Isabelle Gourlaouen

Biallelic variants in <i>MAATS1</i> encoding CFAP91, a calmodulin-associated and spoke-associated complex protein, cause severe astheno-teratozoospermia and male infertility

Guillaume Martinez, Julie Beurois, Denis Dacheux et al. · Journal of Medical Genetics · 2020 · 81 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Structure-Function Analysis of the Human Ferroportin Iron Exporter (SLC40A1): Effect of Hemochromatosis Type 4 Disease Mutations and Identification of Critical Residues

Gérald Le Gac, Chandran Ka, Rozenn Joubrel et al. · Human Mutation · 2013 · 62 citations

Life Sciences, Biochemistry, Molecular Biology +17

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients

Isabelle Callebaut, Rozenn Joubrel, Serge Pissard et al. · Human Molecular Genetics · 2014 · 53 citations

Life Sciences, Genetics, Molecular Genetics +17

A novel missense mutation in <i>SLC40A1</i> results in resistance to hepcidin and confirms the existence of two ferroportin‐associated iron overload diseases

Émilie Létocart, Gérald Le Gac, Silvia Majore et al. · British Journal of Haematology · 2009 · 47 citations

Medicine, Genetics, Molecular Genetics +15

A common SNP near BMP2 is associated with severity of the iron burden in HFE p.C282Y homozygous patients: A follow-up study

Jacqueline Milet, Gérald Le Gac, Virginie Scotet et al. · Blood Cells Molecules and Diseases · 2009 · 36 citations

Life Sciences, Genetics, Molecular Genetics +12