Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14

Autor: Ambrose, J.C., Arumugam, P., Bevers, R., Bleda, M., Boardman-Pretty, F., Boustred, C.R., Brittain, H., Brown, M.A., Caulfield, M.J., Chan, G.C., Giess, A., Griffin, J.N., Hamblin, A., Henderson, S., Hubbard, T.J.P., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Kousathanas, A., Lahnstein, L., Lakey, A., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., Maleady-Crowe, F., McEntagart, M., Minneci, F., Mitchell, J., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., O‘Donovan, P., Odhams, C.A., Patch, C., Perez-Gil, D., Pereira, M.B., Pullinger, J., Rahim, T., Rendon, A., Rogers, T., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smith, S.C., Sosinsky, A., Stuckey, A., Tanguy, M., Taylor Tavares, A.L., Thomas, E.R.A., Thompson, S.R., Tucci, A., Welland, M.J., Williams, E., Witkowska, K., Wood, S.M., Zarowiecki, M., Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, Hoischen, Alexander, ’t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Gilissen, Christian, Steyaert, Wouter, Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, de Boer, Elke, Steehouwer, Marloes, Yaldiz, Burcu, Kleefstra, Tjitske, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Wadsley, Marc, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Töpf, Ana, Straub, Volker, Bettolo, Chiara Marini, Specht, Sabine, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Garcia, Carles, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Paramonov, Ida, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Olry, Annie, Lagorce, David, Havrylenko, Svitlana, Izem, Katia, Rigour, Fanny, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Jr., Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Kremlik, Vlastimil, Parkinson, Helen, Keane, Thomas, Spalding, Dylan, Senf, Alexander, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, Van de Vondel, Liedewei, Beijer, Danique, de Jonghe, Peter, Nigro, Vincenzo, Banfi, Sandro, Torella, Annalaura, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Köhler, Sebastian, Metcalfe, Alison, Verloes, Alain, Drunat, Séverine, Rooryck, Caroline, Trimouille, Aurelien, Castello, Raffaele, Morleo, Manuela, Pinelli, Michele, Varavallo, Alessandra, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Martín, Estrella López, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Ciolfi, Andrea, Dallapiccola, Bruno, Pizzi, Simone, Radio, Francesca Clementina, Tartaglia, Marco, Renieri, Alessandra, Benetti, Elisa, Balicza, Peter, Molnar, Maria Judit, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, Macaya, Alfons, Marcé-Grau, Anna, Osorio, Andres Nascimiento, Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Beeson, David, Cossins, Judith, Rodriguez Cruz, Pedro M., Hackman, Peter, Johari, Mridul, Savarese, Marco, Udd, Bjarne, Horvath, Rita, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Schröck, Evelin, Rump, Andreas, Lin, Sheng-Jia, Jones, Elizabeth A., Chandler, Kate E., Orr, David, Moss, Celia, Haider, Zahra, Ryan, Gavin, Holden, Simon, Harrison, Mike, Burrows, Nigel, Jones, Wendy D., Loveless, Mary, Petree, Cassidy, Stewart, Helen, Low, Karen, Donnelly, Deirdre, Lovell, Simon, Drosou, Konstantina, Varshney, Gaurav K.

Publikováno v: In Human Genetics and Genomics Advances 13 April 2023 4(2)

Frequency of Health Care Resource Utilization and Direct Medical Costs Associated with Psoriatic Arthritis in a Rheumatic Care Center in Colombia

Autor: Santos-Moreno P, Gómez-De la Rosa F, Parra-Padilla D, Alvis-Zakzuk NJ, Alvis-Zakzuk NR, Carrasquilla-Sotomayor M, Valencia O, Alvis-Guzmán N

Publikováno v: Psoriasis: Targets and Therapy, Vol Volume 11, Pp 31-39 (2021)

Pedro Santos-Moreno,1 Fernando Gómez-De la Rosa,2 Devian Parra-Padilla,2,3 Nelson J Alvis-Zakzuk,2,4 Nelson R Alvis-Zakzuk,2 María Carrasquilla-Sotomayor,2 Omaira Valencia,1 Nelson Alvis-Guzmán2,5 1Biomab IPS – Center for Rheumatoid Arthritis, B

