Geneviève Abéguilé

A New Deletion Ablating NESP55 Causes Loss of Maternal Imprint of A/B<i>GNAS</i>and Autosomal Dominant Pseudohypoparathyroidism Type Ib

Nicolas Richard, Geneviève Abéguilé, Nadia Coudray et al. · The Journal of Clinical Endocrinology & Metabolism · 2012 · 97 citations

Medicine, Endocrinology, Genetics +17

Paternal deletion of the GNAS imprinted locus (including Gnasxl) in two girls presenting with severe pre- and post-natal growth retardation and intractable feeding difficulties

David Geneviève, Damien Sanlaville, Laurence Faivre et al. · European Journal of Human Genetics · 2005 · 80 citations

Medicine, Genetics, Pediatrics +16

Progressive Osseous Heteroplasia: A Model for the Imprinting Effects of GNAS Inactivating Mutations in Humans

M. Lebrun, Nicolas Richard, Geneviève Abéguilé et al. · The Journal of Clinical Endocrinology & Metabolism · 2010 · 78 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Vitamin D–Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

Arnaud Molin, Arnaud Wiedemann, Nick Demers et al. · Journal of Bone and Mineral Research · 2017 · 76 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Expression of estrogen receptors in the pelvic floor of pre- and post-menopausal women presenting pelvic organ prolapse

Monika Zbucka-Krętowska, Naama Marcus-Braun, Cyril Eboué et al. · Folia Histochemica et Cytobiologica · 2011 · 25 citations · Full text

Medicine, Endocrinology, Gynecology +12