PMC3435495
AbstractArticlePDF–2.5M
4.
Telomerase reverse-transcriptase homozygous mutations in autosomal recessive dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome
Anna Marrone, Amanda Walne, Hannah Tamary, Yuka Masunari, Michael Kirwan, Richard Beswick, Tom Vulliamy, Inderjeet Dokal
Blood. Author manuscript; available in PMC 2010 Jun 8.
Published in final edited form as: Blood. 2007 Dec 15; 110(13): 4198–4205. Published online 2007 Sep 4. doi: 10.1182/blood-2006-12-062851
PMCID:
PMC2882230
AbstractArticlePDF–1.3M
5.
Rothmund-Thomson syndrome
Lidia Larizza, Gaia Roversi, Ludovica Volpi
Orphanet J Rare Dis. 2010; 5: 2. Published online 2010 Jan 29. doi: 10.1186/1750-1172-5-2
PMCID:
PMC2826297
AbstractArticlePDF–755K
6.
Enhanced G2 chromatid radiosensitivity in dyskeratosis congenita fibroblasts.
D M DeBauche, G S Pai, W S Stanley
Am J Hum Genet. 1990 Feb; 46(2): 350–357.
PMCID:
PMC1684970
SummaryPage BrowsePDF–1.0M

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