- Ciències Mèdiques Bàsiques
Departamento
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Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (10)
2023
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An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants
Journal of Molecular Diagnostics, Vol. 25, Núm. 9, pp. 692-701
2022
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Cardiac fibroblasts display endurance to ischemia, high ROS control and elevated respiration regulated by the JAK2/STAT pathway
FEBS Journal, Vol. 289, Núm. 9, pp. 2540-2561
2021
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Clinical consequences of BRCA2 hypomorphism
npj Breast Cancer, Vol. 7, Núm. 1
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PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia
Neurobiology of Disease, Vol. 148
2020
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Gefitinib and afatinib show potential efficacy for fanconi anemia-related head and neck cancer
Clinical Cancer Research, Vol. 26, Núm. 12, pp. 3044-3057
2019
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Loss of glutathione redox homeostasis impairs proteostasis by inhibiting autophagy-dependent protein degradation
Cell Death and Differentiation, Vol. 26, Núm. 9, pp. 1545-1565
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Mitochondrial m.13513G > A Point Mutation in ND5 in a 16-Year-Old Man with Leber Hereditary Optic Neuropathy Detected by Next-Generation Sequencing
JOURNAL OF PEDIATRIC GENETICS, Vol. 8, Núm. 4, pp. 231-234
2016
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Premalignant SOX2 overexpression in the fallopian tubes of ovarian cancer patients: Discovery and validation studies
EBioMedicine, Vol. 10, pp. 137-149
2012
2010
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Overexpression and activation of EGFR and VEGFR2 in medullary thyroid carcinomas is related to metastasis
Endocrine-Related Cancer, Vol. 17, Núm. 1, pp. 7-16