Externí odkaz: https://doaj.org/article/4d41afeef8a04b6f924d72fad3c1cac5

Worldwide comparison of survival from childhood leukaemia for 1995–2009, by subtype, age, and sex (CONCORD-2): a population-based study of individual data for 89 828 children from 198 registries in 53 countries

Autor: Bouzbid, S, Hamdi-Chérif, M, Zaidi, Z, Bah, E, Swaminathan, R, Nortje, SH, El Mistiri, MM, Bayo, S, Malle, B, Manraj, SS, Sewpaul-Sungkur, R, Fabowale, Ogunbiyi, OJ, Bradshaw, D, Somdyala, NIM, Stefan, DC, Abdel-Rahman, M, Jaidane, L, Mokni, M, Kumcher, I, Moreno, F, González, MS, Laura, EA, Espinola, SB, Calabrano, GH, Carballo Quintero, B, Fita, R, Garcilazo, DA, Giacciani, PL, Diumenjo, MC, Laspada, WD, Green, MA, Lanza, MF, Ibañez, SG, Lima, CA, de Oliveira, E Lobo, Daniel, C, Scandiuzzi, C, De Souza, PCF, Melo, CD, Del Pino, K, Laporte, C, Curado, MP, de Oliveira, JC, Veneziano, CLA, Veneziano, DB, Azevedo e Silva, G, Galaz, JC, Moya, JA, Herrmann, DA, Vargas, S, Herrera, VM, Uribe, CJ, Bravo, LE, Arias-Ortiz, NE, Jurado, DM, Yépez, MC, Galán, YH, Torres, P, Martínez-Reyes, F, Pérez-Meza, ML, Jaramillo, L, Quinto, R, Cueva, P, Yépez, JG, Torres-Cintrón, CR, Tortolero-Luna, G, Alonso, R, Barrios, E, Nikiforuk, C, Shack, L, Coldman, AJ, Woods, RR, Noonan, G, Turner, D, Kumar, E, Zhang, B, McCrate, FR, Ryan, S, Hannah, H, Dewar, RAD, MacIntyre, M, Lalany, A, Ruta, M, Marrett, L, Nishri, DE, McClure, C, Vriends, KA, Bertrand, C, Louchini, R, Robb, KI, Stuart-Panko, H, Demers, S, Wright, S, George, JT, Shen, X, Brockhouse, JT, O'Brien, DK, Ward, KC, Almon, L, Bates, J, Rycroft, R, Mueller, L, Phillips, C, Brown, H, Cromartie, B, Schwartz, AG, Vigneau, F, MacKinnon, JA, Wohler, B, Bayakly, AR, Clarke, CA, Glaser, SL, West, D, Green, MD, Hernandez, BY, Johnson, CJ, Jozwik, D, Charlton, ME, Lynch, CF, Huang, B, Tucker, TC, Deapen, D, Liu, L, Hsieh, MC, Wu, XC, Stern, K, Gershman, ST, Knowlton, RC, Alverson, J, Copeland, GE, Rogers, DB, Lemons, D, Williamson, LL, Hood, M, Hosain, GM, Rees, JR, Pawlish, KS, Stroup, A, Key, C, Wiggins, C, Kahn, AR, Schymura, MJ, Leung, G, Rao, C, Giljahn, L, Warther, B, Pate, A, Patil, M, Schubert, SS, Rubertone, JJ, Slack, SJ, Fulton, JP, Rousseau, DL, Janes, TA, Schwartz, SM, Bolick, SW, Hurley, DM, Richards, J, Whiteside, MA, Nogueira, LM, Herget, K, Sweeney, C, Martin, J, Wang, S, Harrelson, DG, Cheteri, MB