Search Results - "de la Hoz, Belén"
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Five patients with disorders of calcium metabolism presented with GCM2 gene variants
Published in Scientific reports (03-02-2021)“…The GCM2 gene encodes a transcription factor predominantly expressed in parathyroid cells that is known to be critical for development, proliferation and…”
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A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism
Published in Clinical genetics (01-02-2019)Get full text
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Allergic contact dermatitis from nickel and coronary aneurysm
Published in Contact dermatitis (01-06-2023)Get full text
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Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3
Published in Scientific reports (03-08-2023)“…Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory…”
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5
Prevalence of contact dermatitis to glucose sensors in pediatric population and the main allergens involved
Published in Contact dermatitis (01-07-2020)Get full text
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6
IgE and IgG4 Epitope Mapping of Food Allergens with a Peptide Microarray Immunoassay
Published in Methods in molecular biology (Clifton, N.J.) (2016)“…Peptide microarrays are a powerful tool to identify linear epitopes of food allergens in a high-throughput manner. The main advantages of the microarray-based…”
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Mapping of the IgE and IgG4 sequential epitopes of milk allergens with a peptide microarray–based immunoassay
Published in Journal of allergy and clinical immunology (01-09-2008)“…Background Peptide microarray analysis is a novel method that can provide useful information on the nature of specific allergies. Objective We sought to…”
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Value of the Lymphocyte Transformation Test for the Diagnosis of Drug-Induced Hypersensitivity Reactions in Hospitalized Patients with Severe COVID-19
Published in International journal of molecular sciences (01-07-2023)“…In the first wave of COVID-19, up to 20% of patients had skin lesions with variable characteristics. There is no clear evidence of the involvement of the…”
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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)
Published in Frontiers in genetics (31-10-2019)“…X-linked intellectual disability (XLID) is known to explain up to 10% of the intellectual disability in males. A large number of families in which intellectual…”
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Safety and effectiveness of immunotherapy in patients with indolent systemic mastocytosis presenting with Hymenoptera venom anaphylaxis
Published in Journal of allergy and clinical immunology (01-02-2008)“…Background Anaphylaxis after Hymenoptera sting has been described in patients with mastocytosis. Venom immunotherapy (VIT) is a safe and effective way to treat…”
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Allergic rhinitis and its impact on work productivity in primary care practice and a comparison with other common diseases: the Cross-sectional study to evAluate work Productivity in allergic Rhinitis compared with other common dIseases (CAPRI) study
Published in American journal of rhinology & allergy (01-09-2012)“…Allergic rhinitis (AR) is a highly prevalent allergic disease and also counts among the 10 most frequent reasons for medical consultation. Its impact on…”
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Changes In IgE and IgG4 Epitopes After Milk Oral Immunotherapy (OIT)
Published in Journal of allergy and clinical immunology (01-02-2014)Get full text
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Safe Handling of Antineoplastic Drugs During Allergy Diagnostic Workup and Desensitization: A Single Experience of the Allergy Department in a Tertiary Hospital
Published in Frontiers in allergy (18-02-2022)“…The increased use of antineoplastic drugs has been associated with a rising number of hypersensitivity reactions to these drugs, which has led to a growth in…”
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Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis
Published in Frontiers in neurology (14-02-2020)“…Hereditary spastic paraplegias (HSPs) are a heterogeneous group of genetic disorders with spastic paraparesis as the main clinical feature. Complex forms may…”
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Natural history of systemic reactions and risk factors in children and adults with Hymenoptera venom allergy
Published in Allergo journal international (01-03-2020)“…Purpose Stings by Hymenoptera usually cause just local reactions. However, in some cases, they can induce systemic symptoms and even fatal reactions. The…”
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Clinical utility of microarray B‐cell epitope mapping in food allergies: A systematic review
Published in Pediatric allergy and immunology (01-02-2020)“…Background Peptide microarray technology has been proposed as a useful tool for diagnosing food allergy. However, there is considerable heterogeneity in the…”
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Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability
Published in Genes (02-01-2020)“…X-linked intellectual disability (XLID) is known to contribute up to 10% of intellectual disability (ID) in males and could explain the increased ratio of…”
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Specific IgE and Basophil Activation Test by Microarray: A Promising Tool for Diagnosis of Platinum Compound Hypersensitivity Reactions
Published in International journal of molecular sciences (01-04-2024)“…Drug hypersensitivity reactions (DHRs) to platinum-based compounds (PCs) are on the rise, and their personalized and safe management is essential to enable…”
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Novel variant in the CNNM2 gene associated with dominant hypomagnesemia
Published in PloS one (30-09-2020)“…The maintenance of magnesium (Mg2+) homeostasis is essential for human life. The Cystathionine-β-synthase (CBS)-pair domain divalent metal cation transport…”
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Mapping of the IgE and IgG4 sequential epitopes of ovomucoid with a peptide microarray immunoassay
Published in International archives of allergy and immunology (01-01-2013)“…Ovomucoid (Gal d 1) has been demonstrated to be the most important allergen in IgE-mediated egg allergy. Peptide microarray analysis is a novel method that can…”
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