Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Mélanie Eyries"'
Autor:
Omar Soukarieh, Emmanuelle Tillet, Carole Proust, Charlène Dupont, Béatrice Jaspard-Vinassa, Florent Soubrier, Aurélie Goyenvalle, Mélanie Eyries, David-Alexandre Trégouët
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-9 (2023)
Abstract Hereditary Hemorrhagic Telangiectasia (HHT) is a rare, autosomal dominant, vascular disorder. About 80% of cases are caused by pathogenic variants in ACVRL1 (also known as ALK1) and ENG, with the remaining cases being unexplained. We identif
Externí odkaz:
https://doaj.org/article/db17dcabceb24f659a6d0a198c2d9022
Autor:
Athénaïs Boucly, Sabina Solinas, Antoine Beurnier, Xavier Jaïs, Sophia Keddache, Mélanie Eyries, Andrei Seferian, Mitja Jevnikar, Anne Roche, Sophie Bulifon, Arnaud Bourdin, Ari Chaouat, Vincent Cottin, Laurent Bertoletti, Laurent Savale, Marc Humbert, Olivier Sitbon, David Montani
Publikováno v:
ERJ Open Research, Vol 10, Iss 1 (2024)
Introduction Pulmonary veno-occlusive disease (PVOD) is a rare and severe subtype of pulmonary arterial hypertension (PAH). Although European Society of Cardiology/European Respiratory Society (ESC/ERS) guidelines advise assessing PAH severity at bas
Externí odkaz:
https://doaj.org/article/a3a5886fc8314a5fa2fce871c4885790
Autor:
Berivan Tas, Daniele Starnoni, Stanislas Smajda, Alexandre J. Vivanti, Catherine Adamsbaum, Mélanie Eyries, Judith Melki, Marcel Tawk, Augustin Ozanne, Nicole Revencu, Florent Soubrier, Selima Siala, Miikka Vikkula, Kumaran Deiva, Guillaume Saliou
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
ObjectiveTo study the genotypes and phenotypes of cerebral arteriovenous fistulas that drain or do not drain through the vein of Galen, and true vein of Galen aneurysmal malformations, in order to determine whether genotyping could help improve class
Externí odkaz:
https://doaj.org/article/f2cfff4171da43f9be891ec0852947f9
Autor:
Omar Soukarieh, Caroline Meguerditchian, Carole Proust, Dylan Aïssi, Mélanie Eyries, Aurélie Goyenvalle, David-Alexandre Trégouët
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 9 (2022)
High-throughput sequencing (HTS) technologies are revolutionizing the research and molecular diagnosis landscape by allowing the exploration of millions of nucleotide sequences at an unprecedented scale. These technologies are of particular interest
Externí odkaz:
https://doaj.org/article/855c4ba593564fb58cf7a3e3fbf52c62
Autor:
Sophie Giraud, Claire Bardel, Sophie Dupuis-Girod, Marie-France Carette, Brigitte Gilbert-Dussardier, Sophie Riviere, Jean-Christophe Saurin, Mélanie Eyries, Sylvie Patri, Evelyne Decullier, Alain Calender, Gaëtan Lesca
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)
Abstract Background Hereditary Hemorrhagic Telangiectasia (HHT) is an autosomal dominant disorder characterized by multiple telangiectases and caused by germline disease-causing variants in the ENG (HHT1), ACVRL1 (HHT2) and, to a lesser extent MADH4
Externí odkaz:
https://doaj.org/article/6cb683a8210448e4a726913c553472f1
Autor:
Jacques Sellier, Carma Karam, Alain Beauchet, Axel Dallongeville, Stephen Binsse, Sandra Blivet, Isabelle Bourgault-Villada, Philippe Charron, Thierry Chinet, Mélanie Eyries, Carole Fagnou, Jérome Lesniak, Gilles Lesur, Jérome Lucas, Agnès Nicod-Tran, Augustin Ozanne, Aurélien Palmyre, Florent Soubrier, Mostafa El Hajjam, Pascal Lacombe
Publikováno v:
PLoS ONE, Vol 15, Iss 1, p e0226681 (2020)
BACKGROUND:Splenic artery aneurysm (SAA) is a rare but potentially fatal condition. Rupture results in 25% mortality up to 75% in pregnant women with 95% fetal mortality. Brief reports suggest an increased risk of developing SAA in patients with HHT.
Externí odkaz:
https://doaj.org/article/5b17dd447d8143a092231c0c98dad292
Autor:
Stefan Gräf, Matthias Haimel, Marta Bleda, Charaka Hadinnapola, Laura Southgate, Wei Li, Joshua Hodgson, Bin Liu, Richard M. Salmon, Mark Southwood, Rajiv D. Machado, Jennifer M. Martin, Carmen M. Treacy, Katherine Yates, Louise C. Daugherty, Olga Shamardina, Deborah Whitehorn, Simon Holden, Micheala Aldred, Harm J. Bogaard, Colin Church, Gerry Coghlan, Robin Condliffe, Paul A. Corris, Cesare Danesino, Mélanie Eyries, Henning Gall, Stefano Ghio, Hossein-Ardeschir Ghofrani, J. Simon R. Gibbs, Barbara Girerd, Arjan C. Houweling, Luke Howard, Marc Humbert, David G. Kiely, Gabor Kovacs, Robert V. MacKenzie Ross, Shahin Moledina, David Montani, Michael Newnham, Andrea Olschewski, Horst Olschewski, Andrew J. Peacock, Joanna Pepke-Zaba, Inga Prokopenko, Christopher J. Rhodes, Laura Scelsi, Werner Seeger, Florent Soubrier, Dan F. Stein, Jay Suntharalingam, Emilia M. Swietlik, Mark R. Toshner, David A. van Heel, Anton Vonk Noordegraaf, Quinten Waisfisz, John Wharton, Stephen J. Wort, Willem H. Ouwehand, Nicole Soranzo, Allan Lawrie, Paul D. Upton, Martin R. Wilkins, Richard C. Trembath, Nicholas W. Morrell
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-16 (2018)
Pulmonary arterial hypertension (PAH) is a rare lung disorder characterised by narrowing and obliteration of small pulmonary arteries ultimately leading to right heart failure. Here, the authors sequence whole genomes of over 1000 PAH patients and id
Externí odkaz:
https://doaj.org/article/cb3171b4e79940aa9ab812b5a9ce621a
Autor:
Justyna A. Karolak, Carrie L. Welch, Christian Mosimann, Katarzyna Bzdęga, James D. West, David Montani, Mélanie Eyries, Mary P. Mullen, Steven H. Abman, Matina Prapa, Stefan Gräf, Nicholas W. Morrell, Anna R. Hemnes, Frédéric Perros, Rizwan Hamid, Malcolm P. O. Logan, Jeffrey Whitsett, Csaba Galambos, Paweł Stankiewicz, Wendy K. Chung, Eric D. Austin
Publikováno v:
American Journal of Respiratory and Critical Care Medicine. 207:855-864
Publikováno v:
Chest.
Autor:
Mélanie Eyries, Olivier Ariste, Gaelle Legrand, Noémie Basset, Erell Guillerm, Alexandre Perrier, Caroline Duros, Odile Cohen-Haguenauer, Pierre de la Grange, Florence Coulet
Publikováno v:
European Journal of Human Genetics. 30:1187-1190
Despite routine analysis of a large panel of genes, pathogenic variants are only detected in approximately 20% of families with hereditary breast and/or ovarian cancer. Mobile element insertions (MEI) are known to cause genetic diseases in humans, bu