Keitheri, Farley, S, Hudson, AG, Borchers, R, Stephenson, L, Espinoza, JR, Weir, HK, Edwards, BK, Wang, N, Yang, L, Chen, JS, Song, GH, Gu, XP, Zhang, P, Ge, HM, Zhao, DL, Zhang, JH, Zhu, FD, Tang, JG, Shen, Y, Wang, J, Li, QL, Yang, XP, Dong, J, Li, W, Cheng, LP, Chen, JG, Huang, QH, Huang, SQ, Guo, GP, Wei, K, Chen, WQ, Zeng, H, Demetriou, AV, Pavlou, P, Mang, WK, Ngan, KC, Kataki, AC, Krishnatreya, M, Jayalekshmi, PA, Sebastian, P, Sapkota, SD, Verma, Y, Nandakumar, A, Suzanna, E, Keinan-Boker, L, Silverman, BG, Ito, H, Nakagawa, H, Hattori, M, Kaizaki, Y, Sugiyama, H, Utada, M, Katayama, K, Narimatsu, H, Kanemura, S, Koike, T, Miyashiro, I, Yoshii, M, Oki, I, Shibata, A, Matsuda, T, Nimri, O, Ab Manan, A, Pathy, N Bhoo, Chimedsuren, O, Tuvshingerel, S, Al Khater, AHM, Al-Eid, H, Jung, KW, Won, YJ, Chiang, CJ, Lai, MS, Suwanrungruang, K, Wiangnon, S, Daoprasert, K, Pongnikorn, D, Geater, SL, Sriplung, H, Eser, S, Yakut, CI, Hackl, M, Mühlböck, H, Oberaigner, W, Zborovskaya, AA, Aleinikova, OV, Henau, K, Van Eycken, L, Dimitrova, N, Valerianova, Z, Šekerija, M, Zvolský, M, Engholm, G, Storm, H, Innos, K, Mägi, M, Malila, N, Seppä, K, Jégu, J, Velten, M, Cornet, E, Troussard, X, Bouvier, AM, Faivre, J, Guizard, AV, Bouvier, V, Launoy, G, Arveux, P, Maynadié, M, Mounier, M, Fournier, E, Woronoff, AS, Daoulas, M, Clavel, J, Le Guyader-Peyrou, S, Monnereau, A, Trétarre, B, Colonna, M, Cowppli-Bony, A, Molinié, F, Bara, S, Degré, D, Ganry, O, Lapôtre-Ledoux, B, Grosclaude, P, Estève, J, Bray, F, Piñeros, M, Sassi, F, Stabenow, R, Eberle, A, Erb, C, Nennecke, A, Kieschke, J, Sirri, E, Kajueter, H, Emrich, K, Zeissig, SR, Holleczek, B, Eisemann, N, Katalinic, A, Brenner, H, Asquez, RA, Kumar, V, Ólafsdóttir, EJ, Tryggvadóttir, L, Comber, H, Walsh, PM, Sundseth, H, Devigili, E, Mazzoleni, G, Giacomin, A, Bella, F, Castaing, M, Sutera, A, Gola, G, Ferretti, S, Serraino, D, Zucchetto, A, Lillini, R, Vercelli, M, Busco, S, Pannozzo, F, Vitarelli, S, Ricci, P, Pascucci, C, Autelitano, M, Cirilli, C, Federico, M, Fusco, M, Vitale, MF, Usala, M, Cusimano, R, Mazzucco, W, Michiara, M, Sgargi, P, Maule, MM, Sacerdote, C, Tumino, R, Di