Pauline Arnaud
9PUBLICATIONS
15CO-AUTHORS
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Publications (9)
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|Jun 25, 2025
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS.Yordi-Michaël Bouhatous, Pauline Arnaud, Guillaume Jondeau
|Apr 14, 2025
Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in the MYH11 Gene with Several In-Frame Abnormal Transcripts.Pauline Arnaud, Margaux Cadenet, Zakaria Mougin
|Mar 08, 2024
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.Pauline Arnaud, Zakaria Mougin, Genevieve Baujat
|May 24, 2020
Quantifying the Genetic Basis of Marfan Syndrome Clinical Variability.Thomas Grange, Mélodie Aubart, Maud Langeois
|Mar 11, 2020
Clinical and genetic data of 22 new patients with SMAD3 pathogenic variants and review of the literature.Bertrand Chesneau, Thomas Edouard, Yves Dulac
|Jan 04, 2020
Phenotypic spectrum of TGFB3 disease-causing variants in a Dutch-French cohort and first report of a homozygous patient.Luisa Marsili, Eline Overwater, Nadine Hanna
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Frequent Collaborators
2 joint publications
Catherine Boileau
1 joint publications
Emmanuelle Génin
1 joint publications
Stephanie E Wallace
1 joint publications
Luisa Marsili
1 joint publications
Clemence Vanlerberghe
1 joint publications
Bertrand Chesneau
1 joint publications
Louise Benarroch
1 joint publications
Guillaume Jondeau
1 joint publications
Zakaria Mougin
1 joint publications
Carine Le Goff
