Zobrazeno 1 - 10
of 13
pro vyhledávání: '"Leheup, Bruno"'
Autor:
Ravel, Jean-Marie, Renaud, Mathilde, Muller, Jean, Becker, Aurélie, Renard, Émeline, Remen, Thomas, Lefort, Geneviève, Dexheimer, Mylène, Jonveaux, Philippe, Leheup, Bruno, Bonnet, Céline, Lambert, Laëtitia
Additional file 1: FigureS1. Array-CGH interpretation workflow. Figure S2. Flowchart indicating all samples included in our study. aCGH: array comparative genomic hybridization; CNV: copy number variation; VUS:variant of uncertain significance. Annot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::036306216bba48bbf9d8667e02bd7566
Autor:
Margot, Henri, Boursier, Guilaine, Duflos, Claire, Sanchez, Elodie, Amiel, Jeanne, Andrau, Jean-Christophe, Arpin, Stéphanie, Brischoux-Boucher, Elise, Boute, Odile, Burglen, Lydie, Caille, Charlotte, Capri, Yline, Collignon, Patrick, Conrad, Solène, CORMIER-DAIRE, Valerie, Delplancq, Geoffroy, Dieterich, Klaus, Dollfus, Hélène, Fradin, Mélanie, Faivre, Laurence, Fernandes, Helder, Francannet, Christine, Gatinois, Vincent, Gérard, Marion, Goldenberg, Alice, Ghoumid, Jamal, Grotto, Sarah, Guerrot, Anne-Marie, Guichet, Agnès, Isidor, Bertrand, Jacquemont, Marie-Line, Julia, Sophie, Philip, K, Legendre, Marine, Le Quan Sang, K., Leheup, Bruno, Lyonnet, Stanislas, Magry, Virginie, Manouvrier, Sylvie, Martin, Dominique, Morel, Godelieve, Munnich, Arnold, Naudion, Sophie, Odent, Sylvie, Perrin, Laurence, Petit, Florence, Philip, Nicole, Rio, Marlène, Robbe, Julie, Rossi, Massimiliano, Sarrazin, Elisabeth, Toutain, Annick, Van Gils, Julien, Vera, Gabriella, Verloes, Alain, Weber, Sacha, Whalen, Sandra, Sanlaville, Damien, Lacombe, Didier, Aladjidi, Nathalie, Geneviève, David, Khau Van Kien, Philippe, Van Gils, Julie
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (1), pp.181-188. ⟨10.1038/s41436-019-0623-x⟩
Genetics in Medicine, 2020, 22 (1), pp.181-188. ⟨10.1038/s41436-019-0623-x⟩
Genetics in Medicine, Nature Publishing Group, 2020, 22 (1), pp.181-188. ⟨10.1038/s41436-019-0623-x⟩
Genetics in Medicine, 2020, 22 (1), pp.181-188. ⟨10.1038/s41436-019-0623-x⟩
Kabuki syndrome (KS) (OMIM 147920 and 300867) is a rare genetic disorder characterized by specific facial features, intellectual disability, and various malformations. Immunopathological manifestations seem prevalent and increase the morbimortality.
