Publicaciones en colaboración con investigadores/as de KU Leuven (20)

2024

  1. European Achondroplasia Forum Practical Considerations for Following Adults with Achondroplasia

    Advances in Therapy

2023

  1. Durability of bioprosthetic aortic valve replacement in patients under the age of 60 years - 1-year follow-up from the prospective INDURE registry

    Interdisciplinary cardiovascular and thoracic surgery, Vol. 37, Núm. 4

  2. European Achondroplasia Forum guiding principles for the detection and management of foramen magnum stenosis

    Orphanet journal of rare diseases, Vol. 18, Núm. 1, pp. 219

  3. Haematic antegrade repriming to enhance recovery after cardiac surgery from the perfusionist side

    Journal of Extra-Corporeal Technology, Vol. 55, Núm. 1, pp. 30-38

  4. Hematic Antegrade Repriming Reduces Emboli on Cardiopulmonary Bypass: A Randomized Controlled Trial

    ASAIO journal (American Society for Artificial Internal Organs : 1992), Vol. 69, Núm. 3, pp. 324-331

2022

  1. EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms

    Journal of Inherited Metabolic Disease, Vol. 45, Núm. 6, pp. 1163-1174

  2. Multi-institutional expert update on the use of laparoscopic bile duct exploration in the management of choledocholithiasis: Lesson learned from 3950 procedures

    Journal of Hepato-Biliary-Pancreatic Sciences, Vol. 29, Núm. 12, pp. 1283-1291

  3. Optimising care and follow-up of adults with achondroplasia

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

  4. Optimising the diagnosis and referral of achondroplasia in Europe: European Achondroplasia Forum best practice recommendations

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

2021

  1. Impact of Bacillus Calmette-Gue´rin (BCG) vaccination on postoperative mortality in patients with perioperative SARS-CoV-2 infection

    BJS Open

  2. Machine learning risk prediction of mortality for patients undergoing surgery with perioperative SARS-CoV-2: The COVIDSurg mortality score

    British Journal of Surgery, Vol. 19, Núm. 4

2020

  1. Durability of bioprosthetic aortic valves in patients under the age of 60 years - Rationale and design of the international INDURE registry

    Journal of Cardiothoracic Surgery, Vol. 15, Núm. 1

2019

  1. Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases

    Journal of Allergy and Clinical Immunology, Vol. 143, Núm. 1, pp. 359-368

2018

  1. Risk factors for unfavourable postoperative outcome in patients with Crohn's disease undergoing right hemicolectomy or ileocaecal resection. An international audit by ESCP and S-ECCO

    Colorectal Disease, Vol. 20, Núm. 3, pp. 219-227

2013

  1. A comprehensive molecular study on coffin-siris and nicolaides-baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling

    Human Molecular Genetics, Vol. 22, Núm. 25, pp. 5121-5135

  2. GPI-anchor and GPI-anchored protein expression in PMM2-CDG patients

    Orphanet Journal of Rare Diseases, Vol. 8, Núm. 1

2012

  1. Reduced elastogenesis: A clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

    Orphanet Journal of Rare Diseases, Vol. 7, Núm. 1

2011

  1. Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia

    Pediatric Rheumatology, Vol. 9

2007

  1. Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: Insight into mechanisms of DNA binding by the GATA3 transcription factor

    Human Molecular Genetics, Vol. 16, Núm. 3, pp. 265-275

  2. Schimke immunoosseous dysplasia: Suggestions of genetic diversity

    Human Mutation, Vol. 28, Núm. 3, pp. 273-283