Publicaciones en colaboración con investigadores/as de Centro de Investigación Biomédica en Red sobre Enfermedades Raras (9)

2023

  1. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

  2. Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant

    Journal of medical genetics, Vol. 60, Núm. 10, pp. 965-973

2022

  1. Clinical Implications of the Genetic Background in Pediatric Pulmonary Arterial Hypertension: Data from the Spanish REHIPED Registry

    International journal of molecular sciences, Vol. 23, Núm. 18

2021

  1. Polymorphisms in eicosanoid-related biosynthesis enzymes associated with acute urticaria/angioedema induced by nonsteroidal anti-inflammatory drug hypersensitivity

    British Journal of Dermatology, Vol. 185, Núm. 4, pp. 815-824

2017

  1. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia

    Clinical Genetics, Vol. 92, Núm. 1, pp. 91-98

2016

  1. Overexpression of the short endoglin isoform reduces renal fibrosis and inflammation after unilateral ureteral obstruction

    Biochimica et Biophysica Acta - Molecular Basis of Disease, Vol. 1862, Núm. 9, pp. 1801-1814

2010

  1. Rhinitis and its association with Asthma in patients under 14 years of age treated in allergy departments in Spain

    Journal of Investigational Allergology and Clinical Immunology, Vol. 20, Núm. 5, pp. 402-406

2009

  1. Epidemiology of allergic rhinitis in allergy consultations in Spain: Alergológica-2005

    Journal of Investigational Allergology and Clinical Immunology, Vol. 19, Núm. SUPPL. 2, pp. 7-13

2007

  1. A new criterion by which to discriminate between patients with moderate allergic rhinitis and patients with severe allergic rhinitis based on the Allergic Rhinitis and its Impact on Asthma severity items

    Journal of Allergy and Clinical Immunology, Vol. 120, Núm. 2, pp. 359-365