Detalhe da pesquisa
1.
Galaxy Is a Suitable Bioinformatics Platform for the Molecular Diagnosis of Human Genetic Disorders Using High-Throughput Sequencing Data Analysis: Five Years of Experience in a Clinical Laboratory.
Clin Chem
; 68(2): 313-321, 2022 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34871369
2.
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
3.
PIEZO1-gene gain-of-function mutations with lower limb lymphedema onset in an adult: Clinical, scintigraphic, and noncontrast magnetic resonance lymphography findings.
Am J Med Genet A
; 188(1): 243-248, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34477311
4.
Combined Platelet and Erythrocyte Salvage: Evaluation of a New Filtration-based Autotransfusion Device.
Anesthesiology
; 135(2): 246-257, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33984126
5.
Recent advances in the pathophysiology of PIEZO1-related hereditary xerocytosis.
Am J Hematol
; 96(8): 1017-1026, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33848364
6.
PIEZO1 activation delays erythroid differentiation of normal and hereditary xerocytosis-derived human progenitor cells.
Haematologica
; 105(3): 610-622, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31413092
7.
Clinical and biological features in PIEZO1-hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients.
Haematologica
; 104(8): 1554-1564, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655378
8.
Elevated MCHC reveals a Southeast Asian Ovalocytosis.
Am J Hematol
; 99(2): 331-332, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37966962
9.
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
10.
Inherited or acquired modifiers of iron status may dramatically affect the phenotype in dehydrated hereditary stomatocytosis.
Eur J Haematol
; 101(4): 566-569, 2018 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-29969830
11.
Prognostic factors of disease severity in infants with sickle cell anemia: A comprehensive longitudinal cohort study.
Am J Hematol
; 93(11): 1411-1419, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30132969
12.
Erythrocytes are altered in pulmonary arterial hypertension.
Eur Respir J
; 59(6)2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35595313
13.
A mutation in the Gardos channel is associated with hereditary xerocytosis.
Blood
; 126(11): 1273-80, 2015 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-26148990
14.
Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients.
Am J Hematol
; 97(8): E285-E288, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35560067
15.
Characterisation of Asp669Tyr Piezo1 cation channel activity in red blood cells: an unexpected phenotype.
Br J Haematol
; 194(1): e51-e55, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33973227
16.
Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation.
Am J Hematol
; 96(9): E318-E321, 2021 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34004026
17.
Previously misdiagnosed red cell membrane disorder and familial consequences.
Br J Haematol
; 190(6): 810, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32510597
18.
Development of a recombinant antithrombin variant as a potent antidote to fondaparinux and other heparin derivatives.
Blood
; 117(6): 2054-60, 2011 Feb 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21048158
19.
Long-term follow-up of subtotal splenectomy for hereditary spherocytosis: a single-center study.
Blood
; 127(12): 1616-8, 2016 Mar 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-26773041
20.
Subtotal and total splenectomy for hereditary pyropoikilocytosis: Benefits and outcomes.
Am J Hematol
; 93(10): E340-E342, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30035308