![Foto de María](/img/uploaded/6b8f481684f6922508105df850143490.jpg)
María
Isidoro García
Profesora Asociada CC. Salud
Publicacions (95) Publicacions de María Isidoro García
2024
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Biallelic loss-of-function variants of ZFTRAF1 cause neurodevelopmental disorder with microcephaly and hypotonia
Genetics in Medicine, Vol. 26, Núm. 7
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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
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Non-Mammalian Models for Understanding Neurological Defects in RASopathies
Biomedicines, Vol. 12, Núm. 4
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PTEN hamartoma tumor syndrome: Clinical and genetic characterization in pediatric patients
Child's Nervous System, Vol. 40, Núm. 6, pp. 1689-1697
2023
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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
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Interleukin 5 Receptor Subunit Alpha Expression as a Potential Biomarker in Patients with Nasal Polyposis
Biomedicines, Vol. 11, Núm. 7
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Intermediate Molecular Phenotypes to Identify Genetic Markers of Anthracycline-Induced Cardiotoxicity Risk
Cells, Vol. 12, Núm. 15
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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
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Transcriptomics reveals new regulatory mechanisms involved in benralizumab response
Allergy: European Journal of Allergy and Clinical Immunology
2022
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Case Report: Pharmacogenetics Applied to Precision Psychiatry Could Explain the Outcome of a Patient With a New CYP2D6 Genotype
Frontiers in Psychiatry, Vol. 12
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Effects of Therapeutic Antibodies on Gene and Protein Signatures in Asthma Patients: A Comparative Systematic Review
Biomedicines, Vol. 10, Núm. 2
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Identification of Germinal Neurofibromin Hotspots
Biomedicines, Vol. 10, Núm. 8
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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
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Ten Years of Experience Support Pharmacogenetic Testing to Guide Individualized Drug Therapy
Pharmaceutics, Vol. 14, Núm. 1
2021
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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
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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
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Economic impact of the application of a precision medicine model (5SPM) on psychotic patients
Pharmacogenomics and Personalized Medicine, Vol. 14, pp. 1015-1025
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Genetics and Epigenetics of Nasal Polyposis: A Systematic Review
Journal of investigational allergology & clinical immunology, Vol. 31, Núm. 3, pp. 196-211
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IL-5 Receptor Subunit Alpha Expression As A Possible Biomarker In Asthma
Journal of Allergy and Clinical Immunology, Vol. 147, Núm. 2, pp. AB245
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Increased TPSAB1 Copy Number in a Family With Elevated Basal Serum Levels of Tryptase
Frontiers in Medicine, Vol. 8