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196 results on '"Bloch-Zupan, Agnès"'

1. Detection Transformer for Teeth Detection, Segmentation, and Numbering in Oral Rare Diseases: Focus on Data Augmentation and Inpainting Techniques

Author

Kadi, Hocine, Sourget, Théo, Kawczynski, Marzena, Bendjama, Sara, Grollemund, Bruno, and Bloch-Zupan, Agnès

Subjects
Computer Science - Computer Vision and Pattern Recognition
Abstract

In this work, we focused on deep learning image processing in the context of oral rare diseases, which pose challenges due to limited data availability. A crucial step involves teeth detection, segmentation and numbering in panoramic radiographs. To this end, we used a dataset consisting of 156 panoramic radiographs from individuals with rare oral diseases and labeled by experts. We trained the Detection Transformer (DETR) neural network for teeth detection, segmentation, and numbering the 52 teeth classes. In addition, we used data augmentation techniques, including geometric transformations. Finally, we generated new panoramic images using inpainting techniques with stable diffusion, by removing teeth from a panoramic radiograph and integrating teeth into it. The results showed a mAP exceeding 0,69 for DETR without data augmentation. The mAP was improved to 0,82 when data augmentation techniques are used. Furthermore, we observed promising performances when using new panoramic radiographs generated with inpainting technique, with mAP of 0,76.

Published
2024
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4. PFMG2025–integrating genomic medicine into the national healthcare system in France

