A method to estimate surface mass-balance in glacier accumulation areas based on digital elevation models and submergence velocities

Autor: Bruno Jourdain, Christian Vincent, Marion Réveillet, Antoine Rabatel, Fanny Brun, Delphine Six, Olivier Laarman, Luc Piard, Patrick Ginot, Olivier Sanchez, Etienne Berthier

Publikováno v: Journal of Glaciology, Vol 69, Pp 1403-1418 (2023)

Measuring surface mass-balance in the accumulation areas of glaciers is challenging because of the high spatial variability of snow accumulation and the difficulty of conducting annual field glaciological measurements. Here, we propose a method that

Externí odkaz: https://doaj.org/article/368220bcbada466bac47792e644258c1

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

Autor: Sabbagh, Quentin, Haghshenas, Sadegheh, Piard, Juliette, Trouvé, Chloé, Amiel, Jeanne, Attié-Bitach, Tania, Balci, Tugce, Barat-Houari, Mouna, Belonis, Alyce, Boute, Odile, Brightman, Diana S., Bruel, Ange-Line, Caraffi, Stefano Giuseppe, Chatron, Nicolas, Collet, Corinne, Dufour, William, Edery, Patrick, Fong, Chin-To, Fusco, Carlo, Gatinois, Vincent, Gouy, Evan, Guerrot, Anne-Marie, Heide, Solveig, Joshi, Aakash, Karp, Natalya, Keren, Boris, Lesieur-Sebellin, Marion, Levy, Jonathan, Levy, Michael A., Lozano, Claire, Lyonnet, Stanislas, Margot, Henri, Marzin, Pauline, McConkey, Haley, Michaud, Vincent, Nicolas, Gaël, Nizard, Mevyn, Paulet, Alix, Peluso, Francesca, Pernin, Vincent, Perrin, Laurence, Philippe, Christophe, Prasad, Chitra, Prasad, Madhavi, Relator, Raissa, Rio, Marlène, Rondeau, Sophie, Ruault, Valentin, Ruiz-Pallares, Nathalie, Sanchez, Elodie, Shears, Debbie, Siu, Victoria Mok, Sorlin, Arthur, Tedder, Matthew, Tharreau, Mylène, Mau-Them, Frédéric Tran, van der Laan, Liselot, Van Gils, Julien, Verloes, Alain, Whalen, Sandra, Willems, Marjolaine, Yauy, Kévin, Zuntini, Roberta, Kerkhof, Jennifer, Sadikovic, Bekim, Geneviève, David

Publikováno v: In Genetics in Medicine January 2024 26(1)

Effect of weight-adjusted intermediate-dose versus fixed-dose prophylactic anticoagulation with low-molecular-weight heparin on venous thromboembolism among noncritically and critically ill patients with COVID-19: the COVI-DOSE trial, a multicenter, randomised, open-label, phase 4 trial

