Anne-Sophie Lia-Baldini

Structural Evidence for a Functional Role of Human Tissue Nonspecific Alkaline Phosphatase in Bone Mineralization

Étienne Mornet, E.A. Stura, Anne-Sophie Lia-Baldini et al. · Journal of Biological Chemistry · 2001 · 220 citations · Full text

Medicine, Biochemistry, Molecular Biology +17

Mild forms of hypophosphatasia mostly result from dominant negative effect of severe alleles or from compound heterozygosity for severe and moderate alleles

Delphine Fauvert, Isabelle Brun‐Heath, Anne-Sophie Lia-Baldini et al. · BMC Medical Genetics · 2009 · 148 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

A molecular approach to dominance in hypophosphatasia

Anne-Sophie Lia-Baldini, Françoise Müller, A. Taillandier et al. · Human Genetics · 2001 · 107 citations

Life Sciences, Genetics, Molecular Biology +2

Twelve novel mutations in the tissue-nonspecific alkaline phosphatase gene (ALPL) in patients with various forms of hypophosphatasia

A. Taillandier, Anne-Sophie Lia-Baldini, M. Mouchard et al. · Human Mutation · 2001 · 60 citations · Full text

Medicine, Genetics, Molecular Genetics +17

A new mechanism of dominance in hypophosphatasia: the mutated protein can disturb the cell localization of the wild-type protein

Anne-Sophie Lia-Baldini, Isabelle Brun‐Heath, Claire Carrion et al. · Human Genetics · 2008 · 43 citations

Life Sciences, Cell Biology, Genetics +5