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Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

by Albuisson, Juliette, Murthy, Swetha E, Bandell, Michael, Coste, Bertrand, Louis-dit-Picard, Hélène, Mathur, Jayanti, Fénéant-Thibault, Madeleine, Tertian, Gérard, de Jaureguiberry, Jean-Pierre, Syfuss, Pierre-Yves, Cahalan, Stuart, Garçon, Loic, Toutain, Fabienne, Simon Rohrlich, Pierre, Delaunay, Jean, Picard, Véronique, Jeunemaitre, Xavier, Patapoutian, Ardem
Published in Nature communications (2013)

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Long-term follow-up of subtotal splenectomy for hereditary spherocytosis: a single-center study

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
Published in Blood (24.03.2016)

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Homozygous Southeast Asian ovalocytosis is a severe dyserythropoietic anemia associated with distal renal tubular acidosis

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
Published in Blood (20.03.2014)

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Usefulness of the eosin‐5′‐maleimide cytometric method as a first‐line screening test for the diagnosis of hereditary spherocytosis: comparison with ektacytometry and protein electrophoresis

Usefulness of the eosin‐5′‐maleimide cytometric method as a first‐line screening test for the diagnosis of hereditary spherocytosis: comparison with ektacytometry and protein electrophoresis

by Girodon, François, Garçon, Loïc, Bergoin, Emilie, Largier, Marie, Delaunay, Jean, Fénéant‐Thibault, Madeleine, Maynadié, Marc, Couillaud, Gérard, Moreira, Sophie, Cynober, Thérèse
Published in British journal of haematology (01.02.2008)

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Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

by Iolascon, Achille, Russo, Roberta, Esposito, Maria Rosaria, Asci, Roberta, Piscopo, Carmelo, Perrotta, Silverio, Fénéant-Thibault, Madeleine, Garçon, Loïc, Delaunay, Jean
Published in Haematologica (Roma) (01.05.2010)

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Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis

Homozygous deletion of EPB41 genuine AUG-containing exons results in mRNA splicing defects, NMD activation and protein 4.1R complete deficiency in hereditary elliptocytosis

by Baklouti, Faouzi, Morinière, Madeleine, Haj-Khélil, Amel, Fénéant-Thibault, Madeleine, Gruffat, Henri, Couté, Yohann, Ninot, Alain, Guitton, Corinne, Delaunay, Jean
Published in Blood cells, molecules, & diseases (15.10.2011)

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Association between myeloid malignancies and acquired deficit in protein 4.1R: A retrospective analysis of six patients

Association between myeloid malignancies and acquired deficit in protein 4.1R: A retrospective analysis of six patients

by Alanio‐Bréchot, Cécile, Schischmanoff, Pierre‐Olivier, Fénéant‐Thibault, Madeleine, Cynober, Thérèse, Tchernia, Gil, Delaunay, Jean, Garçon, Loïc
Published in American journal of hematology (01.04.2008)

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A Dyserythropoietic Anemia Associated with Homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), A Variant with an Unstable α Chain

A Dyserythropoietic Anemia Associated with Homozygous Hb Plasencia [α125(H8)Leu→Arg (α2)] (HBA2:c.377T>G), A Variant with an Unstable α Chain

by Garçon, Loïc, Iolascon, Achille, Pissard, Serge, Esposito, Maria R., Russo, Roberta, Fenneteau, Odile, Fénéant-Thibault, Madeleine, Heimpel, Hermann, Delaunay, Jean
Published in Hemoglobin (01.12.2010)

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Southeast Asian Ovalocytosis and A Sickle Cell Trait in a Young Patient with Sudden Retinal Stroke: A Fortuitous Association?

Southeast Asian Ovalocytosis and A Sickle Cell Trait in a Young Patient with Sudden Retinal Stroke: A Fortuitous Association?

by Favale, Fabrizia, Gardembas, Martine, Pajot, Olivier, Saada, Véronique, Fénéant-Thibault, Madeleine, Delaunay, Jean, Garçon, Loïc
Published in Hemoglobin (01.12.2009)

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A mutation in the Gardos channel is associated with hereditary xerocytosis

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
Published in Blood (10.09.2015)

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Correction: Corrigendum: Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

Correction: Corrigendum: Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

by Albuisson, Juliette, Murthy, Swetha E., Bandell, Michael, Coste, Bertrand, Louis-dit-Picard, Hélène, Mathur, Jayanti, Fénéant-Thibault, Madeleine, Tertian, Gérard, de Jaureguiberry, Jean-Pierre, Syfuss, Pierre-Yves, Cahalan, Stuart, Garçon, Loic, Toutain, Fabienne, Rohrlich, Pierre Simon, Delaunay, Jean, Picard, Véronique, Jeunemaitre, Xavier, Patapoutian, Ardem
Published in Nature communications (23.09.2013)

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Long-Term Follow up of the Beneficial Effects and of Issues in Subtotal Splenectomy for Hereditary Spherocytosis

Long-Term Follow up of the Beneficial Effects and of Issues in Subtotal Splenectomy for Hereditary Spherocytosis

by Pincez, Thomas, Guitton, Corinne, Gauthier, Frederic, Lambert, Guenolee, Picard, Veronique, feneant Thibault, Madeleine, Mohandas, Narla, Tchernia, Gil, Garcon, Loic
Published in Blood (03.12.2015)

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Corrigendum: Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

Corrigendum: Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

by Albuisson, Juliette, Murthy, Swetha E, Bandell, Michael, Coste, Bertrand, Louis-dit-picard, Hélène, Mathur, Jayanti, Fénéant-thibault, Madeleine, Tertian, Gérard, De Jaureguiberry, Jean-pierre, Syfuss, Pierre-yves, Cahalan, Stuart, Garçon, Loic, Toutain, Fabienne, Rohrlich, Pierre Simon, Delaunay, Jean, Picard, Véronique, Jeunemaitre, Xavier, Patapoutian, Ardem
Published in Nature communications (01.09.2013)

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Dehydrated Hereditary Stomatocytosislinked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

Dehydrated Hereditary Stomatocytosislinked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

by Albuisson, Juliette, Murthy, Swetha E., Bandell, Michael, Coste, Bertrand, Louis-dit-Picard, Hélène, Mathur, Jayanti, Fénéant-Thibault, Madeleine, Tertian, Gérard, de Jaureguiberry, Jean-Pierre, Syfuss, Pierre-Yves, Cahalan, Stuart, Garçon, Loic, Toutain, Fabienne, Rohrlich, Pierre Simon, Delaunay, Jean, Picard, Véronique, Jeunemaitre, Xavier, Patapoutian, Ardem
Published in Nature communications (01.01.2013)

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L-Proline uptake in human fibroblasts: Evidence for a high-affinity system in addition to system A

L-Proline uptake in human fibroblasts: Evidence for a high-affinity system in addition to system A

by Feneant-Thibault, Madeleine, Moatti, Nicole, Maccario, Jean, Corriat, Audrey, Lemonnier, Alain
Published in Biochemical and biophysical research communications (15.01.1987)

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Congenital dyserythropoietic anemias

Congenital dyserythropoietic anemias

by Tchernia, Gil, Bader-Meunier, Brigitte, Beauchamp-Nicoud, Anne, Cynober, Thérèse, Fénéant-Thibault, Madeleine, Delaunay, Jean
Published in The hematology journal : the official journal of the European Haematology Association (2004)

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