Author

Abadie, Caroline, Abderrahmane, Aldja, Abdous, Ouarda, Abel, Carine, Ackermann, Oanez, Acquaviva, Cécile, Ader, Flavie, Adham, Salma, Adjaoud, Dalila, Afenjar, Alexandra, Aladjidi, Nathalie, Alary, Anne-Sophie, Albarel, Frédérique, Albert, Sabrina, Allard, Lise, Allix, Ingrid, Alunni, Violaine, Amado, Inês F., Amouroux, Cyril, André, Nicolas, Angelini, Chloé, Anheim, Mathieu, Sanfelliz, Ignacio Antolin, Aparicio, Thomas, Arfeuille, Chloé, Arlet, Jean-Benoît, Arnaud, Lionel, Arnaud, Pauline, Arnold, Guilhem, Attie-Bitach, Tania, Aubert-Mucca, Marion, Audo, Isabelle, Audrezet, Marie-Pierre, Auroux, Maxime, Auzanneau, Céline, Ayrignac, Xavier, Ba, Ibrahima, Bachelot, Anne, Bacq, Delphine, Bacrot, Séverine, Bader-Meunier, Brigitte, Baer, Sarah, Baert-Desurmont, Stéphanie, Bal-Theoleyre, Laurence, Balogoun, Ralyath, Baltzinger, Philippe, Banneau, Guillaume, Bar, Claire, Barbet, Audrey, Barcia, Giulia, Barjhoux, Laure, Barlier, Anne, Barlogis, Vincent, Barritault, Marc, Barth, Magalie, Barthod-Malat, Aurore, Baudouin-Cornu, Peggy, Baujat, Geneviève, Baurand, Amandine, Bay, Jacques-Olivier, Beau-Faller, Michèle, Beaudoin, Jean-Christophe, Bellance, Rémi, Bellanné-Chantelot, Christine, Bellera, Carine, Belot, Alexandre, Ben Abdeljelil, Raihane, Ben Sghaier, Rihab, Benadiba, Joy, Benard, Stéphanie, Beneteau, Claire, Benistan, Karelle, Benkerdou, Fouzia, Benkirane, Mehdi, Benoist, Jean-François, Benusiglio, Patrick R., Bergès, Camille, Bergougnoux, Anne, Bernadach, Maureen, Bernard, Emilien, Bernard, Valérie, Bernard, Virginie, Beroug, Dounia, Berrard, Aurélie, Bertherat, Jérôme, Berthet, Pascaline, Berthier, Clotilde, Bertholet-Thomas, Aurélia, Bertocchio, Jean-Philippe, Bertucci, François, Besse, Céline, Besse-Pinot, Elsa, Bessis, Didier, Beuvain, Pauline, Bezieau, Stéphane, Bidart, Marie, Bièche, Ivan, Biehler, Margaux, Bienvenu, Thierry, Bilan, Frédéric, Billon, Clarisse, Binquet, Christine, Bismuth, Elise, Bizaoui, Varoona, Blanc, Pierre, Blanché, Hélène, Blay, Jean-Yves, Bloch, Adrien, Bloch, Gilles, Bloch-Zupan, Agnes, Bocquet, Béatrice, Boedec, Morgane, Boileau, Catherine, Boissinot, Maureen, Boland, Anne, Bolze, Pierre-Adrien, Bonadona, Valérie, Bonastre, Julia, Bonello-Palot, Nathalie, Bonnard, Adeline-Alice, Borie, Raphaël, Botsen, Damien, Bouattour, Mohamed, Bouctot, Marion, Bouhours-Nouet, Natacha, Bouligand, Jérôme, Bouras, Ahmed, Bourgeron, Thomas, Bourges, Jean-Louis, Bourrat, Emmanuelle, Boursier, Guilaine, Bousquet, Guilhem, Bousquet, Philippe-Jean, Boussion, Simon, Boutaud, Lucile, Boutin, Julian, Bouvagnet, Patrice, Bouvattier, Claire, Boyault, Sandrine, Brac de la Perriere, Aude, Brahmi, Mehdi, Brard, Valentine, Brasseur, Mathilde, Brazzalotto, Nadège, Brémond-Gignac, Dominique, Briand-Suleau, Audrey, Briet, Claire, Bringuier, Pierre-Paul, Bris, Céline, Brischoux-Boucher, Elise, Brochard, Karine, Broly, Martin, Brosseau, Laura, Bruel, Ange-Line, Brunelle, Perrine, Bubien, Virginie, Buecher, Bruno, Buffet, Alexandre, Buisson, Adrien, Burglen, Lydie, Des Roziers, Cyril Burin, Burnichon, Nelly, Busa, Tiffany, Cabart, Mathilde, Cabet, Sara, Caille-Benigni, Charlotte, Caillot, Claire, Calvin, Christophe, Cambon-Thomsen, Anne, Cances, Claude, Cantan, Alexandre, Carausu, Liana, Carbasse, Aurélia, Carbonneil, Cédric, Cariou, Bertrand, Caron, Olivier, Carras, Sylvain, Cartalat, Stéphanie, Cassinari, Kévin, Castelle, Martin, Castéra, Laurent, Castinetti, Frédéric, Catteau, Julie, Caumes, Roseline, Caux, Aurélien, Cavaillé, Mathias, Cavé, Hélène, Caye-Eude, Aurélie, Cazeneuve, Cécile, Celse, Tristan, Celton, Noémie, Cenni, Camille, Cévost, Jasmin, Chaabna, Rania, Chabrol, Brigitte, Challet, Ilyas, Chalumeau, Clélia, Chambon, Pascal, Chansavang, Albain, Chanson, Jean-Baptiste, Chapelant, Sébastien, Charbit-Henrion, Fabienne, Charles, Perrine, Charrière, Sybil, Charron, Philippe, Chassaing, Nicolas, Chatron, Nicolas, Chaumette, Boris, Chaussain, Catherine, Chaussenot, Annabelle, Cheillan, David, Chenavier, Olivier, Chesneau, Bertrand, Chevalier, Louise-Marie, Chomienne, Christine, Chougnet, Cécile, Christin-Maitre, Sophie, Chuet, Marine, Clappier, Emmanuelle, Clet, Johanna, Cloteau, Mélanie, Cluzeau, Thomas, Cogan, Guillaume, Cogné, Benjamin, Cohen, Alicia, Cohen, Camille, Cohen-Haguenauer, Odile, Cohen-Solal, Martine, Colas, Chrystelle, Colin, Estelle, Collet, Corinne, Collin-Chavagnac, Delphine, Colliou, Eloïse, Collonge-Rame, Marie-Agnès, Colmard, Maxime, Coopman, Stéphanie, Coppin, Lucie, Coquan, Elodie, Cormier-Daire, Valérie, Corradini, Nadège, Corsini, Carole, Cossée, Mireille, Coste, Thibault, Cotteret, Sophie, Cottet, Rachel, Coubes, Christine, Coulet, Florence, Couque, Nathalie, Couratier, Philippe, Courbebaisse, Marie, Courbette, Olivier, Courdier, Cécile, Coursimault, Juliette, Courtin, Thomas, Courtois, Lucien, Coury, Fabienne, Coutos-Thévenot, Laure, Coutton, Charles, Creveaux, Isabelle, Crickx, Etienne, Crivelli, Louise, Cuggia, Marc, Cuisset, Laurence, Curcio, Hubert, Curie, Aurore, Cusin, Veronica, Da Costa, Noémie, Da Cruz, Lionel, Dahlen, Eric, Dardenne, Antoine, Dauriat, Benjamin, Dausse, Nell, De Becdelièvre, Alix, De Fraipont, Florence, De La Cruz, Elisa, De la Motte Rouge, Thibault, De Montgolfier, Sandrine, De Pauw, Antoine, De Reyniès, Aurélien, De Sainte Agathe, Jean-Madeleine, De Tayrac, Marie, Defachelles, Anne-Sophie, Degaud, Michaël, Deiller, Caroline, Delabesse, Eric, Delachaux, Leslie, Delahaye-Duriez, Andrée, Deleuze, Jean-François, Delhomelle, Hélène, Delmas, Christelle, Delnatte, Capucine, Delorme, Catherine, Delorme, Richard, Demeer, Bénédicte, Demilly, Caroline, Denizeau, Philippe, Denjoy, Isabelle, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Derive, Nicolas, Dervillé, Flora, Portes, Vincent Des, Desguerre, Isabelle, Desnous, Béatrice, Desseignes, Camille, Devillard, Françoise, Deville, Manjula, Dewulf-Pasz, Nelly, Dhaenens, Claire-Marie, Dietrich, Klaus, Dieux, Anne, Diop, Mody, Disse, Emmanuel, Djaber, Samir, Cao, Christine Do, Dollfus, Hélène, Domenach, Louis, Donadieu, Jean, Donadille, Bruno, Dougé, Aurore, Dreyfus, Hélène, Drunat, Séverine, Dubois-Laforgue, Danièle, Dubourg, Christele, Dubucs, Charlotte, Dubus, Jean-Christophe, Duchmann, Matthieu, Ducray, François, Ducrotverdun, Marion, Duffaud, Florence, Duffourd, Yannis, Dufour, William, Duhil de Bénazé, Gwénaelle, Dulac, Yves, Dunand, Olivier, Dunoyer de Segonzac, Denis, Dupain, Célia, Duployez, Nicolas, Dupré, Anaïs, Dupré, Aurélien, Dupuis-Girod, Sophie, Duquet, Romain, Durand, Alice, Durand, Benjamin, Durand-Zaleski, Isabelle, Durando, Xavier, Durr, Alexandra, Eberst, Lauriane, Edery, Patrick, Egloff, Matthieu, El