Single Large-Scale Mitochondrial DNA Deletion Syndromes.
Goldstein A, Falk MJ.
2003 Dec 17 [updated 2023 Sep 28]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:20301382
Bortezomib combined with standard induction chemotherapy in Japanese children with refractory acute lymphoblastic leukemia.
Iguchi A, Cho Y, Sugiyama M, Terashita Y, Ariga T, Hosoya Y, Hirabayashi S, Manabe A, Hara K, Aiba T, Shiokawa T, Tada H, Sato N.
Eltrombopag in combination with immunosuppressive therapy in pediatric severe aplastic anemia: phase 2 ESCALATE trial.
Shimamura A, Maschan A, Bennett C, Samarasinghe S, Farrar JE, Li CK, Sirachainan N, Pongtanakul B, Komvilaisak P, Zubarovskaya L, Rothman JA, Walkovich K, Nakano TA, Bertuch AA, Ferrao A, Bhat R, Hanna R, Overholt K, Boklan J, Wong TF, Wang Q, Urban P, Strahm B, Wang W, Vlachos A, Williams DA.
Blood Adv. 2025 Aug 12;9(15):3728-3738. doi: 10.1182/bloodadvances.2024015102.
PMID:40315366
Long-term outcomes of patients with refractory cytopenia of childhood under observation only.
Drexler B, Schwarz-Furlan S, Baumann I, Rudelius M, Nöllke P, Lebrecht D, Ramamoorthy S, Rotari N, Karow A, Hirabayashi S, Beier F, Behrens YL, Göhring G, Kalb R, Wlodarski MW, Strahm B, Erlacher M, Niemeyer CM, Yoshimi A.
Blood Adv. 2025 Aug 26;9(16):4279-4285. doi: 10.1182/bloodadvances.2025016136.
PMID:40554414
Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.
Aluri J, Bach A, Kaviany S, Chiquetto Paracatu L, Kitcharoensakkul M, Walkiewicz MA, Putnam CD, Shinawi M, Saucier N, Rizzi EM, Harmon MT, Keppel MP, Ritter M, Similuk M, Kulm E, Joyce M, de Jesus AA, Goldbach-Mansky R, Lee YS, Cella M, Kendall PL, Dinauer MC, Bednarski JJ, Bemrich-Stolz C, Canna SW, Abraham SM, Demczko MM, Powell J, Jones SM, Scurlock AM, De Ravin SS, Bleesing JJ, Connelly JA, Rao VK, Schuettpelz LG, Cooper MA.
Blood. 2021 May 6;137(18):2450-2462. doi: 10.1182/blood.2020009620.
PMID:33512449
FLAG with Bortezomib in Children and Adolescents with Relapsed/Refractory Acute Myeloid Leukemia in a Resource-Limited Setting: A Single-Center Experience from India.
Dave D, Tak H, Trivedi M, Yadav R, Doctor C, Panchal H.
South Asian J Cancer. 2025 May 15;14(3):570-573. doi: 10.1055/s-0045-1809167. eCollection 2025 Jul.
PMID:41445872
Of gains and losses: SAMD9/SAMD9L and monosomy 7 in myelodysplastic syndrome.