Human Genome Epidemiology Literature Finder
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Records 1 - 10 (of 10 Records) |
| Query Trace: Syndrome and TERC[original query] |
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| Mutations in the SBDS gene in acquired aplastic anemia. Blood 2007 Aug 110 (4): 1141-6. Calado Rodrigo T, Graf Solomon A, Wilkerson Keisha L, Kajigaya Sachiko, Ancliff Philip J, Dror Yigal, Chanock Stephen J, Lansdorp Peter M, Young Neal |
| 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 |
| 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 |
Genome-wide meta-analysis points to CTC1 and ZNF676 as genes regulating telomere homeostasis in humans.
Human molecular genetics 2012 Dec 21 (24): 5385-94. Mangino Massimo, Hwang Shih-Jen, Spector Timothy D, Hunt Steven C, Kimura Masayuki, Fitzpatrick Annette L, Christiansen Lene, Petersen Inge, Elbers Clara C, Harris Tamara, Chen Wei, Srinivasan Sathanur R, Kark Jeremy D, Benetos Athanase, El Shamieh Said, Visvikis-Siest Sophie, Christensen Kaare, Berenson Gerald S, Valdes Ana M, Viñuela Ana, Garcia Melissa, Arnett Donna K, Broeckel Ulrich, Province Michael A, Pankow James S, Kammerer Candace, Liu Yongmei, Nalls Michael, Tishkoff Sarah, Thomas Fridtjof, Ziv Elad, Psaty Bruce M, Bis Joshua C, Rotter Jerome I, Taylor Kent D, Smith Erin, Schork Nicholas J, Levy Daniel, Aviv Abrah |
| Prevalence and characteristics of TERT and TERC mutations in suspected genetic pulmonary fibrosis. The European respiratory journal 2016 Dec 48 (6): 1721-1731. Borie Raphael, Tabèze Laure, Thabut Gabriel, Nunes Hilario, Cottin Vincent, Marchand-Adam Sylvain, Prevot Grégoire, Tazi Abdellatif, Cadranel Jacques, Mal Herve, Wemeau-Stervinou Lidwine, Bergeron Lafaurie Anne, Israel-Biet Dominique, Picard Clement, Reynaud Gaubert Martine, Jouneau Stephane, Naccache Jean-Marc, Mankikian Julie, Ménard Christelle, Cordier Jean-François, Valeyre Dominique, Reocreux Marion, Grandchamp Bernard, Revy Patrick, Kannengiesser Caroline, Crestani Bru |
| Genetic variants within telomere-associated genes, leukocyte telomere length and the risk of acute coronary syndrome in Czech women. Clinica chimica acta; international journal of clinical chemistry 2016 Jan 454 62-65. Dlouha Dana, Pitha Jan, Mesanyova Jana, Mrazkova Jolana, Fellnerova Adela, Stanek Vladimir, Lanska Vera, Hubacek Jaroslav |
| 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 |
| Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study. Respiration; international review of thoracic diseases 2022 1 101 (6): 531-543. Manali Effrosyni D, Kannengiesser Caroline, Borie Raphael, Ba Ibrahima, Bouros Demosthenes, Markopoulou Aikaterini, Antoniou Katerina, Kolilekas Lykourgos, Papaioannou Andriana I, Tzilas Vasileios, Tzouvelekis Argyrios, Daniil Zoe, Fouka Evangelia, Papakosta Despoina, Xyfteri Areti, Karakatsani Anna, Loukides Stylianos, Korbila Ioanna, Tomos Ioannis P, Konstantinidis Athanasios K, Gogali Athina, Steiropoulos Paschalis, Papanikolaou Ilias C, Bazaka Chrysa, Haritou Aggeliki, Vassilakopoulos Theodoros, Maniati Maria, Kagouridis Konstantinos, Markozannes Evangelos, Bouros Evangelos, Rampiadou Christina, Kounti Georgia, Trachalaki Athina, Dimeas Ilias, Karampitsakos Theodoros, Lyberopoulos Panagiotis, Malamadakis Nikolaos, Spyropoulou Sofia, Revy Patrick, Lainey Elodie, Dieudé Philippe, Rebah Khedidja, Ménard Christelle, Oudin Claire, Masson Cécile, Plessier Aurélie, Legendre Marie, Nathan Nadia, Coulomb-L'Hermine Aurore, Clement Annick, Amselem Serge, Boileau Catherine, Crestani Bruno, Papiris Spyros, |
| 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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