Terms: = Leukemia AND SBDS, SWDS, 51119, ENSG00000126524, FLJ10917, CGI-97, Q9Y3A5 AND Treatment
8 results:
1. Identification of an asymptomatic Shwachman-Bodian-Diamond syndrome mutation in a patient with acute myeloid leukemia.
Shibata S; Inano S; Watanabe M; Fujiwara K; Ueno H; Nannya Y; Kanda J; Kawasaki N; Okamoto Y; Takiuchi Y; Fukunaga A; Tabata S; Ogawa S; Takaori-Kondo A; Kitano T
Int J Hematol; 2022 Mar; 115(3):428-434. PubMed ID: 34704233
[TBL] [Abstract] [Full Text] [Related]
2. Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
Kim B; Yun W; Lee ST; Choi JR; Yoo KH; Koo HH; Jung CW; Kim SH
Sci Rep; 2020 Aug; 10(1):14297. PubMed ID: 32868804
[TBL] [Abstract] [Full Text] [Related]
3. Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.
Furutani E; Shah AS; Zhao Y; Andorsky D; Dedeoglu F; Geddis A; Zhou Y; Libermann TA; Myers KC; Shimamura A
Am J Med Genet A; 2020 Jul; 182(7):1754-1760. PubMed ID: 32293785
[TBL] [Abstract] [Full Text] [Related]
4. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.
Myers KC; Furutani E; Weller E; Siegele B; Galvin A; Arsenault V; Alter BP; Boulad F; Bueso-Ramos C; Burroughs L; Castillo P; Connelly J; Davies SM; DiNardo CD; Hanif I; Ho RH; Karras N; Manalang M; McReynolds LJ; Nakano TA; Nalepa G; Norkin M; Oberley MJ; Orgel E; Pastore YD; Rosenthal J; Walkovich K; Larson J; Malsch M; Elghetany MT; Fleming MD; Shimamura A
Lancet Haematol; 2020 Mar; 7(3):e238-e246. PubMed ID: 31879230
[TBL] [Abstract] [Full Text] [Related]
5. Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells.
Bezzerri V; Bardelli D; Morini J; Vella A; Cesaro S; Sorio C; Biondi A; Danesino C; Farruggia P; Assael BM; D'amico G; Cipolli M
Am J Hematol; 2018 Aug; 93(4):527-536. PubMed ID: 29285795
[TBL] [Abstract] [Full Text] [Related]
6. Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.
Burwick N; Shimamura A; Liu JM
Semin Hematol; 2011 Apr; 48(2):136-43. PubMed ID: 21435510
[TBL] [Abstract] [Full Text] [Related]
7. Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome.
Austin KM; Gupta ML; Coats SA; Tulpule A; Mostoslavsky G; Balazs AB; Mulligan RC; Daley G; Pellman D; Shimamura A
J Clin Invest; 2008 Apr; 118(4):1511-8. PubMed ID: 18324336
[TBL] [Abstract] [Full Text] [Related]
8. Shwachman-Diamond syndrome.
Shimamura A
Semin Hematol; 2006 Jul; 43(3):178-88. PubMed ID: 16822460
[TBL] [Abstract] [Full Text] [Related]
