Publicaciones en colaboración con investigadores/as de University of Bern (17)

2024

  1. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development

    eBioMedicine, Vol. 99

  2. The “Woundosome” Concept and Its Impact on Procedural Outcomes in Patients With Chronic Limb-Threatening Ischemia

    Journal of Endovascular Therapy

2023

  1. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations

    PloS one, Vol. 18, Núm. 7, pp. e0287515

2020

  1. Standardization of Nomenclature for Ocular Tuberculosis–Results of Collaborative Ocular Tuberculosis Study (COTS) Workshop

    Ocular Immunology and Inflammation, Vol. 28, Núm. sup1, pp. 74-84

2019

  1. Broad Phenotypes of Disorders/Differences of Sex Development in MAMLD1 Patients Through Oligogenic Disease

    Frontiers in Genetics, Vol. 10

  2. Clinical and genetic characteristics of late-onset Huntington's disease

    Parkinsonism and Related Disorders, Vol. 61, pp. 101-105

2018

  1. Reduced Cancer Incidence in Huntington's Disease: Analysis in the Registry Study

    Journal of Huntington's Disease, Vol. 7, Núm. 3, pp. 209-222

2017

  1. Cognitive decline in Huntington's disease expansion gene carriers

    Cortex, Vol. 95, pp. 51-62

2016

  1. Liver Retransplantation in Patients with HIV-1 Infection: An International Multicenter Cohort Study

    American Journal of Transplantation, Vol. 16, Núm. 2, pp. 679-687

2015

  1. Global, regional, and national incidence, prevalence, and years lived with disability for 301 acute and chronic diseases and injuries in 188 countries, 1990-2013: A systematic analysis for the Global Burden of Disease Study 2013

    The Lancet, Vol. 386, Núm. 9995, pp. 743-800

  2. State of the art: Reproduction and pregnancy in rheumatic diseases

    Autoimmunity Reviews, Vol. 14, Núm. 5, pp. 376-386

2013

  1. Serotype-Specific Changes in Invasive Pneumococcal Disease after Pneumococcal Conjugate Vaccine Introduction: A Pooled Analysis of Multiple Surveillance Sites

    PLoS Medicine, Vol. 10, Núm. 9

  2. Suicidal ideation in a European Huntington's disease population

    Journal of Affective Disorders, Vol. 151, Núm. 1, pp. 248-258

  3. The V471A Polymorphism in Autophagy-Related Gene ATG7 Modifies Age at Onset Specifically in Italian Huntington Disease Patients

    PLoS ONE, Vol. 8, Núm. 7

2010

  1. Effect of nateglinide on the incidence of diabetes and cardiovascular events

    New England Journal of Medicine, Vol. 362, Núm. 16, pp. 1463-1476

  2. Effect of valsartan on the incidence of diabetes and cardiovascular events

    New England Journal of Medicine, Vol. 362, Núm. 16, pp. 1477-1490

2005

  1. ESHRE guideline for the diagnosis and treatment of endometriosis

    Human Reproduction, Vol. 20, Núm. 10, pp. 2698-2704