Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement

por Mechaussier, Sabrina, Almoallem, Basamat, Zeitz, Christina, Van Schil, Kristof, Jeddawi, Laila, Van Dorpe, Jo, Rey, Alfredo Dueñas, Condroyer, Christel, Pelle, Olivier, Polak, Michel, Boddaert, Nathalie, Bahi-Buisson, Nadia, Cavallin, Mara, Bacquet, Jean-Louis, Mouallem-Bézière, Alexandra, Zambrowski, Olivia, Sahel, José Alain, Audo, Isabelle, Kaplan, Josseline, Rozet, Jean-Michel, De Baere, Elfride, Perrault, Isabelle
Publicado 2020

A13 THE RATE OF ADVERSE EVENTS AFTER COVID-19 VACCINATION IS SIMILAR IN PATIENTS WITH CELIAC DISEASE AND NON-CELIAC POPULATION: RESULTS OF A LARGE INTERNATIONAL CROSS-SECTIONAL STU...

por Tandon, S, Stefanolo, J P, Russell, L, Paz Temprano, M D L, Niveloni, S, Verdu, E, Armstrong, D, Lebwohl, B, Leffler, D, Tye-Din, J, Day, A, Olano, C, Lopez, V, Uzcanga, L, Madaria, E, Montoro Huguet, M, Vivas, S, Rodriguez-Herrera, A, Makharia, G, Sanders, D, Zeitz, J, Mulder, C, Ciacci, C, Valerio, F, Pinto-Sanchez, M I
Publicado 2023

NMNAT1 mutations cause Leber congenital amaurosis

por Falk, Marni J, Zhang, Qi, Nakamaru-Ogiso, Eiko, Kannabiran, Chitra, Fonseca-Kelly, Zoe, Chakarova, Christina, Audo, Isabelle, Mackay, Donna S, Zeitz, Christina, Borman, Arundhati Dev, Staniszewska, Magdalena, Shukla, Rachna, Palavalli, Lakshmi, Mohand-Said, Saddek, Waseem, Naushin H, Jalali, Subhadra, Perin, Juan C, Place, Emily, Ostrovsky, Julian, Xiao, Rui, Bhattacharya, Shomi S, Consugar, Mark, Webster, Andrew R, Sahel, José-Alain, Moore, Anthony T, Berson, Eliot L, Liu, Qin, Gai, Xiaowu, Pierce, Eric A.
Publicado 2012

Implementation and prospective evaluation of the Country Heart Attack Prevention model of care to improve attendance and completion of cardiac rehabilitation for patients with card...

por Beleigoli, Alline, Nicholls, Stephen J, Brown, Alex, Chew, Derek P, Beltrame, John, Maeder, Anthony, Maher, Carol, Versace, Vincent L, Hendriks, Jeroen M, Tideman, Philip, Kaambwa, Billingsley, Zeitz, Christopher, Prichard, Ivanka J, Tavella, Rosanna, Tirimacco, Rosy, Keech, Wendy, Astley, Carolyn, Govin, Kay, Nesbitt, Katie, Du, Huiyun, Champion, Stephanie, Pinero de Plaza, Maria Alejandra, Lynch, Imelda, Poulsen, Vanessa, Ludlow, Marie, Wanguhu, Ken, Meyer, Hendrika, Krollig, Ali, Gebremichael, Lemlem, Green, Chloe, Clark, Robyn A
Publicado 2022

New variants and in silico analyses in GRK1 associated Oguchi disease

por Poulter, James A., Gravett, Molly S. C., Taylor, Rachel L., Fujinami, Kaoru, De Zaeytijd, Julie, Bellingham, James, Rehman, Atta Ur, Hayashi, Takaaki, Kondo, Mineo, Rehman, Abdur, Ansar, Muhammad, Donnelly, Dan, Toomes, Carmel, Ali, Manir, De Baere, Elfride, Leroy, Bart P., Davies, Nigel P., Henderson, Robert H., Webster, Andrew R., Rivolta, Carlo, Zeitz, Christina, Mahroo, Omar A., Arno, Gavin, Black, Graeme C. M., McKibbin, Martin, Harris, Sarah A., Khan, Kamron N., Inglehearn, Chris F.
Publicado 2020