Autor:
Pacot, Laurence, Vidaud, Dominique, Sabbagh, Audrey, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Morice-Picard, Fanny, Sigaudy, Sabine, Glazunova, Olga, Damaj, Lena, Layet, Valérie, Quelin, Chloé, Gilbert-Dussardier, Brigitte, Audic, Frédérique, Dollfus, Hélène, Guerrot, Anne-Marie, Lespinasse, James, Julia, Sophie, Vantyghem, Marie-Christine, Drouard, Magali, Lackmy, Marilyn, Leheup, Bruno, Alembik, Yves, Lemaire, Alexia, Nitschké, Patrick, Petit, Florence, Coeslier, Anne Dieux, Mutez, Eugénie, Taieb, Alain, Fradin, Mélanie, Capri, Yline, Nasser, Hala, Ruaud, Lyse, Dauriat, Benjamin, Bourthoumieu, Sylvie, Geneviève, David, Audebert-Bellanger, Séverine, Nizon, Mathilde, Stoeva, Radka, Hickman, Geoffroy, Nicolas, Gaël, Mazereeuw-Hautier, Juliette, Jannic, Arnaud, Ferkal, Salah, Parfait, Béatrice, Vidaud, Michel, Network, members of the NF France, Wolkenstein, Pierre, Pasmant, Eric
Publikováno v:
Cancers, Vol 13, Iss 2963, p 2963 (2021)
Cancers
Volume 13
Issue 12
Cancers
Volume 13
Issue 12
Complete deletion of the NF1 gene is identified in 5–10% of patients with neurofibromatosis type 1 (NF1). Several studies have previously described particularly severe forms of the disease in NF1 patients with deletion of the NF1 locus, but compreh
Autor:
Reinthaler, Eva M., Lal, Dennis, Lebon, Sebastien, Hildebrand, Michael S., Dahl, Hans-Henrik M., Regan, Brigid M., Feucht, Martha, Steinböck, Hannelore, Neophytou, Birgit, Ronen, Gabriel M., Roche, Laurian, Gruber-Sedlmayr, Ursula, Geldner, Julia, Haberlandt, Edda, Hoffmann, Per, Herms, Stefan, Gieger, Christian, Waldenberger, Melanie, Franke, Andre, Wittig, Michael, Schoch, Susanne, Becker, Albert J., Hahn, Andreas, Männik, Katrin, Toliat, Mohammad R., Winterer, Georg, Lerche, Holger, Nürnberg, Peter, Mefford, Heather, Scheffer, Ingrid E., Berkovic, Samuel F., Beckmann, Jacques S., Sander, Thomas, Jacquemont, Sebastien, Reymond, Alexandre, Zimprich, Fritz, Neubauer, Bernd A., Neubauer, Bernd, Mörzinger, Martina, Suls, Arvid, Weckhuysen, Sarah, Claes, Lieve, Deprez, Liesbet, Smets, Katrien, Van Dyck, Tine, Deconinck, Tine, De Jonghe, Peter, Møller, Rikke S., Klitten, Laura L., Hjalgrim, Helle, Campus, Kiel, Helbig, Ingo, Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Stephani, Ulrich, Trucks, Holger, Elger, Christian E., Kleefuß-Lie, Ailing A., Kunz, Wolfram S., Surges, Rainer, Gaus, Verena, Janz, Dieter, Schmitz, Bettina, Rosenow, Felix, Klein, Karl Martin, Reif, Philipp S., Oertel, Wolfgang H., Hamer, Hajo M., Becker, Felicitas, Weber, Yvonne, Koeleman, Bobby P.C., de Kovel, Carolien, Lindhout, Dick, Ameil, Agnès, Andrieux, Joris, Bouquillon, Sonia, Boute, Odile, de Flandre, Jeanne, Cuisset, Jean Marie, Cuvellier, Jean-Christophe, Salengro, Roger, David, Albert, de Vries, Bert, Delrue, Marie-Ange, Doco-Fenzy, Martine, Fernandez, Bridget A., Heron, Delphine, Keren, Boris, Lebel, Robert, Leheup, Bruno, Lewis, Suzanne, Mencarelli, Maria Antonietta, Mignot, Cyril, Minet, Jean-Claude, Moerman, Alexandre, Morice-Picard, Fanny, Mucciolo, Mafalda, Ounap, Katrin, Pasquier, Laurent, Petit, Florence, Ragona, Francesca, Rajcan-Separovic, Evica, Renieri, Alessandra, Rieubland, Claudine, Sanlaville, Damien, Sarrazin, Elisabeth, Shen, Yiping, van Haelst, Mieke, Silfhout, Anneke Vulto-van
Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______805::e74c7afdb66a96703aaca984fd8659ca
http://doc.rero.ch/record/291490/files/ddu306.pdf
http://doc.rero.ch/record/291490/files/ddu306.pdf
Autor:
Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, von Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, van Haelst, Mieke M.
