Umbilical Cord Mesenchymal Stem Cells: The New Gold Standard for Mesenchymal Stem Cell-Based Therapies? von El Omar, Reine, Beroud, Jacqueline, Stoltz, Jean-Francois, Menu, Patrick, Velot, Emilie, Decot, Veronique

Volltext

Différenciation de cellules mésenchymateuses périnatales vers un phénotype musculaire lisse : base de la construction d'un feuillet vasculaire von Beroud, Jacqueline

Volltext bestellen

Mapping the differences in care for 5,000 Spinal Muscular Atrophy patients, a survey of 24 national registries in North America, Australasia and Europe von Bladen, Catherine L., Thompson, Rachel, Jackson, Jacqueline M., Garland, Connie, Wegel, Claire, Ambrosini, Anna, Pisano, Paolo, Walter, Maggie C., Schreiber, Olivia, Lusakowska, Anna, Jedrzejowska, Maria, Kostera-Pruszczyk, Anna, van der Pol, Ludo, Wadman, Renske I., Gredal, Ole, Karaduman, Ayse, Topaloglu, Haluk, Yilmaz, Oznur, Matyushenko, Vitaliy, Rasic, Vedrana Milic, Kosac, Ana, Karcagi, Veronika, Garami, Marta, Herczegfalvi, Agnes, Monges, Soledad, Moresco, Angelica, Chertkoff, Lilien, Chamova, Teodora, Guergueltcheva, Velina, Butoianu, Niculina, Craiu, Dana, Korngut, Lawrence, Campbell, Craig, Haberlova, Jana, Strenkova, Jana, Alejandro, Moises, Jimenez, Alatorre, Ortiz, Genaro Gabriel, Enriquez, Gracia Viviana Gonzalez, Rodrigues, Miriam, Roxburgh, Richard, Dawkins, Hugh, Youngs, Leanne, Lahdetie, Jaana, Angelkova, Natalija, Saugier-Veber, Pascal, Cuisset, Jean-Marie, Bloetzer, Clemens, Jeannet, Pierre-Yves, Klein, Andrea, Nascimento, Andres, Tizzano, Eduardo, Salgado, David, Mercuri, Eugenio, Sejersen, Thomas, Kirschner, Jan, Rafferty, Karen, Straub, Volker, Bushby, Kate, Verschuuren, Jan, Beroud, Christophe, Lochmüller, Hanns

Volltext

The TREAT-NMD DMD Global Database: Analysis of More than 7,000 Duchenne Muscular Dystrophy Mutations von Bladen, Catherine L., Salgado, David, Monges, Soledad, Foncuberta, Maria E., Kekou, Kyriaki, Kosma, Konstantina, Dawkins, Hugh, Lamont, Leanne, Roy, Anna J., Chamova, Teodora, Guergueltcheva, Velina, Chan, Sophelia, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Wang, Jen, Barišić, Nina, Brabec, Petr, Lahdetie, Jaana, Walter, Maggie C., Schreiber-Katz, Olivia, Karcagi, Veronika, Garami, Marta, Viswanathan, Venkatarman, Bayat, Farhad, Buccella, Filippo, Kimura, En, Koeks, Zaïda, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Kostera-Pruszczyk, Anna, Zimowski, Janusz, Santos, Rosário, Neagu, Elena, Artemieva, Svetlana, Rasic, Vedrana Milic, Vojinovic, Dina, Posada, Manuel, Bloetzer, Clemens, Jeannet, Pierre-Yves, Joncourt, Franziska, Díaz-Manera, Jordi, Gallardo, Eduard, Karaduman, A. Ayşe, Topaloğlu, Haluk, El Sherif, Rasha, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly L., Bellgard, Matthew I., Kirschner, Jan, Flanigan, Kevin M., Straub, Volker, Bushby, Kate, Verschuuren, Jan, Aartsma-Rus, Annemieke, Béroud, Christophe, Lochmüller, Hanns

