New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidismEduardo Fernández‐Rebollo, Guiomar Pérez de Nanclares, Luís Castaño et al.|European Journal of Endocrinology|2010Cited by 107
Endocrine Profile and Phenotype-(Epi)Genotype Correlation in Spanish Patients with PseudohypoparathyroidismEduardo Fernández‐Rebollo, Beatriz Lecumberri, Sonia Gaztambide et al.|The Journal of Clinical Endocrinology & Metabolism|2013Cited by 49
Exclusion of the <i>GNAS</i> locus in PHP-Ib patients with broad <i>GNAS</i> methylation changes: Evidence for an autosomal recessive form of PHP-Ib?Eduardo Fernández‐Rebollo, Harald Jüppner, Guiomar Pérez de Nanclares et al.|Journal of Bone and Mineral Research|2011Cited by 41
Coexistence of two different pseudohypoparathyroidism subtypes (Ia and Ib) in the same kindred with independent Gsα coding mutations and <i>GNAS</i> imprinting defectsBeatriz Lecumberri, Murat Bastepe, Guiomar Pérez de Nanclares et al.|Journal of Medical Genetics|2009Cited by 38