Publikováno v:
Human Genetics, 136(4), 463. Springer Verlag
Human Genetics, 136(4), 463-479. Springer Verlag
Depienne, C, Nava, C, Keren, B, Heide, S, Rastetter, A, Passemard, S, Chantot-Bastaraud, S, Moutard, M L, Agrawal, P B, VanNoy, G, Stoler, J M, Amor, D J, Billette de Villemeur, T, Doummar, D, Alby, C, Cormier-Daire, V, Garel, C, Marzin, P, Scheidecker, S, de Saint-Martin, A, Hirsch, E, Korff, C, Bottani, A, Faivre, L, Verloes, A, Orzechowski, C, Burglen, L, Leheup, B, Roume, J, Andrieux, J, Sheth, F, Datar, C, Parker, M J, Pasquier, L, Odent, S, Naudion, S, Delrue, M A, Le Caignec, C, Vincent, M, Isidor, B, Renaldo, F, Stewart, F, Toutain, A, Koehler, U, Häckl, B, von Stülpnagel, C, Kluger, G, Møller, R S, Pal, D, van Haelst, M M & DDD Study 2017, ' Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU ', Human Genetics, vol. 136, no. 4, pp. 463-479 . https://doi.org/10.1007/s00439-017-1772-0
Human Genetics, 136(4), 463-479. Springer Verlag
Depienne, C, Nava, C, Keren, B, Heide, S, Rastetter, A, Passemard, S, Chantot-Bastaraud, S, Moutard, M L, Agrawal, P B, VanNoy, G, Stoler, J M, Amor, D J, Billette de Villemeur, T, Doummar, D, Alby, C, Cormier-Daire, V, Garel, C, Marzin, P, Scheidecker, S, de Saint-Martin, A, Hirsch, E, Korff, C, Bottani, A, Faivre, L, Verloes, A, Orzechowski, C, Burglen, L, Leheup, B, Roume, J, Andrieux, J, Sheth, F, Datar, C, Parker, M J, Pasquier, L, Odent, S, Naudion, S, Delrue, M A, Le Caignec, C, Vincent, M, Isidor, B, Renaldo, F, Stewart, F, Toutain, A, Koehler, U, Häckl, B, von Stülpnagel, C, Kluger, G, Møller, R S, Pal, D, van Haelst, M M & DDD Study 2017, ' Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU ', Human Genetics, vol. 136, no. 4, pp. 463-479 . https://doi.org/10.1007/s00439-017-1772-0
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::2a207c517fc2efe84efbdbbffc936e1a
https://dspace.library.uu.nl/handle/1874/349542
https://dspace.library.uu.nl/handle/1874/349542
Autor:
Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B, VanNoy, Grace, Stoler, Joan M, Amor, David J, Billette de Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, de Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joelle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J, Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Verbeek, Nienke E, van Haelst, Mieke M, de Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, van Haaften, Gijs, DDD Study
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_____10691::1df560d0d7158ebcd1184c29e435fa7f
https://dspace.library.uu.nl/handle/1874/349542
https://dspace.library.uu.nl/handle/1874/349542
Autor:
Depienne, Christel, Nava, Caroline, Keren, Boris, Heide, Solveig, Rastetter, Agnès, Passemard, Sandrine, Chantot-Bastaraud, Sandra, Moutard, Marie-Laure, Agrawal, Pankaj B., VanNoy, Grace, Stoler, Joan M., Amor, David J., Villemeur, Thierry, Doummar, Diane, Alby, Caroline, Cormier-Daire, Valérie, Garel, Catherine, Marzin, Pauline, Scheidecker, Sophie, De Saint-Martin, Anne, Hirsch, Edouard, Korff, Christian, Bottani, Armand, Faivre, Laurence, Verloes, Alain, Orzechowski, Christine, Burglen, Lydie, Leheup, Bruno, Roume, Joëlle, Andrieux, Joris, Sheth, Frenny, Datar, Chaitanya, Parker, Michael J., Pasquier, Laurent, Odent, Sylvie, Naudion, Sophie, Delrue, Marie-Ange, Le Caignec, Cédric, Vincent, Marie, Isidor, Bertrand, Renaldo, Florence, Stewart, Fiona, Toutain, Annick, Koehler, Udo, Häckl, Birgit, Stülpnagel, Celina, Kluger, Gerhard, Møller, Rikke S., Pal, Deb, Jonson, Tord, Soller, Maria, Verbeek, Nienke E., Haelst, Mieke M., Kovel, Carolien, Koeleman, Bobby, Monroe, Glen, Haaften, Gijs, Study, DDD, Attie-Bitach, Tania, Boutaud, Lucile, Héron, Delphine, Mignot, Cyril
Publikováno v:
Human Genetics, Vol. 136, No 4 (2017) pp. 463-479
Human Genetics
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
Human Genetics, Springer Verlag, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
Human Genetics, 2017, 136 (4), pp.463-479. 〈10.1007/s00439-017-1772-0〉
Human Genetics
Human Genetics, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
Human Genetics, Springer Verlag, 2017, 136 (4), pp.463-479. ⟨10.1007/s00439-017-1772-0⟩
Human Genetics, 2017, 136 (4), pp.463-479. 〈10.1007/s00439-017-1772-0〉
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d21a195e6c17d665f3e5b666f16c4001
https://archive-ouverte.unige.ch/unige:107723
https://archive-ouverte.unige.ch/unige:107723
Autor:
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, Serena, Minoux, Maryline, Jung, Sophie, Obry, Frédéric, Vogt, Vincent, Davideau, Jean-Luc, Davit-Béal, 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, Alloussi, Mustapha El, 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, Bloch-Zupan, Agnès
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2016, 53 (2), pp.98-110. ⟨10.1136/jmedgenet-2015-103302⟩
Journal of Medical Genetics, 2016, 53 (2), pp.98--110. ⟨10.1136/jmedgenet-2015-103302⟩
Journal of Medical Genetics, 2016, 53 (2), pp.98--110. 〈10.1136/jmedgenet-2015-103302〉
Journal of Medical Genetics, 2016, 53 (2), pp.98-110. ⟨10.1136/jmedgenet-2015-103302⟩
Journal of Medical Genetics, BMJ Publishing Group, 2016, 53 (2), pp.98--110. ⟨10.1136/jmedgenet-2015-103302⟩
Journal of Medical Genetics, BMJ Publishing Group, 2016, 53 (2), pp.98-110. ⟨10.1136/jmedgenet-2015-103302⟩
Journal of Medical Genetics, 2016, 53 (2), pp.98--110. ⟨10.1136/jmedgenet-2015-103302⟩
Journal of Medical Genetics, 2016, 53 (2), pp.98--110. 〈10.1136/jmedgenet-2015-103302〉
Journal of Medical Genetics, 2016, 53 (2), pp.98-110. ⟨10.1136/jmedgenet-2015-103302⟩
Journal of Medical Genetics, BMJ Publishing Group, 2016, 53 (2), pp.98--110. ⟨10.1136/jmedgenet-2015-103302⟩
BACKGROUND: Orodental diseases include several clinically and genetically heterogeneous disorders that can present in isolation or as part of a genetic syndrome. Due to the vast number of genes implicated in these disorders, establishing a molecular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::577bc8584971b1992ef43c06e09ac9c7
