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Prenatal molecular diagnosis in RASA1-related disease.
Published in:
2017
By:
- Palmyre, Aurélien;
- Eyries, Mélanie;
- Senat, Marie‐Victoire;
- Ozanne, Augustin;
- Staraci, Stéphanie;
- Dufour, Philippe;
- Chinet, Thierry;
- Lacombe, Pascal;
- Soubrier, Florent;
- Charron, Philippe;
- Palmyre, Aurélien;
- Eyries, Mélanie;
- Senat, Marie-Victoire;
- Staraci, Stéphanie
Publication type:
journal article
Soft tissue angiomatosis: another PIK3CA‐related disorder.
Published in:
Histopathology, 2020, v. 76, n. 4, p. 540, doi. 10.1111/his.14021
By:
- Boccara, Olivia;
- Galmiche‐Rolland, Louise;
- Dadone‐Montaudié, Bérengère;
- Ariche‐Maman, Sonia;
- Coulet, Florence;
- Eyries, Mélanie;
- Pannier, Stéphanie;
- Soupre, Véronique;
- Molina, Thierry;
- Pedeutour, Florence;
- Fraitag, Sylvie
Publication type:
Article
Sequence variations of ACVRL1 play a critical role in hepatic vascular malformations in hereditary hemorrhagic telangiectasia.
Published in:
2020
By:
- Giraud, Sophie;
- Bardel, Claire;
- Dupuis-Girod, Sophie;
- Carette, Marie-France;
- Gilbert-Dussardier, Brigitte;
- Riviere, Sophie;
- Saurin, Jean-Christophe;
- Eyries, Mélanie;
- Patri, Sylvie;
- Decullier, Evelyne;
- Calender, Alain;
- Lesca, Gaëtan
Publication type:
journal article
Role of KCNK3 Dysfunction in Dasatinib-associated Pulmonary Arterial Hypertension and Endothelial Cell Dysfunction.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2024, v. 71, n. 1, p. 95, doi. 10.1165/rcmb.2023-0185OC
By:
- Ribeuz, Hélène Le;
- Willer, Anaïs Saint-Martin;
- Chevalier, Benoit;
- Sancho, Maria;
- Masson, Bastien;
- Eyries, Mélanie;
- Jung, Vincent;
- Guerrera, Ida Chiara;
- Dutheil, Mary;
- Jekmek, Kristelle El;
- Laubry, Loann;
- Carpentier, Gilles;
- Perez-Vizcaino, Francisco;
- Tu, Ly;
- Guignabert, Christophe;
- Chaumais, Marie-Camille;
- Péchoux, Christine;
- Humbert, Marc;
- Hinzpeter, Alexandre;
- Mercier, Olaf
Publication type:
Article
Pulmonary Veno-Occlusive Disease and Pulmonary Fibrosis in a Family with EIF2AK4 Pathogenic Variants.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2024, v. 70, n. 2, p. E1, doi. 10.1165/rcmb.2023-0166le
By:
- VETEL, Kelly;
- EYRIES, Mélanie;
- SAVALE, Laurent;
- KANENGIESSER, Caroline;
- BORIE, Raphael;
- HUMBERT, Marc;
- MONTANI, David
Publication type:
Article
Pulmonary Veno-Occlusive Disease and Pulmonary Fibrosis in a Family with EIF2AK4 Pathogenic Variants.
Published in:
American Journal of Respiratory Cell & Molecular Biology, 2024, v. 70, n. 2, p. 143, doi. 10.1165/rcmb.2023-0166le
By:
- Vetel, Kelly;
- Eyries, Mélanie;
- Savale, Laurent;
- Kanengiesser, Caroline;
- Borie, Raphael;
- Humbert, Marc;
- Montani, David
Publication type:
Article
Non-invasive CT screening for pulmonary arteriovenous malformations in children with confirmed hereditary hemorrhagic telangiectasia: Results from two pediatric centers.
