Publicaciones en colaboración con investigadoras/es de Hospital Ramón y Cajal (15)

2022

  1. Genomic Multiple Sclerosis Risk Variants Modulate the Expression of the ANKRD55–IL6ST Gene Region in Immature Dendritic Cells

    Frontiers in Immunology, Vol. 12

  2. Identification of the genetic mechanism that associates L3MBTL3 to multiple sclerosis

    Human Molecular Genetics, Vol. 31, Núm. 13, pp. 2155-2163

2020

  1. A new risk variant for multiple sclerosis at 11q23.3 locus is associated with expansion of CXCR5+ circulating regulatory T cells

    Journal of Clinical Medicine, Vol. 9, Núm. 3

  2. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants

    The Journal of clinical endocrinology and metabolism, Vol. 105, Núm. 8

  3. NLRP3 inflammasome as prognostic factor and therapeutic target in primary progressive multiple sclerosis patients

    Brain : a journal of neurology, Vol. 143, Núm. 5, pp. 1414-1430

2017

  1. An Activating Mutation in STAT3 results in neonatal diabetes through reduced insulin synthesis

    Diabetes, Vol. 66, Núm. 4, pp. 1022-1029

2016

  1. Analysis of plasminogen genetic variants in multiple sclerosis patients

    G3: Genes, Genomes, Genetics, Vol. 6, Núm. 7, pp. 2073-2079

2015

  1. A functional variant that affects exon-skipping and protein expression of SP140 as genetic mechanism predisposing to multiple sclerosis

    Human Molecular Genetics, Vol. 24, Núm. 19, pp. 5619-5627

  2. Pharmacogenomic study in patients with multiple sclerosis Responders and nonresponders to IFN-β

    Neurology: Neuroimmunology and NeuroInflammation, Vol. 2, Núm. 5, pp. e154

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

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

2009

  1. Severe neonatal insulin-resistance caused by compound heterozygous mutations in the insulin receptor gene

    HORMONE RESEARCH

2008

  1. New mutation type in pseudohypoparathyroidism type Ia

    Clinical Endocrinology, Vol. 69, Núm. 5, pp. 705-712

2007

  1. Panhypopituitarism: Genetic versus acquired etiological factors

    Journal of Pediatric Endocrinology and Metabolism, Vol. 20, Núm. 1, pp. 27-36

  2. The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities

    Diabetic Medicine, Vol. 24, Núm. 7, pp. 707-713