Search Results - "LAHARY, Agnes"
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1
Numerous Heinz bodies in a case of infantile pyknocytosis
Published in Blood (27-02-2020)Get full text
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2
Clinical and biological features in PIEZO1 -hereditary xerocytosis and Gardos channelopathy: a retrospective series of 126 patients
Published in Haematologica (Roma) (01-08-2019)“…We describe the clinical, hematologic and genetic characteristics of a retrospective series of 126 subjects from 64 families with hereditary xerocytosis…”
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3
PIEZO1 activation delays erythroid differentiation of normal and hereditary xerocytosis-derived human progenitor cells
Published in Haematologica (Roma) (01-03-2020)“…Hereditary xerocytosis is a dominantly inherited red cell membrane disorder caused in most cases by gain-of-function mutations in PIEZO1, encoding a…”
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4
Cardiac iron overload in chronically transfused patients with thalassemia, sickle cell anemia, or myelodysplastic syndrome
Published in PloS one (03-03-2017)“…The risk and clinical significance of cardiac iron overload due to chronic transfusion varies with the underlying disease. Cardiac iron overload shortens the…”
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5
Hypercoagulability evaluation in congenital red blood cell disorders using thrombin generation assay
Published in Thrombosis research (01-07-2023)“…•Red blood cell disorders are associated with hypercoagulability state.•Thrombin generation assay evaluates hypercoagulability.•All red blood cell disorders…”
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6
Screening of hereditary spherocytosis and pyruvate kinase deficiency by automated blood count using erythrocytic and reticulocytic parameters
Published in International journal of laboratory hematology (01-12-2018)“…Introduction Development of additional parameters for complete blood count has emerged in recent hematology analyzers, leading to many publications. However,…”
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7
G6PD: a homozygous deficiency revealed by macrocytosis after acute alcoholism
Published in Annales de biologie clinique (Paris) (01-11-2022)“…G6PD deficiency is one of the most common genetic disorders in the world, affecting more than 400 million people. The large majority of patients do not have…”
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8
Investigation of thrombin generation assay to predict vaso-occlusive crisis in adulthood with sickle cell disease
Published in Frontiers in cardiovascular medicine (05-10-2022)“…Introduction Sickle cell disease (SCD) is an inherited hemoglobinopathy disorder. The main consequence is synthesis of hemoglobin S leading to chronic…”
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Quaternary Structure Sensitive Tyrosine Residues in Human Hemoglobin: UV Resonance Raman Studies of Mutants at α140, β35, and β145 Tyrosine
Published in Biochemistry (Easton) (26-01-1999)“…Recent studies noted the contribution of α42Tyr to the T−R-dependent UV resonance Raman (UVRR) spectral changes of HbA [Nagai, M., et al. (1996) J. Mol…”
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10
An Additional Case of Hb Saint Nazaire [β103(G5)Phe→Ile; HBB: c.310T>A] Leading to Moderate Erythrocytosis in a French Family
Published in Hemoglobin (02-01-2019)“…We report two members of a French family who are carriers of a rare hemoglobin (Hb) variant leading to erythrocytosis: Hb Saint Nazaire [β103(G5)Phe→Ile; HBB:…”
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11
Fortuitous detection of a case of unknown haemoglobin Athens-Georgia from atypical HbA1c electropherogram
Published in Clinica chimica acta (02-02-2015)Get full text
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12
A painless, sudden loss of vision in sickle cell anaemia: central retinal artery occlusion
Published in The Lancet (British edition) (02-01-2021)Get full text
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13
Assessment of Reticulocyte and Erythrocyte Parameters From Automated Blood Counts in Vaso-Occlusive Crisis on Sickle Cell Disease
Published in Frontiers in medicine (13-04-2022)“…Sickle cell disease is a complex genetic disease involving cell adhesion between red blood cells, white blood cells, platelets and endothelial cells, inducing…”
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14
Haemoglobin J-Baltimore can be detected by HbA1c electropherogram but with underestimated HbA1c value
Published in Biochemia medica (2016)“…Glycated haemoglobin (HbA(1c)) is considered the gold standard for assessing diabetes compensation and treatment. In addition, fortuitous detection of…”
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Hemoglobin Camperdown [β104Arg→Ser] Detection During Hemoglobin A(1c) Measurement via Capillary Electrophoresis
Published in Annals of laboratory medicine (01-07-2016)Get full text
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16
Hemoglobin Camperdown [β104Arg→Ser] Detection During Hemoglobin A1c Measurement via Capillary Electrophoresis
Published in Annals of laboratory medicine (01-07-2016)“…KCI Citation Count: 0…”
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17
Crucial Role of NO and Endothelium-Derived Hyperpolarizing Factor in Human Sustained Conduit Artery Flow-Mediated Dilatation
Published in Hypertension (Dallas, Tex. 1979) (01-12-2006)“…Whether NO is involved or not in sustained conduit artery flow-mediated dilatation in humans remains unclear. Moreover, the role of endothelium-derived…”
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Influence of vascular dimension on gender difference in flow-dependent dilatation of peripheral conduit arteries
Published in American journal of physiology. Heart and circulatory physiology (01-04-2002)“…To assess the influence of initial diameter on the gender difference in flow-dependent dilatation (FDD) of the conduit artery, we measured radial artery…”
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19
Transfusion requirements and complication rate in β‐thalassemia intermedia due to heterozygous β‐globin gene mutation and triplicated α‐globin genes
Published in European journal of haematology (01-11-2023)“…Introduction The heterozygous condition for β‐thalassemia mutation associated with an extra functional α‐globin gene can produce a Thalassemia Intermedia (TI)…”
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Assessment of Cardiac Iron Overload in Chonically Transfused Patients with Thalassemia, Sickle Cell Anemia, and Myelodysplastic Syndromes
Published in Blood (03-12-2015)“…▪ Background. Cardiac iron overload is the major cause for death in regularly transfused thalassemic (Thal) patients. Its impact in myelodysplastic syndrome…”
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