M. Le Merrer

Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

Anne-Sixtine Jobert, Alain Couvineau, Jacky Bonaventure et al. · Journal of Clinical Investigation · 1998 · 329 citations · Full text

Medicine, Genetics, Molecular Genetics +16

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

Pascale de Lonlay, Nathalie Séta, Sandrine Vuillaumier Barrot et al. · Journal of Medical Genetics · 2001 · 224 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Common mutations in the fibroblast growth factor receptor 3 (FGFR3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism

Jacky Bonaventure, F. Rousseau, Laurence Legeai‐Mallet et al. · American Journal of Medical Genetics · 1996 · 135 citations

Life Sciences, Genetics, Molecular Genetics +15

Clinical and genetic heterogeneity of hypochondroplasia.

F. Rousseau, Jacky Bonaventure, Laurence Legeai‐Mallet et al. · Journal of Medical Genetics · 1996 · 134 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia

Étienne Mornet, A. Taillandier, S Peyramaure et al. · European Journal of Human Genetics · 1998 · 125 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12