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Medium Sized Arteries (MSA-WG)

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Research

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Research

Year 1: Collaborative Publications

Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome. Byers PH, Belmont J, Black J, De Backer J, Frank M, Jeunemaitre X, Johnson D, Pepin M, Robert L, Sanders L, Wheeldon N.Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):40-47. doi: 10.1002/ajmg.c.31553. Review. PMID: 28306228

The 2017 international classification of the Ehlers-Danlos syndromes. Malfait F, Francomano C, Byers P, Belmont J, Berglund B, Black J, Bloom L, Bowen JM, Brady AF, Burrows NP, Castori M, Cohen H, Colombi M, Demirdas S, De Backer J, De Paepe A, Fournel-Gigleux S, Frank M, Ghali N, Giunta C, Grahame R, Hakim A, Jeunemaitre X, Johnson D, Juul-Kristensen B, Kapferer-Seebacher I, Kazkaz H, Kosho T, Lavallee ME, Levy H, Mendoza-Londono R, Pepin M, Pope FM, Reinstein E, Robert L, Rohrbach M, Sanders L, Sobey GJ, Van Damme T, Vandersteen A, van Mourik C, Voermans N, Wheeldon N, Zschocke J, Tinkle B.Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. doi: 10.1002/ajmg.c.31552.PMID: 28306229

Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Demirdas S, Dulfer E, Robert L, Kempers M, van Beek D, Micha D, van Engelen BG, Hamel B, Schalkwijk J, Loeys B, Maugeri A, Voermans NC.Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4.PMID: 27582382

Year 2 : Collaborative Publications

Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome. Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, Auribault K, Adham S, Frank M, Albuisson J, Jeunemaitre X. Genet Med. 2018 Nov 26. doi: 10.1038/s41436-018-0356-2. [Epub ahead of print] PMID: 30474650

Year 3-5 : Collaborative Publications

Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study. Frank M, Adham S, Seigle S, Legrand A, Mirault T, Henneton P, Albuisson J, Denarié N, Mazzella JM, Mousseaux E, Messas E, Boutouyrie P, Jeunemaitre X. J Am Coll Cardiol. 2019 Apr 23;73(15):1948-1957. doi: 10.1016/j.jacc.2019.01.058. PMID: 30999998.

*Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN). van de Laar IMBH, Baas AF, De Backer J, Blankenstein JD, Dulfer E, Helderman-van den Enden ATJM, Houweling AC, Kempers MJ, Loeys B, Malfait F, Robert L, Tanteles G, Frank M. Eur J Med Genet. 2022 Sep;65(9):104557. doi: 10.1016/j.ejmg.2022.104557. Epub 2022 Jun 30. PMID: 35779834.

*Phenotype of COL3A1/COL5A2 deletion patients. Kempers MJ, Wessels M, Van Berendoncks A, van de Laar IM, de Leeuw N, Loeys B. Eur J Med Genet. 2022 Aug 11;65(10):104593. doi: 10.1016/j.ejmg.2022.104593. Epub ahead of print. PMID: 35964930.

* = VASCERN acknowledged