Chehadeh, Salima, El Khattabi, Laïla, Engel, Camille, Entresangle, Mathilde, Espérou, Hélène, Esselin, Florence, Etancelin, Pascaline, Evrevin, Clémence, Ewenczyk, Claire, Eychene, Alain, Eychenne, Thomas, Ezaru, Andra, Fabry, Vincent, Faivre, Laurence, Faoucher, Marie, Faure, Clémentine, Fauré, Julien, Fauret-Amsellem, Anne-Laure, Feigerlova, Eva, Feillet, François, Fenwarth, Laurène, Férec, Claude, Fergelot, Patricia, Ferrari, Anthony, Ferraro-Peyret, Carole, Feugeas, Jean-Paul, Fieschi, Claire, Fievet, Alice, Fila, Marc, Fillatre, Rémi, Filser, Mathilde, Fin, Bertrand, Fiore, Mathieu, Firmin, Nelly, Flandrin-Gresta, Pascale, Flechon, Aude, Fournier, Benjamin, Fragny, Cécile, Francois-Heude, Marie-Céline, Francou, Bruno, Frébourg, Thierry, Fressart, Véronique, Frétigny, Mathilde, Funalot, Benoit, Fusaro, Mathieu, Gaignard, Pauline, Gandjbakhch, Estelle, Ganne, Benjamin, Garde, Aurore, Gatinois, Vincent, Gaucher, Céline, Gaudillat, Léa, Gaulard, Philippe, Gauthier, Lucas, Gay-Bellile, Mathilde, Geneste, Damien, Geneviève, David, Genin, Emmanuelle, Genoux, Sandrine, Geoerger, Birgit, Geoffroy, Véronique, Georget, Mathieu, Gérard, Bénédicte, Gertych, Witold, Halem, Souad Gherbi, Ghorab, Karima, Gille, Romane, Gillet, Charlène, Gillibert-Yvert, Marion, Gilly, Olivier, Gimenez-Roqueplo, Anne-Paule, Giraud, Sophie, Girerd, Barbara, Girodon, François, Glazunova, Olga, Gobert, Delphine, Goizet, Cyril, Gokce-Samar, Zeynep, Golmard, Lisa, Gomez-Roca, Carlos, Gonzales, Emmanuel, Gorce, Magali, Gorenstein, Marie-Clémence, Gorrichon, Kévin, Gottrand, Frédéric, Gouas, Laetitia, Gourdon, Stéphanie, Gourdy, Pierre, Gouronc, Aurélie, Goursaud, Claire, Gousse, Gaëlle, Gouy, Evan, Goze-Martineau, Odile, Gozlan, Diane, Grabli, David, Gras, Margaux, Grelet, Maude, Gressin, Laetitia, Grivel, Nathalie, Grotto, Sarah, Grouthier, Virginie, Grunenwald, Solange, Grunewald, Olivier, Gueguen, Paul, Guérin, Cécile, Guerrot, Anne-Marie, Guey, Stéphanie, Guffon, Nathalie, Guichet, Agnès, Guièze, Romain, Guillaud-Bataille, Marine, Guillemin, Francis, Guillerm, Erell, Guillermin, Yann, Guillet-Pichon, Virginie, Guillou, Isabelle, Guimbaud, Rosine, Guimier, Anne, Guissart, Claire, Guittet, Eric, Guy, Nathalie, Hadchouel, Alice, Abdallah, Hamza Hadj, Hadj-Rabia, Smail, Hadjadj, Samy, Hage-Sleiman, Mehdi, Haioun, Corinne, Halawi, Sara, Hamza, Abderaouf, Hanau, Perrine, Hanna, Nadine, Harbuz, Radu, Hardy, Gaëlle, Hauspie, Carine, Hayette, Sandrine, Heard, Jean-Michel, Heiblig, Maël, Heide, Solveig, Heidet, Laurence, Henry, Marcia, Hentgen, Véronique, Héron, Bénédicte, Héron, Delphine, Hervé, Dominique, Herzig, Anthony, Hirsch, Pierre, Hommais, Antoine, Honnorat, Jérôme, Horta, Edgar, Houdayer, Claude, Houillier, Pascal, Huet, Sarah, Hugot, Jean-Pierre, Huguenin, Yoann, Humbert, Marc, Humbert-Asensio, Marie-Laure, Huot, Laure, Ifrah, Norbert, Illouz, Frédéric, Imbard, Apolline, Imbert-Bouteille, Marion, Isambert, Nicolas, Isidor, Bertrand, Italiano, Antoine, Itzykson, Raphaël, Jaillard, Sylvie, Jamilloux, Yvan, Janin, Alexandre, Januel, Louis, Javelot-Jacquelin, Cécile, Jeanne, Médéric, Jedraszak, Guillaume, Jéru, Isabelle, Jeunemaitre, Xavier, Jeziorski, Eric, Jobic, Florence, Joly, Philippe, Jonard, Laurence, Jondeau, Guillaume, Jones, Natalie, Jouannic, Jean-Marie, Jouinot, Anne, Jouk, Pierre-Simon, Jourdy, Yohann, Jousselin, Kévin, Jouvenceau, Anne, Jubert, Charlotte, Julia, Sophie, Jurquet, Anne-laure, Juven, Aurélien, Kamal, Maud, Kantapareddy, Pascal, Kaphan, Elsa, Karayan-Tapon, Lucie, Kasper, Edwige, Kerbellec, Lara, Keren, Boris, Khalifa, Emmanuel, Van Kien, Philippe Khau, Kheddouci, Sihem, Kientz, Caroline, Kim, Rathana, Knapke, Antjie, Koenig, Michel, isabelle Kone, Konyukh, Marina, Kormann, Raphaël, Kossorotoff, Manoelle, Kuentz, Paul, Kyndt, Florence, L'Haridon, Anaïs, Labrune, Philippe, Lackmy, Marilyn, Lacombe, Didier, Lacroix, Ludovic, Laffargue, Fanny, Lahlou, Ghizlene, Laizet, Yec'han, Lambert, Laetitia, Lamoril, Jérôme, Lamouroux, Audrey, Landais, Emilie, Landman, Samuel, Landry, Elise, Lapillonne, Hélène, Lapointe, Anne-Sophie, Larcher, Lise, Lardeux, Pierre, Largeaud, Laetitia, Larger, Etienne, Larrouquere, Louis, Lasolle, Hélène, Lasseaux, Eulalie, Latypova, Xenia, Laurens, Tiphany, Laurent, Camille, Laurent-Puig, Pierre, Lautrette, Géraldine, Lauvray, Thomas, Lavallart, Benoît, Lavenu-Bombled, Cécile, Laverdure, Noémie, Le Bris, Yannick, Le Chalony, Catherine, Le Du, Nathalie, Le Folgoc, Gaëlle, Le Gac, Gerald, Le Gall, Jessica, Le Guillou, Edouard, Le Guillou, Xavier, Le Guyader, Gwenaël, Le Ray, Maryannick, Le Saux, Olivia, Le Tourneau, Christophe, Lebecque, Benjamin, Lebellec, Loïc, Lebigot, Elise, Leblond, Pierre, Leboulanger, Nicolas, Lebras, Laure, Lebre, Anne-Sophie, Lebreton, Louis, Lecoquierre, François, Lefebvre, Mathilde, Legendre, Marine, Leglise, Camille, Legrand, Clémentine, Lehalle, Daphné, Lejeune, Catherine, Lemaitre, Christine, Leman, Raphaël, Lepage, Mathis, Lermine, Alban, Leroy, Karen, Lesca, Gaëtan, Lesieur-Sebellin, Marion, Letexier, Mélanie, Lethimonnier, Franck, Levaillant, Lucie, Levy, Jonathan, Levy, Yves, Lévy, Pascale, Lhermitte, Ludovic, Linglart, Agnès, Lionnet, Clément, Livon, Doriane, Lode, Laurence, Lodin, Magalie, Lopez, Jonathan, Lopez, Maureen, Lortholary, Alain, Louha, Malek, Louvrier, Camille, Ludwig, Thomas E., Luvet, Auriane, Lyonnet, Stanislas, Makowski, Caroline, Malan, Valérie, Mallaret, Martial, Mallet, Delphine, Mallet, Stéphanie, Malphettes, Marion, Manaud, Nathalie, Mancini, Pierre, Manfredi, Sylvain, Manouvrier, Sylvie, Mansard, Luke, Mansard, Sandrine, Mansour-Hendili, Lamisse, Mansuy, Ludovic, Maquet, Julien, Marçais, Ambroise, Marceau-Renaut, Alice, Marec-Berard, Perrine, Marelli, Cécilia, Marenne, Gaëlle, Marey, Isabelle, Margier, Jennifer, Margot, Henri, Marie, Guillaume, Marin, Victor, Marisa, Laetitia, Marlin, Sandrine, Marquant, Emeline, Marquet, Valentine, Marsili, Luisa, Martin, Amaury, Martinerie, Laetitia, Maruani, Anna, Marzin, Pauline, Massard, Christophe, Masson, Emmanuelle, Mathieu, Flavie, Mathieu, Marion, Mathoulin-Pelissier, Simone, Matthieu, Flore, Mauras, Mathilde, Maureille, Aurélien, Mazel, Benoit, Mazeres, Mary, Leer, Anne Mc, Melki, Isabelle, Menassa, Rita, Méneret, Aurélie, Menjard, Julie, Mercier, Anne, Merieau, Elodie, Merlin, Marie-Sophie, Merlio, Jean-Philippe, Meslier, Cécile, Mesnard, Laurent, Mestre-Godin, Sandrine, Metay, Corinne, Meunier, Sandrine, Meyer, Pierre, Michaud, Vincent, Michel-Calemard, Laurence, Mignot, Cyril, Miguet, Marguerite, Millat, Gilles, Mirault, Tristan, Miron de