Concepedia

Anne-Sophie Lia-Baldini

AL

Statistics

Publications

8

Citations

647

H-Index

8

Active since

2001

Affiliations

Université de Versailles Saint-Quentin-en-Yvelines(Current)

Université de Limoges

Centre Hospitalier Universitaire de Limoges

Centre Hospitalier de Versailles

Laboratoire de Génétique Cellulaire

Anne-Sophie Lia-Baldini is an author at Université de Versailles Saint-Quentin-en-Yvelines specializing in medicine, biology, and autophagy.

Top concepts

Publications per year

2001–2012

8

Publications

8

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 · 219 citations · Full text

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 · 146 citations · Full text

A molecular approach to dominance in hypophosphatasia

Anne-Sophie Lia-Baldini, Françoise Müller, A. Taillandier et al. · Human Genetics · 2001 · 106 citations

, , +5

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

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

, , +13

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