Detalhe da pesquisa
1.
Next generation sequencing (NGS) interest in deciphering erythrocyte molecular defects' association in red cell disorders: Clinical and erythrocyte phenotypes of patients with mutations inheritance in PIEZO1, Spectrin ß1, RhAG and SLC4A1.
Blood Cells Mol Dis
; 103: 102780, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37516005
2.
Germline bi-allelic SH2B3/LNK alteration predisposes to a neonatal juvenile myelomonocytic leukemia-like disorder.
Haematologica
; 2023 Nov 16.
Artigo
Inglês
| MEDLINE | ID: mdl-37981895
3.
EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Blood
; 134(3): 277-290, 2019 07 18.
Artigo
Inglês
| MEDLINE | ID: mdl-31151987
4.
Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome.
Blood
; 132(12): 1318-1331, 2018 09 20.
Artigo
Inglês
| MEDLINE | ID: mdl-29914977
5.
A PAX5 P80R pediatric B acute lymphoblastic leukemia with monocytic lineage switch at diagnosis: Deciphering classification ambiguity.
Pediatr Blood Cancer
; 71(3): e30842, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38189777
6.
Cannibalism in an ETV6::RUNX1 paediatric B acute lymphoblastic leukaemia.
Br J Haematol
; 202(2): 211, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37157849
7.
Kiss of death between CAR-T cells and KMT2a::AFF1 B lymphoblasts in the central nervous system.
Am J Hematol
; 98(11): 1816-1817, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37340822
8.
Relevance of Howell-Jolly body counts for measuring spleen function in sickle cell disease.
Am J Hematol
; 98(5): E110-E112, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-36794434
9.
Hereditary spherocytosis associated with Noonan syndrome mimicking a dyserythropoietic anaemia.
Pediatr Blood Cancer
; 70(4): e30121, 2023 04.
Artigo
Inglês
| MEDLINE | ID: mdl-36579772
10.
Acute Myeloid Leukemia With Central Nervous System Involvement in Children: Experience From the French Protocol Analysis ELAM02.
J Pediatr Hematol Oncol
; 40(1): 43-47, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29189507
11.
Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history.
Br J Haematol
; 179(4): 557-574, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28875503
12.
Leukaemic transformation in a 10-year-old girl with SRP54 congenital neutropenia.
Br J Haematol
; 198(6): 1069-1072, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35732340
13.
Brandalise syndrome: a rare inclusion cell disease.
Blood
; 136(11): 1373, 2020 09 10.
Artigo
Inglês
| MEDLINE | ID: mdl-32957120
14.
Biallelic CXCR2 loss-of-function mutations define a distinct congenital neutropenia entity.
Haematologica
; 107(3): 765-769, 2022 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34854278
15.
Acute megakaryoblastic leukemia (excluding Down syndrome) remains an acute myeloid subgroup with inferior outcome in the French ELAM02 trial.
Pediatr Hematol Oncol
; 34(8): 425-427, 2017 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-29303660
16.
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
Hum Mol Genet
; 23(16): 4315-27, 2014 Aug 15.
Artigo
Inglês
| MEDLINE | ID: mdl-24705357
17.
Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer.
Blood Cells Mol Dis
; 56(1): 9-22, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26603718
18.
Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia.
Haematologica
; 106(4): 1216-1219, 2021 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32273475
19.
Acquired factor XIII deficiency in a child with pure erythroid leukemia.
Pediatr Blood Cancer
; 68(6): e28890, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33484080
20.
Massive renal infiltration by Burkitt lymphoma.
Pediatr Int
; 63(2): 238-239, 2021 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-33629426