l'Espinay, Albane, Molac, Clémence, Molin, Arnaud, Mondet, Julie, Monin, Faustine, Monin, Pauline, Monneur, Audrey, Monnot, Sophie, Montani, David, Morel, Elodie, Morel, Godelieve, Morel, Valérie, Moretta, Jessica, Morice-Picard, Fanny, Morillon, Lucie, Morin, Carole, Morin-Meschin, Marie-Emmanuelle, Morlat, Philippe, Moshous, Despina, Mouret-Fourme, Emmanuelle, Moussy, Alice, Moutton, Sébastien, Mouzat, Kévin, Muletier, Romane, Muller, Jean, Muller, Marie, Nadaj-Pakleza, Aleksandra, Nambot, Sophie, Nathan, Nadia, Nava, Caroline, Nectoux, Juliette, Netter, Jeanne, Neumann, Florent, Neveu, Julien, Nevière, Zoé, Nguyen, Laetitia, Niclass, Tanguy, Nicolas, Gaël, Nicolas, Laury, Ningarhari, Massih, Nogues, Catherine, Novello, Cécile, Nowak, Frédérique, Odent, Sylvie, Odou, Marie-Françoise, Olaso, Robert, Otmani, Sarah, Ovaert, Caroline, Pacot, Laurence, Pages, Mélanie, Paillard, Catherine, Palmyre, Aurélien, Panagiotakaki, Eleni, Pannard, Myriam, Paoletti, Anne, Papadopoulou, Maria T., Papathanasiou, Matthildi, Paquis, Véronique, Parfait, Béatrice, Paris, Camille, Paris, Clara, Paris, Françoise, Pasmant, Eric, Pasquet, Marlène, Passet, Marie, Pastoret, Cédric, Patat, Olivier, Patay, Léa, Paul, Antoine, Pebrel-Richard, Céline, Peduto, Cristina, Peffault de Latour, Regis, Pegat, Antoine, Pelletier, Annick, Pelletier, Valérie, Pellisson, Fanny, Pennamen, Perrine, Pereira, Victor, Pernin-Grandjean, Julie, Péron, Julien, Perrier, Alexandre, Perrier, Lionel, Perrin, Laurence, Perthus, Isabelle, Petit, Arnaud, Petit, Audrey, Petit, Florence, Petit, François, Petrov, Yuliya, Peyre, Hugo, Philippe, Christophe, Piard, Juliette, Pierre-Noël, Elise, Pierron, Gaëlle, Pimouguet, Clément, Pingault, Véronique, Pinson, Stéphane, Pion, Emmanuelle, Plaisancié, Julie, Planes, Marc, Planté-Bordeneuve, Pauline, Plas, William, Plutino, Morgane, Poignie, Ludivine, Poinsignon, Vianney, Poirée, Marilyne, Pons, Nicolas, Pontier, Bénédicte, Porquet-Bordes, Valérie, Porteret, Camille, Potier, Delphine, Potier, Louis, Pouessel, Damien, Poujade, Laura, Preau, Marie, Preudhomme, Claude, Prieur, Fabienne, Probst, Vincent, Procaccio, Vincent, Prot-Bertoye, Caroline, Prunier, Delphine, Puechberty, Jacques, Pujalte, Mathilde, Qebibo, Leila, Quemener-Redon, Sylvia, Quérée, Isabelle, Quijano-Roy, Susana, Quirin, Nicolas, Racine, Caroline, Raimbault, Sandra, Raimbourg, Judith, Rajaoba, Marine, Rambaud, Thomas, Ramirez, Carole, Ramond, Francis, Ranguin, Kara, Rausell, Antonio, Ravel, Jean-Marie, Ravelli, Claudia, Raverot, Gerald, Ray-Coquard, Isabelle, Raynal, Caroline, Réant, Patricia, Rebours, Vinciane, Redon, Richard, Réguerre, Yves, Reix, Philippe, Renard, Cécile, Renaud, Mathilde, Rendu, John, Renoux, Céline, Rey, Romain, Reynaud, Rachel, Rhinan, Lucie, Riant, Florence, Riccardi, Florence, Richard, Pascale, Ricou, Agathe, Rigalleau, Vincent, Rio, Marlène, Rivière, Axelle, Robelin, Patrick, Robert, Marion, Robert, Thomas, Rohmer, Barbara, Romanet, Pauline, Romoli, Arnaud, Rondeau, Sophie, Rooryck, Caroline, Roquelaure, Bertrand, Rosain, Jérémie, Rossi, Massimiliano, Rossignol, Sylvie, Rothenbuhler, Anya, Rouel, Nadège, Rouillon, Marine, Roux, Anne-Francoise, Roux-Buisson, Nathalie, Rouzier, Cécile, Roze, Emmanuel, Ruaud, Lyse, Ruault, Valentin, Ruysschaert, Claire, Saada, Esma, Saadi - Ait El Mkadem, Samira, Saandi, Thoueiba, Sabour, Niki, Sacconi, Sabrina, Saffroy, Raphaël, Safraou, Hana, Saillour, Virginie, Pierre, Aude Saint, Saint-Martin, Cécile, Saintigny, Pierre, Salaun, Gaëlle, Salgado, David, Salle, Laurence, Samuel, Didier, Sanlaville, Damien, Sapey-Triomphe, Laure, Sarnacki, Sabine, Sarrazin, Elisabeth, Sarret, Catherine, Satre, Véronique, Saugier-Veber, Pascale, Saultier, Paul, Saumet, Laure, Schaefer, Elise, Scheyer, Nicolas, Schiff, Isabelle, Schleiermacher, Gudrun, Schleinitz, Nicolas, Schluth-Bolard, Caroline, Schneider, Anouck, Schwartz, Bertrand, Sebaoun, Jean-Marc, Serey-Gaut, Margaux, Serrier, Hassan, Servais, Aude, Serveaux-Dancer, Marine, Sevenet, Nicolas, Seyve, Antoine, Sibony-Cohen, Alicia, Sicre de Fontbrune, Flore, Sigaudy, Sabine, Sigaux, François, Simaga, Fatoumata, Simmet, Victor, Simon, Pauline, Simon, Sophie, Sirveaux, François, Smol, Thomas, Solé, Guilhem, Soler, Gwendoline, Solignac, Pauline, Soriani, Marie-Hélène, Soubeyran, Isabelle, Soulier, Jean, Spelle, Laurent, Sperelakis-Beedham, Brian, Spinazzi, Marco, Spodenkiewicz, Marta, Spraul, Anne, Squiban, Barbara, Srikaran, Arunya, Steffann, Julie, Stetco, Anamaria, Stoeva, Radka, Stojkovic, Tanya, Stoppa-Lyonnet, Dominique, Suarez, Felipe, Sujobert, Pierre, Svahn, Juliette, Ta, Minh-Chau, Tabet, Anne-Claude, Tachon, Gaëlle, Tallegas, Matthias, Tallet, Anne, Tambourin, Pierre-Edmond, Tandonnet, Julie, Tardy, Véronique, Tavernier, Emmanuelle, Tchernitchko, Dimitri, Teillon-Berranger, Marie-Hélène, Tenenbaum, Julie, Teoli, Jordan, Tessarech, Marine, Tessoulin, Benoit, Tharreau, Mylène, Thauvin-Robinet, Christel, Theou-Anton, Nathalie, Thevenon, Julien, Thomas, Anne, Thomas, Laure, Thomas, Quentin, Thomas-Teinturier, Cécile, Tieulie, Nathalie, Tinat, Julie, Tlemsani, Camille, Tondeur, Sylvie, Tosca, Lucie, Tosi, Diego, Tougeron, David, Touraine, Phlippe, Tournier-Lasserve, Elisabeth, Toutain, Annick, Mau-Them, Frédéric Tran, Tranchant, Christine, Trédan, Olivier, Trimouille, Aurélien, Trochu, Jean-Noël, Tronel, Vincent, Trouba, Cécile, Truchetet, Marie-Elise, Truffaux, Nathalène, Tsalamlal, Amel, Turlotte, Edouard, Turon, Violette, Tusseau, Maud, Uhrhammer, Nancy, Vaché, Christel, Valence, Stéphanie, Valentin, Thibaud, Valero, René, Valleix, Sophie, Vallet, Marion, Vanacker, Hélène, Vande-Perre, Pierre, Vandenbrouck, Yves, Vanlerberghe, Clémence, Vargas-Poussou, Rosa, Vatier, Camille, Vauchel, Vincent, Vaur, Dominique, Velo-Suarez, Lourdes, Venat, Laurence, Vera, Gabriella, Verebi, Camille, Verley, Célia, Verlingue, Loïc, Verny, Christophe, Veronese, Lauren, Verotte, Nelly, Verret, Benjamin, Vial, Yoann, Vialard, Francois, Viari, Alain, Vidailhet, Marie, Vidaud, Dominique, Vidaud, Michel, Vignes, Stéphane, Vigouroux, Clothilde, Villard, Laurent, Villeneuve, Laurent, Villié, Patricia, Villy, Marie-Charlotte, Vinauger, Lara, Vinceneux, Armelle, Vincenot, Anne, Vinciguerra, Christine, Vitobello, Antonio, Vourc'h, Patrick, Vozy, Aurore, Vuillaume-Winter, Marie-Laure, Vuillaumier-Barrot, Sandrine, Wahbi, Karim, Wallet, Cédrick, Walter, Thomas, Walther-Louvier, Ulrike, Watson, Sarah, Waymel, Anne-Christine, Weinhard, Sara, Wicker, Camille, Willems, Marjolaine, Wourms, Justine, Wyrebski, Antoine, Yauy, Kévin, Zaidan, Mohamad, Zaloszyc, Ariane, Zattara, Hélène, Zawadzki, Christophe, and Ziegler, Alban