Volltext

Théâtre et pouvoir von Adde, Amélie, Adler, Heidrun, Alcántara Mejía, José Ramón, Alexen, Edgar, Aracil Varón, Beatriz, Araiza H, Elizabeth, Barrientos Tecún, Dante, Bellini, Giuseppe, Bixler, Jacqueline E, Calva Hernandez, Laura, Caplán, Raúl, Carballido, Emilio, Castillo de Berchenko, Adriana, Chen Sham, Jorge, Clerc, Isabelle, Crastes, Fabienne, Cucuel †, Madeleine, Diago, Nel, Diaz, Jean-Antoine, Egger, Carole, Ezquerro, Milagros, Flores Hernandez, Isabel Cristina, Frischmann, Donald H, Gac-Artigas, Priscilla, Galéra, Marie, García, Óscar Armando, García Arteaga A, Ricardo, Gomez, Gérard, Ibañez, Isabel, Lara de Alengrin, Alba, Lavou Zoungbo, Victorien, Leos Garza, Virgilio, Lopez, Pierre, Mancisidor, Alexandra G, Marrero, Teresa, Martinez Thomas, Monique, Maurizi, Françoise, Meyran, Daniel, Michel, Carole, Mohssine, Assia, Morestin, Marc, Murillo, Brígida, Nouhaud, Dorita, Obregón, Osvaldo, Ortiz Bullé Goyri, Alejandro, Østergaard, Ane-Grethe, Padrón-León, Bárbara A, Pellettieri, Osvaldo, Peña Doria, Olga Martha, Perassi, Emilia, Pouquet, Marjorie, Prado, José-Miguel, Quintas, Alicia, Rabaté, Jean-Claude, Raffi Beroud, Catherine, Reck, Isabelle, Ríos Everardo, Sara, Rivera, Octavio, Rodriguez, Antoine, Ruíz, María Del Carmen, Salgues, Marie, Sánchez Robles, Guadalupe, Schmidhuber de la Mora, Guillermo, Schneider †, Luis Mario, Soriano, Michèle, Suréda, Francis, Tahan, Halima, Tauzin Castellanos, Isabelle, Tchalou Tchalou, Pierette, Tellez, Jesús, Thion Soriano-Mollá, Dolores, Torres J., Diana A, Triana, José, Vanuxem, Christelle, Vasserot, Christilla, Vazquez de Castro, Isabel, Villaceque, Sol, Viveros, Germán, Woodyard, George

Volltext

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia von Bladen, Catherine L., Rafferty, Karen, Straub, Volker, Monges, Soledad, Moresco, Angélica, Dawkins, Hugh, Roy, Anna, Chamova, Teodora, Guergueltcheva, Velina, Korngut, Lawrence, Campbell, Craig, Dai, Yi, Barišić, Nina, Kos, Tea, Brabec, Petr, Rahbek, Jes, Lahdetie, Jaana, Tuffery-Giraud, Sylvie, Claustres, Mireille, Leturcq, France, Ben Yaou, Rabah, Walter, Maggie C., Schreiber, Olivia, Karcagi, Veronika, Herczegfalvi, Agnes, Viswanathan, Venkatarman, Bayat, Farhad, de la caridad Guerrero Sarmiento, Isis, Ambrosini, Anna, Ceradini, Francesca, Kimura, En, van den Bergen, Janneke C., Rodrigues, Miriam, Roxburgh, Richard, Lusakowska, Anna, Oliveira, Jorge, Santos, Rosário, Neagu, Elena, Butoianu, Niculina, Artemieva, Svetlana, Rasic, Vedrana Milic, Posada, Manuel, Palau, Francesc, Lindvall, Björn, Bloetzer, Clemens, Karaduman, Ayşe, Topaloğlu, Haluk, Inal, Serap, Oflazer, Piraye, Stringer, Angela, Shatillo, Andriy V., Martin, Ann S., Peay, Holly, Flanigan, Kevin M., Salgado, David, von Rekowski, Brigitta, Lynn, Stephen, Heslop, Emma, Gainotti, Sabina, Taruscio, Domenica, Kirschner, Jan, Verschuuren, Jan, Bushby, Kate, Béroud, Christophe, Lochmüller, Hanns

Volltext

The REDCap consortium: Building an international community of software platform partners von Harris, Paul A., Taylor, Robert, Minor, Brenda L., Elliott, Veida, Fernandez, Michelle, O'Neal, Lindsay, McLeod, Laura, Delacqua, Giovanni, Delacqua, Francesco, Kirby, Jacqueline, Duda, Stephany N.

