Detalhe da pesquisa
1.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Am J Hum Genet
; 109(10): 1909-1922, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36044892
2.
Inferring the initiation and development of myeloproliferative neoplasms.
Proc Natl Acad Sci U S A
; 119(37): e2120374119, 2022 09 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36083966
3.
Red cell mass measurement is still useful for myeloproliferative neoplasms management. Comment to "Role of red cell mass evaluation in myeloproliferative neoplasms with splanchnic vein thrombosis and normal hemoglobin value: a study of the France Intergroupe des Syndromes Myeloprolifératifs".
Haematologica
; 2024 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38695122
4.
Benefit of phlebotomy and low-dose aspirin in the prevention of vascular events in patients with EPOR primary familial polycythemia on the island of New Caledonia.
Haematologica
; 2024 Mar 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-38546672
5.
Role of red cell mass evaluation in myeloproliferative neoplasms with splanchnic vein thrombosis and normal hemoglobin value: a study of the France Intergroupe des Syndromes myeloprolifératifs.
Haematologica
; 2024 02 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38328854
6.
CALR-mutated patients with low allele burden represent a specific subtype of essential thrombocythemia: A study on behalf of FIM and GBMHM.
Am J Hematol
; 99(5): 1001-1004, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38404143
7.
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
Br J Haematol
; 200(2): 249-255, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36177683
8.
Inferring the dynamics of mutated hematopoietic stem and progenitor cells induced by IFNα in myeloproliferative neoplasms.
Blood
; 138(22): 2231-2243, 2021 12 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34407546
9.
Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis.
Haematologica
; 108(6): 1652-1666, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36700397
10.
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Haematologica
; 108(11): 3068-3085, 2023 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37317877
11.
Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Blood
; 132(5): 469-483, 2018 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891534
12.
Splanchnic vein thromboses associated with myeloproliferative neoplasms: An international, retrospective study on 518 cases.
Am J Hematol
; 95(2): 156-166, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31721282
13.
Carbon monoxide rebreathing method is a reliable test to evaluate the red cell mass in polycythaemia.
Br J Haematol
; 204(2): 706-709, 2024 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044575
14.
International external quality assurance of JAK2 V617F quantification.
Ann Hematol
; 98(5): 1111-1118, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30535576
15.
Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis.
Blood
; 137(13): 1828-1832, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33181827
16.
A retrospective analysis of the impact of treatments and blood counts on survival and the risk of vascular events during the course of polycythaemia vera.
Br J Haematol
; 177(5): 800-805, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28474342
17.
Cohen syndrome is associated with major glycosylation defects.
Hum Mol Genet
; 23(9): 2391-9, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24334764
18.
Presence of calreticulin mutations in JAK2-negative polycythemia vera.
Blood
; 124(26): 3964-6, 2014 Dec 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25305205
19.
Low incidence of EPOR mutations in idiopathic erythrocytosis.
Haematologica
; 106(1): 299-301, 2021 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32165487
20.
Can absolute polycythaemia be identified without measurement of the red cell mass?
Br J Haematol
; 190(2): e107-e110, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32430918