Publicaciones (15) Publicaciones de Laura Hernández Hernández

2021

  1. Increased TPSAB1 Copy Number in a Family With Elevated Basal Serum Levels of Tryptase

    Frontiers in Medicine, Vol. 8

2018

  1. Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease

    Neurology, Vol. 91, Núm. 22, pp. e2078-e2088

2017

  1. DNM1 encephalopathy

    Neurology, Vol. 89, Núm. 4, pp. 385-394

  2. Ring Chromosome 17 Not Involving the Miller-Dieker Region: A Case with Drug-Resistant Epilepsy

    Molecular Syndromology, Vol. 9, Núm. 1, pp. 38-44

2016

  1. Analysis of FOXP3 gene in children with allergy and autoimmune diseases

    Allergologia et Immunopathologia, Vol. 44, Núm. 1, pp. 32-40

  2. Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy

    Journal of Medical Genetics, Vol. 53, Núm. 8, pp. 511-522

  3. Retinoic acid modulates PTGDR promoter activity

    Journal of Investigational Allergology and Clinical Immunology, Vol. 26, Núm. 4, pp. 249-255

2015

  1. De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

    Nature Genetics, Vol. 47, Núm. 4, pp. 393-399

  2. Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

    EBioMedicine, Vol. 2, Núm. 9, pp. 1063-1070

  3. Genome-wide association studies (GWAS) and their importance in asthma

    Allergologia et Immunopathologia, Vol. 43, Núm. 6, pp. 601-608

2014

  1. Genome-wide expression profiling of B lymphocytes reveals IL4R increase in allergic asthma

    Journal of Allergy and Clinical Immunology, Vol. 134, Núm. 4, pp. 972-975

  2. Implications of cytokine genes in allergic asthma

    Allergologia et Immunopathologia, Vol. 42, Núm. 6, pp. 603-608

  3. The prostaglandin D2 receptor (PTGDR) gene in asthma and allergic diseases

    Allergologia et Immunopathologia, Vol. 42, Núm. 1, pp. 64-68

2012

  1. Genetic association study in nasal polyposis

    Journal of Investigational Allergology and Clinical Immunology, Vol. 22, Núm. 5, pp. 331-340

  2. Tryptase: Genetic and functional considerations

    Allergologia et Immunopathologia, Vol. 40, Núm. 6, pp. 385-389