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2025
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8. GenIDA, a participatory patient registry for genetic forms of intellectual disability provides detailed caregiver-reported information on 237 individuals with Koolen-de Vries syndrome

Author

Colin, Florent, Burger, Pauline, Mazzucotelli, Timothée, Strehle, Axelle, Kummeling, Joost, Collot, Nicole, Broly, Elyette, Morgan, Angela T., Myers, Kenneth A., Bloch-Zupan, Agnès, Ockeloen, Charlotte W., de Vries, Bert B.A., Kleefstra, Tjitske, Parrend, Pierre, Koolen, David A., and Mandel, Jean-Louis

Published
2023
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10. Rare dentin defects: Understanding the pathophysiological mechanisms of COLXVA1 mutations

Author

Bugueno, Isaac Maximiliano; https://orcid.org/0000-0002-6994-6262, Rey, Tristan, Jimenez-Armijo, Alexandra, Kawczynski, Marzena, Kharouf, Naji, Manière, Marie-Cécile, Herault, Yann, Bloch-Zupan, Agnès, Haushalter-Laugel, Virginie, Bugueno, Isaac Maximiliano; https://orcid.org/0000-0002-6994-6262, Rey, Tristan, Jimenez-Armijo, Alexandra, Kawczynski, Marzena, Kharouf, Naji, Manière, Marie-Cécile, Herault, Yann, Bloch-Zupan, Agnès, and Haushalter-Laugel, Virginie

Published
2024

11. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Author

MS Oogheelkunde, Child Health, Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C., MS Oogheelkunde, Child Health, Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, and Hennekam, Raoul C.

Published
2024

12. Diagnosis and management in Rubinstein-Taybi syndrome:first international consensus statement

Author

Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C., Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van Der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H.M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elizabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C.M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, and Hennekam, Raoul C.

Abstract

Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.

Published
2024

13. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Author

Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean-Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H. M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elisabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C. M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, Hennekam, Raoul C., Lacombe, Didier, Bloch-Zupan, Agnès, Bredrup, Cecilie, Cooper, Edward B., Houge, Sofia Douzgou, García-Miñaúr, Sixto, Kayserili, Hülya, Larizza, Lidia, Lopez Gonzalez, Vanesa, Menke, Leonie A., Milani, Donatella, Saettini, Francesco, Stevens, Cathy A., Tooke, Lloyd, Van der Zee, Jill A., Van Genderen, Maria M., Van-Gils, Julien, Waite, Jane, Adrien, Jean-Louis, Bartsch, Oliver, Bitoun, Pierre, Bouts, Antonia H. M., Cueto-González, Anna M., Dominguez-Garrido, Elena, Duijkers, Floor A., Fergelot, Patricia, Halstead, Elisabeth, Huisman, Sylvia A., Meossi, Camilla, Mullins, Jo, Nikkel, Sarah M., Oliver, Chris, Prada, Elisabetta, Rei, Alessandra, Riddle, Ilka, Rodriguez-Fonseca, Cristina, Rodríguez Pena, Rebecca, Russell, Janet, Saba, Alicia, Santos-Simarro, Fernando, Simpson, Brittany N., Smith, David F., Stevens, Markus F., Szakszon, Katalin, Taupiac, Emmanuelle, Totaro, Nadia, Valenzuena Palafoll, Irene, Van Der Kaay, Daniëlle C. M., Van Wijk, Michiel P., Vyshka, Klea, Wiley, Susan, and Hennekam, Raoul C.

