Publicaciones en colaboración con investigadores/as de University of Turin (19)

2024

  1. Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Clinical Epigenetics, Vol. 16, Núm. 1

2021

  1. Inactivating PTH/PTHrP signaling disorders (iPPSDs): Evaluation of the new classification in a multicenter large series of 544 molecularly characterized patients

    European Journal of Endocrinology, Vol. 184, Núm. 2, pp. 311-320

  2. Mrna-based nanomedicinal products to address corneal inflammation by interleukin-10 supplementation

    Pharmaceutics, Vol. 13, Núm. 9

2020

  1. Evolving the comprehensive management of rheumatoid arthritis: identification of unmet needs and development of practical and educational tools

    Clinical and experimental rheumatology, Vol. 38, Núm. 6, pp. 1056-1067

  2. Gene Therapy

    Advances in Biochemical Engineering/Biotechnology (Springer), pp. 321-368

  3. 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

  4. Topical administration of sln-based gene therapy for the treatment of corneal inflammation by de novo il-10 production

    Pharmaceutics, Vol. 12, Núm. 6, pp. 1-23

2018

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

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

  2. Gene delivery in the cornea: In vitro & ex vivo evaluation of solid lipid nanoparticle-based vectors

    Nanomedicine, Vol. 13, Núm. 15, pp. 1847-1864

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

    Journal of Bone and Mineral Research, Vol. 33, Núm. 8, pp. 1480-1488

  4. Ocular delivery of solid lipid nanoparticles

    Lipid Nanocarriers for Drug Targeting (Elsevier), pp. 269-312

2016

  1. Application of lipid nanoparticles to ocular drug delivery

    Expert Opinion on Drug Delivery, Vol. 13, Núm. 12, pp. 1743-1757

  2. From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network

    European Journal of Endocrinology, Vol. 175, Núm. 6, pp. P1-P17

  3. The prevalence of GNAS deficiency-related diseases in a large cohort of patients characterized by the EuroPHP network

    Journal of Clinical Endocrinology and Metabolism, Vol. 101, Núm. 10, pp. 3657-3668

2015

  1. European guidance for the molecular diagnosis of pseudohypoparathyroidism not caused by point genetic variants at GNAS: An EQA study

    European Journal of Human Genetics, Vol. 23, Núm. 4, pp. 438-444

  2. Novel microdeletions affecting the GNAS locus in pseudohypoparathyroidism: Characterization of the underlying mechanisms

    Journal of Clinical Endocrinology and Metabolism, Vol. 100, Núm. 4, pp. E681-E687

  3. Undetectable HCV-RNA at treatment-week 8 results in high-sustained virological response in HCV G1 treatment-experienced patients with advanced liver disease: The International Italian/Spanish Boceprevir/Peginterferon/Ribavirin Name Patients Program

    Journal of Viral Hepatitis, Vol. 22, Núm. 5, pp. 469-480

2014

  1. A global analysis of Y-chromosomal haplotype diversity for 23 STR loci

    Forensic Science International: Genetics, Vol. 12, pp. 12-23

1993

  1. The (8-thiotheophyllinate) (triphenylphosphine) gold (1), (tTAUP): a new gold complex as an anticancer agent

    Biomedicine and Pharmacotherapy, Vol. 47, Núm. 9, pp. 363-370