ALISON BERTUCH to Dyskeratosis Congenita
This is a "connection" page, showing publications ALISON BERTUCH has written about Dyskeratosis Congenita.
Connection Strength
3.150
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From incomplete penetrance with normal telomere length to severe disease and telomere shortening in a family with monoallelic and biallelic PARN pathogenic variants. Hum Mutat. 2019 12; 40(12):2414-2429.
Score: 0.646
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Short telomeres: from dyskeratosis congenita to sporadic aplastic anemia and malignancy. Transl Res. 2013 Dec; 162(6):353-63.
Score: 0.418
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A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome. Blood. 2013 May 02; 121(18):3586-93.
Score: 0.413
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Dyskeratosis congenita as a disorder of telomere maintenance. Mutat Res. 2012 Feb 01; 730(1-2):43-51.
Score: 0.366
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Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood. Clin Genet. 2012 May; 81(5):470-8.
Score: 0.360
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Editing TINF2 as a potential therapeutic approach to restore telomere length in dyskeratosis congenita. Blood. 2022 08 11; 140(6):608-618.
Score: 0.198
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Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. J Pediatr. 2021 03; 230:55-61.e4.
Score: 0.173
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Similar telomere attrition rates in androgen-treated and untreated patients with dyskeratosis congenita. Blood Adv. 2018 06 12; 2(11):1243-1249.
Score: 0.148
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The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion. Mol Cell Biol. 2018 06 15; 38(12).
Score: 0.148
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Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders. Eur Respir J. 2017 01; 49(1).
Score: 0.135
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The molecular genetics of the telomere biology disorders. RNA Biol. 2016 08 02; 13(8):696-706.
Score: 0.123
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A role for heterochromatin protein 1? at human telomeres. Genes Dev. 2011 Sep 01; 25(17):1807-19.
Score: 0.023