Abstract

Rubinstein-Taybi syndrome (RTS) is an archetypical genetic syndrome that is characterised by intellectual disability, well-defined facial features, distal limb anomalies and atypical growth, among numerous other signs and symptoms. It is caused by variants in either of two genes (CREBBP, EP300) which encode for the proteins CBP and p300, which both have a function in transcription regulation and histone acetylation. As a group of international experts and national support groups dedicated to the syndrome, we realised that marked heterogeneity currently exists in clinical and molecular diagnostic approaches and care practices in various parts of the world. Here, we outline a series of recommendations that document the consensus of a group of international experts on clinical diagnostic criteria for types of RTS (RTS1: CREBBP; RTS2: EP300), molecular investigations, long-term management of various particular physical and behavioural issues and care planning. The recommendations as presented here will need to be evaluated for improvements to allow for continued optimisation of diagnostics and care.

Published
2024

14. Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Author

Lacombe, Didier, primary, Bloch-Zupan, Agnès, additional, Bredrup, Cecilie, additional, Cooper, Edward B, additional, Houge, Sofia Douzgou, additional, García-Miñaúr, Sixto, additional, Kayserili, Hülya, additional, Larizza, Lidia, additional, Lopez Gonzalez, Vanesa, additional, Menke, Leonie A, additional, Milani, Donatella, additional, Saettini, Francesco, additional, Stevens, Cathy A, additional, Tooke, Lloyd, additional, Van der Zee, Jill A, additional, Van Genderen, Maria M, additional, Van-Gils, Julien, additional, Waite, Jane, additional, Adrien, Jean-Louis, additional, Bartsch, Oliver, additional, Bitoun, Pierre, additional, Bouts, Antonia H M, additional, Cueto-González, Anna M, additional, Dominguez-Garrido, Elena, additional, Duijkers, Floor A, additional, Fergelot, Patricia, additional, Halstead, Elizabeth, additional, Huisman, Sylvia A, additional, Meossi, Camilla, additional, Mullins, Jo, additional, Nikkel, Sarah M, additional, Oliver, Chris, additional, Prada, Elisabetta, additional, Rei, Alessandra, additional, Riddle, Ilka, additional, Rodriguez-Fonseca, Cristina, additional, Rodríguez Pena, Rebecca, additional, Russell, Janet, additional, Saba, Alicia, additional, Santos-Simarro, Fernando, additional, Simpson, Brittany N, additional, Smith, David F, additional, Stevens, Markus F, additional, Szakszon, Katalin, additional, Taupiac, Emmanuelle, additional, Totaro, Nadia, additional, Valenzuena Palafoll, Irene, additional, Van Der Kaay, Daniëlle C M, additional, Van Wijk, Michiel P, additional, Vyshka, Klea, additional, Wiley, Susan, additional, and Hennekam, Raoul C, additional

Published
2024
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16. Biallelic variants in Plexin B2 (PLXNB2) cause amelogenesis imperfecta, hearing loss and intellectual disability.

Author

Smith, Claire E. L., Laugel-Haushalter, Virginie, Hany, Ummey, Best, Sunayna, Taylor, Rachel L., Poulter, James A., Wortmann, Saskia B., Feichtinger, Rene G., Mayr, Johannes A., Al Bahlani, Suhaila, Nikolopoulos, Georgios, Rigby, Alice, Black, Graeme C., Watson, Christopher M., Mansour, Sahar, Inglehearn, Chris F., Mighell, Alan J., and Bloch-Zupan, Agnès

Abstract

Background Plexins are large transmembrane receptors for the semaphorin family of signalling proteins. Semaphorin-plexin signalling controls cellular interactions that are critical during development as well as in adult life stages. Nine plexin genes have been identified in humans, but despite the apparent importance of plexins in development, only biallelic PLXND1 and PLXNA1 variants have so far been associated with Mendelian genetic disease. Methods Eight individuals from six families presented with a recessively inherited variable clinical condition, with core features of amelogenesis imperfecta (AI) and sensorineural hearing loss (SNHL), with variable intellectual disability. Probands were investigated by exome or genome sequencing. Common variants and those unlikely to affect function were excluded. Variants consistent with autosomal recessive inheritance were prioritised. Variant segregation analysis was performed by Sanger sequencing. RNA expression analysis was conducted in C57Bl6 mice. Results Rare biallelic pathogenic variants in plexin B2 (PLXNB2), a large transmembrane semaphorin receptor protein, were found to segregate with disease in all six families. The variants identified include missense, nonsense, splicing changes and a multiexon deletion. Plxnb2 expression was detected in differentiating ameloblasts. Conclusion We identify rare biallelic pathogenic variants in PLXNB2 as a cause of a new autosomal recessive, phenotypically diverse syndrome with AI and SNHL as core features. Intellectual disability, ocular disease, ear developmental abnormalities and lymphoedema were also present in multiple cases. The variable syndromic human phenotype overlaps with that seen in Plxnb2 knockout mice, and, together with the rarity of human PLXNB2 variants, may explain why pathogenic variants in PLXNB2 have not been reported previously. [ABSTRACT FROM AUTHOR]

Published
2024
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22. The Rogdi Knockout Mouse is a Model for Kohlschütter–Tönz Syndrome

Author

Jimenez-Armijo, Alexandra, primary, Morkmued, Supawich, additional, Ahumada, José Tomás, additional, Kharouf, Naji, additional, de Feraudy, Yvan, additional, Gogl, Gergo, additional, Riet, Fabrice, additional, Niederreither, Karen, additional, Laporte, Jocelyn, additional, Birling, Marie Christine, additional, Selloum, Mohammed, additional, Herault, Yann, additional, Hernandez, Magali, additional, and Bloch-Zupan, Agnès, additional

Published
2023
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23. Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement

Author

Rey, Tristan, primary, Tarabeux, Julien, additional, Gerard, Bénédicte, additional, Delbarre, Marion, additional, Le Béchec, Antony, additional, Stoetzel, Corinne, additional, Prasad, Megana, additional, Laugel-Haushalter, Virginie, additional, Kawczynski, Marzena, additional, Muller, Jean, additional, Chelly, Jamel, additional, Dollfus, Hélène, additional, Manière, Marie-Cécile, additional, and Bloch-Zupan, Agnès, additional

Published
2019
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28. SLC13A5 is the second gene associated with Kohlschütter–Tönz syndrome

Author

Schossig, Anna, Bloch-Zupan, Agnès, Lussi, Adrian, Wolf, Nicole I, Raskin, Salmo, Cohen, Monika, Giuliano, Fabienne, Jurgens, Julie, Krabichler, Birgit, Koolen, David A, de Macena Sobreira, Nara Lygia, Maurer, Elisabeth, Muller-Bolla, Michèle, Penzien, Johann, Zschocke, Johannes, Kapferer-Seebacher, Ines, Joseph, Clara, Perelman, Serge, von Hülsen, Elke, de Souza, Cleber, Kohlschütter, Alfried, Tönz, Otmar, and Verhoeven, Judith S

