Publications by authors named "Anna Barque"

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Novel transferrin gene mutations in four new cases of congenital Atransferrinaemia: Functional and diagnostic pathogenicity despite negative bioinformatics.
Lídia Romero-Cortadellas, Xènia Ferrer-Cortès, Laura Calvo-López, Mireia Olivella, Anna Barqué

Br J Haematol· October 2024

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Analytical Validation of a Telomerase Reverse Transcriptase (TERT) Promoter Mutation Assay.
Priyanka C Iyer, Ramona Dadu, Anna Barque, Cleslei Zanelli, Xingyu Zheng

J Clin Endocrinol Metab· August 2024

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The matrix in focus: new directions in extracellular matrix research from the 2021 ASMB hybrid meeting.
Bryan A Nerger, Tia M Jones, Keron W J Rose, Anna Barqué, Justin S Weinbaum

Biol Open· January 2022

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Computational and experimental characterization of the novel ECM glycoprotein SNED1 and prediction of its interactome.
Sylvain D Vallet, Martin N Davis, Anna Barqué, Ali H Thahab, Sylvie Ricard-Blum

Biochem J· April 2021

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Knockout of the gene encoding the extracellular matrix protein SNED1 results in early neonatal lethality and craniofacial malformations.
Anna Barqué, Kyleen Jan, Emanuel De La Fuente, Christina L Nicholas, Richard O Hynes

Dev Dyn· February 2021

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Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
Marc Vila Cuenca, Giacomo Marchi, Anna Barqué, Clara Esteban-Jurado, Alessandro Marchetto

Int J Mol Sci· March 2020

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Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3.
Ricky Joshi, Maya Shvartsman, Erica Morán, Sergi Lois, Jessica Aranda

Mol Genet Genomic Med· May 2015

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