Volltext

Exome sequencing reveals a high prevalence of BRCA1 and BRCA2 founder variants in a diverse population-based biobank von Abul-Husn, Noura S, Soper, Emily R, Odgis, Jacqueline A, Cullina, Sinead, Bobo, Dean, Moscati, Arden, Rodriguez, Jessica E, Loos, Ruth J F, Cho, Judy H, Belbin, Gillian M, Suckiel, Sabrina A, Kenny, Eimear E

Volltext

First glance at the molecular etiology of hearing loss in French-Canadian families from Saguenay-Lac-Saint-Jean’s founder population von Cruz Marino, Tania, Tardif, Jessica, Leblanc, Josianne, Lavoie, Janie, Morin, Pascal, Harvey, Michel, Thomas, Marie-Jacqueline, Pratte, Annabelle, Braverman, Nancy

Volltext

Maternal carrier screening with single-gene NIPS provides accurate fetal risk assessments for recessive conditions von Hoskovec, Jennifer, Hardisty, Emily E., Talati, Asha N., Carozza, Jacqueline A., Wynn, Julia, Riku, Shan, ten Bosch, John R., Vora, Neeta L.

Volltext

Fusion Cell Markers in Circulating Tumor Cells from Patients with High-Grade Ovarian Serous Carcinoma von Ruano, Anna Paula Carreta, Gadelha Guimarães, Andrea Paiva, Braun, Alexcia C, Flores, Bianca C T C P, Tariki, Milena Shizue, Abdallah, Emne A, Torres, Jacqueline Aparecida, Nunes, Diana Noronha, Tirapelli, Bruna, de Lima, Vladmir C Cordeiro, Fanelli, Marcello Ferretti, Colombo, Pierre-Emmanuel, da Costa, Alexandre André Balieiro Anastácio, Alix-Panabières, Catherine, Chinen, Ludmilla Thomé Domingos

Volltext

Aberrant splicing in transgenes containing introns, exons, and V5 epitopes: lessons from developing an FSHD mouse model expressing a D4Z4 repeat with flanking genomic sequences von Ansseau, Eugénie, Domire, Jacqueline S, Wallace, Lindsay M, Eidahl, Jocelyn O, Guckes, Susan M, Giesige, Carlee R, Pyne, Nettie K, Belayew, Alexandra, Harper, Scott Q

