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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 2, 2023. (Total: 221654Documents)
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Records 1 - 6 (of 6 Records)

Query Trace: Dyskeratosis Congenita and RTEL1[original query]
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
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shortening.
Nature genetics 2015 May 47 (5): 512-7.
Stuart Bridget D, Choi Jungmin, Zaidi Samir, Xing Chao, Holohan Brody, Chen Rui, Choi Mihwa, Dharwadkar Pooja, Torres Fernando, Girod Carlos E, Weissler Jonathan, Fitzgerald John, Kershaw Corey, Klesney-Tait Julia, Mageto Yolanda, Shay Jerry W, Ji Weizhen, Bilguvar Kaya, Mane Shrikant, Lifton Richard P, Garcia Christine K
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
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
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