Human Genome Epidemiology Literature Finder
Records 1 - 22 (of 22 Records) |
Query Trace: DKC1[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 |
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 |
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 |
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity. Haematologica 2015 Jan 100 (1): 42-8. Zhang Michael Y, Keel Siobán B, Walsh Tom, Lee Ming K, Gulsuner Suleyman, Watts Amanda C, Pritchard Colin C, Salipante Stephen J, Jeng Michael R, Hofmann Inga, Williams David A, Fleming Mark D, Abkowitz Janis L, King Mary-Claire, Shimamura Aki |
Detection of mutations in TERT, the genes for telomerase reverse transcriptase, in Indian patients of aplastic anaemia: a pilot study. The Journal of the Association of Physicians of India 2014 Oct 62 (10): 13-7. Mehta Sudhir, Krishnamohan M, Gulati Sandhya, Sharmat Nidhi, Vashishtha Puneet, Singh Ishw |
[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 |
P27/CDKN1B Translational Regulators in Pituitary Tumorigenesis. Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme 2016 Dec 48 (12): 840-846. Martins C S, Camargo R C, Saggioro F P, Neder L, Machado H R, Moreira A C, de Castro |
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 |
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea. Inflammatory bowel diseases 2017 9 23 (12): 2109-2120. Petersen Britt-Sabina, August Dietrich, Abt Renate, Alddafari Moudjahed, Atarod Lida, Baris Safa, Bhavsar Hemant, Brinkert Florian, Buchta Mary, Bulashevska Alla, Chee Ronnie, Cordeiro Ana I, Dara Naghi, Dückers Gregor, Elmarsafy Aisha, Frede Natalie, Galal Nermeen, Gerner Patrick, Glocker Erik-Oliver, Goldacker Sigune, Hammermann Jutta, Hasselblatt Peter, Havlicekova Zuzana, Hübscher Katrin, Jesenak Milos, Karaca Neslihan E, Karakoc-Aydiner Elif, Kharaghani Mahboubeh M, Kilic Sara S, Kiykim Ayca, Klein Christoph, Klemann Christian, Kobbe Robin, Kotlarz Daniel, Laass Martin W, Leahy T Ronan, Mesdaghi Mehrnaz, Mitton Sally, Neves João F, Öztürk Birol, Pereira Luis F, Rohr Jan, Restrepo Jessica L R, Ruzaike Gunda, Saleh Nadia, Seneviratne Suranjith, Senol Ebru, Speckmann Carsten, Tegtmeyer Daniel, Thankam Paul, van der Werff Ten Bosch Jutte, von Bernuth Horst, Zeissig Sebastian, Zeissig Yvonne, Franke Andre, Grimbacher Bo |
Dysregulation of H/ACA ribonucleoprotein components in chronic lymphocytic leukemia. PloS one 2017 12 (6): e0179883. Dos Santos Patricia Carolina, Panero Julieta, Stanganelli Carmen, Palau Nagore Virginia, Stella Flavia, Bezares Raimundo, Slavutsky Ir |
Novel variants in Nordic patients referred for genetic testing of telomere-related disorders. European journal of human genetics : EJHG 2018 Feb . Norberg Anna, Rosén Anna, Raaschou-Jensen Klas, Kjeldsen Lars, Moilanen Jukka S, Paulsson-Karlsson Ylva, Baliakas Panagiotis, Lohi Olli, Ahmed Aymen, Kittang Astrid O, Larsson Pär, Roos Göran, Degerman Sofie, Hultdin Magn |
Myelodysplastic syndromes and idiopathic pulmonary fibrosis: a dangerous liaison. Respiratory research 2019 8 20 (1): 182. Papiris Spyros A, Tsirigotis Panagiotis, Kannengiesser Caroline, Kolilekas Lykourgos, Gkirkas Konstantinos, Papaioannou Andriana I, Revy Patrick, Giouleka Paschalina, Papadaki Georgia, Kagouridis Konstantinos, Pappa Vassiliki, Borie Raphael, Boileau Catherine, Bouros Demosthenes, Crestani Bruno, Manali Effrosyni |
Rare Protein-Altering Telomere-related Gene Variants in Patients with Chronic Hypersensitivity Pneumonitis. American journal of respiratory and critical care medicine 2019 Jul . Ley Brett, Torgerson Dara G, Oldham Justin M, Adegunsoye Ayodeji, Liu Shuo, Li Jie, Elicker Brett M, Henry Travis S, Golden Jeffrey A, Jones Kirk D, Dressen Amy, Yaspan Brian L, Arron Joseph R, Noth Imre, Hoffmann Thomas J, Wolters Paul |
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 |
Integrating Genomics Into Management of Fibrotic Interstitial Lung Disease. Chest 2019 1 155 (5): 1026-1040. Adegunsoye Ayodeji, Vij Rekha, Noth Im |
The nucleolar-related protein Dyskerin pseudouridine synthase 1 (DKC1) predicts poor prognosis in breast cancer. British journal of cancer 2020 Sep . Elsharawy Khloud A, Mohammed Omar J, Aleskandarany Mohammed A, Hyder Ayman, El-Gammal Hekmat L, Abou-Dobara Mohamed I, Green Andrew R, Dalton Leslie W, Rakha Emad |
Gene Panel Testing in Hereditary Breast Cancer. Archives of Iranian medicine 2020 Mar 23 (3): 155-162. Rostami Parvin, Zendehdel Kazem, Shirkoohi Reza, Ebrahimi Elmira, Ataei Mitra, Imanian Hashem, Najmabadi Hossein, Akbari Mohammad Reza, Sanati Mohammad Hosse |
Cancer spectrum and outcomes in the Mendelian short telomere syndromes. Blood 2020 2 135 (22): 1946-1956. Schratz Kristen E, Haley Lisa, Danoff Sonye K, Blackford Amanda L, DeZern Amy E, Gocke Christopher D, Duffield Amy S, Armanios Ma |
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 |
[Telomeres and lung]. Revue des maladies respiratoires 2022 6 39 (7): 595-606. Guérin C, Crestani B, Dupin C, Kawano-Dourado L, Ba I, Kannengiesser C, Borie |
Telomere Length as a New Risk Marker of Early-Onset Colorectal Cancer. International journal of molecular sciences 2023 2 24 (4): . Martel-Martel Abel, Corchete Luis A, Martí Marc, Vidal-Tocino Rosario, Hurtado Elena, Álvaro Edurne, Jiménez Fernando, Jiménez-Toscano Marta, Balaguer Francesc, Sanz Gonzalo, López Irene, Hernández-Villafranca Sergio, Ballestero Araceli, Vivas Alfredo, Melone Sirio, Pastor Carlos, Brandáriz Lorena, Gómez-Marcos Manuel A, Cruz-Hernández Juan J, Perea José, González-Sarmiento Rogel |
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