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Page 1
Understanding the evolving phenotype of vascular complications in telomere biology disorders.
Higgs C, Crow YJ, Adams DM, Chang E, Hayes D Jr, Herbig U, Huang JN, Himes R, Jajoo K, Johnson FB, Reynolds SD, Yonekawa Y, Armanios M, Boulad F, DiNardo CD, Dufour C, Goldman FD, Khan S, Kratz C, Myers KC, Raghu G, Alter BP, Aubert G, Bhala S, Cowen EW, Dror Y, El-Youssef M, Friedman B, Giri N, Helms Guba L, Khincha PP, Lin TF, Longhurst H, McReynolds LJ, Nelson A, Olson T, Pariser A, Perona R, Sasa G, Schratz K, Simonetto DA, Townsley D, Walsh M, Stevens K, Agarwal S, Bertuch AA, Savage SA; Clinical Care Consortium for Telomere-associated Ailments (CCCTAA). Higgs C, et al. Among authors: townsley d. Angiogenesis. 2019 Feb;22(1):95-102. doi: 10.1007/s10456-018-9640-7. Epub 2018 Aug 25. Angiogenesis. 2019. PMID: 30168024 Free article. Review.
Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.
Khincha PP, Bertuch AA, Agarwal S, Townsley DM, Young NS, Keel S, Shimamura A, Boulad F, Simoneau T, Justino H, Kuo C, Artandi S, McCaslin C, Cox DW, Chaffee S, Collins BF, Giri N, Alter BP, Raghu G, Savage SA. Khincha PP, et al. Eur Respir J. 2017 Jan 25;49(1):1601640. doi: 10.1183/13993003.01640-2016. Print 2017 Jan. Eur Respir J. 2017. PMID: 27824607 Free PMC article.
MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations.
McReynolds LJ, Yang Y, Yuen Wong H, Tang J, Zhang Y, Mulé MP, Daub J, Palmer C, Foruraghi L, Liu Q, Zhu J, Wang W, West RR, Yohe ME, Hsu AP, Hickstein DD, Townsley DM, Holland SM, Calvo KR, Hourigan CS. McReynolds LJ, et al. Among authors: townsley dm. Leuk Res. 2019 Jan;76:70-75. doi: 10.1016/j.leukres.2018.11.013. Epub 2018 Dec 4. Leuk Res. 2019. PMID: 30578959 Free PMC article.
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. 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. 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.
The Spectrum of Hepatic Involvement in Patients With Telomere Disease.
Kapuria D, Ben-Yakov G, Ortolano R, Cho MH, Kalchiem-Dekel O, Takyar V, Lingala S, Gara N, Tana M, Kim YJ, Kleiner DE, Young NS, Townsley DM, Koh C, Heller T. Kapuria D, et al. Among authors: townsley dm. Hepatology. 2019 Jun;69(6):2579-2585. doi: 10.1002/hep.30578. Epub 2019 Apr 10. Hepatology. 2019. PMID: 30791107 Free PMC article.
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. 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.
63 results