Bioquímica y Biología Molecular
Departamento
Centro de Investigación Biomédica en Red sobre Enfermedades Raras
Madrid, EspañaPublicaciones en colaboración con investigadoras/es de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (11)
2023
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New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly
Frontiers in Genetics, Vol. 14
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P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease
Neurobiology of Disease, Vol. 177
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The outcome of boosting mitochondrial activity in alcohol-associated liver disease is organ-dependent
Hepatology (Baltimore, Md.), Vol. 78, Núm. 3, pp. 878-895
2020
2019
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DEXI, a candidate gene for type 1 diabetes, modulates rat and human pancreatic beta cell inflammation via regulation of the type I IFN/STAT signalling pathway
Diabetologia, Vol. 62, Núm. 3, pp. 459-472
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Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes
Orphanet Journal of Rare Diseases, Vol. 14, Núm. 1
2015
2012
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Chitinase 3-like 1 plasma levels are increased in patients with progressive forms of multiple sclerosis
Multiple Sclerosis Journal, Vol. 18, Núm. 7, pp. 983-990
2009
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ACTH-dependent precocious pseudopuberty in an infant with DAX1 gene mutation
European Journal of Pediatrics, Vol. 168, Núm. 1, pp. 65-69
2008
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Genética del seudohipoparatiroidismo: Bases para el consejo genético
Endocrinologia y Nutricion, Vol. 55, Núm. 10, pp. 476-483
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New mutation type in pseudohypoparathyroidism type Ia
Clinical Endocrinology, Vol. 69, Núm. 5, pp. 705-712