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Genome Biology|August 8, 2009
Whole genome sequencing of a single Bos taurus animal for single nucleotide polymorphism discoverySebastian H Eck, Anna Benet-Pagès, Krzysztof Flisikowski, et al.Bone|February 1, 2022
A novel deletion involving the first GNAS exon encoding Gsα causes PHP1A without methylation changes at exon A/BDevon Campbell, Monica Reyes, Sare Betul Kaygusuz, et al.Endocrinology|December 20, 2003
Identification and characterization of two parathyroid hormone-like molecules in zebrafishRobert C Gensure, Bhaskar Ponugoti, Yasemin Gunes, et al.The EMBO Journal|December 16, 2006
Dosage-dependent switch from G protein-coupled to G protein-independent signaling by a GPCRYutong Sun, Jianyun Huang, Yang Xiang, et al.The Journal of Clinical Endocrinology and Metabolism|June 28, 2008
Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidismMichael Mannstadt, Guylène Bertrand, Mihaela Muresan, et al.The Journal of Clinical Endocrinology and Metabolism|October 16, 2008
Hypophosphatemia with elevations in serum fibroblast growth factor 23 in a child with Jansen's metaphyseal chondrodysplasiaWhitney W Brown, Harald Jüppner, Craig B Langman, et al.Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|June 30, 2011
Parathyroid hormone signaling via Gαs is selectively inhibited by an NH(2)-terminally truncated Gαs: implications for pseudohypoparathyroidismSvetlana Puzhko, Cynthia Gates Goodyer, Mohammad Amin Kerachian, et al.Endocrinology|March 22, 2013
Activation of a non-cAMP/PKA signaling pathway downstream of the PTH/PTHrP receptor is essential for a sustained hypophosphatemic response to PTH infusion in male miceJun Guo, Lige Song, Minlin Liu, et al.The Journal of Clinical Endocrinology and Metabolism|January 21, 2015
Loss of methylation at GNAS exon A/B is associated with increased intrauterine growthAnne-Claire Bréhin, Cindy Colson, Stéphanie Maupetit-Méhouas, et al.European Journal of Human Genetics : EJHG|July 9, 2015
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activationAnja K Mayer, Klaus Rohrschneider, Tim M Strom, et al.Pageof 49