Human Genome Epidemiology Literature Finder
Primary Immune Deficiency Diseases
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Records 1 - 30 (of 31 Records) |
| Query Trace: Dyskeratosis Congenita[original query] |
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| 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 |
| 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 |
| TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements. Blood 2009 Jan 113 (2): 309-16. Du Hong-Yan, Pumbo Elena, Ivanovich Jennifer, An Ping, Maziarz Richard T, Reiss Ulrike M, Chirnomas Deborah, Shimamura Akiko, Vlachos Adrianna, Lipton Jeffrey M, Goyal Rakesh K, Goldman Frederick, Wilson David B, Mason Philip J, Bessler Moni |
| 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 |
Genome-wide association identifies OBFC1 as a locus involved in human leukocyte telomere biology.
Proceedings of the National Academy of Sciences of the United States of America 2010 May 107 (20): 9293-8. Levy Daniel, Neuhausen Susan L, Hunt Steven C, Kimura Masayuki, Hwang Shih-Jen, Chen Wei, Bis Joshua C, Fitzpatrick Annette L, Smith Erin, Johnson Andrew D, Gardner Jeffrey P, Srinivasan Sathanur R, Schork Nicholas, Rotter Jerome I, Herbig Utz, Psaty Bruce M, Sastrasinh Malinee, Murray Sarah S, Vasan Ramachandran S, Province Michael A, Glazer Nicole L, Lu Xiaobin, Cao Xiaojian, Kronmal Richard, Mangino Massimo, Soranzo Nicole, Spector Tim D, Berenson Gerald S, Aviv Abrah |
| 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 |
| DKC1 gene mutations in human sporadic cancer. Histology and histopathology 2013 Mar 28 (3): 3. Penzo M, Casoli L, Ceccarelli C, Treré D, Ludovini V, Crinò L, Montanaro L |
| 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 |
| Novel Mutation of the TINF2 Gene in a Patient with Dyskeratosis Congenita. Case reports in dermatology 0 7 (2): 212-9. Panichareon Benjaporn, Seedapan Thanawat, Thongnoppakhun Wanna, Limwongse Chanin, Pithukpakorn Manop, Limjindaporn Thawornch |
| 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 |
| [Genotype analysis and telomere length measure in patients with dyskeratosis congenita]. Zhongguo shi yan xue ye xue za zhi / Zhongguo bing li sheng li xue hui = Journal of experimental hematology / Chinese Association of Pathophysiology 2015 Feb 23 (1): 212-6. Zhang Jia-Yuan, An Wen-Bin, Zhang Li, Chang Li-Xian, Qi Ben-Quan, Liu Tian-Feng, Liu Fang, Yang Wen-Yu, Guo Ye, Zhu Xiao-F |
| Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis. Haematologica 2016 Sep . Walne Amanda J, Collopy Laura, Cardoso Shirleny, Ellison Alicia, Plagnol Vincent, Albayrak Canan, Albayrak Davut, Kilic Sara Sebnem, Patiroglu Turkan, Akar Haluk, Godfrey Keith, Carter Tina, Marafie Makia, Vora Ajay, Sundin Mikael, Vulliamy Thomas, Tummala Hemanth, Dokal Inderje |
| Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene. Molecular genetics & genomic medicine 2016 May 4 (3): 359-66. Suter Aude-Annick, Itin Peter, Heinimann Karl, Ahmed Munaza, Ashraf Tazeen, Fryssira Helen, Kini Usha, Lapunzina Pablo, Miny Peter, Sommerlund Mette, Suri Mohnish, Vaeth Signe, Vasudevan Pradeep, Gallati Sabi |
| Clonal hematopoiesis in patients with dyskeratosis congenita. American journal of hematology 2016 Sep . Perdigones Nieves, Perin Juan C, Schiano Irene, Nicholas Peter, Biegel Jaclyn A, Mason Philip J, Babushok Daria V, Bessler Moni |
| Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up. Haematologica 2017 10 103 (1): 30-39. Alter Blanche P, Giri Neelam, Savage Sharon A, Rosenberg Philip |
| Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita. Leukemia 2018 5 32 (8): 1762-1767. Kirschner Martin, Maurer Angela, Wlodarski Marcin W, Ventura Ferreira Monica S, Bouillon Anne-Sophie, Halfmeyer Insa, Blau Wolfgang, Kreuter Michael, Rosewich Martin, Corbacioglu Selim, Beck Joachim, Schwarz Michaela, Bittenbring Jörg, Radsak Markus P, Wilk Christian Matthias, Koschmieder Steffen, Begemann Matthias, Kurth Ingo, Schemionek Mirle, Brümmendorf Tim H, Beier Fabi |
| The age of heterozygous telomerase mutant parents influences the adult phenotype of their offspring irrespective of genotype in zebrafish. Wellcome open research 2018 3 2 77. Scahill Catherine M, Digby Zsofia, Sealy Ian M, White Richard J, Wali Neha, Collins John E, Stemple Derek L, Busch-Nentwich Elisabeth |
| 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 |
| Development of metachronous rectal cancers in a young man with dyskeratosis congenita: a case report. Journal of medical case reports 2019 Apr 13 (1): 117. Watanabe Motoko, Yamamoto Gou, Fujiyoshi Kenji, Akagi Yoshito, Kakuta Miho, Nishimura Yoji, Akagi Kiwa |
| 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 |
| Prognostic significance of pulmonary function tests in dyskeratosis congenita, a telomere biology disorder. ERJ open research 2019 11 5 (4): . Giri Neelam, Ravichandran Sandhiya, Wang Youjin, Gadalla Shahinaz M, Alter Blanche P, Fontana Joseph, Savage Sharon |
| 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 |
| Disease progression and clinical outcomes in telomere biology disorders. Blood 2021 12 139 (12): 1807-1819. Niewisch Marena R, Giri Neelam, McReynolds Lisa J, Alsaggaf Rotana, Bhala Sonia, Alter Blanche P, Savage Sharon |
| Germline thymidylate synthase deficiency impacts nucleotide metabolism and causes dyskeratosis congenita. American journal of human genetics 2022 8 109 (8): 1472-1483. Tummala Hemanth, Walne Amanda, Buccafusca Roberto, Alnajar Jenna, Szabo Anita, Robinson Peter, McConkie-Rosell Allyn, Wilson Meredith, Crowley Suzanne, Kinsler Veronica, Ewins Anna-Maria, Madapura Pradeepa M, Patel Manthan, Pontikos Nikolas, Codd Veryan, Vulliamy Tom, Dokal Inderje |
| 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 |
| Truncating TINF2 p.Tyr312Ter variant and inherited breast cancer susceptibility. Familial cancer 2022 May . Koivuluoma Susanna, Vorimo Sandra, Mattila Tiina M, Tervasmäki Anna, Kumpula Timo, Kuismin Outi, Winqvist Robert, Moilanen Jukka, Mantere Tuomo, Pylkäs Kat |
| 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 |
| Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene. Frontiers in oncology 2023 10 13 1229507. Richa Sharma, Ninad Oak, Wenan Chen, Rose Gogal, Martin Kirschner, Fabian Beier, Michael J Schnieders, Maria Spies, Kim E Nichols, Marcin Wlodars |
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