Detalhe da pesquisa
1.
Common PIEZO1 Allele in African Populations Causes RBC Dehydration and Attenuates Plasmodium Infection.
Cell
; 173(2): 443-455.e12, 2018 04 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29576450
2.
Deciphering and disrupting PIEZO1-TMEM16F interplay in hereditary xerocytosis.
Blood
; 143(4): 357-369, 2024 Jan 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38033286
3.
PIEZO Ion Channels in Cardiovascular Functions and Diseases.
Circ Res
; 134(5): 572-591, 2024 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-38422173
4.
Missense mutations in PIEZO1, which encodes the Piezo1 mechanosensor protein, define Er red blood cell antigens.
Blood
; 141(2): 135-146, 2023 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36122374
5.
Vesiculation in irradiated and cation-leaky-stored red blood cells.
Transfusion
; 64(1): 150-161, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37952228
6.
Transient erythroblastopenia due to a GATA1 variant in an infant female.
Pediatr Blood Cancer
; 71(3): e30834, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38149846
7.
Early Onset of Severe Anemia Caused by Hb Calgary (HBB: C.194G > T): Another Case Report.
Hemoglobin
; 48(2): 118-120, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38344813
8.
Et barn med langvarig anemi.
Tidsskr Nor Laegeforen
; 144(4)2024 Mar 19.
Artigo
em Norueguês
| MEDLINE | ID: mdl-38506013
9.
The cation-leaky hereditary stomatocytosis syndromes: A tale of six proteins.
Br J Haematol
; 203(4): 509-522, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37679660
10.
Clinical utility of targeted next-generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience.
Eur J Haematol
; 110(6): 688-695, 2023 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-36825813
11.
A novel missense variant in ATP11C is associated with reduced red blood cell phosphatidylserine flippase activity and mild hereditary hemolytic anemia.
Am J Hematol
; 98(12): 1877-1887, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37671681
12.
Congenital dyserythropoietic anemia type IV in the genetic era: A rare neonatal case report of rapid identification with a review of the literature.
Pediatr Blood Cancer
; 70(5): e30245, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36798023
13.
Glucose 6 Phosphate Isomerase Deficiency, a Rare Hemolytic Anemia Misdiagnosed as Hereditary Spherocytosis.
J Pediatr Hematol Oncol
; 45(1): 41-43, 2023 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36161881
14.
Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta-thalassemia.
J Clin Lab Anal
; 37(23-24): e24991, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38087905
15.
PIEZO1, sensing the touch during erythropoiesis.
Curr Opin Hematol
; 29(3): 112-118, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35441597
16.
Whole-exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes.
Br J Haematol
; 198(6): 1051-1064, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819869
17.
A Gardos channelopathy associated with nonimmune hydrops and fetal loss.
Clin Genet
; 102(6): 543-547, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36031591
18.
First report of successful treatment for hemoglobin Bristol-Alesha by hemopoietic stem cell transplantation.
Ann Hematol
; 101(3): 617-619, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34851438
19.
Screening for hereditary spherocytosis in daily practice: what is the best algorithm using erythrocyte and reticulocyte parameters?
Ann Hematol
; 101(7): 1485-1491, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35459963
20.
Red cell ektacytometry in two patients with chronic hemolytic anemia and three new α-spectrin variants.
Ann Hematol
; 101(3): 549-555, 2022 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-34845540