Pauline Arnaud

Paris, France

Last Updated: 09/26/2026

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Found 43 publications

Loss of function variants in ADAMTS6 : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS).

Loss of function variants in ADAMTS6 : Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS).

Journal: medRxiv : the preprint server for health sciences

Published: July 14, 2025

A large French family with TGFBR2 pathogenic variant: illustration of variability.

A large French family with TGFBR2 pathogenic variant: illustration of variability.

Journal: Orphanet journal of rare diseases

Published: April 04, 2025

Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome.

Differences in Arterial Events in Vascular Ehlers-Danlos, Loeys-Dietz, and Marfan Syndrome.

Journal: Journal of the American College of Cardiology

Published: February 15, 2025

Family history of aortic dissection in fibrillin-1 pathogenic variant.

Family history of aortic dissection in fibrillin-1 pathogenic variant.

Journal: European heart journal

Published: January 28, 2025

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.

Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.

Journal: Journal of medical genetics

Published: August 22, 2024

De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling.

De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling.

Journal: American journal of medical genetics. Part A

Published: June 20, 2024

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Journal: Genome medicine

Published: January 26, 2024

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.

Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.

Journal: Journal of medical genetics

Published: September 18, 2023

Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts.

Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts.

Journal: Human mutation

Published: April 11, 2023

Genotype-Mitral Valve Phenotype Correlations in Marfan Syndrome With FBN1 Pathogenic Variants.

Genotype-Mitral Valve Phenotype Correlations in Marfan Syndrome With FBN1 Pathogenic Variants.

Journal: JACC. Advances

Published: December 14, 2022

Genetic of thoracic aorta aneurysm

Genetic of thoracic aorta aneurysm

Journal: Annales de biologie clinique

Published: September 13, 2022

Inhibition of HIPK2 Alleviates Thoracic Aortic Disease in Mice With Progressively Severe Marfan Syndrome.

Inhibition of HIPK2 Alleviates Thoracic Aortic Disease in Mice With Progressively Severe Marfan Syndrome.

Journal: Arteriosclerosis, thrombosis, and vascular biology

Published: July 29, 2021

Showing 1-12 of 43

Last Updated: 09/26/2026