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Hélène Guizouarn
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Journal Articles

Mechanosensation and lipid scrambling news

Hélène Guizouarn
Journal: Blood
Blood (2024) 143 (4): 300–301.
https://doi.org/10.1182/blood.2023023367
Published: 2024
Journal Articles

A mutation in the Gardos channel is associated with hereditary xerocytosis

Raphael Rapetti-Mauss, Caroline Lacoste, Véronique Picard, Corinne Guitton, Elise Lombard, Marie Loosveld, Vanessa Nivaggioni, Nathalie Dasilva, David Salgado, Jean-Pierre Desvignes, Christophe Béroud, Patrick Viout, Monique Bernard, Olivier Soriani, Henri Vinti, Valérie Lacroze, Madeleine Feneant-Thibault, Isabelle Thuret, Hélène Guizouarn, Catherine Badens
Journal: Blood
Blood (2015) 126 (11): 1273–1280.
https://doi.org/10.1182/blood-2015-04-642496
Published: 2015
Journal Articles

Stomatin-deficient cryohydrocytosis results from mutations in SLC2A1 : a novel form of GLUT1 deficiency syndrome

Joanna F. Flatt, Hélène Guizouarn, Nicholas M. Burton, Franck Borgese, Richard J. Tomlinson, Robert J. Forsyth, Stephen A. Baldwin, Bari E. Levinson, Philippe Quittet, Patricia Aguilar-Martinez, Jean Delaunay, Gordon W. Stewart, Lesley J. Bruce
Journal: Blood
Blood (2011) 118 (19): 5267–5277.
https://doi.org/10.1182/blood-2010-12-326645
Published: 2011
Includes: Supplemental data
Journal Articles

The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein

Lesley J. Bruce, Hélène Guizouarn, Nicholas M. Burton, Nicole Gabillat, Joyce Poole, Joanna F. Flatt, R. Leo Brady, Franck Borgese, Jean Delaunay, Gordon W. Stewart
Journal: Blood
Blood (2009) 113 (6): 1350–1357.
https://doi.org/10.1182/blood-2008-07-171140
Published: 2009
Includes: Supplemental data
Journal Articles

BAND 3CEINGE (Gly796Arg) Mutation Causes Dehydrated Hereditary Stomatocytosis (DHS) with Dyserythropoietic Phenotype

Luigia De Falco, Lucia De Franceschi, Frank Borgese, Carmelo Piscopo, Maria Rosaria Esposito, Rosa Anna Avvisati, Pietro Izzo, Helene Guizouarn, Andrea Biondani, Achille Iolascon, MD, PhD
Journal: Blood
Blood (2008) 112 (11): 2874.
https://doi.org/10.1182/blood.V112.11.2874.2874
Published: 2008
Journal Articles

Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance

Hélène Guizouarn, Sonia Martial, Nicole Gabillat, Franck Borgese
Journal: Blood
Blood (2007) 110 (6): 2158–2165.
https://doi.org/10.1182/blood-2006-12-063420
Published: 2007
Includes: Supplemental data