Guiomar Pérez de Nanclares
Hospital Universitario Araba(ES)
Publications by Year
Research Areas
Genetic Syndromes and Imprinting, Congenital heart defects research, Genomics and Rare Diseases, Epigenetics and DNA Methylation, Pancreatic function and diabetes
Most-Cited Works
- → Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement(2018)329 cited
- → Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci(2015)210 cited
- → Recessive mutations in the INS gene result in neonatal diabetes through reduced insulin biosynthesis(2010)208 cited
- → From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network(2016)168 cited
- → Epigenetic Defects ofGNASin Patients with Pseudohypoparathyroidism and Mild Features of Albright’s Hereditary Osteodystrophy(2007)161 cited
- → Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications(2021)155 cited