Publications by authors named "Maria Antolin"

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Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.
Blanca Urban, Laura Batlle-Masó, Janire Perurena-Prieto, Marina Garcia-Prat, Alba Parra-Martínez

J Clin Immunol· November 2024

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Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor ().
Diego Yeste, Noelia Baz-Redón, María Antolín, Elena Garcia-Arumí, Eduard Mogas

Int J Mol Sci· September 2024

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Patients with Thyroid Dyshormonogenesis and Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.
Noelia Baz-Redón, María Antolín, María Clemente, Ariadna Campos, Eduard Mogas

Int J Mol Sci· August 2024

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Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the gene.
Mónica Fernández-Cancio, María Antolín, María Clemente, Ariadna Campos-Martorell, Eduard Mogas

Front Endocrinol (Lausanne)· July 2024

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Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.
Maria Antolin, Guillermo Tarrasó, María Ángeles Sánchez, Alberto Plaja, Desiree Martínez-Cruz

J Clin Med· July 2024

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OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers.
Laura Batlle-Masó, Maria Antolin, Joana Marques-Soares, Romina Dieli-Crimi, Roger Colobran

J Clin Immunol· April 2024

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Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.
María Clemente, Patricia Cobo, María Antolín, Ariadna Campos, Diego Yeste

J Clin Endocrinol Metab· October 2023

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An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.
Laura Blasco-Pérez, Leticia Iranzo-Nuez, Ricard López-Ortega, Desirée Martínez-Cruz, María Camprodon-Gómez

J Mol Diagn· September 2023

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Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.
Laura Batlle-Masó, Marina Garcia-Prat, Alba Parra-Martínez, Clara Franco-Jarava, Aina Aguiló-Cucurull

Front Immunol· April 2023

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Prospecting the Resilience of Several Spanish Ancient Varieties of Red Grape under Climate Change Scenarios.
María Carmen Antolín, Eduardo Salinas, Ana Fernández, Yolanda Gogorcena, Inmaculada Pascual

Plants (Basel)· October 2022

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Grape berry transpiration influences ripening and must composition in cv. Tempranillo (Vitis vinifera L.).
Inmaculada Pascual, María Carmen Antolín, Nieves Goicoechea, Juan José Irigoyen, Fermín Morales

Physiol Plant· July 2022

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A systematic study and literature review of parental somatic mosaicism of pathogenic variants in Marfan syndrome.
Paula Fernández-Álvarez, Marta Codina-Sola, Irene Valenzuela, Gisela Teixidó-Turá, Anna Cueto-González

J Med Genet· June 2022

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Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.
Moisés Labrador-Horrillo, Clara Franco-Jarava, Marina Garcia-Prat, Alba Parra-Martínez, María Antolín

Front Immunol· April 2022

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Anti-Inflammatory Effect of an -2-Substituted (1-3)-β-D-Glucan Produced by 2.6 in a Caco-2 PMA-THP-1 Co-Culture Model.
Sara Notararigo, Encarnación Varela, Anna Otal, María Antolín, Francisco Guarner

Int J Mol Sci· January 2022

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Assessment of Nutritional and Quality Properties of Leaves and Musts in Three Local Spanish Grapevine Varieties Undergoing Controlled Climate Change Scenarios.
Nieves Goicoechea, Leyre Jiménez, Eduardo Prieto, Yolanda Gogorcena, Inmaculada Pascual

Plants (Basel)· June 2021

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Implementation of a Gene Panel for Genetic Diagnosis of Primary Ciliary Dyskinesia.
Noelia Baz-Redón, Sandra Rovira-Amigo, Ida Paramonov, Silvia Castillo-Corullón, Maria Cols Roig

Arch Bronconeumol (Engl Ed)· March 2021

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Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.
Jacques G Rivière, Clara Franco-Jarava, Mónica Martínez-Gallo, Aina Aguiló-Cucurull, Laura Blasco-Pérez

Front Immunol· February 2021

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Evaluation of an 2-Substituted (1-3)-β-D-Glucan, Produced by 2.6, in Models of Crohn's Disease.
Sara Notararigo, Encarnación Varela, Anna Otal, Iván Cristobo, María Antolín

Front Microbiol· February 2021

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Phenotypic Variability of Patients With PAX8 Variants Presenting With Congenital Hypothyroidism and Eutopic Thyroid.
Núria Camats, Noelia Baz-Redón, Mónica Fernández-Cancio, María Clemente, Ariadna Campos-Martorell

J Clin Endocrinol Metab· January 2021

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Peripheral Corticotropin-Releasing Factor Triggers Jejunal Mast Cell Activation and Abdominal Pain in Patients With Diarrhea-Predominant Irritable Bowel Syndrome.
Mar Guilarte, María Vicario, Cristina Martínez, Inés de Torres, Beatriz Lobo

Am J Gastroenterol· December 2020

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The Exploitation of Local L. Biodiversity as a Valuable Tool to Cope with Climate Change Maintaining Berry Quality.
María Carmen Antolín, María Toledo, Inmaculada Pascual, Juan José Irigoyen, Nieves Goicoechea

Plants (Basel)· December 2020

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Aminoacids and Flavonoids Profiling in Tempranillo Berries Can Be Modulated by the Arbuscular Mycorrhizal Fungi.
Nazareth Torres, Ghislaine Hilbert, María Carmen Antolín, Nieves Goicoechea

Plants (Basel)· October 2019

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Role of Immunofluorescence and Molecular Diagnosis in the Characterization of Primary Ciliary Dyskinesia.
Noelia Baz-Redón, Sandra Rovira-Amigo, Núria Camats-Tarruella, Mónica Fernández-Cancio, Marta Garrido-Pontnou

Arch Bronconeumol (Engl Ed)· August 2019

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Volatile compounds other than CO emitted by different microorganisms promote distinct posttranscriptionally regulated responses in plants.
Pablo García-Gómez, Goizeder Almagro, Ángela María Sánchez-López, Abdellatif Bahaji, Kinia Ameztoy

Plant Cell Environ· May 2019

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Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations.
Romina Dieli-Crimi, Mónica Martínez-Gallo, Clara Franco-Jarava, Maria Antolin, Laura Blasco

Clin Immunol· October 2018

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