Felice, E, Vicentini, M, Falcini, F, Cremone, L, Budroni, M, Cesaraccio, R, Contrino, ML, Tisano, F, Fanetti, AC, Maspero, S, Candela, G, Scuderi, T, Gentilini, MA, Piffer, S, Rosso, S, Sacchetto, L, Caldarella, A, La Rosa, F, Stracci, F, Contiero, P, Tagliabue, G, Dei Tos, AP, Zorzi, M, Zanetti, R, Baili, P, Berrino, F, Gatta, G, Sant, M, Capocaccia, R, De Angelis, R, Liepina, E, Maurina, A, Smailyte, G, Agius, D, Calleja, N, Siesling, S, Visser, O, Larønningen, S, Møller, B, Dyzmann-Sroka, A, Trojanowski, M, Gózdz, S, Mezyk, R, Gradalska-Lampart, M, Radziszewska, AU, Didkowska, JA, Wojciechowska, U, Blaszczyk, J, Kepska, K, Bielska-Lasota, M, Kwiatkowska, K, Forjaz, G, Rego, RA, Bastos, J, Silva, MA, Antunes, L, Bento, MJ, Mayer-da-Silva, A, Miranda, A, Coza, D, Todescu, AI, Valkov, MY, Adamcik, J, Safaei Diba, C, Primic-Žakelj, M, Žagar, T, Stare, J, Almar, E, Mateos, A, Quirós, JR, Bidaurrazaga, J, Larrañaga, N, Díaz García, JM, Marcos, AI, Marcos-Gragera, R, Vilardell Gil, ML, Molina, E, Sánchez, MJ, Sureda, P Franch, Montserrat, M Ramos, Chirlaque, MD, Navarro, C, Ardanaz, EE, Moreno-Iribas, CC, Fernández-Delgado, R, Peris-Bonet, R, Galceran, J, Khan, S, Lambe, M, Camey, B, Bouchardy, C, Usel, M, Ess, SM, Herrmann, C, Bulliard, JL, Maspoli-Conconi, M, Frick, H, Kuehni, CE, Schindler, M, Bordoni, A, Spitale, A, Chiolero, A, Konzelmann, I, Dehler, SI, Matthes, KL, Rashbass, J, Stiller, CA, Fitzpatrick, D, Gavin, A, Bannon, F, Black, RJ, Brewster, DH, Huws, DW, White, C, Finan, P, Allemani, C, Bonaventure, A, Carreira, H, Coleman, MP, Di Carlo, V, Harewood, R, Liu, K, Matz, M, Montel, L, Nikšić, M, Rachet, B, Sanz, N, Spika, D, Stephens, R, Peake, M, Murphy, MFG, Chalker, E, Newman, L, Baker, D, Soeberg, MJ, Aitken, J, Scott, C, Stokes, BC, Venn, A, Farrugia, H, Giles, GG, Threlfall, T, Currow, D, You, H, Hendrix, J, Lewis, C, Latorre, MRDO, Tanaka, LF, Bonaventure, Audrey, Harewood, Rhea, Stiller, Charles A, Gatta, Gemma, Clavel, Jacqueline, Stefan, Daniela C, Carreira, Helena, Spika, Devon, Marcos-Gragera, Rafael, Peris-Bonet, Rafael, Piñeros, Marion, Sant, Milena, Kuehni, Claudia E, Murphy, Michael F G, Coleman, Michel P, Allemani, Claudia