https://hal.archives-ouvertes.fr/hal-02517086
https://hal.archives-ouvertes.fr/hal-02517086
Autor:
Stoetzel, Corinne, Laurier, Virginie, Davis, Erica E, Muller, Jean, Rix, Suzanne, Badano, José L, Leitch, Carmen C, Salem, Nabiha, Chouery, Eliane, Corbani, Sandra, Jalk, Nadine, Vicaire, Serge, Sarda, Pierre, Hamel, Christian, Lacombe, Didier, Holder, Muriel, Odent, Sylvie, Holder, Susan, Brooks, Alice S, Elcioglu, Nursel H, Da Silva, Eduardo, Rossillion, Béatrice, Sigaudy, Sabine, de Ravel, Thomy J L, Lewis, Richard Alan, Leheup, Bruno, Verloes, Alain, Amati-Bonneau, Patrizia, Mégarbané, André, Poch, Olivier, Bonneau, Dominique, Beales, Philip L, Mandel, Jean-Louis, Katsanis, Nicholas, Dollfus, Hélène
Publikováno v:
Nature Genetics
Nature Genetics, Nature Publishing Group, 2006, 38 (5), pp.521-4. ⟨10.1038/ng1771⟩
Nature Genetics, 38(5), 521-524. Nature Publishing Group
Nature Genetics, Nature Publishing Group, 2006, 38 (5), pp.521-4. ⟨10.1038/ng1771⟩
Nature Genetics, 38(5), 521-524. Nature Publishing Group
International audience; Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy. Although nine BBS genes have been cloned, they explain only 40-50% of the total mutational load. Here we report a major new BBS locus, BBS10, that encodes
Autor:
Böhm, Johann, Biancalana, Valérie, Dechene, Elizabeth T, Bitoun, Marc, Pierson, Christophe, Schaefer, Elise, Karasoy, Hatice, Dempsey, Melissa A, Klein, Fabrice, Dondaine, Nicolas, Kretz, Christine, Haumesser, Nicolas, Poirson, Claire, Toussaint, Anne, Greenleaf, Rebecca S, Barger, Melissa A, Mahoney, Lane J, Kang, Peter B, Zanoteli, Edmar, Vissing, John, Witting, Nanna, Echaniz-Laguna, Andoni, Wallgren-Pettersson, Carina, Dowling, James, Merlini, Luciano, Oldfors, Anders, Bomme Ousager, Lilian, Melki, Judith, Krause, Amanda, Jern, Christina, Oliveira, Acary S B, Petit, Florence, Jacquette, Aurélia, Chaussenot, Annabelle, Mowat, David, Leheup, Bruno, Michel, Michele, Poza Aldea, Juan José, Michel, Fabrice, Furby, Alain, Llona, Jose E Barcena, van Coster, Rudy, Bertini, Enrico, Urtizberea, Jon Andoni, Drouin-Garraud, Valérie, Béroud, Christophe, Prudhon, Bernard, Bedford, Melanie, Mathews, Katherine, Erby, Lori a H, Smith, Stephen A, Roggenbuck, Jennifer, Crowe, Carol A, Brennan Spitale, Allison, Johal, Sheila C, Amato, Anthony A, Demmer, Laurie A, Jonas, Jessica, Darras, Basil T, Bird, Thomas D, Laurino, Mercy, Welt, Selman I, Trotter, Cynthia, Guicheney, Pascale, Das, Soma, Mandel, Jean-Louis, Beggs, Alan H, Laporte, Jocelyn, Dechene, Elizabeth T., Dempsey, Melissa A., Greenleaf, Rebecca S., Barger, Melissa A., Mahoney, Lane J., Kang, Peter B., Oliveira, Acary S. B., Llona, Jose E. Barcena, Erby, Lori A. H., Smith, Stephen A., Crowe, Carol A., Johal, Sheila C., Amato, Anthony A., Demmer, Laurie A., Darras, Basil T., Bird, Thomas D., Welt, Selman I., Beggs, Alan H.
