Madeleine Fénéant‐Thibault

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

Juliette Albuisson, Swetha E. Murthy, Michael Bandell et al. · Nature Communications · 2013 · 383 citations · Full text

Natural Sciences, Genetics, Molecular Genetics +14

A mutation in the Gardos channel is associated with hereditary xerocytosis

Raphaël Rapetti‐Mauss, Caroline Lacoste, Véronique Picard et al. · Blood · 2015 · 119 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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

Achille Iolascon, Roberta Russo, Maria Rosaria Esposito et al. · Haematologica · 2009 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Cécile Alanio, Pierre–Olivier Schischmanoff, Madeleine Fénéant‐Thibault et al. · American Journal of Hematology · 2007 · 19 citations

Medicine, Genetics, Hematology +14

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

Hannah Tamary, H Offret, Orly Dgany et al. · European Journal Of Haematology · 2007 · 18 citations

Medicine, Genetics, Hematology +10