Detalhe da pesquisa
1.
Unfriendly protein of GATA1 and mechanisms of bone marrow failure.
Haematologica
; 2024 Apr 11.
Artigo
Inglês
| MEDLINE | ID: mdl-38618686
2.
Treatment of relapsed/refractory severe aplastic anemia in children: Evidence-based recommendations.
Pediatr Blood Cancer
; : e31075, 2024 May 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38764170
3.
Treatment of newly diagnosed severe aplastic anemia in children: Evidence-based recommendations.
Pediatr Blood Cancer
; : e31070, 2024 May 16.
Artigo
Inglês
| MEDLINE | ID: mdl-38757488
4.
Poor outcome after hematopoietic stem cell transplantation of patients with unclassified inherited bone marrow failure syndromes.
Eur J Haematol
; 108(4): 278-287, 2022 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-34897809
5.
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
Inglês
| MEDLINE | ID: mdl-34342889
6.
Androgen therapy in inherited bone marrow failure syndromes: analysis from the Canadian Inherited Marrow Failure Registry.
Br J Haematol
; 189(5): 976-981, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32128787
7.
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
Inglês
| MEDLINE | ID: mdl-32779892
8.
Reduction of Extramedullary Complications in Patients With Acute Myeloid Leukemia/Myelodysplastic Syndrome Treated With Azacitidine.
J Pediatr Hematol Oncol
; 42(3): 170-174, 2020 04.
Artigo
Inglês
| MEDLINE | ID: mdl-32134844
9.
Biallelic mutations in EXOC3L2 cause a novel syndrome that affects the brain, kidney and blood.
J Med Genet
; 56(5): 340-346, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30327448
10.
Understanding the evolving phenotype of vascular complications in telomere biology disorders.
Angiogenesis
; 22(1): 95-102, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30168024
11.
Correcting the aberrant Fanconi anemia transcriptional program by gene therapy.
Haematologica
; 108(10): 2566-2567, 2023 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37288500
12.
Pancytopenia, splenomegaly, and mild bony abnormalities secondary to novel variants in thromboxane synthetase: An unusual cause of bone marrow failure.
Pediatr Blood Cancer
; 70(6): e30253, 2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36786374
13.
Underlying undiagnosed inherited marrow failure syndromes among children with cancer.
Pediatr Blood Cancer
; 64(2): 302-305, 2017 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27577695
14.
Response to treatment with azacitidine in children with advanced myelodysplastic syndrome prior to hematopoietic stem cell transplantation.
Haematologica
; 101(12): 1508-1515, 2016 12.
Artigo
Inglês
| MEDLINE | ID: mdl-27540140
15.
Bone marrow failure and developmental delay caused by mutations in poly(A)-specific ribonuclease (PARN).
J Med Genet
; 52(11): 738-48, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26342108
16.
Improving diagnostic precision, care and syndrome definitions using comprehensive next-generation sequencing for the inherited bone marrow failure syndromes.
J Med Genet
; 52(9): 575-84, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26136524
17.
The impact of category, cytopathology and cytogenetics on development and progression of clonal and malignant myeloid transformation in inherited bone marrow failure syndromes.
Haematologica
; 100(5): 633-42, 2015 May.
Artigo
Inglês
| MEDLINE | ID: mdl-25682607
18.
PKD1L1-related situs inversus associated with sideroblastic anemia.
Clin Genet
; 95(5): 629-630, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30791085
19.
Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome.
Blood
; 129(11): 1557-1562, 2017 03 16.
Artigo
Inglês
| MEDLINE | ID: mdl-28062395
20.
Diagnosis and treatment of pediatric acquired aplastic anemia (AAA): an initial survey of the North American Pediatric Aplastic Anemia Consortium (NAPAAC).
Pediatr Blood Cancer
; 61(5): 869-74, 2014 May.
Artigo
Inglês
| MEDLINE | ID: mdl-24285674