Human Genome Epidemiology Literature Finder
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Records 1 - 9 (of 9 Records) |
| Query Trace: Dyskeratosis Congenita and TINF2[original query] |
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| TINF2 mutations result in very short telomeres: analysis of a large cohort of patients with dyskeratosis congenita and related bone marrow failure syndromes. Blood 2008 Nov 112 (9): 3594-600. Walne Amanda J, Vulliamy Tom, Beswick Richard, Kirwan Michael, Dokal Inderje |
| Sequence analysis of the shelterin telomere protection complex genes in dyskeratosis congenita. Journal of medical genetics 2011 1 48 (4): 285-8. Savage Sharon A, Giri Neelam, Jessop Lea, Pike Kristen, Plona Teri, Burdett Laurie, Alter Blanche |
| Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita. Case reports in dermatology 0 7 (2): 212-9. Panichareon Benjaporn, Seedapan Thanawat, Thongnoppakhun Wanna, Limwongse Chanin, Pithukpakorn Manop, Limjindaporn Thawornch |
| [Genotype analysis and telomere length measure in patients with dyskeratosis congenita]. Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 2015 Feb 23 (1): 212-6. Zhang Jia-Yuan, An Wen-Bin, Zhang Li, Chang Li-Xian, Qi Ben-Quan, Liu Tian-Feng, Liu Fang, Yang Wen-Yu, Guo Ye, Zhu Xiao-F |
| Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder. ERJ open research 2019 11 5 (4): . Giri Neelam, Ravichandran Sandhiya, Wang Youjin, Gadalla Shahinaz M, Alter Blanche P, Fontana Joseph, Savage Sharon |
| Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders. The Journal of pediatrics 2020 9 230 55-61.e4. Himes Ryan W, Chiou Eric H, Queliza Karen, Shouval Dror S, Somech Raz, Agarwal Suneet, Jajoo Kunal, Ziegler David S, Kratz Christian P, Huang James, Lucas Tiffany L, Myers Kasiani C, Nelson Adam S, DiNardo Courtney D, Alter Blanche P, Giri Neelam, Khincha Payal P, McReynolds Lisa J, Dufour Carlo, Pierri Filomena, Goldman Frederick D, Sherif Youmna, Savage Sharon A, Miloh Tamir, Bertuch Alison |
| Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review. BMC pulmonary medicine 2021 9 21 (1): 279. Wang Ping, Xu Zuoj |
| Disease progression and clinical outcomes in telomere biology disorders. Blood 2021 12 139 (12): 1807-1819. Niewisch Marena R, Giri Neelam, McReynolds Lisa J, Alsaggaf Rotana, Bhala Sonia, Alter Blanche P, Savage Sharon |
| Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility. Familial cancer 2022 May . Koivuluoma Susanna, Vorimo Sandra, Mattila Tiina M, Tervasmäki Anna, Kumpula Timo, Kuismin Outi, Winqvist Robert, Moilanen Jukka, Mantere Tuomo, Pylkäs Kat |
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