Autoregulation of Th1-mediated inflammation by twist1

por Niesner, Uwe, Albrecht, Inka, Janke, Marko, Doebis, Cornelia, Loddenkemper, Christoph, Lexberg, Maria H., Eulenburg, Katharina, Kreher, Stephan, Koeck, Juliana, Baumgrass, Ria, Bonhagen, Kerstin, Kamradt, Thomas, Enghard, Philipp, Humrich, Jens Y., Rutz, Sascha, Schulze-Topphoff, Ulf, Aktas, Orhan, Bartfeld, Sina, Radbruch, Helena, Hegazy, Ahmed N., Löhning, Max, Baumgart, Daniel C., Duchmann, Rainer, Rudwaleit, Martin, Häupl, Thomas, Gitelman, Inna, Krenn, Veit, Gruen, Joachim, Sieper, Jochen, Zeitz, Martin, Wiedenmann, Bertram, Zipp, Frauke, Hamann, Alf, Janitz, Michal, Scheffold, Alexander, Burmester, Gerd R., Chang, Hyun D., Radbruch, Andreas
Publicado 2008

CNGB1‐related rod‐cone dystrophy: A mutation review and update

por Nassisi, Marco, Smirnov, Vasily M., Solis Hernandez, Cyntia, Mohand‐Saïd, Saddek, Condroyer, Christel, Antonio, Aline, Kühlewein, Laura, Kempf, Melanie, Kohl, Susanne, Wissinger, Bernd, Nasser, Fadi, Ragi, Sara D., Wang, Nan‐Kai, Sparrow, Janet R., Greenstein, Vivienne C., Michalakis, Stylianos, Mahroo, Omar A., Ba‐Abbad, Rola, Michaelides, Michel, Webster, Andrew R., Degli Esposti, Simona, Saffren, Brooke, Capasso, Jenina, Levin, Alex, Hauswirth, William W., Dhaenens, Claire‐Marie, Defoort‐Dhellemmes, Sabine, Tsang, Stephen H., Zrenner, Eberhart, Sahel, Jose‐Alain, Petersen‐Jones, Simon M., Zeitz, Christina, Audo, Isabelle
Publicado 2021

Low-frequency drug-resistant HIV-1 and risk of virological failure to first-line NNRTI-based ART: a multicohort European case–control study using centralized ultrasensitive 454 pyr...

