All Stories

  1. Genetic and Epigenetic Defects at the GNAS Locus Lead to Distinct Patterns of Skeletal Growth but Similar Early-Onset Obesity

    Article • Journal of Bone and Mineral Research, June 2018, Wiley

    Francesca Marta Elli, marie-laure kottler

  2. Vitamin D-Dependent Rickets Type 1B (25-Hydroxylase Deficiency): A Rare Condition or a Misdiagnosed Condition?

    Article • Journal of Bone and Mineral Research, July 2017, Wiley

    marie-laure kottler

  3. Improved Screening Test for Idiopathic Infantile Hypercalcemia Confirms Residual Levels of Serum 24,25-(OH)2D3in Affected Patients

    Article • Journal of Bone and Mineral Research, April 2017, Wiley

    marie-laure kottler

  4. A Large Inversion InvolvingGNASExon A/B and All Exons Encoding Gsα Is Associated With Autosomal Dominant Pseudohypoparathyroidism Type Ib (PHP1B)

    Article • Journal of Bone and Mineral Research, February 2017, Wiley

    marie-laure kottler, Daniel Nilsson

  5. CYP24A1Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait

    Article • The Journal of Clinical Endocrinology & Metabolism, October 2015, Endocrine Society

    marie-laure kottler

  6. Is Vitamin D a Key Factor in Muscle Health?

    Article • Endocrinology, November 2013, Endocrine Society

    marie-laure kottler

  7. PaternalGNASMutations Lead to Severe Intrauterine Growth Retardation (IUGR) and Provide Evidence for a Role of XLαs in Fetal Development

    Article • The Journal of Clinical Endocrinology & Metabolism, September 2013, Endocrine Society

    marie-laure kottler