Vis d’expansion sous-talienne pour pied plat valgus idiopathique flexible de l’enfant : résultats fonctionnels et radiologiques. Étude rétrospective multicentrique

Autor: Caroline Le Gall, Walid Lakhal, Emmanuelle Mayrargue, Bernard Fraisse, Sylvette Marleix, Gregory Lucas, Alexandre Losson, Nicolas Fréger, Philippe Violas

Publikováno v: Revue de Chirurgie Orthopédique et Traumatologique.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::68ce76518823fb0ebe018d23205404db
https://doi.org/10.1016/j.rcot.2022.11.013

RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature

Autor: Katherine R. Nelson, Emilien Orgebin, Loic Geoffroy, Shawn R. Gilbert, Marie-Françoise O'Donohue, Antoine Hamel, Leonid Zeitlin, Stéphane Téletchéa, Annick Toutain, Richard Redon, Alexander Pepler, Benjamin Cogné, Stéphane Bézieau, Pierre Lindenbaum, Robel Tesfaye, Marc Baud'huin, Mathilde Nizon, Cédric Le Caignec, Christelle Retière, Lydie Da Costa, Manon Saby, Benoît de Courtivron, Yael Wilnai, Aliette Decock-Giraudaud, Benjamin Ory, Céline Charrier, Anna C.E. Hurst, Bertrand Isidor, Emmanuelle Mayrargue, Pierre-Emmanuel Gleizes, Kirsty McWalter, Francois Lamoureux, Olivier Pichon, Eitan Segev

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), In press, ⟨10.1016/j.ajhg.2019.09.024⟩
Am J Hum Genet

Variants in genes encoding ribosomal proteins have thus far been associated with Diamond-Blackfan anemia, a rare inherited bone marrow failure, and isolated congenital asplenia. Here, we report one de novo missense variant and three de novo splice va

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::395f5a105ec7adf07a5937db715ea6dc
https://hal.archives-ouvertes.fr/hal-02327833

Whole-body MR imaging in suspected physical child abuse: comparison with skeletal survey and bone scintigraphy findings from the PEDIMA prospective multicentre study

Autor: Proisy, Maïa, Vivier, Pierre-Hugues, Morel, Baptiste, Bruneau, Bertrand, Sembely-Taveau, Catherine, Vacheresse, Solène, Devillers, Anne, Lecloirec, Joseph, Bodet-Milin, Caroline, Dubois, Marine, Hamonic, Stéphanie, Bajeux, Emma, Ganivet, Anne, Adamsbaum, Catherine, Treguier, Catherine, Abalea, Lydie, Croly-Labourdette, Séverine, Dam Hieu, Phong, Dobrzynski, Murielle, Fenoll, Bertrand, Forlodou, Pierre, Le Bot, Christiane, Lefranc, Jérémie, Lesoeur, Mélanie, Mériot, Philippe, Peudenier, Sylviane, Querello, Solène, Salaun, Pierre Yves, Olivier, Pierre, Martrille, Laurent, Borsa-Dorion, Anne, Galloy, Marie-Agnès, Mainard-Simard, Laurence, Raffo, Emmanuel, Cavare-Vigneron, Sylvie, Claudon, Michel, Klein, Olivier, Schmitt, Emmanuelle, Le Tacon, Serge, Morel, Olivier, Lapp, Lucie, Bodere-Kraeber, Françoise, Milin, Caroline, Fleury, Juliette, Geffroy, Loïc, Hamel, Sophie, Lefrancois, Thomas, Longis, Marie-Pierre, Mayrargue, Emmanuelle, Picherot, Georges, Quéré, Marie-Pierre, Rozé, Jean-Christophe, Vabres, Nathalie, Bouvet, Renaud, Le Gueut, Mariannick, Riffaud, Laurent, Balençon, Martine, Bétrémieux, Pierre, Chapuis, Madeleine, Chasle, Véronique, Dabadie, Alain, Damaj, Léna, Darnault, Pierre, de La Brière, François, Delahaye, Séverine, Duvauferrier, Regis, Farges, Céline, Fraisse, Bernard, Gaillot, Théophile, Gardin, Maryse, Gauvrit, Cécile, Guitteny, Marie-Aline, Marleix, Sylvette, Napuri, Silvia, Roussey, Michel, Rozel, Céline, Tirel, Olivier, Vignaud, Catherine, Violas, Philippe, Wodey, Eric, Pierre, Marion, Pladys, Patrick, Abu-Amara, Saad, Bachy, Bruno, Brasseur-Daudruy, Marie, Dacher, Jean-Nicolas, Delmon, Pascal, Lechevallier-Amara, Joël, Lerebours, Bénédicte, Leroux, Julien, Proust, Francois, Rigal, Sophie, Baulieu, Jean-Louis, Venel, Yann, Elodie, Carpentier, Chantepie, Alain, Chantreuil, Julie, Come, Mathieu, de Courtivron, Benoit, Labarthe, François, Marot, Yves, Pepin-Donat, Myriam, Sirinelli, Dominique, Travers, Nadine, Urvois-Grange, Annie, O'Byrne, Patrick, Listrat, Antoine, Barge-Galern, Marie-Luce, Le Cloirec, Joseph, Vera, Pierre, Kone-Paut, I., Deiva, Kumaran, Chaumet-Riffaud, Philippe, Grimon, Gilles, Archambaud, Frederique, Zenkhri, Ferielle, Galeotti, Caroline, Sevette-Béchard, Nancy, Prodhomme, Olivier, Leconte, Céline, Haquet, Armelle, Bourdon, Aurélie, Sainmont, Mélanie, De-Pontual, Loic, Sellier, Nicolas, Trieu, Thanh-Van, de Labriolle-Vaylet, Claire

Publikováno v: European Radiology
European Radiology, 2021, Online ahead of print. ⟨10.1007/s00330-021-07896-9⟩
European Radiology, Springer Verlag, 2021, Online ahead of print. ⟨10.1007/s00330-021-07896-9⟩

International audience; Objectives: To assess the contribution of whole-body magnetic resonance imaging (WBMRI) and bone scintigraphy (BS) in addition to skeletal survey (SS) in detecting traumatic bone lesions and soft-tissue injuries in suspected c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec30cfbd8a7767cc6655bb0cf2f012e7
https://doi.org/10.1007/s00330-021-07896-9