Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Syndrome and RTEL1[original query] |
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Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan. International journal of hematology 2015 Sep . Yamaguchi Hiroki, Sakaguchi Hirotoshi, Yoshida Kenichi, Yabe Miharu, Yabe Hiromasa, Okuno Yusuke, Muramatsu Hideki, Takahashi Yoshiyuki, Yui Shunsuke, Shiraishi Yuichi, Chiba Kenichi, Tanaka Hiroko, Miyano Satoru, Inokuchi Koiti, Ito Etsuro, Ogawa Seishi, Kojima Sei |
Rare variants in RTEL1 are associated with familial interstitial pneumonia. American journal of respiratory and critical care medicine 2015 Mar 191 (6): 646-55. Cogan Joy D, Kropski Jonathan A, Zhao Min, Mitchell Daphne B, Rives Lynette, Markin Cheryl, Garnett Errine T, Montgomery Keri H, Mason Wendi R, McKean David F, Powers Julia, Murphy Elissa, Olson Lana M, Choi Leena, Cheng Dong-Sheng, Blue Elizabeth Marchani, Young Lisa R, Lancaster Lisa H, Steele Mark P, Brown Kevin K, Schwarz Marvin I, Fingerlin Tasha E, Schwartz David A, Lawson William E, Loyd James E, Zhao Zhongming, Phillips John A, Blackwell Timothy |
A genome-wide association study by ImmunoChip reveals potential modifiers in myelodysplastic syndromes. Experimental hematology 2016 Nov 44 (11): 1034-1038. Danjou Fabrice, Fozza Claudio, Zoledziewska Magdalena, Mulas Antonella, Corda Giovanna, Contini Salvatore, Dore Fausto, Galleu Antonio, Di Tucci Anna Angela, Caocci Giovanni, Gaviano Eleonora, Latte Giancarlo, Gabbas Attilio, Casula Paolo, Delogu Lucia Gemma, La Nasa Giorgio, Angelucci Emanuele, Cucca Francesco, Longinotti Mauriz |
Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms. Blood advances 2018 Jan 2 (1): 36-48. Marsh Judith C W, Gutierrez-Rodrigues Fernanda, Cooper James, Jiang Jie, Gandhi Shreyans, Kajigaya Sachiko, Feng Xingmin, Ibanez Maria Del Pilar F, Donaires Flávia S, Lopes da Silva João P, Li Zejuan, Das Soma, Ibanez Maria, Smith Alexander E, Lea Nicholas, Best Steven, Ireland Robin, Kulasekararaj Austin G, McLornan Donal P, Pagliuca Anthony, Callebaut Isabelle, Young Neal S, Calado Rodrigo T, Townsley Danielle M, Mufti Ghulam |
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, |
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder. Respiratory research 2023 6 24 (1): 158. Laura Bergantini, Margherita Baldassarri, Miriana d'Alessandro, Giulia Brunelli, Gaia Fabbri, Kristina Zguro, Andrea Degl'Innocenti, , Chiara Fallerini, Elena Bargagli, Alessandra Renie |
- Page last reviewed:Feb 1, 2024
- Page last updated:Mar 25, 2024
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