Detalhe da pesquisa
1.
RNA interference therapy in acute hepatic porphyrias.
Blood
; 142(19): 1589-1599, 2023 11 09.
Artigo
Inglês
| MEDLINE | ID: mdl-37027823
2.
Case-based discussion of the acute hepatic porphyrias: Updates on pathogenesis, diagnosis and management.
Liver Int
; 2024 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-38618923
3.
Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria.
N Engl J Med
; 382(24): 2289-2301, 2020 06 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32521132
4.
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
Inglês
| MEDLINE | ID: mdl-36041558
5.
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
Inglês
| MEDLINE | ID: mdl-34931301
6.
NCCN Guidelines® Insights: Myelodysplastic Syndromes, Version 3.2022.
J Natl Compr Canc Netw
; 20(2): 106-117, 2022 02.
Artigo
Inglês
| MEDLINE | ID: mdl-35130502
7.
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
Inglês
| MEDLINE | ID: mdl-34298585
8.
Reprogramming identifies functionally distinct stages of clonal evolution in myelodysplastic syndromes.
Blood
; 134(2): 186-198, 2019 07 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31010849
9.
Single-cell analyses demonstrate that a heme-GATA1 feedback loop regulates red cell differentiation.
Blood
; 133(5): 457-469, 2019 01 31.
Artigo
Inglês
| MEDLINE | ID: mdl-30530752
10.
Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.
Genet Med
; 22(3): 590-597, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31690837
11.
Reply: Contrasting effect of iron supplementation in protoporphyria.
Hepatology
; 79(3): E89-E90, 2024 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37862462
12.
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
Inglês
| MEDLINE | ID: mdl-37505211
13.
Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L.
Am J Hum Genet
; 98(6): 1146-1158, 2016 06 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27259050
14.
Novel mechanisms of PIEZO1 dysfunction in hereditary xerocytosis.
Blood
; 130(16): 1845-1856, 2017 10 19.
Artigo
Inglês
| MEDLINE | ID: mdl-28716860
15.
Bone Marrow Morphology Associated With Germline RUNX1 Mutations in Patients With Familial Platelet Disorder With Associated Myeloid Malignancy.
Pediatr Dev Pathol
; 22(4): 315-328, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30600763
16.
Novel germ line DDX41 mutations define families with a lower age of MDS/AML onset and lymphoid malignancies.
Blood
; 127(8): 1017-23, 2016 Feb 25.
Artigo
Inglês
| MEDLINE | ID: mdl-26712909
17.
Association of unbalanced translocation der(1;7) with germline GATA2 mutations.
Blood
; 138(23): 2441-2445, 2021 12 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34469508
18.
Transfusion practices and complications in thalassemia.
Transfusion
; 58(12): 2826-2835, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30260477
19.
Acquired RhD mosaicism identifies fibrotic transformation of thrombopoietin receptor-mutated essential thrombocythemia.
Transfusion
; 57(9): 2136-2139, 2017 09.
Artigo
Inglês
| MEDLINE | ID: mdl-28653329
20.
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
Inglês
| MEDLINE | ID: mdl-27497531