Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Valérie Malan"'
Autor:
G. Dumas, Arnold Munnich, Nadia Bahi-Buisson, Muriel Le Bourgeois, Anna Kaminska, M.-T. Dangles, Cyril Gitiaux, Delphine Coste-Zeitoun, Patricia Vignolo-Diard, Marlène Rio, Nicole Chemaly, Marie Hully, Rima Nabbout, Valérie Malan, Monika Eisermann, Christine Barnerias, Christine Soufflet, Anne Guimier, S. Romana, Isabelle Desguerre, Odile Raoul
Publikováno v:
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. 132(5)
Objective We aimed to describe epilepsy and EEG patterns related to vigilance states and age, in chromosome15-long-arm-duplication-syndrome (dup15q) children with epilepsy, in both duplication types: interstitial (intdup15) and isodicentric (idic15).
Autor:
Brigitte Gilbert-Dussardier, Patrick Edery, Flavie Diguet, Géraldine Joly-Hélas, Fanny Morice-Picard, Nicolas Chatron, Jeanne Amiel, Fabienne Prieur, Jérome Toutain, Sandra Whalen, Marine Lebrun, Gwenaël Nadeau, Sylvie Jaillard, Céline Pebrel-Richard, Annabelle Chaussenot, Bénédicte Demeer, Florence Demurger, Sophie Dupuis-Girod, Marianne Till, Nicole Philip, Jacques Puechberty, Laurent Pasquier, Pierre-Antoine Rollat-Farnier, Claire Bardel, Anne-Marie Guerrot, Anne-Claude Tabet, Sylvie Odent, Annick Toutain, Alain Verloes, Jean-Michel Dupont, Christine Coubes, Aziza Lebbar, Yline Capri, Bertrand Isidor, James Lespinasse, Didier Lacombe, Julie Masson, Sophie Blesson, Marine Houlier, Véronique Paquis-Flucklinger, Michèle Mathieu-Dramard, Florence Amblard, Patrick Callier, Jonathan Levy, Chantal Missirian, Véronique Satre, Marie-France Portnoï, Cyril Mignot, Stéphanie Valence, Catherine Sarret, Sébastien Moutton, Françoise Devillard, Alice Masurel-Paulet, Caroline Schluth-Bolard, Patrick Collignon, Jean-Pierre Siffroi, Marie-Pierre Cordier, Renaud Touraine, Marlène Rio, Céline Dupont, Cédric Le Caignec, Damien Sanlaville, Audrey Putoux, Morgane Plutino, Valérie Kremer, Valérie Malan, Martine Doco-Fenzy, Alexandra Afenjar, Caroline Rooryck-Thambo, Massimiliano Rossi, Linda Pons, Gaetan Lesca, Laurence Faivre
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal of Medical Genetics, BMJ Publishing Group, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
Journal of Medical Genetics, 2019, 56 (8), pp.526-535. ⟨10.1136/jmedgenet-2018-105778⟩
BackgroundBalanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bfa0d97e8cc1623bbc8d64f06561370
https://hal.archives-ouvertes.fr/hal-02097116
https://hal.archives-ouvertes.fr/hal-02097116
Autor:
Peter Spazzapan, Eric Arnaud, Federico Di Rocco, Geneviève Baujat, Francis Brunelle, Valérie Malan, Mathilde Nizon
Publikováno v:
Child's Nervous System. 32:327-335
The 9p deletion syndrome is a rare condition, which associates trigonocephaly, facial dysmorphism and developmental delay. The neuroradiological aspects of this syndrome have not yet been described. The purpose of this article is to identify the clin
Autor:
Valérie Malan, Violet Gelowani, Shen Gu, Pengfei Liu, Sandra Chantot-Bastaraud, James R. Lupski, Claudia M.B. Carvalho, Andrew Coe, Bo Yuan, Arnold Munnich, Christine R. Beck, Pilar L. Magoulas, Lydie Burglen, Sau Wai Cheung, Tamar Harel, Lorraine Potocki
Publikováno v:
The American Journal of Human Genetics. 97:691-707
The genomic duplication associated with Potocki-Lupski syndrome (PTLS) maps in close proximity to the duplication associated with Charcot-Marie-Tooth disease type 1A (CMT1A). PTLS is characterized by hypotonia, failure to thrive, reduced body weight,
Autor:
Marguerite, Miguet, Laurence, Faivre, Jeanne, Amiel, Mathilde, Nizon, Renaud, Touraine, Fabienne, Prieur, Laurent, Pasquier, Mathilde, Lefebvre, Julien, Thevenon, Christèle, Dubourg, Sophie, Julia, Catherine, Sarret, Ganaëlle, Remerand, Christine, Francannet, Fanny, Laffargue, Odile, Boespflug-Tanguy, Albert, David, Bertrand, Isidor, Jacqueline, Vigneron, Bruno, Leheup, Laetitia, Lambert, Christophe, Philippe, Mylène, Béri-Dexheimer, Jean-Marie, Cuisset, Joris, Andrieux, Ghislaine, Plessis, Annick, Toutain, Laurent, Guibaud, Valérie, Cormier-Daire, Marlene, Rio, Jean-Paul, Bonnefont, Bernard, Echenne, Hubert, Journel, Lydie, Burglen, Sandrine, Chantot-Bastaraud, Thierry, Bienvenu, Clarisse, Baumann, Laurence, Perrin, Séverine, Drunat, Pierre-Simon, Jouk, Klaus, Dieterich, Françoise, Devillard, Didier, Lacombe, Nicole, Philip, Sabine, Sigaudy, Anne, Moncla, Chantal, Missirian, Catherine, Badens, Nathalie, Perreton, Christel, Thauvin-Robinet, Réseau, AChro-Puce, Jean-Michel, Pedespan, Caroline, Rooryck, Cyril, Goizet, Catherine, Vincent-Delorme, Bénédicte, Duban-Bedu, Nadia, Bahi-Buisson, Alexandra, Afenjar, Kim, Maincent, Delphine, Héron, Jean-Luc, Alessandri, Dominique, Martin-Coignard, Gaëtan, Lesca, Massimiliano, Rossi, Martine, Raynaud, Patrick, Callier, Anne-Laure, Mosca-Boidron, Nathalie, Marle, Charles, Coutton, Véronique, Satre, Cédric Le, Caignec, Valérie, Malan, Serge, Romana, Boris, Keren, Anne-Claude, Tabet, Valérie, Kremer, Sophie, Scheidecker, Adeline, Vigouroux, Marilyn, Lackmy-Port-Lis, Damien, Sanlaville, Marianne, Till, Maryline, Carneiro, Brigitte, Gilbert-Dussardier, Marjolaine, Willems, Hilde, Van Esch, Vincent Des, Portes, Salima, El Chehadeh
Publikováno v:
Journal of medical genetics. 55(6)
The Xq28 duplication involving the
Autor:
Jill A. Rosenfeld, Dominique Bonneau, Deborah Barbouth, Stephen Sanders, Kimberly Nugent, Kimberly Glaser, Ignacio Briceño, Kyle Retterer, Sylvain Simon, Weimin Bi, Yaping Yang, Holly A.F. Stessman, Kristin G. Monaghan, Pawel Stankiewicz, Caroline Rooryck, Sébastien Küry, James R. Lupski, Xenia Latypova, Carlos A. Bacino, Stephanie Sacharow, Sandra Mercier, Evan E. Eichler, Marie Vincent, Elizabeth Roeder, Sébastien Schmitt, Thomas Besnard, Alberto Gómez, Ankita Patel, Brigitte Gilbert-Dussardier, Valérie Malan, Mathilde Nizon, Jessica Douglas, Annick Toutain, Peter-Michael Kloetzel, Anne-Sophie Denommé-Pichon, Frédéric Ebstein, Fan Xia, Laurent Pasquier, Megan T. Cho, Mathilde Pacault, Laurence Perrin-Sabourin, James B. Gibson, Bertrand Isidor, William J. Craigen, Bo Yuan, Stéphane Bézieau, Chad A. Shaw, Richard Redon, Janice L. Smith, Benjamin Cogné, Eric Bieth, Wallid Deb, Kamal Khan, Sylvie Odent, Andrea Lehmann, Tahir N. Khan, Philippe Parent, Christelle Golzio, Nicholas Katsanis, Marie-Line Jacquemont, Tomasz Gambin
Publikováno v:
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 100 (2), pp.352-363. ⟨10.1016/j.ajhg.2017.01.003⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 100, pp.689. ⟨10.1016/j.ajhg.2017.03.003⟩
Universidad de La Sabana
Intellectum Repositorio Universidad de La Sabana
Repositorio Universidad de la Sabana
Universidad de la Sabana
instacron:Universidad de la Sabana
American Journal of Human Genetics, 2017, 100 (2), pp.352-363. ⟨10.1016/j.ajhg.2017.01.003⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 100 (2), pp.352-363. 〈10.1016/j.ajhg.2017.01.003〉
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 100 (2), pp.352-363. ⟨10.1016/j.ajhg.2017.01.003⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 100, pp.689. ⟨10.1016/j.ajhg.2017.03.003⟩
Universidad de La Sabana
Intellectum Repositorio Universidad de La Sabana
Repositorio Universidad de la Sabana
Universidad de la Sabana
instacron:Universidad de la Sabana
American Journal of Human Genetics, 2017, 100 (2), pp.352-363. ⟨10.1016/j.ajhg.2017.01.003⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2017, 100 (2), pp.352-363. 〈10.1016/j.ajhg.2017.01.003〉