Publikováno v: In The Lancet Haematology May 2017 4(5):e202-e217

Worldwide comparison of ovarian cancer survival: Histological group and stage at diagnosis (CONCORD-2)

Autor: Bouzbid, S., Hamdi-Chérif, M., Zaidi, Z., Bah, E., Swaminathan, R., Nortje, S.H., El Mistiri, M.M., Bayo, S., Malle, B., Manraj, S.S., Sewpaul-Sungkur, R., Fabowale, A., Ogunbiyi, O.J., Bradshaw, D., Somdyala, N.I.M., Stefan, D.C., Abdel-Rahman, M., Jaidane, L., Mokni, M., Kumcher, I., Moreno, F., González, M.S., Laura, E.A., Espinola, S.B., Calabrano, G.H., Carballo Quintero, B., Fita, R., Garcilazo, D.A., Giacciani, P.L., Diumenjo, M.C., Laspada, W.D., Green, M.A., Lanza, M.F., Ibañez, S.G., Lima, C.A., Lobo de Oliveira, E., Daniel, C., Scandiuzzi, C., De Souza, P.C.F., Melo, C.D., Del Pino, K., Laporte, C., Curado, M.P., de Oliveira, J.C., Veneziano, C.L.A., Veneziano, D.B., Latorre, M.R.D.O., Tanaka, L.F., Azevedo e Silva, G., Galaz, J.C., Moya, J.A., Herrmann, D.A., Vargas, S., Herrera, V.M., Uribe, C.J., Bravo, L.E., Arias-Ortiz, N.E., Jurado, D.M., Yépez, M.C., Galán, Y.H., Torres, P., Martínez-Reyes, F., Pérez-Meza, M.L., Jaramillo, L., Quinto, R., Cueva, P., Yépez, J.G., Torres-Cintrón, C.R., Tortolero-Luna, G., Alonso, R., Barrios, E., Nikiforuk, C., Shack, L., Coldman, A.J., Woods, R.R., Noonan, G., Turner, D., Kumar, E., Zhang, B., McCrate, F.R., Ryan, S., Hannah, H., Dewar, R.A.D., MacIntyre, M., Lalany, A., Ruta, M., Marrett, L., Nishri, D.E., McClure, C., Vriends, K.A., Bertrand, C., Louchini, R., Robb, K.I., Stuart-Panko, H., Demers, S., Wright, S., George, J.T., Shen, X., Brockhouse, J.T., O'Brien, D.K., Ward, K.C., Almon, L., Bates, J., Rycroft, R., Mueller, L., Phillips, C., Brown, H., Cromartie, B., Schwartz, A.G., Vigneau, F., MacKinnon, J.A., Wohler, B., Bayakly, A.R., Clarke, C.A., Glaser, S.L., West, D., Green, M.D., Hernandez, B.Y., Johnson, C.J., Jozwik, D., Charlton, M.E., Lynch, C.F., Huang, B., Tucker, T.C., Deapen, D., Liu, L., Hsieh, M.C., Wu, X.C., Stern, K., Gershman, S.T., Knowlton, R.C., Alverson, J., Copeland, G.E., Rogers, D.B., Lemons, D., Williamson, L.L., Hood, M., Hosain, G.M., Rees, J.R., Pawlish, K.S., Stroup, A., Key, C., Wiggins, C., Kahn, A.R., Schymura, M.J., Leung, G., Rao, C., Giljahn, L., Warther, B., Pate, A., Patil, M., Schubert, S.S., Rubertone, J.J., Slack, S.J., Fulton, J.P., Rousseau, D.L., Janes, T.A., Schwartz, S.M., Bolick, S.W., Hurley, D.M., Richards, J., Whiteside, M.A., Nogueira, L.M., Herget, K., Sweeney, C., Martin, J., Wang, S., Harrelson, D.G., Keitheri Cheteri, M.B., Farley, S., Hudson, A.G., Borchers, R., Stephenson, L., Espinoza, J.R., Weir, H.K., Edwards, B.K., Wang, N., Yang, L., Chen, J.S., Song, G.H., Gu, X.P., Zhang, P., Ge, H.M., Zhao, D.L., Zhang, J.H., Zhu, F.D., Tang, J.G., Shen, Y., Wang, J., Li, Q.L., Yang, X.P., Dong, J., Li, W., Cheng, L.P., Chen, J.G., Huang, Q.H., Huang, S.Q., Guo, G.P., Wei, K., Chen, W.Q., Zeng, H., Demetriou, A.V., Pavlou, P., Mang, W.K., Ngan, K.C., Kataki, A.C., Krishnatreya, M., Jayalekshmi, P.A., Sebastian, P., Sapkota, S.D., Verma, Y., Nandakumar, A., Suzanna, E., Keinan-Boker, L., Silverman, B.G., Ito, H., Nakagawa, H., Hattori, M., Kaizaki, Y., Sugiyama, H., Utada, M., Katayama, K., Narimatsu, H., Kanemura, S., Koike, T., Miyashiro, I., Yoshii, M., Oki, I., Shibata, A., Matsuda, T., Nimri, O., Ab