Published in:
Pediatric Pulmonology, 2017, v. 52, n. 5, p. 642, doi. 10.1002/ppul.23649
By:
- Soysal, Nurcan;
- Eyries, Mélanie;
- Verlhac, Suzanne;
- Escabasse, Virginie;
- Remus, Natascha;
- Tamalet, Aline;
- Rioux, Jean-Yves;
- Franchi-Abella, Stéphanie;
- Vasile, Manuela;
- Robert, Sarah;
- Delestrain, Céline;
- Hau, Isabelle;
- Ducou-Le Pointe, Hubert;
- Soubrier, Florent;
- Carette, Marie-France;
- Epaud, Ralph
Publication type:
Article
Molecular Function and Contribution of in Development and Disease.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2023, v. 207, n. 7, p. 855, doi. 10.1164/rccm.202206-1039TR
By:
- Karolak, Justyna A.;
- Welch, Carrie L.;
- Mosimann, Christian;
- Bzdęga, Katarzyna;
- West, James D.;
- Montani, David;
- Eyries, Mélanie;
- Mullen, Mary P.;
- Abman, Steven H.;
- Prapa, Matina;
- Gräf, Stefan;
- Morrell, Nicholas W.;
- Hemnes, Anna R.;
- Perros, Frédéric;
- Hamid, Rizwan;
- Logan, Malcolm P. O.;
- Whitsett, Jeffrey;
- Galambos, Csaba;
- Stankiewicz, Paweł;
- Chung, Wendy K.
Publication type:
Article
Molecular function and contribution of TBX4 in development and disease.
Published in:
2023
By:
- Karolak, Justyna A.;
- Welch, Carrie L.;
- Mosimann, Christian;
- Bzdęga, Katarzyna;
- West, James D.;
- Montani, David;
- Eyries, Mélanie;
- Mullen, Mary P.;
- Abman, Steven H.;
- Prapa, Matina;
- Gräf, Stefan;
- Morrell, Nicholas W.;
- Hemnes, Anna R.;
- Perros, Frédéric;
- Hamid, Rizwan;
- Logan, Malcolm P. O.;
- Whitsett, Jeffrey;
- Galambos, Csaba;
- Stankiewicz, Paweł;
- Chung, Wendy K.
Publication type:
Chart/Diagram/Graph
First Genotype--Phenotype Study in TBX4 Syndrome: Gain-of-Function Mutations Causative for Lung Disease.
Published in:
American Journal of Respiratory & Critical Care Medicine, 2022, v. 206, n. 12, p. 1522, doi. 10.1164/rccm.202203-0485OC
By:
- Prapa, Matina;
- Lago-Docampo, Mauro;
- Swietlik, Emilia M.;
- Montani, David;
- Eyries, Mélanie;
- Humbert, Marc;
- Welch, Carrie L.;
- Chung, Wendy K.;
- Berger, Rolf M. F.;
- Bogaard, Harm Jan;
- Danhaive, Olivier;
- Escribano-Subías, Pilar;
- Gall, Henning;
- Girerd, Barbara;
- Hernandez-Gonzalez, Ignacio;
- Holden, Simon;
- Hunt, David;
- Jansen, Samara M. A.;
- Kerstjens-Frederikse, Wilhelmina;
- Kiely, David G.
Publication type:
Article
Clinical and genetic findings in children with central nervous system arteriovenous fistulas.
Published in:
2017
By:
- Saliou, Guillaume;
- Eyries, Mélanie;
- Iacobucci, Marta;
- Knebel, Jean‐François;
- Waill, Marie‐Christine;
- Coulet, Florence;
- Ozanne, Augustin;
- Soubrier, Florent
Publication type:
journal article
Outcomes and risk assessment in pulmonary veno-occlusive disease.
Published in:
ERJ Open Research, 2024, v. 10, n. 1, p. 1, doi. 10.1183/23120541.00612-2023
By:
- Boucly, Athénaïs;
- Solinas, Sabina;
- Beurnier, Antoine;
- Jaïs, Xavier;
- Keddache, Sophia;
- Eyries, Mélanie;
- Seferian, Andrei;
- Jevnikar, Mitja;
- Roche, Anne;
- Bulifon, Sophie;
- Bourdin, Arnaud;
- Chaouat, Ari;
- Cottin, Vincent;
- Bertoletti, Laurent;
- Savale, Laurent;
- Humbert, Marc;
- Sitbon, Olivier;
- Montani, David
Publication type:
Article
uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.
