Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (11)

2024

  1. Recommendations for the future management of thrombocytopenia in patients with liver cirrhosis: A modified RAND/UCLA appropriateness method

    Gastroenterologia y Hepatologia, Vol. 47, Núm. 1, pp. 32-50

2023

  1. BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis

    Gastroenterology, Vol. 165, Núm. 1, pp. 162-172.e5

2017

  1. Candidate predisposing germline copy number variants in early onset colorectal cancer patients

    Clinical and Translational Oncology, Vol. 19, Núm. 5, pp. 625-632

  2. Phenotypical features of a new dominant GDAP1 pathogenic variant (p.R226del) in axonal Charcot-Marie-Tooth disease

    Neuromuscular Disorders, Vol. 27, Núm. 7, pp. 667-672

2016

  1. Association of a let-7 miRNA binding region of TGFBR1 with hereditary mismatch repair proficient colorectal cancer (MSS HNPCC)

    Carcinogenesis, Vol. 37, Núm. 8, pp. 751-758

2014

  1. High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families

    Clinical Genetics, Vol. 85, Núm. 6, pp. 583-588

2013

  1. BMP2/BMP4 colorectal cancer susceptibility loci in northern and southern european populations

    Carcinogenesis, Vol. 34, Núm. 2, pp. 314-318

  2. BMPR1A mutations in early-onset colorectal cancer with mismatch repair proficiency

    Clinical Genetics

2012

  1. 'Costa da Morte' ataxia is spinocerebellar ataxia 36: Clinical and genetic characterization

    Brain, Vol. 135, Núm. 5, pp. 1423-1435

2011

  1. Reverse phase protein microarrays quantify and validate the bioenergetic signature as biomarker in colorectal cancer

    Cancer Letters, Vol. 311, Núm. 2, pp. 210-218

2010

  1. Association study of the serotoninergic system in migraine in the Spanish population

    American Journal of Medical Genetics, Part B: Neuropsychiatric Genetics, Vol. 153, Núm. 1, pp. 177-184