Manan, A., Bhoo-Pathy, N., Tuvshingerel, S., Chimedsuren, O., Al Khater, A.H.M., Al-Eid, H., Jung, K.W., Won, Y.J., Chiang, C.J., Lai, M.S., Suwanrungruang, K., Wiangnon, S., Daoprasert, K., Pongnikorn, D., Geater, S.L., Sriplung, H., Eser, S., Yakut, C.I., Hackl, M., Mühlböck, H., Oberaigner, W., Zborovskaya, A.A., Aleinikova, O.V., Henau, K., Van Eycken, L., Dimitrova, N., Valerianova, Z., Šekerija, M., Zvolský, M., Engholm, G., Storm, H., Innos, K., Mägi, M., Malila, N., Seppä, K., Jégu, J., Velten, M., Cornet, E., Troussard, X., Bouvier, A.M., Faivre, J., Guizard, A.V., Bouvier, V., Launoy, G., Arveux, P., Maynadié, M., Mounier, M., Fournier, E., Woronoff, A.S., Daoulas, M., Clavel, J., Le Guyader-Peyrou, S., Monnereau, A., Trétarre, B., Colonna, M., Cowppli-Bony, A., Molinié, F., Bara, S., Degré, D., Ganry, O., Lapôtre-Ledoux, B., Grosclaude, P., Estève, J., Bray, F., Piñeros, M., Sassi, F., Stabenow, R., Eberle, A., Erb, C., Nennecke, A., Kieschke, J., Sirri, E., Kajueter, H., Emrich, K., Zeissig, S.R., Holleczek, B., Eisemann, N., Katalinic, A., Brenner, H., Asquez, R.A., Kumar, V., Ólafsdóttir, E.J., Tryggvadóttir, L., Comber, H., Walsh, P.M., Sundseth, H., Devigili, E., Mazzoleni, G., Giacomin, A., Bella, F., Castaing, M., Sutera, A., Gola, G., Ferretti, S., Serraino, D., Zucchetto, A., Lillini, R., Vercelli, M., Busco, S., Pannozzo, F., Vitarelli, S., Ricci, P., Pascucci, C., Autelitano, M., Cirilli, C., Federico, M., Fusco, M., Vitale, M.F., Usala, M., Cusimano, R., Mazzucco, W., Michiara, M., Sgargi, P., Maule, M.M., Sacerdote, C., Tumino, R., Di Felice, E., Vicentini, M., Falcini, F., Cremone, L., Budroni, M., Cesaraccio, R., Contrino, M.L., Tisano, F., Fanetti, A.C., Maspero, S., Candela, G., Scuderi, T., Gentilini, M.A., Piffer, S., Rosso, S., Sacchetto, L., Caldarella, A., La Rosa, F., Stracci, F., Contiero, P., Tagliabue, G., Dei Tos, A.P., Zorzi, M., Zanetti, R., Baili, P., Berrino, F., Gatta, G., Sant, M., Capocaccia, R., De Angelis, R., Liepina, E., Maurina, A., Smailyte, G., Agius, D., Calleja, N., Siesling, S., Visser, O., Larønningen, S., Møller, B., Dyzmann-Sroka, A., Trojanowski, M., Góźdż, S., Mężyk, R., Grądalska-Lampart, M., Radziszewska, A.U., Didkowska, J.A., Wojciechowska, U., Błaszczyk, J., Kępska, K., Bielska-Lasota, M., Kwiatkowska, K., Forjaz, G., Rego, R.A., Bastos, J., Silva, M.A., Antunes, L., Bento, M.J., Mayer-da-Silva, A., Miranda, A., Coza, D., Todescu, A.I., Valkov, M.Y., Adamcik, J., Safaei Diba, C., Primic-Žakelj, M., Žagar, T., Stare, J., Almar, E., Mateos, A., Quirós, J.R., Bidaurrazaga, J., Larrañaga, N., Díaz García, J.M., Marcos, A.I., Marcos-Gragera, R., Vilardell Gil, M.L., Molina, E., Sánchez, M.J., Franch Sureda, P., Ramos Montserrat, M., Chirlaque, M.D., Navarro, C., Ardanaz, E.E., Moreno-Iribas, C.C., 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Publikováno v: In Gynecologic Oncology February 2017 144(2):396-404

