Publications in collaboration with researchers from Massachusetts General Hospital (5)

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

2010

  1. Designing and implementing sample and data collection for an international genetics study: The Type 1 Diabetes Genetics Consortium (T1DGC)

    Clinical Trials, Vol. 7, Núm. 1_suppl, pp. S5-S32

  2. Intragenic GNAS deletion involving exon A/B in pseudohypoparathyroidism type 1A resulting in an apparent loss of exon A/B methylation: Potential for misdiagnosis of pseudohypoparathyroidism type 1B

    Journal of Clinical Endocrinology and Metabolism, Vol. 95, Núm. 2, pp. 765-771

  3. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962

2007

  1. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

    Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 6, pp. 2370-2373