por Cozzi-Lepri, Alessandro, Noguera-Julian, Marc, Di Giallonardo, Francesca, Schuurman, Rob, Däumer, Martin, Aitken, Sue, Ceccherini-Silberstein, Francesca, D'Arminio Monforte, Antonella, Geretti, Anna Maria, Booth, Clare L., Kaiser, Rolf, Michalik, Claudia, Jansen, Klaus, Masquelier, Bernard, Bellecave, Pantxika, Kouyos, Roger D., Castro, Erika, Furrer, Hansjakob, Schultze, Anna, Günthard, Huldrych F., Brun-Vezinet, Francoise, Paredes, Roger, Metzner, Karin J., Paredes, Roger, Metzner, Karin J., Cozzi-Lepri, Alessandro, Schuurman, Rob, Brun-Vezinet, Francoise, Günthard, Huldrych, Ceccherini-Silberstein, Francesca, Kaiser, Rolf, Geretti, Anna Maria, Brockmeyer, Norbert, Masquelier, Bernard, Dabis, F., Bruyand, M., Chêne, G., Dabis, F., Lawson-Ayayi, S., Thiébaut, R., Wittkop, L., André, K., Bonnal, F., Bonnet, F., Bernard, N., Caunègre, L., Cazanave, C., Ceccaldi, J., Chossat, I., Courtaud, K., Dauchy, F. A., De Witte, S., Dupon, M., Dupont, A., Duffau, P., Dutronc, H., Farbos, S., Gaborieau, V., Gemain, M. C., Gerard, Y., Greib, C., Hessamfar, M., Lacoste, D., Lataste, P., Lazaro, E., Longy-Boursier, M., Malvy, D., Meraud, J. P., Mercié, P., Monlun, E., Morlat, P., Neau, D., Ochoa, A., Pellegrin, J. L., Pistone, T., Receveur, M. C., Schmeltz, J. Roger, Tchamgoué, S., Vandenhende, M. A., Vareil, M.O., Viallard, J. F., Moreau, J. F., Pellegrin, I., Fleury, H., Lafon, M. E., Masquelier, B., Reigadas, S., Trimoulet, P., Bouchet, S., Breilh, D., Molimard, M., Titier, K., Haramburu, F., Miremont-Salamé., G., Blaizeau, M. J., Decoin, M., Delaune, J., Delveaux, S., D'Ivernois, C., Hanapier, C., Leleux, O., Lenaud, E., Uwamaliya-Nziyumvira, B., Sicard, X., Geffard, S., Le Marec, F., Conte, V., Frosch, A., Leray, J., Palmer, G., Touchard, D., Bonnet, F., Breilh, D., Chêne, G., Dabis, F., Dupon, M., Fleury, H., Malvy, D., Mercié, P., Morlat, P., Neau, D., Pellegrin, I., Pellegrin, J. L., Bouchet, S., Gaborieau, V., Lacoste, D., Tchamgoué, S., Thiébaut, R., Losso, M., Kundro, M., Ramos Mejia, J. M., Vetter, N., Zangerle, R., Karpov, I., Vassilenko, A., Mitsura, V. M., Suetnov, O., Clumeck, N., De Wit, S., Delforge, M., Florence, E., Vandekerckhove, L., Hadziosmanovic, V., Kostov, K., Begovac, J., Machala, L., Jilich, D., Sedlacek, D., Nielsen, J., Kronborg, G., Benfield, T., Larsen, M., Gerstoft, J., Katzenstein, T., Hansen, A.-B. E., Skinhøj, P., Pedersen, C., Ostergaard, L., Dragsted, U. B., Nielsen, L. N., Zilmer, K., Smidt, Jelena, Ristola, M., Katlama, C., Viard, J. P., Girard, P. M., Vanhems, P., Pradier, C., Dabis, F., Neau, D., Duvivier, C., Rockstroh, J., Schmidt, R., van Lunzen, J., Degen, O., Stellbrink, H. J., Bickel, M., Bogner, J., Fätkenheuer, G., Kosmidis, J., Gargalianos, P., Xylomenos, G., Perdios, J., Sambatakou, H., Banhegyi, D., Gottfredsson, M., Mulcahy, F., Yust, I., Turner, D., Burke, M., Pollack, S., HassounRambam, G., Elinav, H., HaouziHadassah, M., EspositoI, R., Mazzotta, F., Vullo, V., Moroni, M., Andreoni, M., Angarano, G., Antinori, A., Castelli, F., Cauda, R., Di Perri, G., Galli, M., Iardino, R., Ippolito, G., Lazzarin, A., Perno, C. F., von Schloesser, F., Viale, P., Monforte, A. D'Arminio, Antinori, A., Castagna, A., Ceccherini-Silberstein, F., Cozzi-Lepri, A., Girardi, E., Lo Caputo, S., Mussini, C., Puoti, M., Andreoni, M., Ammassari, A., Antinori, A., Balotta, C., Bonfanti, P., Bonora, S., Borderi, M., Capobianchi, M. R., Castagna, A., Ceccherini-Silberstein, F., Cingolani, A., Cinque, P., Cozzi-Lepri, A., De