Publications en collaboration avec des chercheurs de Hospital Virgen del Camino (19)

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Distinct molecular profile of IRF4-rearranged large B-cell lymphoma

    Blood, Vol. 135, Núm. 4, pp. 274-286

  2. RNU6-1 in circulating exosomes differentiates GBM from non-neoplastic brain lesions and PCNSL but not from brain metastases

    Neuro-Oncology Advances, Vol. 2, Núm. 1

2018

  1. A possible role for fumagillin in cellular damage during host infection by Aspergillus fumigatus

    Virulence, Vol. 9, Núm. 1, pp. 1548-1561

2016

  1. Homeobox NKX2-3 promotes marginal-zone lymphomagenesis by activating B-cell receptor signalling and shaping lymphocyte dynamics

    Nature Communications, Vol. 7

2014

  1. A small noncoding RNA signature found in exosomes of GBM patient serum as a diagnostic tool

    Neuro-Oncology, Vol. 16, Núm. 4, pp. 520-527

2012

  1. Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 6

  2. Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain

    Clinical Endocrinology, Vol. 76, Núm. 5, pp. 719-724

  3. PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance

    Journal of Clinical Endocrinology and Metabolism, Vol. 97, Núm. 12

2011

  1. Exclusion of the GNAS locus in PHP-Ib patients with broad GNAS methylation changes: Evidence for an autosomal recessive form of PHP-Ib?

    Journal of Bone and Mineral Research, Vol. 26, Núm. 8, pp. 1854-1863

2010

  1. A regulatory single nucleotide polymorphism in the ubiquitin D gene associated with celiac disease

    Human Immunology, Vol. 71, Núm. 1, pp. 96-99

  2. New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

    European Journal of Endocrinology, Vol. 163, Núm. 6, pp. 953-962

2008

  1. Haploinsufficiency at GCK gene is not a frequent event in MODY2 patients

    Clinical Endocrinology, Vol. 68, Núm. 6, pp. 873-878

2007

  1. Epigenetic defects of GNAS in patients with pseudohypoparathyroidism and mild features of Albright's hereditary osteodystrophy

    Journal of Clinical Endocrinology and Metabolism, Vol. 92, Núm. 6, pp. 2370-2373

  2. Panhypopituitarism: Genetic versus acquired etiological factors

    Journal of Pediatric Endocrinology and Metabolism, Vol. 20, Núm. 1, pp. 27-36

1991

  1. PRIMARY GALLBLADDER CARCINOMA - IMAGING FINDINGS IN 50 PATIENTS WITH PATHOLOGICAL CORRELATION

    GASTROINTESTINAL RADIOLOGY, Vol. 16, Núm. 2, pp. 143-148

1990

  1. ACOUSTIC ARTIFACTS AND REVERBERATION SHADOWS IN GALLBLADDER SONOGRAMS - THEIR CAUSE AND CLINICAL IMPLICATIONS

    GASTROINTESTINAL RADIOLOGY, Vol. 15, Núm. 3, pp. 223-228

1989

  1. INFLAMMATORY PSEUDOTUMOR OF THE SPLEEN - ULTRASOUND AND COMPUTED TOMOGRAPHIC FINDINGS

    GASTROINTESTINAL RADIOLOGY, Vol. 14, Núm. 2, pp. 181-183