Published in:
NPJ Genomic Medicine, 2023, v. 8, n. 1, p. 1, doi. 10.1038/s41525-023-00378-5
By:
- Soukarieh, Omar;
- Tillet, Emmanuelle;
- Proust, Carole;
- Dupont, Charlène;
- Jaspard-Vinassa, Béatrice;
- Soubrier, Florent;
- Goyenvalle, Aurélie;
- Eyries, Mélanie;
- Trégouët, David-Alexandre
Publication type:
Article
Higher prevalence of splenic artery aneurysms in hereditary hemorrhagic telangiectasia: Vascular implications and risk factors.
Published in:
PLoS ONE, 2020, v. 15, n. 1, p. 1, doi. 10.1371/journal.pone.0226681
By:
- Sellier, Jacques;
- Karam, Carma;
- Beauchet, Alain;
- Dallongeville, Axel;
- Binsse, Stephen;
- Blivet, Sandra;
- Bourgault-Villada, Isabelle;
- Charron, Philippe;
- Chinet, Thierry;
- Eyries, Mélanie;
- Fagnou, Carole;
- Lesniak, Jérome;
- Lesur, Gilles;
- Lucas, Jérome;
- Nicod-Tran, Agnès;
- Ozanne, Augustin;
- Palmyre, Aurélien;
- Soubrier, Florent;
- El Hajjam, Mostafa;
- Lacombe, Pascal
Publication type:
Article
EIF2AK4 mutations cause pulmonary veno-occlusive disease, a recessive form of pulmonary hypertension.
Published in:
Nature Genetics, 2014, v. 46, n. 1, p. 65, doi. 10.1038/ng.2844
By:
- Eyries, Mélanie;
- Montani, David;
- Girerd, Barbara;
- Perret, Claire;
- Leroy, Anne;
- Lonjou, Christine;
- Chelghoum, Nadjim;
- Coulet, Florence;
- Bonnet, Damien;
- Dorfmüller, Peter;
- Fadel, Elie;
- Sitbon, Olivier;
- Simonneau, Gérald;
- Tregouët, David-Alexandre;
- Humbert, Marc;
- Soubrier, Florent
Publication type:
Article
Genome-wide association analysis identifies a susceptibility locus for pulmonary arterial hypertension.
Published in:
Nature Genetics, 2013, v. 45, n. 5, p. 518, doi. 10.1038/ng.2581
By:
- Germain, Marine;
- Eyries, Mélanie;
- Montani, David;
- Poirier, Odette;
- Girerd, Barbara;
- Dorfmüller, Peter;
- Coulet, Florence;
- Nadaud, Sophie;
- Maugenre, Svetlana;
- Guignabert, Christophe;
- Carpentier, Wassila;
- Vonk-Noordegraaf, Anton;
- Lévy, Marilyne;
- Chaouat, Ari;
- Lambert, Jean-Charles;
- Bertrand, Marion;
- Dupuy, Anne-Marie;
- Letenneur, Luc;
- Lathrop, Mark;
- Amouyel, Philippe
Publication type:
Article
Absence of influence of gender and BMPR2mutation type on clinical phenotypes ofpulmonary arterial hypertension.
Published in:
Respiratory Research, 2010, v. 11, p. 73, doi. 10.1186/1465-9921-11-73
By:
- Girerd, Barbara;
- Montani, David;
- Eyries, Mélanie;
- Yaici, Azzedine;
- Sztrymf, Benjamin;
- Coulet, Florence;
- Sitbon, Olivier;
- Simonneau, Gérald;
- Soubrier, Florent;
- Humbert, Marc
Publication type:
Article
Somatic mosaicism and double somatic hits can lead to MSI colorectal tumors.
Published in:
Familial Cancer, 2013, v. 12, n. 1, p. 27, doi. 10.1007/s10689-012-9568-9
By:
- Sourrouille, Isabelle;
- Coulet, Florence;
- Lefevre, Jeremie;
- Colas, Chrystelle;
- Eyries, Mélanie;
- Svrcek, Magali;
- Bardier-Dupas, Armelle;
- Parc, Yann;
- Soubrier, Florent
Publication type:
Article
Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.
