OLATZ
VILLATE BEJARANO
Publications (34) OLATZ VILLATE BEJARANO publications
2024
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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
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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
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Analysis of germline variants in pediatric patients diagnosed with desmoid tumors and nuchal-type fibromas
Translational Pediatrics, Vol. 12, Núm. 9, pp. 1715-1724
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Identification of germline cancer predisposition variants in pediatric sarcoma patients from somatic tumor testing
Scientific Reports, Vol. 13, Núm. 1
2022
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Identification and Functional Analysis of a Novel CTNNB1 Mutation in Pediatric Medulloblastoma
Cancers, Vol. 14, Núm. 2
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RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome
Frontiers in Pediatrics, Vol. 10
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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
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Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer
Cancers, Vol. 14, Núm. 23
2020
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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
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Effect of AGG Interruptions on FMR1 Maternal Transmissions
Frontiers in Molecular Biosciences, Vol. 7
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Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis
Frontiers in Neurology, Vol. 11
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Non-alcoholic fatty liver in hereditary fructose intolerance
Clinical Nutrition, Vol. 39, Núm. 2, pp. 455-459
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Targeted next-generation sequencing in patients with suggestive X-linked intellectual disability
Genes, Vol. 11, Núm. 1
2019
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Acidurias orgánicas y defectos del ciclo de la urea
Manual de pediatría (Ergon), pp. 675-680
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Asymmetric dimethylarginine as a potential biomarker for management and follow-up of phenylketonuria
European Journal of Pediatrics, Vol. 178, Núm. 6, pp. 903-911
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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
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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
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Reply-Letter to the Editor-Is liver steatosis diagnostic of non-alcoholic fatty liver disease in patients with hereditary fructose intolerance?
Clinical Nutrition
2018
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Clinical implication of FMR1 intermediate alleles in a Spanish population
Clinical Genetics, Vol. 94, Núm. 1, pp. 153-158
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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