Human Genome Epidemiology Literature Finder
Records 1 - 21 (of 21 Records) |
Query Trace: Syndrome and TERT[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 |
Mutations of the TERT promoter are common in basal cell carcinoma and squamous cell carcinoma. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc 2014 Apr 27 (4): 516-23. Scott Glynis A, Laughlin Todd S, Rothberg Paul |
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome. European journal of human genetics : EJHG 2015 May 23 (5): 708-10. Yasar Binnaz, Byers Helen J, Smith Miriam J, Lear John, Oudit Deemesh, Bholah Zaynab, Roberts Stephen A, Newman William G, Evans D Gare |
Telomerase mutations in smokers with severe emphysema. The Journal of clinical investigation 2015 Feb 125 (2): 563-70. Stanley Susan E, Chen Julian J L, Podlevsky Joshua D, Alder Jonathan K, Hansel Nadia N, Mathias Rasika A, Qi Xiaodong, Rafaels Nicholas M, Wise Robert A, Silverman Edwin K, Barnes Kathleen C, Armanios Ma |
CDKN2A and BAP1 germline mutations predispose to melanoma and mesothelioma. Cancer letters 2016 May . Betti M, Aspesi A, Biasi A, Casalone E, Ferrante D, Ogliara P, Gironi L C, Giorgione R, Farinelli P, Grosso F, Libener R, Rosato S, Turchetti D, Maffè A, Casadio C, Ascoli V, Dianzani C, Colombo E, Piccolini E, Pavesi M, Miccoli S, Mirabelli D, Bracco C, Righi L, Boldorini R, Papotti M, Matullo G, Magnani C, Pasini B, Dianzani |
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 |
TERT promoter mutations are a rare event in gastrointestinal stromal tumors. SpringerPlus 2015 4 836. Akaike Keisuke, Toda-Ishii Midori, Suehara Yoshiyuki, Mukaihara Kenta, Kubota Daisuke, Mitani Keiko, Takagi Tatsuya, Kaneko Kazuo, Yao Takashi, Saito Tsuyos |
Long telomeres and cancer risk: the price of cellular immortality. The Journal of clinical investigation 2019 8 129 (9): 3474-3481. McNally Emily J, Luncsford Paz J, Armanios Ma |
GABPA-dependent down-regulation of DICER1 in follicular thyroid tumours. Endocrine-related cancer 2020 3 27 (5): 295-308. Paulsson Johan O, Wang Na, Gao Jiwei, Stenman Adam, Zedenius Jan, Mu Ninni, Lui Weng-Onn, Larsson Catharina, Juhlin C Christof |
Differential Genomic Profile in TERT, DSP, and FAM13A Between COPD Patients With Emphysema, IPF, and CPFE Syndrome. Frontiers in medicine 2021 9 8 725144. Guzmán-Vargas Javier, Ambrocio-Ortiz Enrique, Pérez-Rubio Gloria, Ponce-Gallegos Marco Antonio, Hernández-Zenteno Rafael de Jesus, Mejía Mayra, Ramírez-Venegas Alejandra, Buendia-Roldan Ivette, Falfán-Valencia Ramc |
A genetic variant in telomerase reverse transcriptase (TERT) modifies cancer risk in Lynch syndrome patients harbouring pathogenic MSH2 variants. Scientific reports 2021 May 11 (1): 11401. Wiik Mariann Unhjem, Evans Tiffany-Jane, Belhadj Sami, Bolton Katherine A, Dymerska Dagmara, Jagmohan-Changur Shantie, Capellá Gabriel, Kurzawski Grzegorz, Wijnen Juul T, Valle Laura, Vasen Hans F A, Lubinski Jan, Scott Rodney J, Talseth-Palmer Bente |
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 |
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, |
TINF2 is a major susceptibility gene in Danish patients with multiple primary melanoma. HGG advances 2023 8 4 (4): 100225. Marlene Richter Jensen, Anne Marie Jelsig, Anne-Marie Gerdes, Lisbet Rosenkrantz Hölmich, Kati Hannele Kainu, Henrik Frank Lorentzen, Mary Højgaard Hansen, Mads Bak, Peter A Johansson, Nicholas K Hayward, Thomas Van Overeem Hansen, Karin A W Wa |
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 |
Molecular characterization of large cell calcifying sertoli cell tumors: A multi-institutional study of 6 benign and 2 malignant tumors. Human pathology 2023 12 . Eman Abdulfatah, Khaleel I Al-Obaidy, Dan Robinson, Yi-Mi Wu, Amer Heider, Muhammad T Idrees, Thomas M Ulbright, Lakshmi Pryia Kunju, Angela |
Characterization of Potential Melanoma Predisposition Genes in High-Risk Brazilian Patients. International journal of molecular sciences 2023 11 24 (21): . Bianca Costa Soares de Sá, Luciana Facure Moredo, Giovana Tardin Torrezan, Felipe Fidalgo, Érica Sara Souza de Araújo, Maria Nirvana Formiga, João Pereira Duprat, Dirce Maria Carra |
Pediatric-type high-grade gliomas with PDGFRA amplification in adult patients with Li-Fraumeni syndrome: clinical and molecular characterization of three cases. Acta neuropathologica communications 2024 4 12 (1): 57. Yuji Kibe, Fumiharu Ohka, Kosuke Aoki, Junya Yamaguchi, Kazuya Motomura, Eiji Ito, Kazuhito Takeuchi, Yuichi Nagata, Satoshi Ito, Nobuhiko Mizutani, Yoshiki Shiba, Sachi Maeda, Tomohide Nishikawa, Hiroki Shimizu, Ryuta Sai |
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- Page last updated:Apr 22, 2024
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