Publicaciones en colaboración con investigadoras/es de Radboud University Nijmegen Medical Centre (36)

2023

  1. Germline mutations in WNK2 could be associated with serrated polyposis syndrome

    Journal of Medical Genetics, Vol. 60, Núm. 6, pp. 557-567

2022

  1. Current clinical practice for thromboprophylaxis management in patients with Cushing’s syndrome across reference centers of the European Reference Network on Rare Endocrine Conditions (Endo-ERN)

    Orphanet Journal of Rare Diseases, Vol. 17, Núm. 1

  2. Genetics, pathobiology and therapeutic opportunities of polycystic liver disease

    Nature Reviews Gastroenterology and Hepatology, Vol. 19, Núm. 9, pp. 585-604

  3. Targeting NAE1-mediated protein hyper-NEDDylation halts cholangiocarcinogenesis and impacts on tumor-stroma crosstalk in experimental models

    Journal of Hepatology, Vol. 77, Núm. 1, pp. 177-190

2021

  1. Genome-wide analysis of 53,400 people with irritable bowel syndrome highlights shared genetic pathways with mood and anxiety disorders

    Nature Genetics, Vol. 53, Núm. 11, pp. 1543-1552

  2. Inhibition of NAE-dependent protein hyper-NEDDylation in cystic cholangiocytes halts cystogenesis in experimental models of polycystic liver disease

    United European Gastroenterology Journal, Vol. 9, Núm. 7, pp. 848-859

  3. Targeting UBC9-mediated protein hyper-SUMOylation in cystic cholangiocytes halts polycystic liver disease in experimental models

    Journal of Hepatology, Vol. 74, Núm. 2, pp. 394-406

2020

  1. 2018 updated European League against Rheumatism evidence-based recommendations for the diagnosis of gout

    Annals of the Rheumatic Diseases, Vol. 79, Núm. 1, pp. 31-38

  2. Personalised surveillance for serrated polyposis syndrome: Results from a prospective 5-year international cohort study

    Gut, Vol. 69, Núm. 1, pp. 112-121

  3. Proteostasis disturbances and endoplasmic reticulum stress contribute to polycystic liver disease: New therapeutic targets

    Liver International, Vol. 40, Núm. 7, pp. 1670-1685

  4. Systematic genetic analysis of early-onset gout: ABCG2 is the only associated locus

    Rheumatology (United Kingdom), Vol. 59, Núm. 9, pp. 2544-2549

2019

  1. Gout

    Nature Reviews Disease Primers, Vol. 5, Núm. 1

  2. Gout, Hyperuricaemia and Crystal-Associated Disease Network (G-CAN) consensus statement regarding labels and definitions of disease states of gout

    Annals of the Rheumatic Diseases, Vol. 78, Núm. 11, pp. 1592-1600

  3. Low Incidence of Advanced Neoplasia in Serrated Polyposis Syndrome After (Sub)total Colectomy: Results of a 5-Year International Prospective Cohort Study

    American Journal of Gastroenterology, Vol. 114, Núm. 9, pp. 1512-1519

2018

  1. Female-Specific Association Between Variants on Chromosome 9 and Self-Reported Diagnosis of Irritable Bowel Syndrome

    Gastroenterology, Vol. 155, Núm. 1, pp. 168-179

  2. MicroRNAs and extracellular vesicles in cholangiopathies

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1864, Núm. 4, pp. 1293-1307

2017

  1. 2016 updated EULAR evidence-based recommendations for the management of gout

    Annals of the Rheumatic Diseases, Vol. 76, Núm. 1, pp. 29-42

  2. New Advances in Polycystic Liver Diseases

    Seminars in Liver Disease

  3. Performance of Ultrasound in the Diagnosis of Gout in a Multicenter Study: Comparison With Monosodium Urate Monohydrate Crystal Analysis as the Gold Standard

    Arthritis and Rheumatology, Vol. 69, Núm. 2, pp. 429-438

2016

  1. Diagnostic arthrocentesis for suspicion of gout is safe and well tolerated

    Journal of Rheumatology, Vol. 43, Núm. 1, pp. 150-153