Maria Antolin

Barcelona, CT 08035, Spain

Last Updated: 09/26/2026

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Found 24 publications

Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).

Genetic and Functional Studies of Patients with Thyroid Dyshormonogenesis and Defects in the TSH Receptor (TSHR).

Journal: International journal of molecular sciences

Published: August 31, 2024

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.

Patients with Thyroid Dyshormonogenesis and DUOX2 Variants: Molecular and Clinical Description and Genotype-Phenotype Correlation.

Journal: International journal of molecular sciences

Published: July 05, 2024

Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.

Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.

Journal: Journal of clinical medicine

Published: May 09, 2024

Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.

Heterozygous Predicted Loss-of-function Variants of TRAF3 in Patients with Common Variable Immunodeficiency.

Journal: Journal of clinical immunology

Published: April 03, 2024

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.

Clinical and molecular study of patients with thyroid dyshormogenesis and variants in the thyroglobulin gene.

Journal: Frontiers in endocrinology

Published: January 09, 2024

OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers.

OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers.

Journal: Journal of clinical immunology

Published: December 05, 2023

An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.

An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.

Journal: The Journal of molecular diagnostics : JMD

Published: February 08, 2023

Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.

Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.

Journal: The Journal of clinical endocrinology and metabolism

Published: December 16, 2022

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications.

Journal: Frontiers in immunology

Published: August 09, 2022

Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.

Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency.

Journal: Frontiers in immunology

Published: February 22, 2022

Anti-Inflammatory Effect of an O-2-Substituted (1-3)-β-D-Glucan Produced by Pediococcus parvulus 2.6 in a Caco-2 PMA-THP-1 Co-Culture Model.

Anti-Inflammatory Effect of an O-2-Substituted (1-3)-β-D-Glucan Produced by Pediococcus parvulus 2.6 in a Caco-2 PMA-THP-1 Co-Culture Model.

Journal: International journal of molecular sciences

Published: December 16, 2021

A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.

A systematic study and literature review of parental somatic mosaicism of FBN1 pathogenic variants in Marfan syndrome.

Journal: Journal of medical genetics

Published: November 20, 2020

Showing 1-12 of 24

Last Updated: 09/26/2026