Publicaciones en colaboración con investigadoras/es de French Institute of Health and Medical Research (9)

2019

  1. Research priorities for European paediatric emergency medicine

    Archives of Disease in Childhood

2016

  1. Hyperechogenic kidneys and polyhydramnios associated with HNF1B gene mutation

    Pediatric Nephrology, Vol. 31, Núm. 10, pp. 1705-1708

  2. Limited beneficial effects of piceatannol supplementation on obesity complications in the obese Zucker rat: gut microbiota, metabolic, endocrine, and cardiac aspects

    Journal of Physiology and Biochemistry, Vol. 72, Núm. 3, pp. 567-582

  3. Potential renoprotective effects of piceatannol in ameliorating the early-stage nephropathy associated with obesity in obese Zucker rats

    Journal of Physiology and Biochemistry, Vol. 72, Núm. 3, pp. 555-566

  4. Social/economic costs and health-related quality of life in patients with histiocytosis in Europe

    European Journal of Health Economics, Vol. 17, pp. 67-78

2014

  1. Highly sensitive diagnosis of 43 monogenic forms of diabetes or obesity through one-step pcrbased enrichment in combination with next-generation sequencing

    Diabetes Care, Vol. 37, Núm. 2, pp. 460-467

2010

  1. Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

    Human Mutation, Vol. 31, Núm. 5

2006

  1. Autosomal dominant pseudohypoaldosteronism type 1: Mechanisms, evidence for neonatal lethality, and phenotypic expression in adults

    Journal of the American Society of Nephrology, Vol. 17, Núm. 5, pp. 1429-1436

  2. Brain MRI abnormalities in muscular dystrophy due to FKRP mutations

    Brain and Development, Vol. 28, Núm. 4, pp. 232-242