Lauréane Mittaz

Common Mutations in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Patients of Different Origins

Hamish S. Scott, Maarit Heino, Pärt Peterson et al. · Molecular Endocrinology · 1998 · 169 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Aire-Deficient C57BL/6 Mice Mimicking the Common Human 13-Base Pair Deletion Mutation Present with Only a Mild Autoimmune Phenotype

François‐Xavier Hubert, Sarah Kinkel, Pauline E. Crewther et al. · The Journal of Immunology · 2009 · 138 citations · Full text

Life Sciences, Genetics, Immunology +17

Mutation analyses of North American APS-1 patients

Maarit Heino, Hamish S. Scott, Qiao Yi Chen et al. · Human Mutation · 1999 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

DSCR1/RCAN1 regulates vesicle exocytosis and fusion pore kinetics: implications for Down syndrome and Alzheimer's disease

Damien J. Keating, Daphne Dubach, Mark Zanin et al. · Human Molecular Genetics · 2008 · 123 citations

Life Sciences, Neurobiology, Neuroscience +17

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Belinda Campos‐Xavier, Danielle Martinet, John F. Bateman et al. · The American Journal of Human Genetics · 2009 · 112 citations · Full text

Medicine, Genetics, Molecular Genetics +8