Published
2017
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29. A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

Author

Prasad, Megana K, Geoffroy, Véronique, Vicaire, Serge, Jost, Bernard, Dumas, Michael, Le Gras, Stéphanie, Switala, Marzena, Gasse, Barbara, Laugel-Haushalter, Virginie, Paschaki, Marie, Leheup, Bruno, Droz, Dominique, Dalstein, Amelie, Loing, Adeline, Grollemund, Bruno, Muller-Bolla, Michèle, Lopez-Cazaux, Séréna, Minoux, Maryline, Jung, Sophie, Obry, Frédéric, Vogt, Vincent, Davideau, Jean-Luc, Davit-Beal, Tiphaine, Kaiser, Anne-Sophie, Moog, Ute, Richard, Béatrice, Morrier, Jean-Jacques, Duprez, Jean-Pierre, Odent, Sylvie, Bailleul-Forestier, Isabelle, Rousset, Monique Marie, Merametdijan, Laure, Toutain, Annick, Joseph, Clara, Giuliano, Fabienne, Dahlet, Jean-Christophe, Courval, Aymeric, El Alloussi, Mustapha, Laouina, Samir, Soskin, Sylvie, Guffon, Nathalie, Dieux, Anne, Doray, Bérénice, Feierabend, Stephanie, Ginglinger, Emmanuelle, Fournier, Benjamin, de la Dure Molla, Muriel, Alembik, Yves, Tardieu, Corinne, Clauss, François, Berdal, Ariane, Stoetzel, Corinne, Manière, Marie Cécile, Dollfus, Hélène, and Bloch-Zupan, Agnès

Published
2016
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30. Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

Author

Huckert, Mathilde, Stoetzel, Corinne, Morkmued, Supawich, Laugel-Haushalter, Virginie, Geoffroy, Véronique, Muller, Jean, Clauss, François, Prasad, Megana K., Obry, Frédéric, Raymond, Jean Louis, Switala, Marzena, Alembik, Yves, Soskin, Sylvie, Mathieu, Eric, Hemmerlé, Joseph, Weickert, Jean-Luc, Dabovic, Branka Brukner, Rifkin, Daniel B., Dheedene, Annelies, Boudin, Eveline, Caluseriu, Oana, Cholette, Marie-Claude, Mcleod, Ross, Antequera, Reynaldo, Gellé, Marie-Paule, Coeuriot, Jean-Louis, Jacquelin, Louis-Frédéric, Bailleul-Forestier, Isabelle, Manière, Marie-Cécile, Van Hul, Wim, Bertola, Debora, Dollé, Pascal, Verloes, Alain, Mortier, Geert, Dollfus, Hélène, and Bloch-Zupan, Agnès

Published
2015
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32. Periodontal (formerly type VIII ) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype

Author

El Chehadeh, Salima, primary, Legrand, Anne, additional, Stoetzel, Corinne, additional, Geoffroy, Véronique, additional, Billon, Clarisse, additional, Adham, Salma, additional, Jeunemaître, Xavier, additional, Jaussaud, Roland, additional, Muller, Jean, additional, Schaefer, Elise, additional, Benistan, Karelle, additional, Gaertner, Sébastien, additional, Bloch‐Zupan, Agnès, additional, Courval, Aymeric, additional, Manière, Marie‐Cécile, additional, Petit, Catherine, additional, Bursztejn, Anne‐Claire, additional, Bal, Laurence, additional, Reyre, Anthony, additional, Chammas, Agathe, additional, Busa, Tiffany, additional, Dollfus, Hélène, additional, and Lipsker, Dan, additional

Published
2021
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40. Acknowledgments

Author

Bloch-Zupan, Agnès, primary, Sedano, Heddie O., additional, and Scully, Crispian, additional

Published
2012
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41. Introduction

Author

Bloch-Zupan, Agnès, primary, Sedano, Heddie O., additional, and Scully, Crispian, additional

Published
2012
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43. A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

Author

Laugel-Haushalter, Virginie, Bär, Séverine, Schaefer, Elise, Stoetzel, Corinne, Geoffroy, Véronique, Alembik, Yves, Kharouf, Naji, Huckert, Mathilde, Hamm, Pauline, Hemmerlé, Joseph, Maniere, Marie-Cécile, Friant, Sylvie, Dollfus, Hélène, Bloch-Zupan, Agnès, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Génétique moléculaire, génomique, microbiologie (GMGM), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS), Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Génétique Clinique [Hautepierre Strasbourg], Hôpital de Hautepierre [Strasbourg], Faculté de chirurgie dentaire - Strasbourg, Université de Strasbourg (UNISTRA), Biomatériaux et Bioingénierie (BB), Université de Strasbourg (UNISTRA)-Matériaux et nanosciences d'Alsace (FMNGE), Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut de Chimie du CNRS (INC)-Université de Strasbourg (UNISTRA)-Université de Haute-Alsace (UHA) Mulhouse - Colmar (Université de Haute-Alsace (UHA))-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM), Nanomédecine Régénérative (NanoRegMed), and Les Hôpitaux Universitaires de Strasbourg (HUS)

Subjects
[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, NGS (next generation sequencing), Genetics, rare diseases, Sciences du Vivant [q-bio]/Biotechnologies, Case Report, amelogenesis imperfecta, human, skeletal dysplasia, Sciences du Vivant [q-bio]/Génétique
Abstract

International audience; Amelogenesis imperfecta (AI) is a heterogeneous group of rare inherited diseases presenting with enamel defects. More than 30 genes have been reported to be involved in syndromic or non-syndromic AI and new genes are continuously discovered (Smith et al., 2017). Whole-exome sequencing was performed in a consanguineous family. The affected daughter presented with intra-uterine and postnatal growth retardation, skeletal dysplasia, macrocephaly, blue sclerae, and hypoplastic AI. We identified a homozygous missense mutation in exon 11 of SLC10A7 (NM_001300842.2: c.908C>T; p.Pro303Leu) segregating with the disease phenotype. We found that Slc10a7 transcripts were expressed in the epithelium of the developing mouse tooth, bones undergoing ossification, and in vertebrae. Our results revealed that SLC10A7 is overexpressed in patient fibroblasts. Patient cells display altered intracellular calcium localization suggesting that SLC10A7 regulates calcium trafficking. Mutations in this gene were previously reported to cause a similar syndromic phenotype, but with more severe skeletal defects (Ashikov et al., 2018;Dubail et al., 2018). Therefore, phenotypes resulting from a mutation in SLC10A7 can vary in severity. However, AI is the key feature indicative of SLC10A7 mutations in patients with skeletal dysplasia. Identifying this important phenotype will improve clinical diagnosis and patient management.

