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List of works by Pauline Arnaud

A Case of Trisomy 13 Mosaicism Presenting with a Severe Aortic Root Dilatation and Marfanoid Habitus due to an Unpredictable Cytogenetic Mechanism

scientific article published on 18 March 2020

Actionable Genes, Core Databases, and Locus-Specific Databases.

scientific article

Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1: An Analysis of the DM1-Heart Registry

scientific article published on June 2017

Association of modifiers and other genetic factors explain Marfan syndrome clinical variability

scientific article published on 07 August 2018

Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection

article

Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature

scientific article published on 10 March 2020

Development and Validation of a New Scoring System to Predict Survival in Patients With Myotonic Dystrophy Type 1.

scientific article published on 5 February 2018

Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)

scientific article published on 11 February 2019

Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.

scientific article published on 31 August 2016

LOX Mutations Predispose to Thoracic Aortic Aneurysms and Dissections.

scientific article published on 12 January 2016

MYLK pathogenic variants aortic disease presentation, pregnancy risk, and characterization of pathogenic missense variants

scientific article published on 20 June 2018

Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

article

Molecular Genetics of the Fibrillinopathies

article

Neonatal Marfan Syndrome: Report of a Case with an Inherited Splicing Mutation outside the Neonatal Domain

scientific article published on 2 February 2016

Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient

scientific article published on 02 January 2020

Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability

scientific article published on 20 May 2020

Reference Expression Profile of Three Transcript Isoforms and Their Association with Clinical Variability in Marfan Syndrome

article

SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

scientific article published on 19 January 2019

Systems pharmacology-based integration of human and mouse data for drug repurposing to treat thoracic aneurysms

scientific article published on 06 June 2019

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases

scientific article published on 20 September 2016

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