Search Results - "de la Hoz, Belen"

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability by Ibarluzea, Nekane, Hoz, Ana Belén de la, Villate, Olatz, Llano, Isabel, Ocio, Intzane, Martí, Itxaso, Guitart, Miriam, Gabau, Elisabeth, Andrade, Fernando, Gener, Blanca, Tejada, María-Isabel

“…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 by Fernández-Lozano, Carlos, Rita, Claudia Geraldine, Barra-Castro, Alicia, de la Hoz Caballer, Belén, Roldán, Ernesto, Pueyo López, Cristina, Martinez-Botas, Javier, Berges-Gimeno, María Pilar

“…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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Murine double minute 2 regulates Hu antigen R stability in human liver and colon cancer through NEDDylation by Embade, Nieves, Fernández-Ramos, David, Varela-Rey, Marta, Beraza, Naiara, Sini, Marcella, de Juan, Virginia Gutiérrez, Woodhoo, Ashwin, Martínez-López, Nuria, Rodríguez-Iruretagoyena, Begoña, Bustamante, Francisco Javier, de la Hoz, Ana Belén, Carracedo, Arkaitz, Xirodimas, Dimitris P., Rodríguez, Manuel S., Lu, Shelly C., Mato, José M., Martínez-Chantar, María L.

“…Hu antigen R (HuR) is a central RNA‐binding protein regulating cell dedifferentiation, proliferation, and survival, which are well‐established hallmarks of…”
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Management of hypersensitivity reactions to chemotherapy and biologic agents: A survey of ARADyAL (Asthma, Adverse Drug Reactions and Allergy Network) Spanish allergy services by Jimenez‐Rodriguez, Teodorikez‐Wilfox, Berges‐Gimeno, María Pilar, Barranco, Ruth, Bartra, Joan, Diéguez, María del Carmen, Doña, Inmaculada, Fernández‐Rivas, Montserrat, Gandolfo‐Cano, Maria Del Mar, Gastaminza‐Lasarte, Gabriel, González‐Mancebo, Eloína, Hoz Caballer, Belén, Sánchez‐Morillas, Leticia, Torres, María José, Vega, Arantza, Muñoz‐Cano, Rosa

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Five patients with disorders of calcium metabolism presented with GCM2 gene variants by García-Castaño, Alejandro, Madariaga, Leire, Gómez-Conde, Sara, Cordo, Carmen Lourdes Rey, López-Iglesias, María, Garcia-Fernández, Yolanda, Martín, Alicia, González, Pedro, Goicolea, Ignacio, de Nanclares, Gustavo Pérez, De la Hoz, Ana Belén, Aguayo, Aníbal, de LaPiscina, Idoia Martínez, Martínez, Rosa, Saso, Laura, Urrutia, Inés, Velasco, Olaia, Castaño, Luis, Gaztambide, Sonia

“…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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Genetic profile of a large Spanish cohort with hypercalcemia by García-Castaño, Alejandro, Madariaga, Leire, Gómez-Conde, Sara, González, Pedro, Grau, Gema, Rica, Itxaso, de Nanclares, Gustavo Pérez, De la Hoz, Ana Belén, Aguayo, Aníbal, Martínez, Rosa, Urrutia, Inés, Gaztambide, Sonia, Castaño, Luis

“…The disorders in the metabolism of calcium can present with manifestations that strongly suggest their diagnosis; however, most of the time, the symptoms with…”
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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 by Tejada, María‐Isabel, Elcoroaristizabal, Xabier, Ibarluzea, Nekane, Botella, María‐Pilar, de la Hoz, Ana‐Belén, Ocio, Intzane

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Effect of AGG Interruptions on FMR1 Maternal Transmissions by Villate, Olatz, Ibarluzea, Nekane, Maortua, Hiart, de la Hoz, Ana Belén, Rodriguez-Revenga, Laia, Izquierdo-Álvarez, Silvia, Tejada, María Isabel

“…There are four classes of CGG repeat alleles in the FMR1 gene: normal alleles have up to 44 repeats; patients with Fragile X Syndrome have more than 200…”
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Allergic contact dermatitis from nickel and coronary aneurysm by Giraldo‐Tugores, Margarita, Sanmartín‐Fernández, Marcelo, Fernández‐Lozano, Carlos, Martínez‐Botas, Javier, De‐la‐Hoz‐Caballer, Belén, González‐de‐Olano, David