Publikováno v:
Human Mutation
Human Mutation, 2012, 33 (6), pp.949-959. ⟨10.1002/humu.22067⟩
Human Mutation, Wiley, 2012, 33 (6), pp.949-959. 〈10.1002/humu.22067〉
Human Mutation, Wiley, 2012, 33 (6), pp.949-959. ⟨10.1002/humu.22067⟩
Böhm, J, Biancalana, V, Dechene, E T, Bitoun, M, Pierson, C R, Schaefer, E, Karasoy, H, Dempsey, M A, Klein, F, Dondaine, N, Kretz, C, Haumesser, N, Poirson, C, Toussaint, A, Greenleaf, R S, Barger, M A, Mahoney, L J, Kang, P B, Zanoteli, E, Vissing, J, Witting, N, Echaniz-Laguna, A, Wallgren-Pettersson, C, Dowling, J, Merlini, L, Oldfors, A, Ousager, L B, Melki, J, Krause, A, Jern, C, Oliveira, A S B, Petit, F, Jacquette, A, Chaussenot, A, Mowat, D, Leheup, B, Cristofano, M, Poza Aldea, J J, Michel, F, Furby, A, Llona, J E B, Van Coster, R, Bertini, E, Urtizberea, J A, Drouin-Garraud, V, Béroud, C, Prudhon, B, Bedford, M, Mathews, K, Erby, L A H, Smith, S A, Roggenbuck, J, Crowe, C A, Brennan Spitale, A, Johal, S C, Amato, A A, Demmer, L A, Jonas, J, Darras, B T, Bird, T D, Laurino, M, Welt, S I, Trotter, C, Guicheney, P, Das, S, Mandel, J-L, Beggs, A H & Laporte, J 2012, ' Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy ', Human Mutation, vol. 33, no. 6, pp. 949-59 . https://doi.org/10.1002/humu.22067
Human Mutation, 2012, 33 (6), pp.949-959. ⟨10.1002/humu.22067⟩
Human Mutation, Wiley, 2012, 33 (6), pp.949-959. 〈10.1002/humu.22067〉
Human Mutation, Wiley, 2012, 33 (6), pp.949-959. ⟨10.1002/humu.22067⟩
Böhm, J, Biancalana, V, Dechene, E T, Bitoun, M, Pierson, C R, Schaefer, E, Karasoy, H, Dempsey, M A, Klein, F, Dondaine, N, Kretz, C, Haumesser, N, Poirson, C, Toussaint, A, Greenleaf, R S, Barger, M A, Mahoney, L J, Kang, P B, Zanoteli, E, Vissing, J, Witting, N, Echaniz-Laguna, A, Wallgren-Pettersson, C, Dowling, J, Merlini, L, Oldfors, A, Ousager, L B, Melki, J, Krause, A, Jern, C, Oliveira, A S B, Petit, F, Jacquette, A, Chaussenot, A, Mowat, D, Leheup, B, Cristofano, M, Poza Aldea, J J, Michel, F, Furby, A, Llona, J E B, Van Coster, R, Bertini, E, Urtizberea, J A, Drouin-Garraud, V, Béroud, C, Prudhon, B, Bedford, M, Mathews, K, Erby, L A H, Smith, S A, Roggenbuck, J, Crowe, C A, Brennan Spitale, A, Johal, S C, Amato, A A, Demmer, L A, Jonas, J, Darras, B T, Bird, T D, Laurino, M, Welt, S I, Trotter, C, Guicheney, P, Das, S, Mandel, J-L, Beggs, A H & Laporte, J 2012, ' Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy ', Human Mutation, vol. 33, no. 6, pp. 949-59 . https://doi.org/10.1002/humu.22067
International audience; Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2b8230a547c3160caa644d9867fa832
https://hal-amu.archives-ouvertes.fr/hal-01681807
https://hal-amu.archives-ouvertes.fr/hal-01681807