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Journal of Medical Genetics|September 2, 2016
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndromePauline Arnaud, Nadine Hanna, Mélodie Aubart, et al.
Archives of Cardiovascular Diseases|November 19, 2019
Incidence of cardiovascular events and risk markers in a prospective study of children diagnosed with Marfan syndromeSebastien Hascoet, Thomas Edouard, Julie Plaisancie, et al.
Radiology|April 2, 2020
Combining Volumetric and Wall Shear Stress Analysis from CT to Assess Risk of Abdominal Aortic Aneurysm ProgressionOlivier Meyrignac, Laurence Bal, Charline Zadro, et al.
European Journal of Vascular and Endovascular Surgery : the Official Journal of the European Society for Vascular Surgery|April 24, 2021
Prevalence of Thoracic Aortic Aneurysms in Patients with Degenerative Abdominal Aortic Aneurysms: Results from the Prospective ACTA StudyMarine Gaudry, Pierre-Antoine Barral, Arnaud Blanchard, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 12, 2019
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD)Pauline Arnaud, Nadine Hanna, Louise Benarroch, et al.
Orphanet Journal of Rare Diseases|December 5, 2021
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndromeClarisse Billon, Salma Adham, Natalia Hernandez Poblete, et al.
Clinical Genetics|April 23, 2021
Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotypeSalima El Chehadeh, Anne Legrand, Corinne Stoetzel, et al.
Circulation|February 5, 2025
Efficacy of Irbesartan in Celiprolol-Treated Patients With Vascular Ehlers-Danlos SyndromeXavier Jeunemaitre, Elie Mousseaux, Michael Frank, et al.
Journal of Medical Genetics|July 24, 2025
'Knowing and Treating Kosaki/Penttinen syndrome' international collaborative consortium: recommendations for follow-up, natural history and a real-life observational study about safety and efficacy profile of tyrosine kinase inhibitorsYordi-Michaël Bouhatous, Cecilie Bredrup, Agnes Maurer, et al.
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