Publicacións en colaboración con investigadores/as de Universidade de Santiago de Compostela (77)

2024

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

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

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. 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

  2. Molecular and clinical characterization of a novel nonsense variant in exon 1 of the upf3b gene found in a large spanish basque family (Mrx82)

    Frontiers in Genetics, Vol. 10, Núm. OCT

  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. Mutational analysis of CFTR in the Ecuadorian population using next-generation sequencing

    Gene, Vol. 696, pp. 28-32

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

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

  3. 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. Delimiting allelic imbalance of TYMS by allele-specific analysis

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

  5. 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

  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

2014

  1. Progressive heterotopic ossification: The arduousness of an accurate diagnosis

    Journal of Pediatrics, Vol. 164, Núm. 1, pp. 203-204