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Telomeres and telomerase: at the end, it all comes together.
Evans SK, Bertuch AA, Lundblad V. Evans SK, et al. Among authors: bertuch aa. Trends Cell Biol. 1999 Aug;9(8):329-31. doi: 10.1016/s0962-8924(99)01596-2. Trends Cell Biol. 1999. PMID: 10490336 Review. No abstract available.
Telomeres and double-strand breaks: trying to make ends meet.
Bertuch A, Lundblad V. Bertuch A, et al. Trends Cell Biol. 1998 Sep;8(9):339-42. doi: 10.1016/s0962-8924(98)01331-2. Trends Cell Biol. 1998. PMID: 9728393
Three novel truncating TINF2 mutations causing severe dyskeratosis congenita in early childhood.
Sasa GS, Ribes-Zamora A, Nelson ND, Bertuch AA. Sasa GS, et al. Among authors: bertuch aa. Clin Genet. 2012 May;81(5):470-8. doi: 10.1111/j.1399-0004.2011.01658.x. Epub 2011 Apr 7. Clin Genet. 2012. PMID: 21477109 Free PMC article.
Papillary thyroid cancer: a pediatric perspective.
Flannery TK, Kirkland JL, Copeland KC, Bertuch AA, Karaviti LP, Brandt ML. Flannery TK, et al. Among authors: bertuch aa. Pediatrics. 1996 Sep;98(3 Pt 1):464-6. Pediatrics. 1996. PMID: 8784379 Review. No abstract available.
A single institution experience with pediatric nasopharyngeal carcinoma: high incidence of toxicity associated with platinum-based chemotherapy plus IMRT.
Louis CU, Paulino AC, Gottschalk S, Bertuch AA, Chintagumpala M, Heslop HE, Russell HV. Louis CU, et al. Among authors: bertuch aa. J Pediatr Hematol Oncol. 2007 Jul;29(7):500-5. doi: 10.1097/MPH.0b013e3180959af4. J Pediatr Hematol Oncol. 2007. PMID: 17609631
Gastrointestinal Hemorrhage: A Manifestation of the Telomere Biology Disorders.
Himes RW, Chiou EH, Queliza K, Shouval DS, Somech R, Agarwal S, Jajoo K, Ziegler DS, Kratz CP, Huang J, Lucas TL, Myers KC, Nelson AS, DiNardo CD, Alter BP, Giri N, Khincha PP, McReynolds LJ, Dufour C, Pierri F, Goldman FD, Sherif Y, Savage SA, Miloh T, Bertuch AA. Himes RW, et al. Among authors: bertuch aa. J Pediatr. 2020 Sep 21:S0022-3476(20)31171-9. doi: 10.1016/j.jpeds.2020.09.038. Online ahead of print. J Pediatr. 2020. PMID: 32971146
Telomere dysfunction activates YAP1 to drive tissue inflammation.
Chakravarti D, Hu B, Mao X, Rashid A, Li J, Li J, Liao WT, Whitley EM, Dey P, Hou P, LaBella KA, Chang A, Wang G, Spring DJ, Deng P, Zhao D, Liang X, Lan Z, Lin Y, Sarkar S, Terranova C, Deribe YL, Blutt SE, Okhuysen P, Zhang J, Vilar E, Nielsen OH, Dupont A, Younes M, Patel KR, Shroyer NF, Rai K, Estes MK, Wang YA, Bertuch AA, DePinho RA. Chakravarti D, et al. Among authors: bertuch aa. Nat Commun. 2020 Sep 21;11(1):4766. doi: 10.1038/s41467-020-18420-w. Nat Commun. 2020. PMID: 32958778 Free PMC article.
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency.
Pillai NR, Amin H, Gijavanekar C, Liu N, Issaq N, Broniowska KA, Bertuch AA, Sutton VR, Elsea SH, Scaglia F. Pillai NR, et al. Among authors: bertuch aa. Am J Med Genet A. 2020 Sep 10. doi: 10.1002/ajmg.a.61851. Online ahead of print. Am J Med Genet A. 2020. PMID: 32909658
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.
Bhar S, Zhou F, Reineke LC, Morris DK, Khincha PP, Giri N, Mirabello L, Bergstrom K, Lemon LD, Williams CL, Toh Y, Elghetany MT, Lloyd RE, Alter BP, Savage SA, Bertuch AA. Bhar S, et al. Among authors: bertuch aa. Hum Mutat. 2020 Nov;41(11):1918-1930. doi: 10.1002/humu.24092. Epub 2020 Aug 30. Hum Mutat. 2020. PMID: 32790018
A study assessing the feasibility of randomization of pediatric and young adult patients between matched unrelated donor bone marrow transplantation and immune-suppressive therapy for newly diagnosed severe aplastic anemia: A joint pilot trial of the North American Pediatric Aplastic Anemia Consortium and the Pediatric Transplantation and Cellular Therapy Consortium.
Pulsipher MA, Lehmann LE, Bertuch AA, Sasa G, Olson T, Nakano T, Gilio A, Burroughs LM, Lipton JM, Huang JN, Dickerson K, Bertaina A, Zhuang C, Malsch M, Fleming M, Weller E, Shimamura A, Williams DA. Pulsipher MA, et al. Among authors: bertuch aa. Pediatr Blood Cancer. 2020 Aug 9:e28444. doi: 10.1002/pbc.28444. Online ahead of print. Pediatr Blood Cancer. 2020. PMID: 32776425
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