Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Juliette Albuisson"'
Autor:
Xavier Jeunemaitre, Christophe Orssaud, Mathilde Renaud, Clarisse Billon, Lucia Ziccardi, Claire Pujol, Nicolas Villain, Christophe Duranton, Cyril Mignot, Ana Berta Sousa, Carlo Casali, Claire Ewenczyk, Nicolas Pietrancosta, Jean-Luc Boucher, Cecilia Marelli, Alexandra Durr, Juliette Albuisson, Marguerite Hureaux, Isabelle Rubera, Anne Legrand, Cyril Goizet, Stéphane Zuily, Giovanni Stevanin, Aurélie Mesnil, Christelle M Durand, Salma Adham
Publikováno v:
Journal of Internal Medicine
Journal of Internal Medicine, Wiley, 2020, ⟨10.1111/joim.13193⟩
Journal of Internal Medicine, 2020, ⟨10.1111/joim.13193⟩
Journal of Internal Medicine, Wiley, 2020, ⟨10.1111/joim.13193⟩
Journal of Internal Medicine, 2020, ⟨10.1111/joim.13193⟩
Purpose Pseudoxanthoma elasticum (PXE) is a recessive disorder involving skin, eyes and arteries, mainly caused by ABCC6 pathogenic variants. However, almost one fifth of patients remain genetically unsolved despite extensive genetic screening of ABC
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d75dba746f3f2ab1e3be43c54257050b
http://hdl.handle.net/20.500.12278/113321
http://hdl.handle.net/20.500.12278/113321
Autor:
Patrick Bruneval, Andrzej Januszewicz, Ewa Warchoł-Celińska, M. Azizi, Délia Dupré, Adrien Georges, Heather L. Gornik, Pascal Motreff, Takiy-Eddine Berrandou, Santhi K. Ganesh, Xavier Jeunemaitre, Aurélien Lorthioir, Anna A Baranowska, Nicolas Combaret, Nabila Bouatia-Naji, David Adlam, Valentina d'Escamard, J.L. Kovacic, Laurence Amar, Juliette Albuisson
Publikováno v:
Archives of Cardiovascular Diseases Supplements. 12:216
Background Fibromuscular Dysplasia (FMD) and Spontaneous Coronary Artery Dissection (SCAD) are related, non-atherosclerotic arterial diseases mainly affecting middle-aged women. Little is known about their physiopathological mechanisms. Objectives We
Autor:
Elisabeth Gillis, Ajay A. Kumar, Ilse Luyckx, Christoph Preuss, Elyssa Cannaerts, Gerarda van de Beek, Björn Wieschendorf, Maaike Alaerts, Nikhita Bolar, Geert Vandeweyer, Josephina Meester, Florian Wünnemann, Russell A. Gould, Rustam Zhurayev, Dmytro Zerbino, Salah A. Mohamed, Seema Mital, Luc Mertens, Hanna M. Björck, Anders Franco-Cereceda, Andrew S. McCallion, Lut Van Laer, Judith M. A. Verhagen, Ingrid M. B. H. van de Laar, Marja W. Wessels, Emmanuel Messas, Guillaume Goudot, Michaela Nemcikova, Alice Krebsova, Marlies Kempers, Simone Salemink, Toon Duijnhouwer, Xavier Jeunemaitre, Juliette Albuisson, Per Eriksson, Gregor Andelfinger, Harry C. Dietz, Aline Verstraeten, Bart L. Loeys, Mibava Leducq Consortium
Publikováno v:
Frontiers in Physiology, Vol 8 (2017)
Frontiers in Physiology
Frontiers in Physiology
textabstractIn the original article, we noted two mutation annotation errors. The correction of these two mistakes does not change the scientific conclusions in any way. The authors apologize for these nomenclature errors. Please find below the corre
Autor:
Michael Frank, Brigitte Ranque, Jean-Michael Mazzella, Laurence Bal-Theoleyre, Elie Mousseaux, Joseph Emmerich, Juliette Albuisson, Pierre Boutouyrie, Xavier Jeunemaitre, Anne-Laure Fauret, Tristan Mirault, Emmanuel Messas, Lisa Golmard, Nicolas Denarié, Jean-Noël Fiessinger
Publikováno v:
European Journal of Human Genetics. 23:1657-1664
Vascular Ehlers–Danlos syndrome (vEDS) is a rare and severe autosomal dominant disorder caused by variants at the COL3A1 gene. Clinical characteristics and course of disease of 215 molecularly proven patients (146 index cases and 69 relatives) were
Autor:
Valérie Boccio, Jean-Michael Mazzella, Annabelle Venisse, Karine Auribault, Boris Keren, Michael Frank, Wafa Samkari, Xavier Jeunemaitre, Anne Legrand, Laurence Cornez, Dominique P. Germain, Karelle Benistan, Juliette Albuisson
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2017, 19 (8), pp.909-917. ⟨10.1038/gim.2016.213⟩
Genetics in Medicine, 2017, 19 (8), pp.909-917. ⟨10.1038/gim.2016.213⟩
Genetics in Medicine, Nature Publishing Group, 2017, 19 (8), pp.909-917. ⟨10.1038/gim.2016.213⟩
Genetics in Medicine, 2017, 19 (8), pp.909-917. ⟨10.1038/gim.2016.213⟩
International audience; Purpose: Pseudoxanthoma elasticum (PXE) is an autosomal recessive disorder caused by variants in the ABCC6 gene. Ectopic mineralization of connective tissues leads to skin, eye, and cardiovascular manifestations with considera
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::764bf321c5fa28391122a94476456dd4
https://hal.archives-ouvertes.fr/hal-01879799
https://hal.archives-ouvertes.fr/hal-01879799
Autor:
Elisabeth Gillis, Ajay A. Kumar, Ilse Luyckx, Christoph Preuss, Elyssa Cannaerts, Gerarda van de Beek, Björn Wieschendorf, Maaike Alaerts, Nikhita Bolar, Geert Vandeweyer, Josephina Meester, Florian Wünnemann, Russell A. Gould, Rustam Zhurayev, Dmytro Zerbino, Salah A. Mohamed, Seema Mital, Luc Mertens, Hanna M. Björck, Anders Franco-Cereceda, Andrew S. McCallion, Lut Van Laer, Judith M. A. Verhagen, Ingrid M. B. H. van de Laar, Marja W. Wessels, Emmanuel Messas, Guillaume Goudot, Michaela Nemcikova, Alice Krebsova, Marlies Kempers, Simone Salemink, Toon Duijnhouwer, Xavier Jeunemaitre, Juliette Albuisson, Per Eriksson, Gregor Andelfinger, Harry C. Dietz, Aline Verstraeten, Bart L. Loeys, Mibava Leducq Consortium
Publikováno v:
Frontiers in Physiology, 8:400. Frontiers Media S.A.