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Autor: Denomme-Pichon A. -S., Bruel A. -L., Duffourd Y., Safraou H., Thauvin-Robinet C., Tran Mau-Them F., Philippe C., Vitobello A., Jean-Marcais N., Moutton S., Thevenon J., Faivre L., Matalonga L., de Boer E., Gilissen C., Hoischen A., Kleefstra T., Pfundt R., de Vries B. B. A., Willemsen M. H., Vissers L. E. L. M., Jackson A., Banka S., Clayton-Smith J., Benetti E., Fallerini C., Renieri A., Ciolfi A., Dallapiccola B., Pizzi S., Radio F. C., Tartaglia M., Ellwanger K., Graessner H., Haack T. B., Zurek B., Havlovicova M., Macek M., Ryba L., Schwarz M., Votypka P., Lopez-Martin E., Posada M., Mencarelli M. A., Rooryck C., Trimouille A., Verloes A., Abbott K. M., Kerstjens M., Martin E. L., Maystadt I., Morleo M., Nigro V., Pinelli M., Riess O., Agathe J. -M. D. S., Santen G. W. E., Thauvin C., Torella A., Vissers L., Zguro K., Boer E. D., Cohen E., Danis D., Gao F., Horvath R., Johari M., Johanson L., Li S., Morsy H., Nelson I., Paramonov I., te Paske I. B. A. W., Robinson P., Savarese M., Steyaert W., Topf A., van der Velde J. K., Vandrovcova J., Ossowski S., Demidov G., Sturm M., Schulze-Hentrich J. M., Schule R., Xu J., Kessler C., Wayand M., Synofzik M., Wilke C., Traschutz A., Schols L., Hengel H., Lerche H., Kegele J., Heutink P., Brunner H., Scheffer H., Hoogerbrugge N., 't Hoen P. A. C., Sablauskas K., de Voer R. M., Kamsteeg E. -J., van de Warrenburg B., van Os N., Paske I. T., Janssen E., Steehouwer M., Yaldiz B., Brookes A. J., Veal C., Gibson S., Maddi V., Mehtarizadeh M., Riaz U., Warren G., Dizjikan F. Y., Shorter T., Straub V., Bettolo C. M., Manera J. D., Hambleton S., Engelhardt K., Alexander E., Peyron C., Pelissier A., Beltran S., Gut I. G., Laurie S., Piscia D., Papakonstantinou A., Bullich G., Corvo A., Fernandez-Callejo M., Hernandez C., Pico D., Lochmuller H., Gumus G., Bros-Facer V., Rath A., Hanauer M., Lagorce D., Hongnat O., Chahdil M., Lebreton E., Stevanin G., Durr A., Davoine C. -S., Guillot-Noel L., Heinzmann A., Coarelli G., Bonne G., Evangelista T., Allamand V., Ben Yaou R., Metay C., Eymard B., Atalaia A., Stojkovic T., Turnovec M., Thomasova D., Kremlikova R. P., Frankova V., Liskova P., Dolezalova P., Parkinson H., Keane T., Freeberg M., Thomas C., Spalding D., Robert G., Costa A., Patch C., Hanna M., Houlden H., Reilly M., Efthymiou S., Cali E., Magrinelli F., Sisodiya S. M., Rohrer J., Muntoni F., Zaharieva I., Sarkozy A., Timmerman V., Baets J., de Vries G., De Winter J., Beijer D., de Jonghe P., Van de Vondel L., De Ridder W., Weckhuysen S., Mutarelli M., Varavallo A., Banfi S., Musacchia F., Piluso G., Ferlini A., Selvatici R., Gualandi F., Bigoni S., Rossi R., Neri M., Aretz S., Spier I., Sommer A. K., Peters S., Oliveira C., Pelaez J. G., Matos A. R., Jose C. S., Ferreira M., Gullo I., Fernandes S., Garrido L., Ferreira P., Carneiro F., Swertz M. A., Johansson L., van der Vries G., Neerincx P. B., Ruvolo D., Kerstjens Frederikse W. S., Zonneveld-Huijssoon E., Roelofs-Prins D., van Gijn M., Kohler