Publicacións nas que colabora con Francisco Barros Angueira (96)

2022

  1. Trio-based exome sequencing reveals a high rate of the de novo variants in intellectual disability

    European Journal of Human Genetics, Vol. 30, Núm. 8, pp. 938-945

2020

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

    Journal of Chemotherapy, pp. 1-13

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. Mutación de novo en heterocigosis en el gen MBD5 asociada a heterotopía en banda bilateral y polimicrogiria

    Revista de neurologia, Vol. 69, Núm. 12, pp. 492-496

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

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

  2. 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

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. Delimiting allelic imbalance of TYMS by allele-specific analysis

    Medicine (United States), Vol. 94, Núm. 27, pp. e1091

  6. 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

  7. Female patient with autistic disorder, intellectual disability, and co-morbid anxiety disorder: Expanding the phenotype associated with the recurrent 3q13.2-q13.31 microdeletion

    American Journal of Medical Genetics, Part A, Vol. 167, Núm. 12, pp. 3121-3129

  8. 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

  9. 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

  10. P21Waf1/CIP1 is a poor diagnostic and prognostic marker for OSCC although its expression increases in patients with N1 regional metastasis

    Cancer Biomarkers, Vol. 15, Núm. 1, pp. 19-26

  11. The use of CA-IX as a diagnostic method for oral leukoplakia

    Biotechnic and Histochemistry, Vol. 90, Núm. 2, pp. 124-131