Publications (38) Publications de MARÍA JESÚS GARCÍA BARCINA

2023

  1. Genotype-first approach to identify associations between CDH1 germline variants and cancer phenotypes: a multicentre study by the European Reference Network on Genetic Tumour Risk Syndromes

    The Lancet. Oncology, Vol. 24, Núm. 1, pp. 91-106

2022

  1. Non-endocrine hyperaldosteronism. When hormones are supporting players

    Endocrinologia, Diabetes y Nutricion, Vol. 69, Núm. 9, pp. 763-766

2021

  1. Author Correction: Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications (Scientific Reports, (2021), 11, 1, (1526), 10.1038/s41598-021-81093-y)

    Scientific Reports

  2. Author Correction: The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome (Scientific Reports, (2017), 7, 1, (12288), 10.1038/s41598-017-11620-3)

    Scientific Reports

  3. Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications

    Scientific Reports, Vol. 11, Núm. 1

2020

  1. Generalized arterial calcification in childhood: A case report

    Revista Espanola de Patologia, Vol. 53, Núm. 3, pp. 193-196

2019

  1. Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism

    Movement Disorders, Vol. 34, Núm. 10, pp. 1547-1561

  2. Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”

    Movement Disorders

  3. X chromosome inactivation does not necessarily determine the severity of the phenotype in Rett syndrome patients

    Scientific Reports, Vol. 9, Núm. 1

2018

  1. Does arterial hypertension influence the onset of Huntington’s disease?

    PLoS ONE, Vol. 13, Núm. 5

  2. What to consider when pseudohypoparathyroidism is ruled out: IPPSD and differential diagnosis

    BMC Medical Genetics, Vol. 19, Núm. 1

2017

  1. Espectro mutacional de la distrofia muscular de Duchenne en España: estudio de 284 casos

    Neurologia, Vol. 32, Núm. 6, pp. 377-385

  2. Optimized short digestion protocol for free fetal DNA detection using methylation-dependent markers

    LaboratoriumsMedizin, Vol. 41, Núm. 4, pp. 195-203

  3. RNAseq based transcriptomics study of SMCs from carotid atherosclerotic plaque: BMP2 and IDs proteins are crucial regulators of plaque stability

    Scientific Reports, Vol. 7, Núm. 1

  4. The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

    Scientific Reports, Vol. 7, Núm. 1

2016

  1. Mutations in TrkA causing congenital insensitivity to pain with anhidrosis (CIPA) induce misfolding, aggregation, and mutation-dependent neurodegeneration by dysfunction of the autophagic flux

    Journal of Biological Chemistry, Vol. 291, Núm. 41, pp. 21363-21374

2015

  1. Exploring genetic factors involved in huntington disease age of onset: E2F2 as a new potential modifier gene

    PLoS ONE, Vol. 10, Núm. 7

  2. Non invasive prenatal diagnotics system based on a modularly assembled labonachip format

    MicroTAS 2015 - 19th International Conference on Miniaturized Systems for Chemistry and Life Sciences

  3. Sitosterolemia in a 2 year-old child with xanthomas and hematological anomalies

    Anales de Pediatria

2014

  1. Impacto psicosocial del diagnóstico y consejo genético en enfermedades neuromusculares

    Enfermedades neuromusculares: bases para la intervención (Servicio de Publicaciones = Argitalpen Zerbitzua), pp. 167-176