S., Metcalfe A., Drunat S., Heron D., Mignot C., Keren B., Lacombe D., Capella G., Valle L., Holinski-Feder E., Laner A., Steinke-Lange V., Cilio M. -R., Carpancea E., Depondt C., Lederer D., Sznajer Y., Duerinckx S., Mary S., Macaya A., Cazurro-Gutierrez A., Perez-Duenas B., Munell F., Jarava C. F., Maso L. B., Marce-Grau A., Colobran R., Hackman P., Udd B., Hemelsoet D., Dermaut B., Schuermans N., Poppe B., Verdin H., Osorio A. N., Depienne C., Roos A., Cordts I., Deschauer M., Striano P., Zara F., Riva A., Iacomino M., Uva P., Scala M., Scudieri P., Basak A. N., Claeys K., Boztug K., Haimel M., W. E G., Ruivenkamp C. A. L., Natera de Benito D., Thompson R., Polavarapu K., Grimbacher B., Zaganas I., Kokosali E., Lambros M., Evangeliou A., Spilioti M., Kapaki E., Bourbouli M., Balicza P., Molnar M. J., De la Paz M. P., Sanchez E. B., Delgado B. M., Alonso Garcia de la Rosa F. J., Schrock E., Rump A., Mei D., Vetro A., Balestrini S., Guerrini R., Chinnery P. F., Ratnaike T., Schon K., Maver A., Peterlin B., Munchau A., Lohmann K., Herzog R., Pauly M., May P., Beeson D., Cossins J., Furini S., Afenjar A., Goldenberg A., Masurel A., Phan A., Dieux-Coeslier A., Fargeot A., Guerrot A. -M., Toutain A., Molin A., Sorlin A., Putoux A., Jouret B., Laudier B., Demeer B., Doray B., Bonniaud B., Isidor B., Gilbert-Dussardier B., Leheup B., Reversade B., Paul C., Vincent-Delorme C., Neiva C., Poirsier C., Quelin C., Chiaverini C., Coubes C., Francannet C., Colson C., Desplantes C., Wells C., Goizet C., Sanlaville D., Amram D., Lehalle D., Genevieve D., Gaillard D., Zivi E., Sarrazin E., Steichen E., Schaefer E., Lacaze E., Jacquemin E., Bongers E., Kilic E., Colin E., Giuliano F., Prieur F., Laffargue F., Morice-Picard F., Petit F., Cartault F., Feillet F., Baujat G., Morin G., Diene G., Journel H., Perthus I., Lespinasse J., Alessandri J. -L., Amiel J., Martinovic J., Delanne J., Albuisson J., Lambert L., Perrin L., Ousager L. B., Van Maldergem L., Pinson L., Ruaud L., Samimi M., Bournez M., Bonnet-Dupeyron M. N., Vincent M., Jacquemont M. -L., Cordier-Alex M. -P., Gerard-Blanluet M., Willems M., Spodenkiewicz M., Doco-Fenzy M., Rossi M., Renaud M., Fradin M., Mathieu M., Holder-Espinasse M. H., Houcinat N., Hanna N., Leperrier N., Chassaing N., Philip N., Boute O., Van Kien P. K., Parent P., Bitoun P., Sarda P., Vabres P., Jouk P. -S., Touraine R., El Chehadeh S., Whalen S., Marlin S., Passemard S., Grotto S., Bellanger S. A., Blesson S., Nambot S., Naudion S., Lyonnet S., Odent S., Attie-Bitach T., Busa T., Drouin-Garraud V., Layet V., Bizaoui V., Cusin V., Capri Y., Alembik Y.

Publikováno v: Genetics in Medicine, 25
GENETICS IN MEDICINE
Solve-RD DITF-ITHACA 2023, ' A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, pp. 100018 . https://doi.org/10.1016/j.gim.2023.100018
Genetics in Medicine, 25, 4

Purpose: Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on Clin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::595c5dc88c1376b42f99283c2dea407e
https://doi.org/10.1016/j.gim.2023.100018