Published
2019
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46. Deficiency of the SMOC2 matricellular protein impairs bone healing and produces age-dependent bone loss

Author

CMM Sectie Molecular Cancer Research, Child Health, Regenerative Medicine and Stem Cells, Cancer, Hubrecht Institute with UMC, Morkmued, Supawich, Clauss, François, Schuhbaur, Brigitte, Fraulob, Valérie, Mathieu, Eric, Hemmerlé, Joseph, Clevers, Hans, Koo, Bon Kyoung, Dollé, Pascal, Bloch-Zupan, Agnès, Niederreither, Karen, CMM Sectie Molecular Cancer Research, Child Health, Regenerative Medicine and Stem Cells, Cancer, Hubrecht Institute with UMC, Morkmued, Supawich, Clauss, François, Schuhbaur, Brigitte, Fraulob, Valérie, Mathieu, Eric, Hemmerlé, Joseph, Clevers, Hans, Koo, Bon Kyoung, Dollé, Pascal, Bloch-Zupan, Agnès, and Niederreither, Karen

Published
2020

47. Orodental phenotype and genotype findings in all subtypes of hypophosphatasia

Author

Clauss François, Manière Marie-Cécile, Reibel Amélie, Droz Dominique, Alembik Yves, Mornet Etienne, and Bloch-Zupan Agnès

Subjects
Medicine
Abstract

Abstract Background Hypophosphatasia (HP) is a rare inherited disorder characterized by a wide spectrum of defects in mineralized tissues and caused by deficiency in the tissue non-specific alkaline phosphatase gene (ALPL). The symptoms are highly variable in their clinical expression, and relate to numerous mutations in this gene. The first clinical sign of the disease is often a premature loss of deciduous teeth, mostly in the moderate forms. Aim The purpose of this study was to document the oral features of HP patients and to relate theses features to the six recognized forms of HP in 5 patients with known genotype and to investigate the genotype-phenotype correlations. Methods Clinical and radiographic examinations were carried out. We collected medical and dental history in the kindred and biochemical data. Finally, mutations in the ALPL gene were tested by DNA sequencing in SESEP laboratory. Results We have for the first time related the known dental anomalies which occur as integral features of HP to the recognized clinical forms of HP. We also pointed out striking dental abnormalities which were never described in association with this rare disease. Accurate genotype-phenotype severity correlations were observed. Conclusion This work allowed us to compare orodental manifestations in all the clinical forms of HP within the patient's sample. According to the severity of the disorder, some dental defects were infrequent, while other were always present. The long term prognosis of the permanent teeth varies from a patient to another. As premature loss of primary teeth is often the first, and sometimes the only visible symptom of the milder forms, the paediatric dentist plays a critical role in the detection and diagnosis of the disease.

Published
2009
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48. Otodental syndrome

Author

Bloch-Zupan Agnès and Goodman Jane R

Subjects
Medicine
Abstract

Abstract The otodental syndrome also named otodental dysplasia, is characterised by a striking dental phenotype known as globodontia, associated with sensorineural high frequency hearing loss and eye coloboma. Globodontia occurs in both primary and permanent dentition, affecting canine and molar teeth (i.e. enlarged bulbous malformed posterior teeth with almost no discernable cusps or grooves). The condition appears to be inherited in an autosomal dominant mode, although sporadic cases have been reported. It is a rare disease, a few families have been described in the literature. In the British family, the locus for oculo-oto-dental syndrome was mapped to 20q13.1 within a 12-cM critical chromosomal region. Dental management is complex, interdisciplinary and will include regular follow up, scheduled teeth extraction and orthodontic treatment. Hearing checks and, if necessary, hearing aids are mandatory, as well as eye examination and ad hoc treatment if necessary.

Published
2006
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49. Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

Author

Laugel-Haushalter, Virginie, primary, Morkmued, Supawich, additional, Stoetzel, Corinne, additional, Geoffroy, Véronique, additional, Muller, Jean, additional, Boland, Anne, additional, Deleuze, Jean-François, additional, Chennen, Kirsley, additional, Pitiphat, Waranuch, additional, Dollfus, Hélène, additional, Niederreither, Karen, additional, Bloch-Zupan, Agnès, additional, and Pungchanchaikul, Patimaporn, additional

Published
2018
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50. Evolutionary Analysis Predicts Sensitive Positions of MMP20 and Validates Newly- and Previously-Identified MMP20 Mutations Causing Amelogenesis Imperfecta

Author

Gasse, Barbara, Prasad, Megana, Delgado, Sidney, Huckert, Mathilde, Kawczynski, Marzena, Garret-Bernardin, Annelyse, Lopez-Cazaux, Serena, Bailleul-Forestier, Isabelle, Manière, Marie-Cécile, Stoetzel, Corinne, Bloch-Zupan, Agnès, Sire, Jean-Yves, Institut de Biologie Paris Seine (IBPS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Pierre et Marie Curie - Paris 6 (UPMC)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Génétique Médicale (LGM), Université de Strasbourg (UNISTRA)-Institut National de la Santé et de la Recherche Médicale (INSERM), Faculté de chirurgie dentaire - Strasbourg, Université de Strasbourg (UNISTRA), Faculté d'Odontologie de Nantes, Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Université de Strasbourg - Faculté d'Odontologie, Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Université de Toulouse (UT), and HAL UPMC, Gestionnaire

Subjects
stomatognathic system, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, [SDV.MHEP.PHY] Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], Physiology, phenotype, evolution, [SDV.MHEP.PHY]Life Sciences [q-bio]/Human health and pathology/Tissues and Organs [q-bio.TO], MMP20, amelogenesis imperfecta, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, mutations, Original Research
Abstract

International audience; Amelogenesis imperfecta (AI) designates a group of genetic diseases characterized by a large range of enamel disorders causing important social and health problems. These defects can result from mutations in enamel matrix proteins or protease encoding genes. A range of mutations in the enamel cleavage enzyme matrix metalloproteinase-20 gene (MMP20) produce enamel defects of varying severity. To address how various alterations produce a range of AI phenotypes, we performed a targeted analysis to find MMP20 mutations in French patients diagnosed with non-syndromic AI. Genomic DNA was isolated from saliva and MMP20 exons and exon-intron boundaries sequenced. We identified several homozygous or heterozygous mutations, putatively involved in the AI phenotypes. To validate missense mutations and predict sensitive positions in the MMP20 sequence, we evolutionarily compared 75 sequences extracted from the public databases using the Datamonkey webserver. These sequences were representative of mammalian lineages, covering more than 150 million years of evolution. This analysis allowed us to find 324 sensitive positions (out of the 483 MMP20 residues), pinpoint functionally important domains, and build an evolutionary chart of important conserved MMP20 regions. This is an efficient tool to identify new- and previously-identified mutations. We thus identified six functional MMP20 mutations in unrelated families, finding two novel mutated sites. The genotypes and phenotypes of these six mutations are described and compared. To date, 13 MMP20 mutations causing AI have been reported, making these genotypes and associated hypomature enamel phenotypes the most frequent in AI.

Published
2017
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