Detalhe da pesquisa
1.
εγ-Thalassemia, a New Hemoglobinopathy Category.
Clin Chem
; 69(7): 711-717, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086467
2.
High-oxygen-affinity hemoglobinopathy-associated erythrocytosis: Clinical outcomes and impact of therapy in 41 cases.
Am J Hematol
; 96(12): 1647-1654, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34633117
3.
Influence of high affinity haemoglobin on the response to normoxic and hypoxic exercise.
J Physiol
; 598(8): 1475-1490, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31923331
4.
Correction to: Hybridization capture-based next-generation sequencing reliably detects FLT3 mutations and classifies FLT3-internal tandem duplication allelic ratio in acute myeloid leukemia: a comparative study to standard fragment analysis.
Mod Pathol
; 33(3): 514, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31591496
5.
Hybridization capture-based next generation sequencing reliably detects FLT3 mutations and classifies FLT3-internal tandem duplication allelic ratio in acute myeloid leukemia: a comparative study to standard fragment analysis.
Mod Pathol
; 33(3): 334-343, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31471587
6.
Further Characterization of Hb Bronovo [α103(G10)HisâLeu; HBA2: c.311A>T] and First Report of the Homozygous State.
Hemoglobin
; 44(3): 174-178, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-32552204
7.
Modelling the relationships between haemoglobin oxygen affinity and the oxygen cascade in humans.
J Physiol
; 597(16): 4193-4202, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31290158
8.
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Am J Hematol
; 94(1): 149-161, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30358897
9.
Hb Gibbon [ß124(H2)ProâThr (HBB: c.373C>A, p.P125T)], an Asymptomatic Novel Hemoglobin Variant Detected by Newborn Screening.
Hemoglobin
; 43(3): 207-209, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31387435
10.
Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.
Am J Hematol
; 2018 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-29790589
11.
Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: The Mayo Clinic experience.
Haematologica
; 107(5): 1201-1204, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35142155
12.
Clinical course of patients with incidental finding of 20q- in the bone marrow without a morphologic evidence of myeloid neoplasm.
Am J Hematol
; 91(6): 556-9, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26928533
13.
A Novel ß-Globin Chain Hemoglobin Variant, Hb Allentown [ß137(H15)ValâTrp (GTG>TGG) HBB: c.412_413delinsTG, p.Val138Trp], Associated with Low Oxygen Saturation, Intermittent Aplastic Crises and Splenomegaly.
Hemoglobin
; 40(2): 130-3, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26681102
14.
Bone marrow findings of the newly described TEMPI syndrome: when erythrocytosis and plasma cell dyscrasia coexist.
Mod Pathol
; 28(3): 367-72, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25216227
15.
Using Daily Plasma-Free Hemoglobin Levels for Diagnosis of Critical Pump Thrombus in Patients Undergoing ECMO or VAD Support.
J Extra Corpor Technol
; 47(2): 103-8, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26405358
16.
ß-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a novel ß(0)-thalassemia frameshift mutation: HBB: c.209delG; p.Gly70Valfs*20.
Hemoglobin
; 38(4): 292-4, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24986053
17.
Hb Manukau [ß67(E11)Val â Gly; HBB: c.203T>G]: the role of genetic testing in the diagnosis of idiopathic hemolytic anemia.
Hemoglobin
; 38(3): 211-2, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24611675
18.
Hb Memphis [HBA2: c.70G>C (or HBA1)] in a Turkish child: a case report and comparison to Hb Q-Thailand (HBA1: c.223G>C).
Hemoglobin
; 38(2): 137-41, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24432778
19.
Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): a new hyperunstable hemoglobin variant.
Hemoglobin
; 38(1): 8-12, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24432801
20.
Bone marrow histopathology in POEMS syndrome: a distinctive combination of plasma cell, lymphoid, and myeloid findings in 87 patients.
Blood
; 117(24): 6438-44, 2011 Jun 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-21385854