Frontiers in Physiology
Frontiers in Physiology, Vol 8 (2017)
Frontiers in Physiology, 8
Frontiers in physiology
Frontiers in Physiology
Frontiers in Physiology, Vol 8 (2017)
Frontiers in Physiology, 8
Frontiers in physiology
Contains fulltext : 176973.pdf (Publisher’s version ) (Open Access) Bicuspid aortic valve (BAV) is the most common congenital heart defect. Although many BAV patients remain asymptomatic, at least 20% develop thoracic aortic aneurysm (TAA). Histori
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3fe1750ddfe9e317580c8a000ebc780
https://pure.eur.nl/en/publications/717a5bb1-0038-4885-b151-323255ce4891
https://pure.eur.nl/en/publications/717a5bb1-0038-4885-b151-323255ce4891
Autor:
Xavier Jeunemaitre, Dominique P. Germain, Juliette Albuisson, Anne Legrand, Waf Samkari, Laurence Cornez
Publikováno v:
Archives of Cardiovascular Diseases Supplements. 8(3)
Pseudoxanthoma elasticum (PXE) is a rare, autosomal-recessive disorder, characterized by ectopic mineralization and fragmentation of elastic fibers of connective tissues. Organs primarily affected are skin, eyes and cardiovascular system. PXE is caus
Autor:
Paola G. Meregalli, Zahurul A. Bhuiyan, Hervé Le Marec, Philippe Mabo, Arthur A.M. Wilde, Tamara T. Koopmann, Frederic Sacher, Hanno L. Tan, Jean-Jacques Schott, Florence Kyndt, Vincent Probst, Michael W.T. Tanck, Connie R. Bezzina, Juliette Albuisson
Publikováno v:
Heart Rhythm
Heart Rhythm, Elsevier, 2009, 6 (3), pp.341-8. ⟨10.1016/j.hrthm.2008.11.009⟩
Heart rhythm, 6(3), 341-348. Elsevier
Heart Rhythm, Elsevier, 2009, 6 (3), pp.341-8. ⟨10.1016/j.hrthm.2008.11.009⟩
Heart rhythm, 6(3), 341-348. Elsevier
International audience; BACKGROUND: Patients carrying loss-of-function SCN5A mutations linked to Brugada syndrome (BrS) or progressive cardiac conduction disease (PCCD) are at risk of sudden cardiac death at a young age. The penetrance and expressivi
Autor:
Jean Pierre De Jaureguiberry, Pierre-Simon Rohrlich, Loïc Garçon, Gérard Tertian, Swetha E. Murthy, Madeleine Fénéant-Thibault, Michael Bandell, Xavier Jeunemaitre, Fabienne Toutain, Véronique Picard, Bertrand Coste, Juliette Albuisson, Pierre Yves Syfuss, Stuart M. Cahalan, Ardem Patapoutian, Hélène Louis-Dit-Picard, Jean Delaunay, Jayanti Mathur
Publikováno v:
Nature Communications
Nature Communications, Nature Publishing Group, 2013, 4 (1), pp.1884. ⟨10.1038/ncomms2899⟩
Nature communications
Nature Communications, 2013, 4 (1), pp.1884. ⟨10.1038/ncomms2899⟩
Nature Communications, Nature Publishing Group, 2013, 4, pp.1884. 〈10.1038/ncomms2899〉
Nature Communications, Nature Publishing Group, 2013, 4 (1), pp.1884. ⟨10.1038/ncomms2899⟩
Nature communications
Nature Communications, 2013, 4 (1), pp.1884. ⟨10.1038/ncomms2899⟩
Nature Communications, Nature Publishing Group, 2013, 4, pp.1884. 〈10.1038/ncomms2899〉
International audience; Dehydrated hereditary stomatocytosis is a genetic condition with defective red blood cell membrane properties that causes an imbalance in intracellular cation concentrations. Recently, two missense mutations in the mechanicall