Human Genome Epidemiology Literature Finder
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Records 1 - 13 (of 13 Records) |
| Query Trace: Dyskeratosis Congenita and TERC[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 |
| NOLA1 gene mutations in acquired aplastic anemia. Pediatric blood & cancer 2009 Mar 52 (3): 376-8. Pigullo Simona, Pavesi Elisa, Dianzani Irma, Santamaria Giuseppe, Svahn Johanna, Risso Marco, Van Lint Maria Teresa, Pillon Marta, Iori A P, Longoni Daniela, Ramenghi Ugo, Lanciotti Marina, Dufour Car |
| TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood 2009 Jan 113 (2): 309-16. Du Hong-Yan, Pumbo Elena, Ivanovich Jennifer, An Ping, Maziarz Richard T, Reiss Ulrike M, Chirnomas Deborah, Shimamura Akiko, Vlachos Adrianna, Lipton Jeffrey M, Goyal Rakesh K, Goldman Frederick, Wilson David B, Mason Philip J, Bessler Moni |
| Constitutional hypomorphic telomerase mutations in patients with acute myeloid leukemia. Proceedings of the National Academy of Sciences of the United States of America 2009 Jan 106 (4): 1187-92. Calado Rodrigo T, Regal Joshua A, Hills Mark, Yewdell William T, Dalmazzo Leandro F, Zago Marco A, Lansdorp Peter M, Hogge Donna, Chanock Stephen J, Estey Elihu H, Falcão Roberto P, Young Neal |
Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.
Proceedings of the National Academy of Sciences of the United States of America 2010 May 107 (20): 9293-8. Levy Daniel, Neuhausen Susan L, Hunt Steven C, Kimura Masayuki, Hwang Shih-Jen, Chen Wei, Bis Joshua C, Fitzpatrick Annette L, Smith Erin, Johnson Andrew D, Gardner Jeffrey P, Srinivasan Sathanur R, Schork Nicholas, Rotter Jerome I, Herbig Utz, Psaty Bruce M, Sastrasinh Malinee, Murray Sarah S, Vasan Ramachandran S, Province Michael A, Glazer Nicole L, Lu Xiaobin, Cao Xiaojian, Kronmal Richard, Mangino Massimo, Soranzo Nicole, Spector Tim D, Berenson Gerald S, Aviv Abrah |
| Constitutional telomerase mutations are genetic risk factors for cirrhosis. Hepatology (Baltimore, Md.) 2011 May 53 (5): 1600-7. Calado Rodrigo T, Brudno Jennifer, Mehta Paulomi, Kovacs Joseph J, Wu Colin, Zago Marco A, Chanock Stephen J, Boyer Thomas D, Young Neal |
| 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 |
| Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes. Orphanet journal of rare diseases 2019 4 14 (1): 82. Arias-Salgado Elena G, Galvez Eva, Planas-Cerezales Lurdes, Pintado-Berninches Laura, Vallespin Elena, Martinez Pilar, Carrillo Jaime, Iarriccio Laura, Ruiz-Llobet Anna, Catalá Albert, Badell-Serra Isabel, Gonzalez-Granado Luis I, Martín-Nalda Andrea, Martínez-Gallo Mónica, Galera-Miñarro Ana, Rodríguez-Vigil Carmen, Bastos-Oreiro Mariana, Perez de Nanclares Guiomar, Leiro-Fernández Virginia, Uria Maria-Luz, Diaz-Heredia Cristina, Valenzuela Claudia, Martín Sara, López-Muñiz Belén, Lapunzina Pablo, Sevilla Julian, Molina-Molina María, Perona Rosario, Sastre Leand |
| 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 |
| Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria. HemaSphere 2023 4 7 (5): e874. Mareike Tometten, Martin Kirschner, Robert Meyer, Matthias Begemann, Insa Halfmeyer, Margherita Vieri, Kim Kricheldorf, Angela Maurer, Uwe Platzbecker, Markus Radsak, Philippe Schafhausen, Selim Corbacioglu, Britta Höchsmann, C Matthias Wilk, Claas Hinze, Jörg Chromik, Michael Heuser, Michael Kreuter, Steffen Koschmieder, Jens Panse, Susanne Isfort, Ingo Kurth, Tim H Brümmendorf, Fabian Bei |
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- Page last updated:Dec 01, 2023
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