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Page 1
Copy number variation analysis in bicuspid aortic valve-related aortopathy identifies TBX20 as a contributing gene.
Luyckx I, Kumar AA, Reyniers E, Dekeyser E, Vanderstraeten K, Vandeweyer G, Wünnemann F, Preuss C, Mazzella JM, Goudot G, Messas E, Albuisson J, Jeunemaitre X, Eriksson P, Mohamed SA, Kempers M, Salemink S, Duijnhouwer A, Andelfinger G, Dietz HC, Verstraeten A, Van Laer L, Loeys BL; MIBAVA Leducq Consortium. Luyckx I, et al. Among authors: albuisson j. Eur J Hum Genet. 2019 Jul;27(7):1033-1043. doi: 10.1038/s41431-019-0364-y. Epub 2019 Feb 28. Eur J Hum Genet. 2019. PMID: 30820038 Free PMC article. Clinical Trial.
Clinical utility gene card for: Arterial tortuosity syndrome.
Albuisson J, Moceri P, Flori E, Belli E, Gronier C, Jeunemaitre X. Albuisson J, et al. Eur J Hum Genet. 2015 Oct;23(10):1432. doi: 10.1038/ejhg.2014.294. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604859 Free PMC article. No abstract available.
The type of variants at the COL3A1 gene associates with the phenotype and severity of vascular Ehlers-Danlos syndrome.
Frank M, Albuisson J, Ranque B, Golmard L, Mazzella JM, Bal-Theoleyre L, Fauret AL, Mirault T, Denarié N, Mousseaux E, Boutouyrie P, Fiessinger JN, Emmerich J, Messas E, Jeunemaitre X. Frank M, et al. Among authors: albuisson j. Eur J Hum Genet. 2015 Dec;23(12):1657-64. doi: 10.1038/ejhg.2015.32. Epub 2015 Mar 11. Eur J Hum Genet. 2015. PMID: 25758994 Free PMC article.
Isolated arterial calcifications of the lower extremities: A clue for NT5E mutation.
de Nijs T, Albuisson J, Ockeloen CW, Legrand A, Jeunemaitre X, Schultze Kool LJ, Riksen NP. de Nijs T, et al. Among authors: albuisson j. Int J Cardiol. 2016 Jun 1;212:248-50. doi: 10.1016/j.ijcard.2016.03.068. Epub 2016 Mar 19. Int J Cardiol. 2016. PMID: 27045881 Free article. No abstract available.
Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.
Gillis E, Kumar AA, Luyckx I, Preuss C, Cannaerts E, van de Beek G, Wieschendorf B, Alaerts M, Bolar N, Vandeweyer G, Meester J, Wünnemann F, Gould RA, Zhurayev R, Zerbino D, Mohamed SA, Mital S, Mertens L, Björck HM, Franco-Cereceda A, McCallion AS, Van Laer L, Verhagen JMA, van de Laar IMBH, Wessels MW, Messas E, Goudot G, Nemcikova M, Krebsova A, Kempers M, Salemink S, Duijnhouwer T, Jeunemaitre X, Albuisson J, Eriksson P, Andelfinger G, Dietz HC, Verstraeten A, Loeys BL; Mibava Leducq Consortium. Gillis E, et al. Among authors: albuisson j. Front Physiol. 2017 Jun 13;8:400. doi: 10.3389/fphys.2017.00400. eCollection 2017. Front Physiol. 2017. PMID: 28659821 Free PMC article.
Corrigendum: Candidate Gene Resequencing in a Large Bicuspid Aortic Valve-Associated Thoracic Aortic Aneurysm Cohort: SMAD6 as an Important Contributor.
Gillis E, Kumar AA, Luyckx I, Preuss C, Cannaerts E, van de Beek G, Wieschendorf B, Alaerts M, Bolar N, Vandeweyer G, Meester J, Wünnemann F, Gould RA, Zhurayev R, Zerbino D, Mohamed SA, Mital S, Mertens L, Björck HM, Franco-Cereceda A, McCallion AS, Van Laer L, Verhagen JMA, van de Laar IMBH, Wessels MW, Messas E, Goudot G, Nemcikova M, Krebsova A, Kempers M, Salemink S, Duijnhouwer T, Jeunemaitre X, Albuisson J, Eriksson P, Andelfinger G, Dietz HC, Verstraeten A, Loeys BL; Mibava Leducq Consortium. Gillis E, et al. Among authors: albuisson j. Front Physiol. 2017 Sep 25;8:730. doi: 10.3389/fphys.2017.00730. eCollection 2017. Front Physiol. 2017. PMID: 28974934 Free PMC article.
Arterial tortuosity syndrome: 40 new families and literature review.
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B. Beyens A, et al. Among authors: albuisson j. Genet Med. 2018 Oct;20(10):1236-1245. doi: 10.1038/gim.2017.253. Epub 2018 Jan 11. Genet Med. 2018. PMID: 29323665 Free article.
Clinical utility gene card: for pseudoxanthoma elasticum.
Legrand A, Benistan K, Mazzella JM, Adham S, Frank M, Jeunemaitre X, Albuisson J. Legrand A, et al. Among authors: albuisson j. Eur J Hum Genet. 2018 Jun;26(6):919-924. doi: 10.1038/s41431-017-0090-2. Epub 2018 Feb 27. Eur J Hum Genet. 2018. PMID: 29487417 Free PMC article. No abstract available.
61 results