Publicacións en colaboración con investigadores/as de Complexo Hospitalario Universitario de Santiago (68)

2024

  1. Genetic linkage analysis of head and neck cancer in a Spanish family

    Oral Diseases, Vol. 30, Núm. 3, pp. 1032-1039

2020

  1. Clinical and neurophysiological response to ephedrine in a patient affected with slow-channel congenital myasthenic syndrome

    Revista de Neurologia, Vol. 71, Núm. 6, pp. 221-224

  2. Efficacy and toxicity of adjuvant chemotherapy on colorectal cancer patients: how much influence from the genetics?

    Journal of Chemotherapy, pp. 1-13

  3. P.TYR1381X: Are We Facing a New Mutation of CFTR in a Patient With Severe Cystic Fibrosis?

    Archivos de Bronconeumologia, Vol. 56, Núm. 1, pp. 60-62

2019

  1. A qPCR expression assay of IFI44L gene differentiates viral from bacterial infections in febrile children

    Scientific Reports, Vol. 9, Núm. 1

  2. Association of GSTP1 and ERCC1 polymorphisms with toxicity in locally advanced head and neck cancer platinum-based chemoradiotherapy treatment

    Head and Neck, Vol. 41, Núm. 8, pp. 2704-2715

  3. Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders

    American Journal of Medical Genetics, Part A, Vol. 179, Núm. 2, pp. 290-294

2018

  1. Determination and diagnostic value of CA9 mRNA in peripheral blood of patients with oral leukoplakia

    Journal of Enzyme Inhibition and Medicinal Chemistry, Vol. 33, Núm. 1, pp. 951-955

  2. Hypomyelinating leukodystrophy type 6. Clinical and neuroimaging key features in the detection of a new case

    Revista de Neurologia, Vol. 67, Núm. 9, pp. 339-342

  3. V232D mutation in patients with cystic fibrosis Not so rare, not so mild

    Medicine (United States), Vol. 97, Núm. 28

  4. Whole exome sequencing approach to analysis of the origin of cancer stem cells in patients with head and neck squamous cell carcinoma

    Journal of Oral Pathology and Medicine, Vol. 47, Núm. 10, pp. 938-944

2017

  1. Copy number variation analysis of patients with intellectual disability from North-West Spain

    Gene, Vol. 626, pp. 189-199

2016

  1. Aicardi-goutières syndrome due to mutation of the IFIH1 gene with pontine involvement. A case report

    Revista de Neurologia, Vol. 63, Núm. 7, pp. 309-314

2015

  1. A maternally inherited 16p13.11-p12.3 duplication concomitant with a de novo SOX5 deletion in a male patient with global developmental delay, disruptive and obsessive behaviors and minor dysmorphic features

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 6, pp. 1315-1322

  2. Caracterización molecular y descripción fenotípica de dos casos con aberraciones cromosómicas recíprocas en la region de los síndromes de microdeleción/microduplicación 3q29

    Revista de Neurologia, Vol. 61, Núm. 6, pp. 255-260

  3. Clinical characterization of a male patient with the recently described 8q21.11 microdeletion syndrome

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 6, pp. 1369-1373

  4. Deleción en el gen RPS6KA3 en una mujer con un fenotipo clásico del síndrome de Coffin-Lowry incluyendo episodios de caída inducidos por estímulo

    Revista de Neurologia, Vol. 61, Núm. 2, pp. 94-96

  5. Exome-wide pharmacogenomic analysis of response to thiopurines in inflammatory bowel disease patients

    Current Pharmacogenomics and Personalized Medicine, Vol. 13, Núm. 1, pp. 61-67

  6. Interstitial microdeletions including the chromosome band 4q13.2 and the UBA6 gene as possible causes of intellectual disability and behavior disorder

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3113-3120

  7. Long Survival and Severe Toxicity under 5-Fluorouracil-Based Therapy in a Patient with Colorectal Cancer Who Harbors a Germline Codon-Stop Mutation in TYMS

    Mayo Clinic Proceedings, Vol. 90, Núm. 9, pp. 1298-1303