Paolo Bordogna

The Prevalence of GNAS Deficiency-Related Diseases in a Large Cohort of Patients Characterized by the EuroPHP Network

Francesca Marta Elli, Agnès Linglart, Intza Garin et al. · The Journal of Clinical Endocrinology & Metabolism · 2016 · 86 citations · Full text

Life Sciences, Endocrinology, Genetics +13

Autosomal Dominant Pseudohypoparathyroidism Type Ib: A Novel Inherited Deletion Ablating<i>STX16</i>Causes Loss of Imprinting at the A/B DMR

Francesca Marta Elli, Luisa De Sanctis, Erika Peverelli et al. · The Journal of Clinical Endocrinology & Metabolism · 2014 · 76 citations · Full text

Medicine, Endocrinology, Genetics +17

Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of<i>GNAS</i>Inactivating Mutations

Francesca Marta Elli, Luisa deSanctis, Barbara Ceoloni et al. · Human Mutation · 2012 · 75 citations · Full text

Medicine, Endocrinology, Genetics +16

Novel Microdeletions Affecting the GNAS Locus in Pseudohypoparathyroidism: Characterization of the Underlying Mechanisms

Intza Garin, Francesca Marta Elli, Agnès Linglart et al. · The Journal of Clinical Endocrinology & Metabolism · 2015 · 58 citations · Full text

Medicine, Endocrinology, Genetics +17

Screening of <i>PRKAR1A</i> and <i>PDE4D</i> in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism

Francesca Marta Elli, Paolo Bordogna, Luisa De Sanctis et al. · Journal of Bone and Mineral Research · 2016 · 53 citations · Full text

Life Sciences, Endocrinology, Molecular Genetics +17