Publicaciones en colaboración con investigadores/as de University of Leipzig (16)

2024

  1. Relevance of genetic testing in the gene-targeted trial era: the Rostock Parkinson’s disease study

    Brain, Vol. 147, Núm. 8, pp. 2652-2667

  2. Type 1 Autoimmune Pancreatitis in Europe: Clinical Profile and Response to Treatment

    Clinical Gastroenterology and Hepatology, Vol. 22, Núm. 5, pp. 994-1004.e10

2023

  1. EFOMP policy statement NO. 19: Dosimetry in nuclear medicine therapy – Molecular radiotherapy

    Physica Medica, Vol. 116

  2. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders

    Brain, Vol. 146, Núm. 8, pp. 3273-3288

2022

  1. PIGN encephalopathy: Characterizing the epileptology

    Epilepsia, Vol. 63, Núm. 4, pp. 974-991

2020

  1. Correlation between non-invasive myocardial work indices and main parameters of systolic and diastolic function: Results from the EACVI NORRE study

    European Heart Journal Cardiovascular Imaging, Vol. 21, Núm. 5, pp. 533-541

2019

  1. Echocardiographic reference ranges for normal non-invasive myocardial work indices: Results from the EACVI NORRE study

    European Heart Journal Cardiovascular Imaging, Vol. 20, Núm. 5, pp. 582-590

2018

  1. Echocardiographic reference ranges for normal left atrial function parameters: Results from the EACVI NORRE study

    European Heart Journal Cardiovascular Imaging, Vol. 19, Núm. 6, pp. 630-638

2017

  1. 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

2014

  1. Echocardiographic reference ranges for normal cardiac chamber size: Results from the NORRE study

    European Heart Journal Cardiovascular Imaging, Vol. 15, Núm. 6, pp. 680-690

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

2012

  1. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

    Cancer Epidemiology Biomarkers and Prevention, Vol. 21, Núm. 4, pp. 645-657

  2. Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers

    Human Mutation, Vol. 33, Núm. 4, pp. 690-702

2010

  1. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: Implications for risk prediction

    Cancer Research, Vol. 70, Núm. 23, pp. 9742-9754

2007

  1. Simultaneous manifestation of fulminant infectious mononucleosis with haemophagocytic syndrome and B-cell lymphoma in X-linked lymphoproliferative disease

    European Journal of Pediatrics, Vol. 166, Núm. 6, pp. 589-593