Volltext

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants von Bommireddipalli, Shobhana, Ades, Lesley, Archibald, Alison D., Berman, Yemima, Bojadzieva, Jasmina, Brown, Natasha J., Bryen, Samantha J., Engel, Amanda, Ewans, Lisa J., Fennell, Andrew, Freckmann, Mary-Louise, Gear, Russell, Goel, Himanshu, Goh, Shuxiang, Harraway, James, Higgins, Megan, Ho, Gladys, Hunter, Matthew F., Joshi, Himanshu, Krzesinski, Emma, Leventer, Richard J., Macaskill, Steven, McCarthy, Hugh J., McLean, Alison, Patel, Chirag, Regan, Matthew, Schindler, Tim, Tantsis, Esther, Tchan, Michel C., van Spaendonck-Zwarts, Karin, White, Susan M., Williams, Mark G., Wright, Dale C., Yap, Patrick, Yeung, Alison, Jones, Kristi J., Cooper, Sandra T., Arts, Peer, Barnett, Christopher, Beshay, Victoria, Blombery, Piers, Boggs, Kirsten, Branford, Susan, Bryen, Samantha J., Canson, Daffodil, Chew, Edward, Chong, Belinda, Chung, Seo-Kyung, Clark, Mike, Compton, Alison, Corbett, Mark, Davis, Mark R., Dudding, Tracy, Ewans, Lisa J., Eyras, Eduardo, Fellowes, Andrew, Field, Michael, Freckmann, Mary-Louise, Gaff, Clara, Galea, Melanie, Hanna, Bernadette, Harraway, James, Hayashi, Rippei, Henderson, Alex, Jackson, Matilda, Jones, Kristi J., Wong, Justin Jong-Leong, Joshi, Himanshu, Krzesinski, Emma, Kumble, Smitha, Laing, Nigel, Lau, Chiyan, Lee, Eric, Lundie, Ben, Mallawaarachchi, Amali, McLean, Alison, Meldrum, Cliff, Mina, Kym, Mowat, David, Oshlack, Alicia, Parsons, Michael, Patel, Chirag, Pinner, Jason R., Quinn, Michael, Ravenscroft, Gina, Regan, Matthew, Ronan, Anne, Sadedin, Simon, Schreiber, Andreas, Scott, Rodney, Simons, Cas, Smyth, Renee, Thompson, Bryony A., Thorburn, David, Trent, Ronald, Tudini, Emma, Wallis, Mathew, Wilson, Meredith J., Winship, Ingrid, Yeung, Alison

Volltext

TRAPPC11 and GOSR2 mutations associate with hypoglycosylation of α-dystroglycan and muscular dystrophy von Larson, Austin A, Baker, 2nd, Peter R, Milev, Miroslav P, Press, Craig A, Sokol, Ronald J, Cox, Mary O, Lekostaj, Jacqueline K, Stence, Aaron A, Bossler, Aaron D, Mueller, Jennifer M, Prematilake, Keshika, Tadjo, Thierry Fotsing, Williams, Charles A, Sacher, Michael, Moore, Steven A

Volltext

Comprehensive genetic screening: The prevalence of maturity‐onset diabetes of the young gene variants in a population‐based childhood diabetes cohort von Johnson, Stephanie R., Ellis, Jonathan J., Leo, Paul J., Anderson, Lisa K., Ganti, Uma, Harris, Jessica E., Curran, Jacqueline A., McInerney‐Leo, Aideen M., Paramalingam, Nirubasini, Song, Xiaoxia, Conwell, Louise S., Harris, Mark, Jones, Timothy W., Brown, Matthew A., Davis, Elizabeth A., Duncan, Emma L.

Volltext

Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate a... von Jackson, Gail C., Mittaz-Crettol, Laureane, Taylor, Jacqueline A., Mortier, Geert R., Spranger, Juergen, Zabel, Bernhard, Le Merrer, Martine, Cormier-Daire, Valerie, Hall, Christine M., Offiah, Amaka, Wright, Michael J., Savarirayan, Ravi, Nishimura, Gen, Ramsden, Simon C., Elles, Rob, Bonafe, Luisa, Superti-Furga, Andrea, Unger, Sheila, Zankl, Andreas, Briggs, Michael D.

Volltext

Identification and in-silico characterization of splice-site variants from a large cardiogenetic national registry von Rayani, Kaveh, Davies, Brianna, Cheung, Matthew, Comber, Drake, Roberts, Jason D, Tadros, Rafik, Green, Martin S, Healey, Jeffrey S, Simpson, Christopher S, Sanatani, Shubhayan, Steinberg, Christian, MacIntyre, Ciorsti, Angaran, Paul, Duff, Henry, Hamilton, Robert, Arbour, Laura, Leather, Richard, Seifer, Colette, Fournier, Anne, Atallah, Joseph, Kimber, Shane, Makanjee, Bhavanesh, Alqarawi, Wael, Cadrin-Tourigny, Julia, Joza, Jacqueline, Gardner, Martin, Talajic, Mario, Bagnall, Richard D, Krahn, Andrew D, Laksman, Zachary W M

