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Periodontal (formerly type VIII) Ehlers-Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.
El Chehadeh S, Legrand A, Stoetzel C, Geoffroy V, Billon C, Adham S, Jeunemaître X, Jaussaud R, Muller J, Schaefer E, Benistan K, Gaertner S, Bloch-Zupan A, Courval A, Manière MC, Petit C, Bursztejn AC, Bal L, Reyre A, Chammas A, Busa T, Dollfus H, Lipsker D. El Chehadeh S, et al. Among authors: bal l. Clin Genet. 2021 Aug;100(2):206-212. doi: 10.1111/cge.13972. Epub 2021 Apr 29. Clin Genet. 2021. PMID: 33890303
Homozygous and compound heterozygous mutations in the FBN1 gene: unexpected findings in molecular diagnosis of Marfan syndrome.
Arnaud P, Hanna N, Aubart M, Leheup B, Dupuis-Girod S, Naudion S, Lacombe D, Milleron O, Odent S, Faivre L, Bal L, Edouard T, Collod-Beroud G, Langeois M, Spentchian M, Gouya L, Jondeau G, Boileau C. Arnaud P, et al. Among authors: bal l. J Med Genet. 2017 Feb;54(2):100-103. doi: 10.1136/jmedgenet-2016-103996. Epub 2016 Aug 31. J Med Genet. 2017. PMID: 27582083 Free article.
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD).
Arnaud P, Hanna N, Benarroch L, Aubart M, Bal L, Bouvagnet P, Busa T, Dulac Y, Dupuis-Girod S, Edouard T, Faivre L, Gouya L, Lacombe D, Langeois M, Leheup B, Milleron O, Naudion S, Odent S, Tchitchinadze M, Ropers J, Jondeau G, Boileau C. Arnaud P, et al. Among authors: bal l. Genet Med. 2019 Sep;21(9):2015-2024. doi: 10.1038/s41436-019-0444-y. Epub 2019 Feb 11. Genet Med. 2019. PMID: 30739908 Free article.
Vascular manifestations and kyphoscoliosis due to a novel mutation of PLOD1 gene.
Zieminski P, Risse J, Legrand A, Dufrost V, Bal L, Settembre N, Malikov S, Jeunemaitre X, Wahl D, Zuily S. Zieminski P, et al. Among authors: bal l. Acta Cardiol. 2021 Jul;76(5):557-558. doi: 10.1080/00015385.2020.1802904. Epub 2020 Aug 4. Acta Cardiol. 2021. PMID: 32746767 No abstract available.
Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.
Billon C, Adham S, Hernandez Poblete N, Legrand A, Frank M, Chiche L, Zuily S, Benistan K, Savale L, Zaafrane-Khachnaoui K, Brehin AC, Bal L, Busa T, Fradin M, Quelin C, Chesneau B, Wahl D, Fergelot P, Goizet C, Mirault T, Jeunemaitre X, Albuisson J; Bordeaux-cohort collaborators. Billon C, et al. Among authors: bal l. Orphanet J Rare Dis. 2021 Dec 4;16(1):504. doi: 10.1186/s13023-021-02128-1. Orphanet J Rare Dis. 2021. PMID: 34863227 Free PMC article.
Prevalence of Thoracic Aortic Aneurysms in Patients with Degenerative Abdominal Aortic Aneurysms: Results from the Prospective ACTA Study.
Gaudry M, Barral PA, Blanchard A, Palazzolo S, Bolomey S, Omnes V, De Masi M, Carcopino-Tusoli M, Meyrignac O, Rousseau H, Jacquier A, Hassen-Khodja R, Bura-Rivière A, Bartoli JM, Gentile S, Piquet P, Bal L. Gaudry M, et al. Among authors: bal l. Eur J Vasc Endovasc Surg. 2021 Jun;61(6):930-937. doi: 10.1016/j.ejvs.2021.03.004. Epub 2021 Apr 20. Eur J Vasc Endovasc Surg. 2021. PMID: 33892987 Free article.
66 results