Guiomar Pérez de Nanclares

The Human Phenotype Ontology in 2024: phenotypes around the world

Michael Gargano, Nicolas Matentzoglu, Ben Coleman et al. · Nucleic Acids Research · 2023 · 311 citations · Full text

Epigenetic Defects of<i>GNAS</i>in Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy

Guiomar Pérez de Nanclares, Eduardo Fernández‐Rebollo, Izortze Santín et al. · The Journal of Clinical Endocrinology & Metabolism · 2007 · 160 citations · Full text

<i>GATA4</i> Mutations Are a Cause of Neonatal and Childhood-Onset Diabetes

Charles Shaw‐Smith, Elisa De Franco, Hana Lango Allen et al. · Diabetes · 2014 · 127 citations · Full text

<i>PRKAR1A</i>and<i>PDE4D</i>Mutations Cause Acrodysostosis but Two Distinct Syndromes with or without GPCR-Signaling Hormone Resistance

Agnès Linglart, Helena Fryssira, Olaf Hiort et al. · The Journal of Clinical Endocrinology & Metabolism · 2012 · 108 citations · Full text

New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

Eduardo Fernández‐Rebollo, Beatriz Lecumberri, Intza Garin et al. · European Journal of Endocrinology · 2010 · 107 citations