Publications en collaboration avec des chercheurs 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