Publicaciones en colaboración con investigadores/as de Universidade Do Porto (21)

2024

  1. FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea

    Reproductive Biology and Endocrinology, Vol. 22, Núm. 1

2023

  1. Clinical Features and Outcomes of Tubulointerstitial Nephritis and Uveitis Syndrome in Spain and Portugal: The IBERTINU Project

    Ocular Immunology and Inflammation, Vol. 31, Núm. 2, pp. 286-291

  2. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

    The Lancet. Oncology, Vol. 24, Núm. 1, pp. 91-106

2021

  1. Author Correction: Identification of CRF89_BF, a new member of an HIV-1 circulating BF intersubtype recombinant form family widely spread in South America (Scientific Reports, (2021), 11, 1, (11442), 10.1038/s41598-021-90023-x)

    Scientific Reports

  2. European League against Rheumatism (EULAR)/American College of Rheumatology (ACR) SLE classification criteria item performance

    Annals of the Rheumatic Diseases, Vol. 80, Núm. 6, pp. 775-781

  3. Identification of CRF89_BF, a new member of an HIV-1 circulating BF intersubtype recombinant form family widely spread in South America

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation

    Journal of Inherited Metabolic Disease, Vol. 43, Núm. 4, pp. 671-693

  2. Performance of the 2019 EULAR/ACR classification criteria for systemic lupus erythematosus in early disease, across sexes and ethnicities

    Annals of the Rheumatic Diseases, Vol. 79, Núm. 10, pp. 1333-1339

2019

  1. 2019 European League Against Rheumatism/American College of Rheumatology classification criteria for systemic lupus erythematosus

    Annals of the Rheumatic Diseases, Vol. 78, Núm. 9, pp. 1151-1159

2017

  1. Diagnostic accuracy of a clinical diagnosis of idiopathic pulmonary fibrosis: An international case-cohort study

    European Respiratory Journal, Vol. 50, Núm. 2

  2. Global, regional, and national age-sex specifc mortality for 264 causes of death, 1980-2016: A systematic analysis for the Global Burden of Disease Study 2016

    The Lancet, Vol. 390, Núm. 10100, pp. 1151-1210

  3. Global, regional, and national under-5 mortality, adult mortality, age-specific mortality, and life expectancy, 1970-2016: A systematic analysis for the Global Burden of Disease Study 2016

    The Lancet, Vol. 390, Núm. 10100, pp. 1084-1150

  4. Healthcare access and quality index based on mortality from causes amenable to personal health care in 195 countries and territories, 1990-2015: A novel analysis from the global burden of disease study 2015

    The Lancet, Vol. 390, Núm. 10091, pp. 231-266

  5. Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer

    Nature Genetics, Vol. 49, Núm. 12, pp. 1767-1778

2015

  1. Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer

    JAMA - Journal of the American Medical Association, Vol. 313, Núm. 13, pp. 1347-1361

  2. Global, regional, and national comparative risk assessment of 79 behavioural, environmental and occupational, and metabolic risks or clusters of risks in 188 countries, 1990-2013: A systematic analysis for the Global Burden of Disease Study 2013

    The Lancet, Vol. 386, Núm. 10010, pp. 2287-2323

  3. Global, regional, and national disability-adjusted life years (DALYs) for 306 diseases and injuries and healthy life expectancy (HALE) for 188 countries, 1990-2013: Quantifying the epidemiological transition

    The Lancet, Vol. 386, Núm. 10009, pp. 2145-2191

  4. 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

  5. Morbidity and mortality in the antiphospholipid syndrome during a 10-year period: A multicentre prospective study of 1000 patients

    Annals of the Rheumatic Diseases, Vol. 74, Núm. 6, pp. 1011-1018

2013

  1. Normal Reference Ranges for Echocardiography: Rationale, study design, and methodology (NORRE Study)

    European Heart Journal Cardiovascular Imaging, Vol. 14, Núm. 4, pp. 303-308