Publicacions (95) Publicacions de María Isidoro García

2024

  1. Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia

    Genetics in Medicine, Vol. 26, Núm. 7

  2. Clinical and Genetic Characterization of a Cohort of Small-for-Gestational-Age Patients: Cost-Effectiveness of Whole-Exome Sequencing and Effectiveness of Treatment with GH

    Journal of Clinical Medicine, Vol. 13, Núm. 14

  3. Non-Mammalian Models for Understanding Neurological Defects in RASopathies

    Biomedicines, Vol. 12, Núm. 4

  4. PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients

    Child's Nervous System, Vol. 40, Núm. 6, pp. 1689-1697

2023

  1. Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patients

    Journal of Medical Genetics, Vol. 60, Núm. 7, pp. 644-654

  2. Interleukin 5 Receptor Subunit Alpha Expression as a Potential Biomarker in Patients with Nasal Polyposis

    Biomedicines, Vol. 11, Núm. 7

  3. Intermediate Molecular Phenotypes to Identify Genetic Markers of Anthracycline-Induced Cardiotoxicity Risk

    Cells, Vol. 12, Núm. 15

  4. RNY3 modulates cell proliferation and IL13 mRNA levels in a T lymphocyte model: a possible new epigenetic mechanism of IL-13 regulation

    Journal of Physiology and Biochemistry, Vol. 79, Núm. 1, pp. 59-69

  5. Transcriptomics reveals new regulatory mechanisms involved in benralizumab response

    Allergy: European Journal of Allergy and Clinical Immunology

2022

  1. Case Report: Pharmacogenetics Applied to Precision Psychiatry Could Explain the Outcome of a Patient With a New CYP2D6 Genotype

    Frontiers in Psychiatry, Vol. 12

  2. Effects of Therapeutic Antibodies on Gene and Protein Signatures in Asthma Patients: A Comparative Systematic Review

    Biomedicines, Vol. 10, Núm. 2

  3. Identification of Germinal Neurofibromin Hotspots

    Biomedicines, Vol. 10, Núm. 8

  4. Polymorphisms in Human IL4, IL10, and TNF Genes Are Associated with an Increased Risk of Developing NSAID-Exacerbated Respiratory Disease

    Genes, Vol. 13, Núm. 4

  5. Ten Years of Experience Support Pharmacogenetic Testing to Guide Individualized Drug Therapy

    Pharmaceutics, Vol. 14, Núm. 1

2021

  1. A rare HCN4 variant with combined sinus bradycardia, left atrial dilatation, and hypertrabeculation/left ventricular noncompaction phenotype

    Revista Espanola de Cardiologia, Vol. 74, Núm. 9, pp. 781-789

  2. Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

    European Heart Journal, Vol. 42, Núm. 32, pp. 3063-3073

  3. Economic impact of the application of a precision medicine model (5SPM) on psychotic patients

    Pharmacogenomics and Personalized Medicine, Vol. 14, pp. 1015-1025

  4. Genetics and Epigenetics of Nasal Polyposis: A Systematic Review

    Journal of investigational allergology & clinical immunology, Vol. 31, Núm. 3, pp. 196-211

  5. IL-5 Receptor Subunit Alpha Expression As A Possible Biomarker In Asthma

    Journal of Allergy and Clinical Immunology, Vol. 147, Núm. 2, pp. AB245

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

    Frontiers in Medicine, Vol. 8