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Wheat-Triggered Food Protein-Induced Enterocolitis Syndrome in Celiac Children on Gluten-Free Diet: A New Clinical Association by Giraldo-Tugores, Margarita, Camarero, Cristina, Roy, Garbiñe, De Andrés, Ana, Espejo-Mambié, Moisés David, Terrados-Cepeda, Soledad, de la Hoz, Belén

“…The association between food protein-induced enterocolitis syndrome (FPIES) and wheat ingestion in children with celiac disease is unknown at this time. We…”
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Genotypic variability in patients with clinical diagnosis of Bartter syndrome type 3 by García-Castaño, Alejandro, Gómez-Conde, Sara, Gondra, Leire, Herrero, María, Aguirre, Mireia, de la Hoz, Ana-Belén, Castaño, Luis, Madariaga, Leire

“…Bartter syndrome (BS) is a salt-losing hereditary tubulopathy characterized by hypokalemic metabolic alkalosis with secondary hyperaldosteronism. Confirmatory…”
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Prevalence of contact dermatitis to glucose sensors in pediatric population and the main allergens involved by Vidal‐Albareda, Carmen, Yelmo‐Valverde, Rosa, Solórzano‐Zepeda, Cristiana, Rodríguez‐Muñoz, Noris, de‐la‐Hoz‐Caballer, Belén, González‐de‐Olano, David

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Anaphylaxislike cholinergic urticaria by Antolín-Amérigo, Darío, Vlaicu, Petruta Cristina, De La Hoz Caballer, Belén, Cano, Moisés Sánchez

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IgE and IgG4 Epitope Mapping of Food Allergens with a Peptide Microarray Immunoassay by Martínez-Botas, Javier, de la Hoz, Belén

“…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 by Cerecedo, Inmaculada, MD, Zamora, Javier, PhD, Shreffler, Wayne G., MD, PhD, Lin, Jing, PhD, Bardina, Ludmilla, MSc, Dieguez, Ma Carmen, MD, PhD, Wang, Julie, MD, Muriel, Alfonso, MSc, de la Hoz, Belén, MD, PhD, Sampson, Hugh A., MD

“…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 by Fernández-Lozano, Carlos, Solano Solares, Emilio, Elías-Sáenz, Isabel, Pérez-Allegue, Isabel, Fernández-Guarino, Monserrat, Fernández-Nieto, Diego, Díaz Montalvo, Laura, González-de-Olano, David, de Andrés, Ana, Martínez-Botas, Javier, de la Hoz Caballer, Belén

“…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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Quality of life in patients with food allergy by Antolín-Amérigo, Darío, Manso, Luis, Caminati, Marco, de la Hoz Caballer, Belén, Cerecedo, Inmaculada, Muriel, Alfonso, Rodríguez-Rodríguez, Mercedes, Barbarroja-Escudero, José, Sánchez-González, María José, Huertas-Barbudo, Beatriz, Alvarez-Mon, Melchor

“…Food allergy has increased in developed countries and can have a dramatic effect on quality of life, so as to provoke fatal reactions. We aimed to outline 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) by Tejada, María Isabel, Villate, Olatz, Ibarluzea, Nekane, de la Hoz, Ana Belén, Martínez-Bouzas, Cristina, Beristain, Elena, Martínez, Francisco, Friez, Michael J., Sobrino, Beatriz, Barros, Francisco

“…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 by de Olano, David González, MD, Álvarez-Twose, Iván, MD, Esteban-López, María I., MD, Sánchez-Muñoz, Laura, MD, PhD, de Durana, María D. Alonso Díaz, MD, Vega, Arantza, MD, PhD, García-Montero, Andres, MD, PhD, González-Mancebo, Eloina, MD, PhD, Belver, Teresa, MD, Herrero-Gil, María D., MD, Fernández-Rivas, Montserrat, MD, PhD, Orfao, Alberto, MD, PhD, de la Hoz, Belén, MD, PhD, Castells, Mariana C., MD, PhD, Escribano, Luis, MD, PhD

“…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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Food Induced Gastroenterocolitis Syndrome(FPIES): A Case Series of 51 Children by Villafana, Liseth, MD, Cepeda, Soledad Terrados, MD, Perez, Nuria, MD, De La Hoz, Belen, MD, PhD, Alvarez-Cuesta, Emilio, MD, PhD

“…Rationale FPIES is a non IgE mediated gastrointestinal food hypersensitivity whose clinical features are severe vomiting, diarrhea and dehydration within a few…”
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