Autor: Zuily, Stéphane, Couturaud, Francis, Goehringer, François, Laporte, Silvy, Mismetti, Patrick, Presles, Emilie, Rossignol, Patrick, Thilly, Nathalie, Wahl, Denis, Lecompte, Thomas, Oger, Emmanuel, Sevestre, Marie-Antoinette, Parent, Florence, Benhamou, Ygal, Roy, Pierre-Marie, Gigante, Tristan, Gilg, Morgane, Maclot, Pierre-Luc, Rossignol, Bénédicte, Udot, Jonathan, Bouteille, Hélène, Buchmuller, Andréa, Peurière, Céline, Siaghy, El Mehdi, Bouaziz, Valérie, Daguin, Charlotte, Grosjean, Benjamin, Saunier, Véronique, Verger, Laurence, Jacquot, Madlyne, Petitpain, Nadine, Charly, Martin, Tordella, Laurent, Baronnet, Guillaume, Baux, Elisabeth, Benetos, Athanase, Blanvillain, Jean-Baptiste, Conrad, Marie, Courte, Guilhem, Cravoisy-Popovic, Aurélie, Dufrost, Virginie, Gibot, Sébastien, Guerci, Philippe, Joly, Laure, Kimmoun, Antoine, Koszutski, Matthieu, Larue, Alexandrine, Levy, Bruno, Losser, Marie-Reine, Mattei, Mathieu, Nace, Lionel, Novy, Emmanuel, Perez, Pierre, Pertek, Jean-Pierre, Rigaux, Camille, Sauvage, Alexis, Schvoerer, Evelyne, Thivilier, Carine, Volkov, Lev, Zieminski, Piotr, Benlounes, Manil, Cheng, Charles, Fréminville, Jean-Baptiste de, Détriché, Grégoire, Flammarion, Emmanuel, Goudot, Guillaume, Hamdan, Amer, Hindré, Raphaël, Manoli, Corina, Messas, Emmanuel, Michon, Adrien, Mirault, Tristan, Pastré, Jean, Penet, Marie-Aude, Planquette, Benjamin, Volle, Geoffroy, Hamdan, Rémy, Laubriet-Jazayeri, Aline, Petit, Vincent, Piroth, Lionel, Quenot, Jean Pierre, Saccu, Mélissa, Barraud, Damien, Cavalli, Zoé, Gaci, Rostane, Andreu, Mathilde, Bertoletti, Laurent, De Magalhaes, Elodie, Bulifon, Sophie, Boucly, Athénaïs, Ebstein, Nathan, Humbert, Marc, Jaïs, Xavier, Jevnikar, Mitja, Savale, Laurent, Seferian, Andrei Horia, Colin, Charlotte, Ganem, Timothée, Roumila, Mehdi, Chopard, Romain, Besutti, Matthieu, Mouhat, Basile, Andrejak, Claire, Dupas, Stéphane, Le Roy, Gaëlle, Samy-Modeliar, Santhi, Coste, Anne, Fauche, Alexandre, Goetghebeur, David, Gut-Gobert, Christophe, Hoffmann, Clément, Hourmant, Baptiste, L'hévéder, Cécile, Lemoigne, Emmanuelle, Nepveu, Olivier, Paret, Raphaël, Picart, Gaël, Azerkan, Saïd, Boudaa, Chadia, Campagne, Julien, Eszto, Peter, Godbert, Benoît, Guichard, Jean-François, Heschung, Marion, Legoff, Antoine, Mariot, Jacques, Martin, Pascale, Mercy, Magalie, Perrin, Julie, Raymond, Stéphane, Vernier, Nathalie, Fesler, Pierre, Henneton, Pierrick, Mercuzot, Cédric, Pansu, Nathalie, Perez, Lucas, Andre, Loïc, Bakhache, Edgar, Chopin, Marie-Charlotte, Gilbert, Marie, Lambert, Marc, Pokeerbux, Mohammad Ryadh, Danion, François, Hansmann, Yves, Rougier, Estelle, Ruch, Yvon, Stéphan, Dominique, Ursenbach, Axel, Connerade, Isabelle, Gravier, Simon, Kayser, Damien, Michel, Jean-Marc, Mohseni, Mahsa, Younes, Waël, Burlacu, Ruxandra, Lopes, Amanda, Mouly, Stéphane, Nassarmadji, Kladoum, Sène, Damien, Siguret, Virginie, Stepanian, Alain, Annweiler, Cédric, Brangier, Antoine, Dubee, Vincent, Henni, Samir, Hersant, Jeanne, Loison, Jocelyne, Kern, Léa, Laine, Jean-Baptiste, Neveux-Brecheteau, Claire, Perez, Lucia, Benainous, Ruben, Giroux-Leprieur, Bénédicte, Lopez-Sublet, Marilucy, Khaled-Jousselin, Saïda, Bernard, Yohann, Amiot, Amélie, Breistroff, Jessica, Detry, Emilie, Diallo, Kadidiatou, Didier, Agnès, Dumont, Nathalie, Egensperger, Julie, Emmerich, Aurélie, François, Nelly, Gallo, Fanny, George, Valérie, Gérome, Quentin, Gutehrle, Aurélie, Lehman, Laure, Petit, Séverine, Piard, Vanessa, Saint-Gilles, Maximilien, Terenzi, Olivier, Marquette, Amélie, Mortelette, Hélène, Audry, Mathilde, Cransac, Amélie, Maillard, Marine, Boyer, Anaïs, Gallo, Floriana, Urbing, Arielle, Zahaf, Imane, Byczko, Alexandra, Chaalal, Amina, Berlier, Georgette, Bernabe, Corinne, Bezzeghoud, Souad, Chaudier, Caroline, Chauvet, Carole, Davier, Marina, Labruyere, Carine, Perrin, Estelle, Pierre, Michaël, Chekirine, Claire-Annissa, Voivret, Florence, Meftali, Ramdane, Sabri, Ouaffa, Beulaygue, Anaïs, Gall, Julie, Girard, Laure, Haddaoui, Soumia, Rami, Scheherazade, Couderc, Auriane, Le Breton, Aude, Perruche, Marie-Line, Claudon, Cindy, Roussel, Ludivine, Barnier, Aude, Blanchard, Tiphaine, Le Gall, Bénédicte, Pelouin, Mélanie, Veillon, Anne-Sophie, Aquereburu, Quam, Delaygue, Charlène, Ait Idir, Zahoua, Drugeon, Jérémy, Dubrulle, Déborah, Tezkratt, Rabah, Frantz, Anne-Sophie, Drouaine, Julie, Dubois, Jacqueline, Eyriey, Magali, Haerrel, Elina, Beaudenon, Mélinda, Guenet, Mialy, Lecerf, Thibaud, Marechal-Girault, Stéphanie, Rehaiem, Sami, Simon, Romain, Dangeul-Potier, Florence, Goulvent, Morgane, Fliss, Souha, Messani, Fadhila, Mizejewski, Béatrice, Mugnier, Brigitte, Opderbeck, Valérie, Risse, Brigitte, Lefèvre, Benjamin, Sanchez, Olivier, Empis de Vendin, Ombeline, de Ciancio, Guillaume, Arlet, Jean-Benoît, Khider, Lina, Terriat, Béatrice, Greigert, Hélène, Robert, Céline S., Louis, Guillaume, Trinh-Duc, Albert, Rispal, Patrick, Accassat, Sandrine, Thiery, Guillaume, Montani, David, Azarian, Réza, Meneveau, Nicolas, Soudet, Simon, Le Mao, Raphaël, Maurier, François, Le Moing, Vincent, Quéré, Isabelle, Yelnik, Cécile M., Lefebvre, Nicolas, Martinot, Martin, Delrue, Maxime

