M. Fénéant‐Thibault

发表

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

Y. Couté, A. Haj-Khélil, C. Guitton, 2011, Blood cells, molecules & diseases.

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

L. Garçon, J. Delaunay, T. Cynober, 2008, American journal of hematology.

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

Véronique Picard, Xavier Jeunemaitre, A. Patapoutian, 2013, Nature Communications.

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

L. Garçon, N. Mohandas, V. Picard, 2016, Blood.

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

A. Patapoutian, X. Jeunemaître, P. Rohrlich, 2013, Nature Communications.

A mutation in the Gardos channel is associated with hereditary xerocytosis.

Caroline Lacoste, Christophe Béroud, Véronique Picard, 2015, Blood.

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

L. Garçon, F. Girodon, E. Bergoin, 2008, British journal of haematology.

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

S. Perrotta, A. Iolascon, L. Garçon, 2010, Haematologica.

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

L. Garçon, O. Pajot, V. Saada, 2009, Hemoglobin.

To the editor: Age-sex–specific ranges of platelet count and all-cause mortality: prospective findings from the MOLI-SANI study

L. Garçon, N. Mohandas, V. Picard, 2016 .

Congenital dyserythropoietic anaemia, type I, in a Caucasian patient with retinal angioid streaks (homozygous arg1042trp mutation in codanin‐1)

H. Offret, H. Tamary, J. Delaunay, 2008, European journal of haematology.

Congenital dyserythropoietic anemias.

B. Bader-Meunier, J. Delaunay, T. Cynober, 2004, The hematology journal : the official journal of the European Haematology Association.

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

H. Heimpel, A. Iolascon, L. Garçon, 2010, Hemoglobin.

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

M. Raphaël, L. Bruce, V. Picard, 2014, Blood.