Luca, A., Di Biagio, A., Girardi, E., Gianotti, N., Gori, A., Guaraldi, G., Lapadula, G., Lichtner, M., Lo Caputo, S., Madeddu, G., Maggiolo, F., Marchetti, G., Marcotullio, S., Monno, L., Mussini, C., Puoti, M., Quiros Roldan, E., Rusconi, S., Cozzi-Lepri, A., Cicconi, P., Fanti, I., Formenti, T., Galli, L., Lorenzini, P., Carletti, F., Carrara, S., Castrogiovanni, A., Di Caro, A., Petrone, F., Prota, G., Quartu, S., Giacometti, A., Costantini, A., Mazzoccato, S., Angarano, G., Monno, L., Santoro, C., Maggiolo, F., Suardi, C., Viale, P., Vanino, E., Verucchi, G., Castelli, F., Quiros Roldan, E., Minardi, C., Quirino, T., Abeli, C., Manconi, P. E., Piano, P., Vecchiet, J., Falasca, K., Sighinolfi, L., Segala, D., Mazzotta, F., Lo Caputo, S., Cassola, G., Viscoli, C., Alessandrini, A., Piscopo, R., Mazzarello, G., Mastroianni, C., Belvisi, V., Bonfanti, P., Caramma, I., Chiodera, A., Castelli, A. P., Galli, M., Lazzarin, A., Rizzardini, G., Puoti, M., D'Arminio Monforte, A., Ridolfo, A. L., Piolini, R., Castagna, A., Salpietro, S., Carenzi, L., Moioli, M. C., Tincati, C., Marchetti, G., Mussini, C., Puzzolante, C., Gori, A., Lapadula, G., Abrescia, N., Chirianni, A., Guida, M. G., Gargiulo, M., Baldelli, F., Francisci, D., Parruti, G., Ursini, T., Magnani, G., Ursitti, M. A., Cauda, R., Andreoni, M., Antinori, A., Vullo, V., Cingolani, A., d'Avino, A., Gallo, L., Nicastri, E., Acinapura, R., Capozzi, M., Libertone, R., Tebano, G., Cattelan, A., Sasset, L., Mura, M. S., Madeddu, G., De Luca, A., Rossetti, B., Caramello, P., Di Perri, G., Orofino, G. C., Bonora, S., Sciandra, M., Bassetti, M., Londero, A., Pellizzer, G., Manfrin, V., Brockmeyer, N. H., Skaletz-Rorowski, A., Dupke, S., Baumgarten, A., Carganico, A., Köppe, S., Kreckel, P., Lauenroth-Mai, E., Freiwald-Rausch, M., Gölz, J., Moll, A., Zeitz, M., Hower, M., Reuter, S., Jensen, B., Harrer, T., Esser, S., Brodt, H. R., Plettenberg, A., Stöhr, A., Buhk, T., Stellbrink, H. J., Stoll, M., Schmidt, R., Kuhlmann, B., Mosthaf, F. A., Rieke, A., Becker, W., Volkert, R., Jäger, H., Hartl, H., Mutz, A., Ulmer, A., Müller, M., Aubert, V., Barth, J., Battegay, M., Bernasconi, E., Böni, J., Bucher, H. C., Burton-Jeangros, C., Calmy, A., Cavassini, M., Egger, M., Elzi, L., Fehr, J., Fellay, J., Furrer, H., Fux, C. A., Gorgievski, M., Günthard, H., Haerry, D., Hasse, B., Hirsch, H. H., Hösli, I., Kahlert, C., Kaiser, L., Keiser, O., Klimkait, T., Kovari, H., Kouyos, R., Ledergerber, B., Martinetti, G., Martinez de Tejada, B., Metzner, K., Müller, N., Nadal, D., Pantaleo, G., Rauch, A., Regenass, S., Rickenbach, M., Rudin, C., Schmid, P., Schultze, D., Schöni-Affolter, F., Schüpbach, J., Speck, R., Staehelin, C., Tarr, P., Telenti, A., Trkola, A., Vernazza, P., Weber, R., Yerly, S.
Publicado 2015

Prediction modelling studies for medical usage rates in mass gatherings: A systematic review

por Van Remoortel, Hans, Scheers, Hans, De Buck, Emmy, Haenen, Winne, Vandekerckhove, Philippe
Publicado 2020

Psychological distress of adult patients consulting a center for rare and undiagnosed diseases: a cross-sectional study

por Mund, Meike, Uhlenbusch, Natalie, Rillig, Franziska, Weiler-Normann, Christina, Herget, Theresia, Kubisch, Christian, Löwe, Bernd, Schramm, Christoph
Publicado 2023