Published in:
Human Mutation, 2015, v. 36, n. 12, p. 1113, doi. 10.1002/humu.22904
By:
- Machado, Rajiv D.;
- Southgate, Laura;
- Eichstaedt, Christina A.;
- Aldred, Micheala A.;
- Austin, Eric D.;
- Best, D. Hunter;
- Chung, Wendy K.;
- Benjamin, Nicola;
- Elliott, C. Gregory;
- Eyries, Mélanie;
- Fischer, Christine;
- Gräf, Stefan;
- Hinderhofer, Katrin;
- Humbert, Marc;
- Keiles, Steven B.;
- Loyd, James E.;
- Morrell, Nicholas W.;
- Newman, John H.;
- Soubrier, Florent;
- Trembath, Richard C.
Publication type:
Article
Clinical implications of CTNNA1 germline mutations in asymptomatic carriers.
Published in:
Gastric Cancer, 2019, v. 22, n. 4, p. 899, doi. 10.1007/s10120-018-00907-7
By:
- Benusiglio, Patrick R.;
- Colas, Chrystelle;
- Guillerm, Erell;
- Canard, Axelle;
- Delhomelle, Hélène;
- Warcoin, Mathilde;
- Bellanger, Jérôme;
- Eyries, Mélanie;
- Zizi, Mohamed;
- Netter, Jeanne;
- Soubrier, Florent;
- Parc, Yann;
- Mourregot, Anne;
- Maran Gonzalez, Aurélie;
- Cusin, Veronica;
- Denis, Jérôme A.;
- Coupier, Isabelle;
- Svrcek, Magali;
- Coulet, Florence
Publication type:
Article
Physiological and pathophysiological roles of the KCNK3 potassium channel in the pulmonary circulation and the heart.
Published in:
Journal of Physiology, 2023, v. 601, n. 17, p. 3717, doi. 10.1113/JP284936
By:
- Saint‐Martin Willer, Anaïs;
- Santos‐Gomes, Joana;
- Adão, Rui;
- Brás‐Silva, Carmen;
- Eyries, Mélanie;
- Pérez‐Vizcaino, Francisco;
- Capuano, Véronique;
- Montani, David;
- Antigny, Fabrice
Publication type:
Article
Clinical and genetic characteristics of Chinese patients with hereditary haemorrhagic telangiectasia-associated pulmonary hypertension.
Published in:
European Journal of Clinical Investigation, 2013, v. 43, n. 10, p. 1016, doi. 10.1111/eci.12138
By:
- Chen, Yan‐Jun;
- Yang, Qing‐Hui;
- Liu, Dong;
- Liu, Qian‐Qian;
- Eyries, Mélanie;
- Wen, Liang;
- Wu, Wen‐Hui;
- Jiang, Xin;
- Yuan, Ping;
- Zhang, Rui;
- Soubrier, Florent;
- Jing, Zhi‐Cheng
Publication type:
Article
Small platelet microparticle levels are increased in pulmonary arterial hypertension.
Published in:
European Journal of Clinical Investigation, 2013, v. 43, n. 1, p. 64, doi. 10.1111/eci.12018
By:
- Nadaud, Sophie;
- Poirier, Odette;
- Girerd, Barbara;
- Blanc, Catherine;
- Montani, David;
- Eyries, Mélanie;
- Imbert‐Bismut, Françoise;
- Pacheco, Antoine;
- Vigne, Jacques;
- Tregouet, David‐Alexandre;
- Humbert, Marc;
- Soubrier, Florent
Publication type:
Article
A CELSR1 variant in a patient with pulmonary arterial hypertension.
Published in:
Clinical Genetics, 2021, v. 100, n. 6, p. 771, doi. 10.1111/cge.14046
By:
- Eyries, Mélanie;
- Girerd, Barbara;
- Savale, Laurent;
- Soubrier, Florent;
- Humbert, Marc;
- Montani, David
Publication type:
Article
Parkes‐Weber syndrome related to RASA1 mosaic mutation.
Published in:
Clinical Genetics, 2021, v. 99, n. 2, p. 330, doi. 10.1111/cge.13860
By:
- Boccara, Olivia;
- Eyries, Mélanie;
- Pannier, Stéphanie;
- Ariche‐Maman, Sonia;
- Hadj‐Rabia, Smail;
- Coulet, Florence
Publication type:
Article

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