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Research Publications

Our publications cover a wide range of topics, including the latest research on diagnostic tools, innovative therapies, and management strategies for rare vascular diseases. This page provides a list of publications from the Medium Sized Arteries Working Group (MSA-WG) to help researchers and healthcare professionals stay up-to-date on the latest developments in the field.

Results (7)
Diagnosis, natural history, and management in vascular Ehlers-Danlos syndrome
March 21 2023

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

Phenotype of COL3A1/COL5A2 deletion patients
August 11 2022

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

Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN)
June 30 2022

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. Surveillance and monitoring in vascular Ehlers-Danlos syndrome in European Reference Network For Rare Vascular Diseases (VASCERN). Eur J Med Genet. 2022 Sep;65(9):104557. doi: 10.1016/j.ejmg.2022.104557. Epub 2022 Jun 30. PMID: 35779834.

Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study
April 15 2019

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. Vascular Ehlers-Danlos Syndrome: Long-Term Observational Study. J Am Coll Cardiol. 2019 Apr 23;73(15):1948-1957. doi: 10.1016/j.jacc.2019.01.058. PMID: 30999998.

Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome
November 26 2018

Legrand A, Devriese M, Dupuis-Girod S, Simian C, Venisse A, Mazzella JM, Auribault K, Adham S, Frank M, Albuisson J, Jeunemaitre X. Frequency of de novo variants and parental mosaicism in vascular Ehlers-Danlos syndrome. Genet Med. 2019 Jul;21(7):1568-1575. doi: 10.1038/s41436-018-0356-2. Epub 2018 Nov 26. PMID: 30474650.

The 2017 international classification of the Ehlers-Danlos syndromes
March 17 2017

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. The 2017 international classification of the Ehlers-Danlos syndromes. 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
November 04 2016

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. Recognizing the tenascin-X deficient type of Ehlers-Danlos syndrome: a cross-sectional study in 17 patients. Clin Genet. 2017 Mar;91(3):411-425. doi: 10.1111/cge.12853. Epub 2016 Nov 4. PMID: 27582382.

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