Publicaciones en colaboración con investigadoras/es de University of Paris-Sorbonne (6)

2024

  1. Hypomagnesaemia with varying degrees of extrarenal symptoms as a consequence of heterozygous CNNM2 variants

    Scientific Reports, Vol. 14, Núm. 1

2021

  1. Placental DNA methylation signatures of maternal smoking during pregnancy and potential impacts on fetal growth

    Nature Communications, Vol. 12, Núm. 1

2020

  1. Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

    Hormone Research in Paediatrics, Vol. 93, Núm. 3, pp. 182-196

2018

  1. Diagnosis and management of pseudohypoparathyroidism and related disorders: First international Consensus Statement

    Nature Reviews Endocrinology, Vol. 14, Núm. 8, pp. 476-500

2007

  1. New ABCC8 mutations in relapsing neonatal diabetes and clinical features

    Diabetes, Vol. 56, Núm. 6, pp. 1737-1741

1989

  1. Normal insulin sensitivity during the phase of glucose intolerance but insulin resistance at the onset of diabetes in the spontaneously diabetic BB rat

    Diabetologia, Vol. 32, Núm. 12, pp. 839-844