Detalhe da pesquisa
1.
Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.
Blood
; 141(13): 1513-1523, 2023 03 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36542827
2.
The clinical picture of ERCC6L2 disease: from bone marrow failure to acute leukemia.
Blood
; 141(23): 2853-2866, 2023 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36952636
3.
Autophagy in mesenchymal progenitors protects mice against bone marrow failure after severe intermittent stress.
Blood
; 139(5): 690-703, 2022 02 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34657154
4.
Genomic profiling for clinical decision making in myeloid neoplasms and acute leukemia.
Blood
; 140(21): 2228-2247, 2022 11 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-36130297
5.
Expanded phenotypic and hematologic abnormalities beyond bone marrow failure in MECOM-associated syndromes.
Am J Med Genet A
; 191(7): 1826-1835, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37067177
6.
Impact of cytoreduction and remission status on hematopoietic cell transplantation outcomes in pediatric myelodysplastic syndrome and related disorders.
Pediatr Blood Cancer
; : e30530, 2023 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369986
7.
Disease-specific induced pluripotent stem cells.
Cell
; 134(5): 877-86, 2008 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-18691744
8.
Congenital X-linked neutropenia with myelodysplasia and somatic tetraploidy due to a germline mutation in SEPT6.
Am J Hematol
; 97(1): 18-29, 2022 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34677878
9.
Coronavirus disease 2019 and vaccination in patients with Shwachman-Diamond syndrome.
Pediatr Blood Cancer
; 69(5): e29647, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35253346
10.
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
11.
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
Hum Mol Genet
; 28(1): 133-142, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30247636
12.
Genetic predisposition to MDS: clinical features and clonal evolution.
Blood
; 133(10): 1071-1085, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670445
13.
Diagnostic work-up for severe aplastic anemia in children: Consensus of the North American Pediatric Aplastic Anemia Consortium.
Am J Hematol
; 96(11): 1491-1504, 2021 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34342889
14.
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene BRCA1.
Proc Natl Acad Sci U S A
; 115(20): 5241-5246, 2018 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29712865
15.
Somatic mutations and clonal hematopoiesis in congenital neutropenia.
Blood
; 131(4): 408-416, 2018 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29092827
16.
Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.
Am J Med Genet A
; 182(7): 1754-1760, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32293785
17.
A study assessing the feasibility of randomization of pediatric and young adult patients between matched unrelated donor bone marrow transplantation and immune-suppressive therapy for newly diagnosed severe aplastic anemia: A joint pilot trial of the North American Pediatric Aplastic Anemia Consortium and the Pediatric Transplantation and Cellular Therapy Consortium.
Pediatr Blood Cancer
; 67(10): e28444, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32776425
18.
Diagnosis and treatment of pediatric myelodysplastic syndromes: A survey of the North American Pediatric Aplastic Anemia Consortium.
Pediatr Blood Cancer
; 67(10): e28652, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32779892
19.
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
20.
Telomere biology disorders: ends and (genetic) means.
Blood
; 139(12): 1776-1777, 2022 03 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-35323880