Bone Morphogenetic Protein-9 Is a Circulating Vascular Quiescence Factor von David, Laurent, Mallet, Christine, Keramidas, Michelle, Lamandé, Noël, Gasc, Jean-Marie, Dupuis-Girod, Sophie, Plauchu, Henri, Feige, Jean-Jacques, Bailly, Sabine

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Effect of celiprolol on prevention of cardiovascular events in vascular Ehlers-Danlos syndrome: a prospective randomised, open, blinded-endpoints trial von Ong, Kim-Thanh, MD, Perdu, Jérôme, MD, De Backer, Julie, MD, Bozec, Erwan, PhD, Collignon, Patrick, MD, Emmerich, Joseph, MD, Fauret, Anne-Laure, MD, Fiessinger, Jean-Noël, MD, Germain, Dominique P, MD, Georgesco, Gabriella, MD, Hulot, Jean-Sebastien, MD, De Paepe, Anne, MD, Plauchu, Henri, MD, Jeunemaitre, Xavier, MD, Laurent, Stéphane, MD, Boutouyrie, Pierre, Dr

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Segmental overgrowth, lipomatosis, arteriovenous malformation and epidermal nevus (SOLAMEN) syndrome is related to mosaic PTEN nullizygosity von Caux, Frédéric, Plauchu, Henri, Chibon, Frédéric, Faivre, Laurence, Fain, Olivier, Vabres, Pierre, Bonnet, Françoise, Selma, Zied Ben, Laroche, Liliane, Gérard, Marion, Longy, Michel

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Genotype-phenotype correlations in hereditary hemorrhagic telangiectasia: data from the French-Italian HHT network von Lesca, Gaëtan, Olivieri, Carla, Burnichon, Nelly, Pagella, Fabio, Carette, Marie-France, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Roume, Joelle, Rabilloud, Muriel, Saurin, Jean-Christophe, Cottin, Vincent, Honnorat, Jerome, Coulet, Florence, Giraud, Sophie, Calender, Alain, Danesino, Cesare, Buscarini, Elisabetta, Plauchu, Henri

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Evaluation of previously nonscreened hereditary hemorrhagic telangiectasia patients shows frequent liver involvement and early cardiac consequences von Gincul, Rodica, Lesca, Gaetan, Gelas‐Dore, Bénédicte, Rollin, Nathalie, Barthelet, Martine, Dupuis‐Girod, Sophie, Pilleul, Franck, Giraud, Sophie, Plauchu, Henri, Saurin, Jean‐Christophe

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High diagnostic and clinical impact of small-bowel capsule endoscopy in patients with hereditary hemorrhagic telangiectasia with overt digestive bleeding and/or severe anemia von Grève, Emilie, MD, Moussata, Driffa, MD, Gaudin, Jean Louis, MD, Lapalus, Marie-Georges, MD, Giraud, Sophie, MD, Dupuis-Girod, Sophie, MD, Calender, Alain, MD, PhD, Plauchu, Henri, MD, PhD, Saurin, Jean-Christophe, MD, PhD

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Hereditary hemorrhagic telangiectasia: evidence for regional founder effects of ACVRL1 mutations in French and Italian patients von Lesca, Gaetan, Genin, Emmanuelle, Blachier, Claire, Olivieri, Carla, Coulet, Florence, Brunet, Guy, Dupuis-Girod, Sophie, Buscarini, Elisabetta, Soubrier, Florent, Calender, Alain, Danesino, Cesare, Giraud, Sophie, Plauchu, Henri

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Long-Term Follow-Up in 12 Children with Pulmonary Arteriovenous Malformations: Confirmation of Hereditary Hemorrhagic Telangiectasia in all Cases von Curie, Aurore, MD, Lesca, Gaëtan, MD, Cottin, Vincent, MD, PhD, Edery, Patrick, MD, PhD, Bellon, Gabriel, MD, PhD, Faughnan, Marie E., MD, MSc, Plauchu, Henri, MD, PhD

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Ultrastructural scoring of skin biopsies for diagnosis of vascular Ehlers–Danlos syndrome von Ong, Kim-Thanh, Plauchu, Henri, Peyrol, Simone, Roux, Elisabeth, Errazuriz, Elisabeth, Van Kien, Philippe Khau, Arbeille, Brigitte, Gaulier, Alain, Georgescou, Gabriela, Collignon, Patrick, Germain, Dominique P., Gaveau, Marie-Noëlle, Perdu, Jérôme, Laurent, Stéphane, Bruneval, Patrick, Boutouyrie, Pierre

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Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome von Kloeckener-Gruissem, Barbara, Neidhardt, John, Magyar, István, Plauchu, Henri, Zech, Jean-Christophe, Morlé, Laurette, Palmer-Smith, Sheila M, MacDonald, Moira J, Nas, Véronique, Fry, Andrew E, Berger, Wolfgang

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Bevacizumab in Patients With Hereditary Hemorrhagic Telangiectasia and Severe Hepatic Vascular Malformations and High Cardiac Output von Dupuis-Girod, Sophie, Ginon, Isabelle, Saurin, Jean-Christophe, Marion, Denis, Guillot, Elsa, Decullier, Evelyne, Roux, Adeline, Carette, Marie-France, Gilbert-Dussardier, Brigitte, Hatron, Pierre-Yves, Lacombe, Pascal, Lorcerie, Bernard, Rivière, Sophie, Corre, Romain, Giraud, Sophie, Bailly, Sabine, Paintaud, Gilles, Ternant, David, Valette, Pierre-Jean, Plauchu, Henri, Faure, Frédéric

