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Pathogenic TERT promoter variants in telomere diseases.
Gutierrez-Rodrigues F, Donaires FS, Pinto A, Vicente A, Dillon LW, Clé DV, Santana BA, Pirooznia M, Ibanez MDPF, Townsley DM, Kajigaya S, Hourigan CS, Cooper JN, Calado RT, Young NS. Gutierrez-Rodrigues F, et al. Among authors: young ns. Genet Med. 2019 Jul;21(7):1594-1602. doi: 10.1038/s41436-018-0385-x. Epub 2018 Dec 7. Genet Med. 2019. PMID: 30523342 Free PMC article.
Bone marrow failure and the telomeropathies.
Townsley DM, Dumitriu B, Young NS. Townsley DM, et al. Among authors: young ns. Blood. 2014 Oct 30;124(18):2775-83. doi: 10.1182/blood-2014-05-526285. Epub 2014 Sep 18. Blood. 2014. PMID: 25237198 Free PMC article. Review.
Danazol Treatment for Telomere Diseases.
Townsley DM, Dumitriu B, Liu D, Biancotto A, Weinstein B, Chen C, Hardy N, Mihalek AD, Lingala S, Kim YJ, Yao J, Jones E, Gochuico BR, Heller T, Wu CO, Calado RT, Scheinberg P, Young NS. Townsley DM, et al. Among authors: young ns. N Engl J Med. 2016 May 19;374(20):1922-31. doi: 10.1056/NEJMoa1515319. N Engl J Med. 2016. PMID: 27192671 Free PMC article. Clinical Trial.
Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.
Marsh JCW, Gutierrez-Rodrigues F, Cooper J, Jiang J, Gandhi S, Kajigaya S, Feng X, Ibanez MDPF, Donaires FS, Lopes da Silva JP, Li Z, Das S, Ibanez M, Smith AE, Lea N, Best S, Ireland R, Kulasekararaj AG, McLornan DP, Pagliuca A, Callebaut I, Young NS, Calado RT, Townsley DM, Mufti GJ. Marsh JCW, et al. Among authors: young ns. Blood Adv. 2018 Jan 4;2(1):36-48. doi: 10.1182/bloodadvances.2017008110. eCollection 2018 Jan 9. Blood Adv. 2018. PMID: 29344583 Free PMC article.
Telomere maintenance and human bone marrow failure.
Calado RT, Young NS. Calado RT, et al. Among authors: young ns. Blood. 2008 May 1;111(9):4446-55. doi: 10.1182/blood-2007-08-019729. Epub 2008 Jan 31. Blood. 2008. PMID: 18239083 Free PMC article. Review.
Telomere diseases.
Calado RT, Young NS. Calado RT, et al. Among authors: young ns. N Engl J Med. 2009 Dec 10;361(24):2353-65. doi: 10.1056/NEJMra0903373. N Engl J Med. 2009. PMID: 20007561 Free PMC article. Review. No abstract available.
574 results