Search Results - "Picard, Veronique"

Non-immune Hemolysis: Diagnostic Considerations by Beris, Photis, Picard, Véronique

“…Non-immune hemolytic anemia (NIHA) is characterized by positive routine hemolytic tests but negative anti-human immunoglobulin (Coombs) test. Hereditary…”
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Elevated MCHC reveals a Southeast Asian Ovalocytosis by Souissi, Maïssa, Daliphard, Sylvie, Picard, Véronique, Lebigot, Elise, Jardin, Fabrice, Bobée, Victor

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‘We are slowly reclaiming for ourselves’: the generative possibilities of Indigenous youth voices by Blanchet-Cohen, Natasha, Picard, Véronique, Robert-Careau, Flavie, Gray-Lehoux, Cedric

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A Gardos channelopathy associated with nonimmune hydrops and fetal loss by Ghesh, Leïla, Besnard, Thomas, Joubert, Madeleine, Picard, Véronique, Le Vaillant, Claudine, Beneteau, Claire

“…Dehydrated hereditary stomatocytosis (DHS) (MIM#194380) is a rare autosomal dominant disorder of red blood cell permeability, characterized by a partially or…”
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Combined Platelet and Erythrocyte Salvage: Evaluation of a New Filtration-based Autotransfusion Device by Mansour, Alexandre, Decouture, Benoit, Roussel, Mikaël, Lefevre, Charles, Skreko, Lucie, Picard, Véronique, Ouattara, Alexandre, Bachelot-Loza, Christilla, Gaussem, Pascale, Nesseler, Nicolas, Gouin-Thibault, Isabelle

“…The SAME device (i-SEP, France) is an innovative filtration-based autotransfusion device able to salvage and wash both red blood cells and platelets. This…”
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A mutation in the Gardos channel is associated with hereditary xerocytosis by Rapetti-Mauss, Raphael, Lacoste, Caroline, Picard, Véronique, Guitton, Corinne, Lombard, Elise, Loosveld, Marie, Nivaggioni, Vanessa, Dasilva, Nathalie, Salgado, David, Desvignes, Jean-Pierre, Béroud, Christophe, Viout, Patrick, Bernard, Monique, Soriani, Olivier, Vinti, Henri, Lacroze, Valérie, Feneant-Thibault, Madeleine, Thuret, Isabelle, Guizouarn, Hélène, Badens, Catherine

“…The Gardos channel is a Ca2+-sensitive, intermediate conductance, potassium selective channel expressed in several tissues including erythrocytes and pancreas…”
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Previously misdiagnosed red cell membrane disorder and familial consequences by Gérard, Delphine, Bourin, Sophie, Phulpin, Aurélie, Picard, Véronique, Steschenko, Dominique, Perrin, Julien

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Increased incidence of germline PIEZO1 mutations in individuals with idiopathic erythrocytosis by Filser, Mathilde, Giansily-Blaizot, Muriel, Grenier, Mélanie, Monedero Alonso, David, Bouyer, Guillaume, Pérès, Laurent, Egée, Stéphane, Aral, Bernard, Airaud, Fabrice, Da Costa, Lydie, Picard, Véronique, Cougoul, Pierre, Palach, Marlène, Béziau, Stéphane, Garrec, Céline, Aguilar-Martinez, Patricia, Gardie, Betty, Girodon, François

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Characterisation of Asp669Tyr Piezo1 cation channel activity in red blood cells: an unexpected phenotype by Pérès, Laurent, Monedero Alonso, David, Nudel, Morgane, Figeac, Martin, Bruge, Judith, Sebda, Shéhérazade, Picard, Véronique, El Nemer, Wassim, Preudhomme, Claude, Rose, Christian, Egée, Stéphane, Bouyer, Guillaume

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Erythrocytes are altered in pulmonary arterial hypertension by Jutant, Etienne-Marie, Tu, Ly, Thuillet, Raphaël, Picard, Véronique, Guignabert, Christophe, Parent, Florence, Sitbon, Olivier, Humbert, Marc, Savale, Laurent, Huertas, Alice

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PIEZO1‐gene gain‐of‐function mutations with lower limb lymphedema onset in an adult: Clinical, scintigraphic, and noncontrast magnetic resonance lymphography findings by Vignes, Stéphane, Kaltenbach, Sophie, Garçon, Loïc, Arrivé, Lionel, Asnafi, Vahid, Guitton, Corinne, Bouligand, Jérôme, Delarue, Audrey, Picard, Véronique

