Publicaciones (34) Publicaciones de OLATZ VILLATE BEJARANO

2024

  1. Cancer is not a risk factor for severe COVID-19 in children, except in patients with recent allogeneic hematopoietic stem cell transplantation or comorbidities

    Pediatric Blood and Cancer, Vol. 71, Núm. 8

  2. FMR1 allelic complexity in premutation carriers provides no evidence for a correlation with age at amenorrhea

    Reproductive Biology and Endocrinology, Vol. 22, Núm. 1

2023

  1. Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas

    Translational Pediatrics, Vol. 12, Núm. 9, pp. 1715-1724

  2. Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing

    Scientific Reports, Vol. 13, Núm. 1

2022

  1. Identification and Functional Analysis of a Novel CTNNB1 Mutation in Pediatric Medulloblastoma

    Cancers, Vol. 14, Núm. 2

  2. RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome

    Frontiers in Pediatrics, Vol. 10

  3. Safety and Acceptance of COVID-19 Vaccination After Multisystem Inflammatory Syndrome in Children (MIS-C) in Spain

    Journal of the Pediatric Infectious Diseases Society, Vol. 11, Núm. 10, pp. 471-473

  4. Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer

    Cancers, Vol. 14, Núm. 23

2020

  1. Cribado selectivo de la hipofosfatasia en la población pediátrica del País Vasco

    Boletín de la Sociedad Vasco-Navarra de pediatría = Euskal Herriko Pediatria Elkartearen aldizkaria, Núm. 121, pp. 14-17

  2. Effect of AGG Interruptions on FMR1 Maternal Transmissions

    Frontiers in Molecular Biosciences, Vol. 7

  3. Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

    Frontiers in Neurology, Vol. 11

  4. Non-alcoholic fatty liver in hereditary fructose intolerance

    Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459

  5. Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability

    Genes, Vol. 11, Núm. 1

2019

  1. Acidurias orgánicas y defectos del ciclo de la urea

    Manual de pediatría (Ergon), pp. 675-680

  2. Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria

    European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911

  3. 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

  4. Quantification of urinary derivatives of Phenylbutyric and Benzoic acids by LC-MS/MS as treatment compliance biomarkers in Urea Cycle disorders

    Journal of pharmaceutical and biomedical analysis, Vol. 176, pp. 112798

  5. Reply-Letter to the Editor-Is liver steatosis diagnostic of non-alcoholic fatty liver disease in patients with hereditary fructose intolerance?

    Clinical Nutrition

2018

  1. Clinical implication of FMR1 intermediate alleles in a Spanish population

    Clinical Genetics, Vol. 94, Núm. 1, pp. 153-158

  2. Functional analyses of a novel splice variant in the CHD7 gene, found by next generation sequencing, confirm its pathogenicity in a Spanish patient and diagnose him with CHARGE syndrome

    Frontiers in Genetics, Vol. 9, Núm. JAN