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Page 1
Association of unbalanced translocation der(1;7) with germline GATA2 mutations.
Kozyra EJ, Göhring G, Hickstein DD, Calvo KR, DiNardo CD, Dworzak M, de Haas V, Starý J, Hasle H, Shimamura A, Fleming MD, Inaba H, Lewis S, Hsu AP, Holland SM, Arnold DE, Mecucci C, Keel SB, Bertuch AA, Tawana K, Barzilai S, Hirabayashi S, Onozawa M, Lei S, Alaiz H, Andrikovics H, Betts D, Beverloo BH, Buechner J, Čermák M, Cervera J, Haus O, Jahnukainen K, Manola KN, Nebral K, Pasquali F, Tchinda J, Turkiewicz D, Van Roy N, Zemanova Z, Pastor VB, Strahm B, Noellke P, Niemeyer CM, Schlegelberger B, Yoshimi A, Wlodarski MW. Kozyra EJ, et al. Among authors: bertuch aa. Blood. 2021 Dec 9;138(23):2441-2445. doi: 10.1182/blood.2021012781. Blood. 2021. PMID: 34469508 Free PMC article. No abstract available.
Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC).
Williams DA, Bennett C, Bertuch A, Bessler M, Coates T, Corey S, Dror Y, Huang J, Lipton J, Olson TS, Reiss UM, Rogers ZR, Sieff C, Vlachos A, Walkovich K, Wang W, Shimamura A. Williams DA, et al. Pediatr Blood Cancer. 2014 May;61(5):869-74. doi: 10.1002/pbc.24875. Epub 2013 Nov 27. Pediatr Blood Cancer. 2014. PMID: 24285674 Free PMC article.
Evaluation of Patients and Families With Concern for Predispositions to Hematologic Malignancies Within the Hereditary Hematologic Malignancy Clinic (HHMC).
DiNardo CD, Bannon SA, Routbort M, Franklin A, Mork M, Armanios M, Mace EM, Orange JS, Jeff-Eke M, Churpek JE, Takahashi K, Jorgensen JL, Garcia-Manero G, Kornblau S, Bertuch A, Cheung H, Bhalla K, Futreal A, Godley LA, Patel KP. DiNardo CD, et al. Clin Lymphoma Myeloma Leuk. 2016 Jul;16(7):417-428.e2. doi: 10.1016/j.clml.2016.04.001. Epub 2016 Apr 27. Clin Lymphoma Myeloma Leuk. 2016. PMID: 27210295 Free PMC article.
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. Among authors: bertuch aa. 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.
Somatic mutations and clonal hematopoiesis in congenital neutropenia.
Xia J, Miller CA, Baty J, Ramesh A, Jotte MRM, Fulton RS, Vogel TP, Cooper MA, Walkovich KJ, Makaryan V, Bolyard AA, Dinauer MC, Wilson DB, Vlachos A, Myers KC, Rothbaum RJ, Bertuch AA, Dale DC, Shimamura A, Boxer LA, Link DC. Xia J, et al. Among authors: bertuch aa. Blood. 2018 Jan 25;131(4):408-416. doi: 10.1182/blood-2017-08-801985. Epub 2017 Nov 1. Blood. 2018. PMID: 29092827 Free PMC article.
Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.
Magoulas PL, Shchelochkov OA, Bainbridge MN, Ben-Shachar S, Yatsenko S, Potocki L, Lewis RA, Searby C, Marcogliese AN, Elghetany MT, Zapata G, Hernández PP, Gadkari M, Einhaus D, Muzny DM, Gibbs RA, Bertuch AA, Scott DA, Corvera S, Franco LM. Magoulas PL, et al. Among authors: bertuch aa. Blood. 2018 Aug 9;132(6):658-662. doi: 10.1182/blood-2017-12-824433. Epub 2018 May 21. Blood. 2018. PMID: 29784638 Free PMC article.
88 results