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High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome von Bubien, Virginie, Bonnet, Françoise, Brouste, Veronique, Hoppe, Stéphanie, Barouk-Simonet, Emmanuelle, David, Albert, Edery, Patrick, Bottani, Armand, Layet, Valérie, Caron, Olivier, Gilbert-Dussardier, Brigitte, Delnatte, Capucine, Dugast, Catherine, Fricker, Jean-Pierre, Bonneau, Dominique, Sevenet, Nicolas, Longy, Michel, Caux, Frédéric, Abramowicz, Marc, Bessis, Didier, Bieth, Eric, Bérard, Valérie Bonadonaon, Bonnetblanc, Jean-Marie, Demange, Liliane, Feillet, François, Frebourg, Thierry, Giraud, Sophie, Giurgea, Irina, Heron, Delphine, Holder, Muriel, Journel, Hubert, Julia, Sophie, Kacem, Maha, Lejeune, Sophie, Leprat, Frédéric, Leroux, Dominique, Lok, Catherine, Lortholary, Alain, Lyonnet, Stanislas, Margueritte, Geneviève, Mauillon, Jacques, Mazereeuw-Hautier, Juliette, Odent, Sylvie, Penet, Clotilde, Philippe, Anne, Plauchu, Henri, Plessismenceau, Ghislaine, Plouvieron, Emmanuel, Richard, Marie-Aleth, Saadi, Abdelkrim, Saurin, Jean-Christophe, Tinat, Julie, Vabres, Pierre, Van Maldergemteil, Lionel, Vennin, Philippe, Weiller, Pierre-Jean

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Bronchiectasis in two pediatric patients with Rothmund–Thomson syndrome von REIX, PHILIPPE, DERELLE, JOCELYNE, LEVREY‐HADDEN, HELENE, PLAUCHU, HENRI, BELLON, GABRIEL

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Recurrence of Hereditary Hemorrhagic Telangiectasia After Liver Transplantation: Clinical Implications and Physiopathological Insights von Dumortier, Jérôme, Dupuis‐Girod, Sophie, Valette, Pierre‐Jean, Valent, Alexander, Guillaud, Olivier, Saurin, Jean‐Christophe, Hervieu, Valérie, Robinson, Philip, Plauchu, Henri, Paliard, Pierre, Boillot, Olivier, Scoazec, Jean‐Yves

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Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders von Attias, David, Stheneur, Chantal, Roy, Carine, Collod-Béroud, Gwenaëlle, Detaint, Delphine, Faivre, Laurence, Delrue, Marie-Ange, Cohen, Laurence, Francannet, Christine, Béroud, Christophe, Claustres, Mireille, Iserin, Franck, Khau Van Kien, Philippe, Lacombe, Didier, Le Merrer, Martine, Lyonnet, Stanislas, Odent, Sylvie, Plauchu, Henri, Rio, Marlène, Rossi, Annick, Sidi, Daniel, Steg, Philippe Gabriel, Ravaud, Philippe, Boileau, Catherine, Jondeau, Guillaume

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POLD1 Germline Mutations in Patients Initially Diagnosed with Werner Syndrome von Lessel, Davor, Hisama, Fuki M., Szakszon, Katalin, Saha, Bidisha, Sanjuanelo, Alexander Barrios, Salbert, Bonnie A., Steele, Pamela D., Baldwin, Jennifer, Brown, W. Ted, Piussan, Charles, Plauchu, Henri, Szilvássy, Judit, Horkay, Edit, Högel, Josef, Martin, George M., Herr, Alan J., Oshima, Junko, Kubisch, Christian

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Cardiovascular manifestations in men and women carrying a FBN1 mutation von Détaint, Delphine, Faivre, Laurence, Collod-Beroud, Gwenaelle, Child, Anne H., Loeys, Bart L., Binquet, Christine, Gautier, Elodie, Arbustini, Eloisa, Mayer, Karin, Arslan-Kirchner, Mine, Stheneur, Chantal, Halliday, Dorothy, Beroud, Christophe, Bonithon-Kopp, Claire, Claustres, Mireille, Plauchu, Henri, Robinson, Peter N., Kiotsekoglou, Anatoli, De Backer, Julie, Adès, Lesley, Francke, Uta, De Paepe, Anne, Boileau, Catherine, Jondeau, Guillaume

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Effect of Mutation Type and Location on Clinical Outcome in 1,013 Probands with Marfan Syndrome or Related Phenotypes and FBN1 Mutations: An International Study von Faivre, L., Collod-Beroud, G., Loeys, B.L., Child, A., Binquet, C., Gautier, E., Callewaert, B., Arbustini, E., Mayer, K., Arslan-Kirchner, M., Kiotsekoglou, A., Comeglio, P., Marziliano, N., Dietz, H.C., Halliday, D., Beroud, C., Bonithon-Kopp, C., Claustres, M., Muti, C., Plauchu, H., Robinson, P.N., Adès, L.C., Biggin, A., Benetts, B., Brett, M., Holman, K.J., De Backer, J., Coucke, P., Francke, U., De Paepe, A., Jondeau, G., Boileau, C.

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Pulmonary Arteriovenous Malformations in Patients with Hereditary Hemorrhagic Telangiectasia von Cottin, Vincent, Plauchu, Henri, Bayle, Jean-Yves, Barthelet, Martine, Revel, Didier, Cordier, Jean-Francois

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Pulmonary Arteriovenous Malformations in Hereditary Hemorrhagic Telangiectasia: A Series of 126 Patients von Cottin, Vincent, Chinet, Thierry, Lavolé, Armelle, Corre, Romain, Marchand, Eric, Reynaud-Gaubert, Martine, Plauchu, Henri, Cordier, Jean-François

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