Elisabet Ars

Head of Molecular Biology Laboratory

FUNDACIO PUIGVERT

Spain

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About

Elisabet Ars is the Head of the Molecular Biology Laboratory at Fundació Puigvert, IIB Sant Pau, Spain. Her research focuses on genetic aspects of kidney diseases, including autosomal dominant polycystic kidney disease and Alport syndrome. She has contributed to significant publications advancing genetic testing and understanding the clinical implications of various genetic variants.

Articles (11)

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2025

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2024

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2024

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2024

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2023

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2023

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2022

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2022

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2022

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2022

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2022

Collaborators (15)

Roser Torra

Profesor titular

University of Barcelona

SPAIN

Elisabet Ars

Research Interests

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About

Articles (11)

Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140.

Advancing Genetic Testing in Kidney Diseases: Report From a National Kidney Foundation Working Group

A Mild Presentation of X-Linked Hypophosphatemia Caused by a Non-Canonical Splice Site Variant in the <i>PHEX</i> Gene

Increased prevalence of kidney cysts in individuals carrying heterozygous <i>COL4A3</i> or <i>COL4A4</i> pathogenic variants

Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.

Correlation of X chromosome inactivation with clinical presentation of Fabry disease in a case report

The Benefits of Early versus Late Therapeutic Intervention in Fabry Disease

Consensus document on autosomal dominant polycystic kindey disease from the Spanish Working Group on Inherited Kindey Diseases. Review 2020.

Genetics in chronic kidney disease: conclusions from a Kidney Disease: Improving Global Outcomes (KDIGO) Controversies Conference.

Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure.

Digenic Alport Syndrome

Collaborators (15)

Roser Torra

Ruth Loos

Dorota Kamińska

Joris A. Veltman

Albertien M. van Eerde

Emilie CORNEC-LE GALL

ciro esposito

Laureline Berthelot

Jan Halbritter

Hila Milo Rasouly

Zbigniew Heleniak

Bruno Vogt

Beata S. Lipska-Ziętkiewicz

Oliver Gross

Maria Szczepanska

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