Detalhe da pesquisa
1.
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
N Engl J Med
; 382(24): 2289-2301, 2020 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32521132
2.
Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria.
J Am Acad Dermatol
; 89(6): 1227-1237, 2023 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36041558
3.
Cerebrospinal fluid flow cytometry and risk of central nervous system relapse after hyperCVAD in adults with acute lymphoblastic leukemia.
Cancer
; 128(7): 1411-1417, 2022 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34931301
4.
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.
Hum Mutat
; 42(11): 1367-1383, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34298585
5.
Reprogramming identifies functionally distinct stages of clonal evolution in myelodysplastic syndromes.
Blood
; 134(2): 186-198, 2019 07 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31010849
6.
Single-cell analyses demonstrate that a heme-GATA1 feedback loop regulates red cell differentiation.
Blood
; 133(5): 457-469, 2019 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-30530752
7.
Reply: Contrasting effect of iron supplementation in protoporphyria.
Hepatology
; 79(3): E89-E90, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37862462
8.
Evidence-based consensus guidelines for the diagnosis and management of protoporphyria-related liver dysfunction in erythropoietic protoporphyria and X-linked protoporphyria.
Hepatology
; 79(3): 731-743, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37505211
9.
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
Am J Hum Genet
; 98(6): 1146-1158, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27259050
10.
Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.
Blood
; 130(16): 1845-1856, 2017 10 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-28716860
11.
Association of unbalanced translocation der(1;7) with germline GATA2 mutations.
Blood
; 138(23): 2441-2445, 2021 12 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34469508
12.
Transfusion practices and complications in thalassemia.
Transfusion
; 58(12): 2826-2835, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30260477
13.
Identifying Inherited and Acquired Genetic Factors Involved in Poor Stem Cell Mobilization and Donor-Derived Malignancy.
Biol Blood Marrow Transplant
; 22(11): 2100-2103, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27497531
14.
Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.
Haematologica
; 101(11): 1343-1350, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27418648
15.
Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.
Haematologica
; 100(1): 42-8, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25239263
16.
Donor-Derived Malignancy and Transplantation Morbidity: Risks of Patient and Donor Genetics in Allogeneic Hematopoietic Stem Cell Transplantation.
Transplant Cell Ther
; 30(3): 255-267, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37913908
17.
Evaluating the prevalence of inborn errors of immunity in adults with chronic immune thrombocytopenia or Evans syndrome.
Blood Adv
; 7(23): 7202-7208, 2023 12 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37792884
18.
Phase 1/2 study of sorafenib added to cladribine, high-dose cytarabine, G-CSF, and mitoxantrone in untreated AML.
Blood Adv
; 7(17): 4950-4961, 2023 09 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-37339483
19.
Lamin B1 deletion in myeloid neoplasms causes nuclear anomaly and altered hematopoietic stem cell function.
Cell Stem Cell
; 29(4): 577-592.e8, 2022 04 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35278369
20.
Phase 1/2 Trial of CLAG-M with Dose-Escalated Mitoxantrone in Combination with Fractionated-Dose Gemtuzumab Ozogamicin for Newly Diagnosed Acute Myeloid Leukemia and Other High-Grade Myeloid Neoplasms.
Cancers (Basel)
; 14(12)2022 Jun 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35740603