Zobrazeno 1 - 10
of 12
pro vyhledávání: '"Juliette Albuisson"'
Autor:
Yonatan Levin, Shoshana Shpitzen, Noga Reshef, Guy Kelman, Dan Gilon, Juliette Albuisson, Jean-Michaël Mazzella, Donna R. Zwas, Idit Tessler, Galina Levin, Emmanuel Messas, Ronen Durst, Shai Carmi, Guillaume Goudot, Charles Cheng
Publikováno v:
American Journal of Cardiology
American Journal of Cardiology, 2022, 163, pp.85-90. ⟨10.1016/j.amjcard.2021.09.051⟩
American Journal of Cardiology, 2022, 163, pp.85-90. ⟨10.1016/j.amjcard.2021.09.051⟩
International audience; Bicuspid aortic valve (BAV) is a common congenital heart disease, with a 10-fold higher prevalence in first-degree relatives. BAV has different phenotypes based on the morphology of cusp fusion. These phenotypes are associated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78c3b449fb57fac722e28416b96da517
https://www.hal.inserm.fr/inserm-03880653/document
https://www.hal.inserm.fr/inserm-03880653/document
Publikováno v:
Vascular Medicine. 24:461-464
Pseudoxanthoma elasticum (PXE) is a rare disorder characterized by skin, eye, and cardiovascular lesions due to ectopic mineralization and fragmentation of elastic fibers of connective tissues. We present an atypical case of PXE with diffuse vascular
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:
Christophe Philippe, Florence Petit, Justine Pasteur, Sandra Whalen, J. Mazereeuw, Nenad Bukvic, Annabel Maruani, Arthur Sorlin, Marjolaine Willems, V. Carmignac, Emmanuelle Bourrat, Alice Goldenberg, Maud Jordan, Pierre Vabres, Smail Hadj-Rabia, Marine Fournet, Bruno Delobel, Jehanne Martel, Anne-Claire Bursztejn, Alice Phan, Fanny Morice-Picard, Cyril Mignot, Luca Borradori, Odile Boute, Paul Kuentz, Antoine Mahé, Marie-Laure Moutard, Juliette Albuisson, Christine Chiaverini
Publikováno v:
Jordan, Maud; Carmignac, Virginie; Sorlin, Arthur; Kuentz, Paul; Albuisson, Juliette; Borradori, Luca; Bourrat, Emmanuelle; Boute, Odile; Bukvic, Nenad; Bursztejn, Anne-Claire; Chiaverini, Christine; Delobel, Bruno; Fournet, Marine; Martel, Jehanne; Goldenberg, Alice; Hadj-Rabia, Smaïl; Mahé, Antoine; Maruani, Annabel; Mazereeuw, Juliette; Mignot, Cyril; ... (2020). Reverse phenotyping in patients with skin capillary malformations and mosaic GNAQ or GNA11 mutations defines a clinical spectrum with genotype-phenotype correlation. Journal of investigative dermatology, 140(5), 1106-1110.e2. Elsevier 10.1016/j.jid.2019.08.455
Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2019, ⟨10.1016/j.jid.2019.08.455⟩
Journal of Investigative Dermatology
Journal of Investigative Dermatology, Nature Publishing Group, 2019, ⟨10.1016/j.jid.2019.08.455⟩
International audience; No abstract available
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::152c5c8ffb4444f2b96266b779639851
https://boris.unibe.ch/136733/1/borradori.pdf
https://boris.unibe.ch/136733/1/borradori.pdf
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:
Judith St-Onge, Yannis Duffourd, Sandra Whalen, Marjolaine Willems, Anne-Claire Bursztejn, Massimiliano Rossi, Bertrand Isidor, Patrick Edery, Odile Boute, Virginie Carmignac, J. Miquel, Sébastien Barbarot, Daniel Amram, Fanny Morice-Picard, A. Phan, Pierre Vabres, Didier Lacombe, Maryse Bonnière, Jean-Baptiste Rivière, Nadia Bahi-Buisson, Catherine Vincent-Delorme, Thibaud Jouan, Paul Kuentz, Caroline Michot, Renaud Touraine, Jean-Benoît Courcet, Christine Francannet, Marie Vincent, Smail Hadj-Rabia, Valérie Cormier-Daire, Christine Coubes, Cyril Mignot, Nathalie Marle, Jeanne Amiel, Michèle Mathieu-Dramard, Philippe Khau Van Kien, Juliette Mazereeuw-Hautier, Annabel Maruani, Salima El Chehadeh, Geneviève Baujat, Christine Chiaverini, Daphné Lehalle, Arthur Sorlin, Florence Petit, Bruno Delobel, Laurence Faivre, Julien Thevenon, Stéphanie Arpin, Didier Bessis, Damien Haye, David Geneviève, Tania Attié-Bitach, Claire Abasq-Thomas, Jelena Martinovic, Alain Verloes, Christel Thauvin-Robinet, Juliette Albuisson, Marie-Line Jacquemont, Alice Goldenberg, Olivia Boccara, Ludovic Martin
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 19(9)
Postzygotic activating mutations of PIK3CA cause a wide range of mosaic disorders collectively referred to as PIK3CA-related overgrowth spectrum (PROS). We describe the diagnostic yield and characteristics of PIK3CA sequencing in PROS. We performed u
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:
Jean-Michael Mazzella, Patrick Collignon, Xavier Jeunemaitre, Anne Legrand, Michael M. Frank, Maud Langeois, Juliette Albuisson
Publikováno v:
Clinical genetics. 91(3)
Syndromic thoracic aortic aneurysm and dissection (TAAD) can suggest Marfan, vascular Ehlers-Danlos or Loeys-Dietz (LDS) syndromes. Several of the TGFβ-pathway-related genes predispose to different types of LDS. Heterozygous loss-of-function variati
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