Publications en collaboration avec des chercheurs de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (7)

2023

  1. A Slc38a8 Mouse Model of FHONDA Syndrome Faithfully Recapitulates the Visual Deficits of Albinism Without Pigmentation Defects

    Investigative ophthalmology & visual science, Vol. 64, Núm. 13, pp. 32

2020

  1. Intranasal delivery of Thyroid hormones in MCT8 deficiency

    PloS one, Vol. 15, Núm. 7, pp. e0236113

2019

  1. Adult Mice Lacking Mct8 and Dio2 Proteins Present Alterations in Peripheral Thyroid Hormone Levels and Severe Brain and Motor Skill Impairments

    Thyroid, Vol. 29, Núm. 11, pp. 1669-1682

2016

  1. Identification of the photoreceptor transcriptional Co-Repressor SAMD11 as novel cause of autosomal recessive retinitis pigmentosa

    Scientific Reports, Vol. 6

2015

  1. Whole-exome sequencing reveals ZNF408 as a new gene associated with autosomal recessive retinitis pigmentosa with vitreal alterations

    Human Molecular Genetics, Vol. 24, Núm. 14, pp. 4037-4048

2010

  1. Role of late maternal thyroid hormones in cerebral cortex development: An experimental model for human prematurity

    Cerebral Cortex, Vol. 20, Núm. 6, pp. 1462-1475

  2. Thyroid hormone regulation of gene expression in the developing rat fetal cerebral cortex: Prominent role of the Ca2+/calmodulin-dependent protein kinase IV pathway

    Endocrinology, Vol. 151, Núm. 2, pp. 810-820