Publicaciones en colaboración con investigadores/as de University of Bern (28)

2024

  1. A Novel Mutation in the INSR Gene Causes Severe Insulin Resistance and Rabson–Mendenhall Syndrome in a Paraguayan Patient

    International Journal of Molecular Sciences, Vol. 25, Núm. 6

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

    eBioMedicine, Vol. 99

  3. NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor

    International Journal of Molecular Sciences, Vol. 25, Núm. 18

  4. 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

2022

  1. Global multi-stakeholder endorsement of the MAFLD definition

    The Lancet Gastroenterology and Hepatology

2021

  1. Genetics of human sexual development and related disorders

    Current opinion in pediatrics, Vol. 33, Núm. 6, pp. 556-563

2020

  1. Corrigendum to ‘Global Vascular Guidelines on the Management of Chronic Limb-Threatening Ischemia’ (European Journal of Vascular & Endovascular Surgery (2019) 58(1S) (S1–S109.e33), (S1078588419303806), (10.1016/j.ejvs.2019.05.006))

    European Journal of Vascular and Endovascular Surgery

  2. Corrigendum to “Global Vascular Guidelines on the Management of Chronic Limb-Threatening Ischaemia” [Eur J Vasc Endovasc Surg 58 (1S) (2019) 1–109>] (European Journal of Vascular & Endovascular Surgery (2019) 58(1S) (S1–S109.e33), (S1078588419303806), (10.1016/j.ejvs.2019.05.006))

    European Journal of Vascular and Endovascular Surgery

  3. 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

  3. Editor's Choice – European Society for Vascular Surgery (ESVS) 2019 Clinical Practice Guidelines on the Management of Abdominal Aorto-iliac Artery Aneurysms

    European Journal of Vascular and Endovascular Surgery, Vol. 57, Núm. 1, pp. 8-93

  4. Global Vascular Guidelines on the Management of Chronic Limb-Threatening Ischemia

    European Journal of Vascular and Endovascular Surgery, Vol. 58, Núm. 1, pp. S1-S109.e33

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. Analysis of plasminogen genetic variants in multiple sclerosis patients

    G3: Genes, Genomes, Genetics, Vol. 6, Núm. 7, pp. 2073-2079

  2. Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

    Autophagy

  3. Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

    Autophagy, Vol. 12, Núm. 1, pp. 1-222

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

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