“…Primary lymphedema, a rare disease, has a genetic cause in ~40% of patients. Recently, loss‐of‐function mutations in PIEZO1, which encodes the…”
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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 by Chappell, Kenneth, Francou, Bruno, Habib, Christophe, Huby, Thomas, Leoni, Marco, Cottin, Aurélien, Nadal, Florian, Adnet, Eric, Paoli, Eric, Oliveira, Christophe, Verstuyft, Céline, Davit-Spraul, Anne, Gaignard, Pauline, Lebigot, Elise, Duclos-Vallee, Jean-Charles, Young, Jacques, Kamenicky, Peter, Adams, David, Echaniz-Laguna, Andoni, Gonzales, Emmanuel, Bouvattier, Claire, Linglart, Agnes, Picard, Véronique, Bergoin, Emilie, Jacquemin, Emmanuel, Guiochon-Mantel, Anne, Proust, Alexis, Bouligand, Jérôme

“…To date, the usage of Galaxy, an open-source bioinformatics platform, has been reported primarily in research. We report 5 years' experience (2015 to 2020)…”
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Long-term follow-up of subtotal splenectomy for hereditary spherocytosis: a single-center study by Pincez, Thomas, Guitton, Corinne, Gauthier, Frédéric, de Lambert, Guénolée, Picard, Véronique, Fénéant-Thibault, Madeleine, Turhan, Ali, Mohandas, Narla, Tchernia, Gil, Garçon, Loïc

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Multiple thrombosis in a patient with Gardos channelopathy and a new KCNN4 mutation by Mansour‐Hendili, Lamisse, Egée, Stéphane, Monedero‐Alonso, David, Bouyer, Guillaume, Godeau, Bertrand, Badaoui, Bouchra, Lunati, Ariane, Noizat, Clara, Aissat, Abdelrazak, Kiger, Laurent, Mekki, Chadia, Picard, Véronique, Moutereau, Stéphane, Fanen, Pascale, Bartolucci, Pablo, Garçon, Loïc, Galactéros, Frédéric, Funalot, Benoît

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Value of combined spherocytose osmotic and EMA tests in the diagnosis of hereditary spherocytosis by Cheli, Estelle, Roze, Jocelyn, Daouairi, Nadia, Racine, Jessica, Guy, Julien, Ghazal, Khaldoun, Picard, Véronique, Girodon, Francois

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Acquired spherocytosis due to somatic ANK1 mutations as a manifestation of clonal hematopoiesis in elderly patients by Mansour‐Hendili, Lamisse, Flamarion, Edouard, Michel, Marc, Morbieu, Caroline, Gameiro, Christine, Sloma, Ivan, Badaoui, Bouchra, Darnige, Luc, Camard, Marion, Lunati‐Rozie, Ariane, Aissat, Abdelrazak, Tarfi, Sihem, Friedrich, Chloé, Picard, Véronique, Garçon, Loïc, Abermil, Nasséra, Kaltenbach, Sophie, Radford‐Weiss, Isabelle, Kosmider, Olivier, Fanen, Pascale, Bartolucci, Pablo, Godeau, Bertrand, Galactéros, Frédéric, Funalot, Benoît

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Thrombotic risk according to SERPINC1 genotype in a large cohort of subjects with antithrombin inherited deficiency by Alhenc-Gelas, Martine, Plu-Bureau, Genevieve, Hugon-Rodin, Justine, Picard, Véronique, Horellou, Marie-Helene

“…Inherited quantitative (type I) or qualitative (type II) antithrombin deficiency (ATD) due to mutations in the SERPINC1 gene is a well-known risk factor for…”
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Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis by Picard, Véronique, Proust, Alexis, Eveillard, Marion, Flatt, Joanna F., Couec, Marie-Laure, Caillaux, Gaêlle, Fénéant-Thibault, Madeleine, Finkelstein, Arie, Raphaël, Martine, Delaunay, Jean, Bruce, Lesley J., Pissard, Serge, Thomas, Caroline

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Expression of South East Asian Ovalocytic Band 3 Disrupts Erythroblast Cytokinesis and Reticulocyte Maturation by Flatt, Joanna F, Stevens-Hernandez, Christian J, Cogan, Nicola M, Eggleston, Daniel J, Haines, Nicole M, Heesom, Kate J, Picard, Veronique, Thomas, Caroline, Bruce, Lesley J

“…Southeast Asian Ovalocytosis results from a heterozygous deletion of 9 amino acids in the erythrocyte anion exchange protein AE1 (band 3). The report of the…”
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Subtotal and total splenectomy for hereditary pyropoikilocytosis: Benefits and outcomes by Pincez, Thomas, Guitton, Corinne, Landman‐Parker, Judith, Brousse, Valentine, Gauthier, Frédéric, Da Costa, Lydie, Ghazal, Kaldoun, Dufillot, Denis, Tchernia, Gil, Picard, Véronique, Garçon, Loïc

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