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Page 1
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.
Arterial tortuosity syndrome: early diagnosis and association with venous tortuosity.
Moceri P, Albuisson J, Saint-Faust M, Casagrande F, Giuliano F, Devos C, Benoit P, Hugues N, Ducreux D, Cerboni P, Dageville C, Jeunemaitre X. Moceri P, et al. Among authors: albuisson j. J Am Coll Cardiol. 2013 Feb 19;61(7):783. doi: 10.1016/j.jacc.2012.06.070. J Am Coll Cardiol. 2013. PMID: 23410549 Free article. No abstract available.
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.
Albuisson J, Murthy SE, Bandell M, Coste B, Louis-Dit-Picard H, Mathur J, Fénéant-Thibault M, Tertian G, de Jaureguiberry JP, Syfuss PY, Cahalan S, Garçon L, Toutain F, Simon Rohrlich P, Delaunay J, Picard V, Jeunemaitre X, Patapoutian A. Albuisson J, et al. Nat Commun. 2013;4:1884. doi: 10.1038/ncomms2899. Nat Commun. 2013. PMID: 23695678 Free PMC article.
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.
PHACTR1 Is a Genetic Susceptibility Locus for Fibromuscular Dysplasia Supporting Its Complex Genetic Pattern of Inheritance.
Kiando SR, Tucker NR, Castro-Vega LJ, Katz A, D'Escamard V, Tréard C, Fraher D, Albuisson J, Kadian-Dodov D, Ye Z, Austin E, Yang ML, Hunker K, Barlassina C, Cusi D, Galan P, Empana JP, Jouven X, Gimenez-Roqueplo AP, Bruneval P, Hyun Kim ES, Olin JW, Gornik HL, Azizi M, Plouin PF, Ellinor PT, Kullo IJ, Milan DJ, Ganesh SK, Boutouyrie P, Kovacic JC, Jeunemaitre X, Bouatia-Naji N. Kiando SR, et al. Among authors: albuisson j. PLoS Genet. 2016 Oct 28;12(10):e1006367. doi: 10.1371/journal.pgen.1006367. eCollection 2016 Oct. PLoS Genet. 2016. PMID: 27792790 Free PMC article.
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.
61 results