Volltext

Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction von den Hoed, Joery, de Boer, Elke, Voisin, Norine, Dingemans, Alexander J.M., Guex, Nicolas, Wiel, Laurens, Nellaker, Christoffer, Amudhavalli, Shivarajan M., Banka, Siddharth, Bena, Frederique S., Ben-Zeev, Bruria, Bonagura, Vincent R., Bruel, Ange-Line, Brunet, Theresa, Brunner, Han G., Chew, Hui B., Chrast, Jacqueline, Cimbalistienė, Loreta, Coon, Hilary, Délot, Emmanuèlle C., Démurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Donnai, Dian, Dyment, David A., Elpeleg, Orly, Faivre, Laurence, Gilissen, Christian, Granger, Leslie, Haber, Benjamin, Hachiya, Yasuo, Abedi, Yasmin Hamzavi, Hanebeck, Jennifer, Hehir-Kwa, Jayne Y., Horist, Brooke, Itai, Toshiyuki, Jackson, Adam, Jewell, Rosalyn, Jones, Kelly L., Joss, Shelagh, Kashii, Hirofumi, Kato, Mitsuhiro, Kattentidt-Mouravieva, Anja A., Kok, Fernando, Kotzaeridou, Urania, Krishnamurthy, Vidya, Kučinskas, Vaidutis, Kuechler, Alma, Lavillaureix, Alinoë, Liu, Pengfei, Manwaring, Linda, Matsumoto, Naomichi, Mazel, Benoît, McWalter, Kirsty, Meiner, Vardiella, Mikati, Mohamad A., Miyatake, Satoko, Mizuguchi, Takeshi, Moey, Lip H., Mohammed, Shehla, Mor-Shaked, Hagar, Mountford, Hayley, Newbury-Ecob, Ruth, Odent, Sylvie, Orec, Laura, Osmond, Matthew, Palculict, Timothy B., Parker, Michael, Petersen, Andrea K., Pfundt, Rolph, Preikšaitienė, Eglė, Radtke, Kelly, Ranza, Emmanuelle, Rosenfeld, Jill A., Santiago-Sim, Teresa, Schwager, Caitlin, Sinnema, Margje, Snijders Blok, Lot, Spillmann, Rebecca C., Stegmann, Alexander P.A., Thiffault, Isabelle, Tran, Linh, Vaknin-Dembinsky, Adi, Vedovato-dos-Santos, Juliana H., Schrier Vergano, Samantha A., Vilain, Eric, Vitobello, Antonio, Wagner, Matias, Waheeb, Androu, Willing, Marcia, Zuccarelli, Britton, Kini, Usha, Newbury, Dianne F., Kleefstra, Tjitske, Reymond, Alexandre, Fisher, Simon E., Vissers, Lisenka E.L.M.

Volltext

Cyclophosphamide Dose Intensification May Circumvent Anthracycline Resistance of p53 Mutant Breast Cancers von Lehmann‐Che, Jacqueline, André, Fabrice, Desmedt, Christine, Mazouni, Chafika, Giacchetti, Sylvie, Turpin, Elisabeth, Espié, Marc, Plassa, Louis‐François, Marty, Michel, Bertheau, Philippe, Sotiriou, Christos, Piccart, Martine, Symmans, W. Fraser, Pusztai, Lajos, Thé, Hugues

Volltext

A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1 von Rodríguez Cruz, Pedro M, Ravenscroft, Gianina, Natera, Daniel, Carr, Aisling, Manzur, Adnan, Liu, Wei Wei, Vella, Norbert R, Jericó, Ivonne, Gonzalez-Quereda, Lidia, Gallano, Pia, Montalto, Simon Attard, Davis, Mark R, Lamont, Phillipa J, Laing, Nigel G, Bourque, Pierre, Nascimento, Andres, Muntoni, Francesco, Polavarapu, Kiran, Lochmüller, Hanns, Palace, Jacqueline, Beeson, David

Volltext