Publikováno v: In eClinicalMedicine June 2023 60

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

Autor: Elsa Leitão, Christopher Schröder, Ilaria Parenti, Carine Dalle, Agnès Rastetter, Theresa Kühnel, Alma Kuechler, Sabine Kaya, Bénédicte Gérard, Elise Schaefer, Caroline Nava, Nathalie Drouot, Camille Engel, Juliette Piard, Bénédicte Duban-Bedu, Laurent Villard, Alexander P. A. Stegmann, Els K. Vanhoutte, Job A. J. Verdonschot, Frank J. Kaiser, Frédéric Tran Mau-Them, Marcello Scala, Pasquale Striano, Suzanna G. M. Frints, Emanuela Argilli, Elliott H. Sherr, Fikret Elder, Julien Buratti, Boris Keren, Cyril Mignot, Delphine Héron, Jean-Louis Mandel, Jozef Gecz, Vera M. Kalscheuer, Bernhard Horsthemke, Amélie Piton, Christel Depienne

Publikováno v: Nature Communications, Vol 13, Iss 1, Pp 1-17 (2022)

Discovering disease genes on the X chromosome can be particularly challenging. Here, the authors use features of known disease genes and machine learning to predict genes that remain to be associated with disorders on this chromosome.

Externí odkaz: https://doaj.org/article/bbc1baaa0cad458284efc798bb89f556

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

Autor: Agnes Bloch-Zupan, Tristan Rey, Alexandra Jimenez-Armijo, Marzena Kawczynski, Naji Kharouf, O-Rare consortium, Muriel de La Dure-Molla, Emmanuelle Noirrit, Magali Hernandez, Clara Joseph-Beaudin, Serena Lopez, Corinne Tardieu, Béatrice Thivichon-Prince, ERN Cranio Consortium, Tatjana Dostalova, Milan Macek, International Consortium, Mustapha El Alloussi, Leila Qebibo, Supawich Morkmued, Patimaporn Pungchanchaikul, Blanca Urzúa Orellana, Marie-Cécile Manière, Bénédicte Gérard, Isaac Maximiliano Bugueno, Virginie Laugel-Haushalter, Yves Alembik, Victorin Ahossi, Isabelle Bailleul-Forestier, Isabelle Blanchet, Ariane Berdal, Marie José Boileau, Nicolas Chassaing, François Clauss, Caroline Delfosse, Anne De-Saint-Martin, Jean-Christophe Dahlet, Bérénice Doray, Jean-Luc Davideau, Tiphaine Davit-Béal, Hélène Dollfus, Jean-Pierre Duprez, Muriel de La Dure Molla, Klauss Dieterich, Dominique Droz, Salima El Chehadeh, Olivier Etienne, Edouard Euvrard, Laurence Faivre, Benjamin Fournier, Elsa Garot, Bruno Grollemund, Nathalie Guffon-Fouilhoux, Mathilde Huckert, Bertand Isidor, Sophie Jung, Didier Lacombe, Alinoe Lavillaurex, Marine Lebrun, Bruno Leheup, Adeline Loing, Sandrine Marlin, Jean-Jacques Morrier, Michèle Muller-Bolla, Sylvie Odent, Marie Paule Gelle, Juliette Piard, Linda Pons, Béatrice Richard, Massimiliano Rossi, Prune Sadones, Elise Schaefer, Jean-Louis Sixou, Sylvie Soskin, Marion Strub, Annick Toutain, Alain Verloes, Frédéric Vaysse, Delphine Wagner

Publikováno v: Frontiers in Physiology, Vol 14 (2023)

Amelogenesis imperfecta (AI) is a heterogeneous group of genetic rare diseases disrupting enamel development (Smith et al., Front Physiol, 2017a, 8, 333). The clinical enamel phenotypes can be described as hypoplastic, hypomineralized or hypomature a

Externí odkaz: https://doaj.org/article/be19745ebc994351a79834498f898534