Human Genome Epidemiology Literature Finder
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Records 1 - 15 (of 15 Records) |
| Query Trace: Anemia and TERT[original query] |
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| Mutations in TERT, the gene for telomerase reverse transcriptase, in aplastic anemia. The New England journal of medicine 2005 Apr 352 (14): 1413-24. Yamaguchi Hiroki, Calado Rodrigo T, Ly Hinh, Kajigaya Sachiko, Baerlocher Gabriela M, Chanock Stephen J, Lansdorp Peter M, Young Neal |
| Mutations in telomerase catalytic protein in Japanese children with aplastic anemia. Haematologica 2006 May 91 (5): 656-8. Liang Juan, Yagasaki Hiroshi, Kamachi Yoshiro, Hama Asahito, Matsumoto Kimikazu, Kato Kouji, Kudo Kazuko, Kojima Sei |
| 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 |
| 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 |
| 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 |
| [Telomere length and telomerase mutations in peripheral blood leukocytes of children with chronic aplastic anemia]. Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2014 Apr 16 (4): 375-9. Wang Xi-Ge, Wang Xuan, Liu Song, Zhou Yu-Jie, Wang Dan-Fe |
| Severe hematologic complications after lung transplantation in patients with telomerase complex mutations. The Journal of heart and lung transplantation : the official publication of the International Society for Heart Transplantation 2015 Apr 34 (4): 538-46. Borie Raphael, Kannengiesser Caroline, Hirschi Sandrine, Le Pavec Jérôme, Mal Hervé, Bergot Emmanuel, Jouneau Stéphane, Naccache Jean-Marc, Revy Patrick, Boutboul David, Peffault de la Tour Régis, Wemeau-Stervinou Lidwine, Philit Francois, Cordier Jean-François, Thabut Gabriel, Crestani Bruno, Cottin Vincent, |
| Telomere biology and telomerase mutations in cirrhotic patients with hepatocellular carcinoma. PloS one 2017 12 (8): e0183287. Donaires Flávia S, Scatena Natália F, Alves-Paiva Raquel M, Podlevsky Joshua D, Logeswaran Dhenugen, Santana Barbara A, Teixeira Andreza C, Chen Julian J-L, Calado Rodrigo T, Martinelli Ana L |
| Association of genetic polymorphisms with erythrocyte traits: Verification of SNPs reported in a previous GWAS in a Japanese population. Gene 2017 Nov . Seiki Toshio, Naito Mariko, Hishida Asahi, Takagi Sahoko, Matsunaga Takashi, Sasakabe Tae, Hattori Yuta, Kawai Sayo, Okada Rieko, Yin Guang, Hamajima Nobuyuki, Wakai Ken |
| Pathogenic TERT promoter variants in telomere diseases. Genetics in medicine : official journal of the American College of Medical Genetics 2018 12 21 (7): 1594-1602. Gutierrez-Rodrigues Fernanda, Donaires Flávia S, Pinto André, Vicente Alana, Dillon Laura W, Clé Diego V, Santana Barbara A, Pirooznia Mehdi, Ibanez Maria Del Pilar F, Townsley Danielle M, Kajigaya Sachiko, Hourigan Christopher S, Cooper James N, Calado Rodrigo T, Young Neal |
| Epidemiological, clinical and genetic characterization of aplastic anemia patients in Pakistan. Annals of hematology 2019 Feb 98 (2): 301-312. Akram Zaineb, Ahmed Parvez, Kajigaya Sachiko, Satti Tariq Mahmood, Satti Humayoon Shafique, Chaudhary Qamar Un Nisa, Gutierrez-Rodrigues Fernanda, Ibanez Pilar F, Feng Xingmin, Mahmood Syed Kamran, Ghafoor Tariq, Shahbaz Nighat, Khan Mehreen Ali, Sultan Anee |
| 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 |
| Determinants of survival after lung transplantation in telomerase-related gene mutation carriers: A retrospective cohort. American journal of transplantation : official journal of the American Society of Transplantation and the American Society of Transplant Surgeons 2021 Dec . Phillips-Houlbracq Mathilde, Mal Hervé, Cottin Vincent, Gauvain Clément, Beier Fabian, Sicre de Fontbrune Flore, Sidali Sabrina, Mornex Jean François, Hirschi Sandrine, Roux Antoine, Weisenburger Gaelle, Roussel Arnaud, Wémeau-Stervinou Lidwine, Le Pavec Jérôme, Pison Christophe, Marchand Adam Sylvain, Froidure Antoine, Lazor Romain, Naccache Jean-Marc, Jouneau Stéphane, Nunes Hilario, Reynaud-Gaubert Martine, Le Borgne Aurélie, Boutboul David, Ba Ibrahima, Boileau Catherine, Crestani Bruno, Kannengiesser Caroline, Borie Raphaël, |
| Challenges in the interpretation of a germline TERT variant in a patient with juvenile myelomonocytic leukemia. Pediatric blood & cancer 2022 8 69 (10): e29909. Janczar Szymon, Kirschner Martin, Beier Fabian, Brümmendorf Tim H, Ussowicz Marek, Babol-Pokora Katarzyna, Oszer Aleksandra, Yoshimi Ayami, Kalwak Krzysztof, Mlynarski Wojcie |
| 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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