12 páginas Trichosporon asahii es un hongo patógeno emergente reportado en la literatura médica principalmente en pacientes inmunocomprometidos. No obstante, el presente caso es inusual debido a que se trata de un paciente adulto joven inmunocompe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da22d7dbd82e9c777455092df3eb5e94
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01478814/file/main.pdf
https://hal-univ-rennes1.archives-ouvertes.fr/hal-01478814/file/main.pdf
Autor:
Marie Gonzales, Alice Goldenberg, Jean-Luc Alessandri, Charles Decaestecker, Alain Verloes, Daphné Lehalle, Marie-Line Jacquemont, Marlène Rio, Muriel Holder-Espinasse, Christopher T. Gordon, Alexandre Vasiljevic, Michel Vekemans, Loïc de Pontual, Sandrine Marlin, Laurent Pasquier, Didier Lacombe, Robert Smigiel, Lucile Boutaud, Sylvie Manouvrier-Hanu, Valérie Malan, Arnold Munnich, Jeanne Amiel, Stanislas Lyonnet, Christel Thauvin-Robinet, Roseline Caumes, Geneviève Baujat, Odile Boute-Benejean, Florence Petit, Myriam Oufadem, Gilles Morin, Neus Baena, Clarisse Baumann, Dominique Gaillard, Tania Attié-Bitach, Géraldine Goudefroye, Michèle Mathieu-Dramard
Publikováno v:
Human Mutation. 35:478-485
Mandibulofacial dysostosis, Guion-Almeida type (MFDGA) is a recently delineated multiple congenital anomalies/mental retardation syndrome characterized by the association of mandibulofacial dysostosis (MFD) with external ear malformations, hearing lo
Autor:
Christine Bole-Feysot, Arnold Munnich, Pascale de Lonlay, Agnès Rötig, Anaïs Brassier, Valérie Malan, Jean-Paul Bonnefont, Zahra Assouline, Solenn Pruvost, Coralie Haudry, Anne-Sophie Lebre
Publikováno v:
Molecular Genetics and Metabolism. 107:700-704
We report maternal uniparental disomy of chromosome 2 (matUPD2) in a 9-month-old girl presenting with hepatocerebral mitochondrial DNA depletion syndrome. This patient was homozygous for the c.352C > T (p.Arg118Cys) mutation in DGUOK gene. The proban
Autor:
Céline Bonnet, Valérie Cormier-Daire, Valérie Drouin-Garraud, Thierry Billette de Villemeur, Muriel Holder-Espinasse, Séverine Fehrenbach, Didier Lacombe, Dominique Bonneau, Nicolas Jeanne, Marie-France Portnoï, Joelle Roume, Valérie Malan, Marion Gérard, Christine Coubes, Lydie Burglen, Alexandra Afenjar, Delphine Héron, Clarisse Baumann, Thierry Frebourg, Albert David, Pascale Saugier-Veber
Publikováno v:
Human Mutation. 28:1098-1107
Sotos syndrome is an overgrowth syndrome characterized by distinctive facial features, learning difficulties, and macrocephaly with frequent pre- and postnatal overgrowth with advanced bone age. Here, we report on our experience in the molecular diag
Autor:
Marie-Christine Vantyghem, Delphine Fauvert, Bénédicte Duban, Florence Petit, Frenny Sheth, Roseline Caumes, Louis Vallée, Valérie Malan, Guillaume Jedraszak, Jean-Marie Cuisset, Odile Boute, Patricia Blanchet, Valérie Cormier-Daire, Matthieu Decamp, Marie Pigeyre, Marion Gérard, Joelle Roume, Sandrine Lanco-Dosen, Nathalie Lemeur, Pierre Sarda, Muriel Holder-Espinasse, Jacques Puechberty, Frédéric Bilan, Gilles Morin, Lucie Pinson, David Geneviève, Ghislaine Plessis, Bruno Delobel, Marie-Pierre Lemaitre, Sylvie Manouvrier-Hanu, Clémence Vanlerberghe, Brigitte Gilbert-Dussardier, Sonia Bouquillon, Joris Andrieux, Catherine Vincent-Delorme, Michèle Mathieu
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2015, 58 (3), pp.140-147. ⟨10.1016/j.ejmg.2015.01.002⟩
European Journal of Medical Genetics, Elsevier, 2015, 58 (3), pp.140-147. ⟨10.1016/j.ejmg.2015.01.002⟩
International audience; Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion between BP1 and BP2 has been previously associated with developmental delay and at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8a952d3038c9029b5eaad8c504547e62
https://hal.umontpellier.fr/hal-02135606
https://hal.umontpellier.fr/hal-02135606