Zobrazeno 1 - 10
of 21
pro vyhledávání: '"Valérie Malan"'
Autor:
Marianna Parlato, Sandrine Nugteren, D.J. Lindenbergh-Kortleve, Remy Boisgard, R. C. Raatgeep, Nicolas Guegan, Iris H I M Hollink, Nadine Cerf-Bensussan, L M M Costes, Fabienne Charbit-Henrion, M. Luisa Mearin, Johanna C. Escher, Valérie Malan, Jan Krzysztof Nowak, Janneke N. Samsom, Sharon Veenbergen, Maria E. Joosse
Publikováno v:
Mucosal Immunology, 14(5), 1172-1182. SPRINGERNATURE
Mucosal Immunology
Mucosal Immunology, 14(5), 1172-1182. Nature Publishing Group
Mucosal Immunology
Mucosal Immunology, 14(5), 1172-1182. Nature Publishing Group
Single genetic mutations predispose to very early onset inflammatory bowel disease (VEO-IBD). Here, we identify a de novo duplication of the 10p15.1 chromosomal region, including the IL2RA locus, in a 2-year-old girl with treatment-resistant pancolit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a002db7d270b9a537d87accc4d0b3ea0
https://hdl.handle.net/1887/3277458
https://hdl.handle.net/1887/3277458
Autor:
Marguerite Hureaux, Giulia Barcia, Charlotte Mechler, Catherine Turleau, Valérie Malan, Matthieu Egloff, Tania Attié-Bitach, Bettina Bessières, Vassilis Tsatsaris, Férechté Encha-Razavi, Yves Ville, Julien Stirnemann, Nicolas Chatron, Selima Ben Miled, Aurélie Coussement
Publikováno v:
Prenatal Diagnosis. 39:1026-1034
Objective Neural tube defects (NTDs) are one of the most common congenital anomalies caused by a complex interaction of many genetic and environmental factors. In about 10% of cases, NTDs are associated with genetic syndromes or chromosomal anomalies
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:
Beate Albrecht, Mandy Krumbiegel, Diana Postorivo, Agatino Battaglia, Laura Bernardini, Valentina Parisi, Barbara Torres, Gioacchino Scarano, Fortunato Lonardo, Antonio Novelli, Annamaria Nardone, Valentina Guida, Paolo Fontana, Francesco Brancati, Silvia Lanciotti, Alessandra Splendiani, Malte Spielmann, Chiara Perria, Valérie Malan, Francesco Garaci, Judith Koetting, Geneviève Baujat, Jasmin Beygo, Hermann-Josef Lüdecke, Alma Kuechler, Lorenzo Sinibaldi
Publikováno v:
Clinical genetics. 96(3)
Two distinct genomic disorders have been linked to Xq28-gains, namely Xq28-duplications including MECP2 and Int22h1/Int22h2-mediated duplications involving RAB39B. Here, we describe six unrelated patients, five males and one female, with Xq28-gains d
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:
Sophie Scheidecker, Françoise Devillard, Gaetan Lesca, Maryline Carneiro, Christèle Dubourg, Ganaëlle Remerand, Catherine Badens, Odile Boespflug-Tanguy, Nathalie Marle, Serge Romana, Nadia Bahi-Buisson, Jean-Paul Bonnefont, Hubert Journel, Bénédicte Duban-Bedu, Brigitte Gilbert-Dussardier, Mathilde Nizon, Nathalie Perreton, Sophie Julia, Cyril Goizet, Delphine Héron, Véronique Satre, Marguerite Miguet, Joris Andrieux, Pierre-Simon Jouk, Laurence Perrin, Renaud Touraine, Ghislaine Plessis, Dominique Martin-Coignard, Caroline Rooryck, Catherine Vincent-Delorme, Laurence Faivre, Salima El Chehadeh, Thierry Bienvenu, Jean-Luc Alessandri, Anne-Claude Tabet, Laurent Pasquier, Martine Raynaud, Réseau AChro-Puce, Marjolaine Willems, Bruno Leheup, Marianne Till, Jeanne Amiel, Jacqueline Vigneron, Nicole Philip, Valérie Kremer, Massimiliano Rossi, Boris Keren, Annick Toutain, Fabienne Prieur, Bertrand Isidor, Séverine Drunat, Marilyn Lackmy-Port-Lis, Albert David, Christel Thauvin-Robinet, Damien Sanlaville, Laetitia Lambert, Lydie Burglen, Klaus Dieterich, Catherine Sarret, Anne Moncla, Didier Lacombe, Fanny Laffargue, Kim Maincent, Marlène Rio, Clarisse Baumann, Mathilde Lefebvre, Sabine Sigaudy, Laurent Guibaud, Adeline Vigouroux, Valérie Malan, Patrick Callier, Chantal Missirian, Christophe Philippe, Christine Francannet, Anne-Laure Mosca-Boidron, Valérie Cormier-Daire, Cédric Le Caignec, Vincent des Portes, Charles Coutton, Alexandra Afenjar, Sandrine Chantot-Bastaraud, Julien Thevenon, Mylène Béri-Dexheimer, Hilde Van Esch, Bernard Echenne, Jean-Marie Cuisset, Jean-Michel Pedespan
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, BMJ Publishing Group, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal of Medical Genetics, BMJ Publishing Group, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
Journal of Medical Genetics, 2018, 55 (6), pp.jmedgenet-2017-104956. ⟨10.1136/jmedgenet-2017-104956⟩
The Xq28 duplication involving theMECP2gene (MECP2duplication) has been mainly described in male patients with severe developmental delay (DD) associated with spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08bb3809b5e7ee7287c9062f8ef529f3
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02064139
https://hal-univ-bourgogne.archives-ouvertes.fr/hal-02064139
Autor:
Kiem Lien Thi Nguyen, Laurence Colleaux, Lam Son Nguyen, Van Hai Nong, Thu Hien Nguyen, Diem Ngoc Ngo, Pierre Landrieu, Van Anh Pham, Valérie Malan, Huy Hoang Nguyen, Giulia Barcia
Publikováno v:
American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (9), pp.1981-1984. ⟨10.1002/ajmg.a.40375⟩
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (9), pp.1981-1984. ⟨10.1002/ajmg.a.40375⟩
The clinical presentation of distal duplications of the long arm of chromosome (chr) 16 is currently not well described. Only one case of microduplication of chr16q22.1 and another involving the chr16q22.1q23.1 region have been reported so far. Here,
Autor:
S. Romana, Michel Vekemans, Anne Philippe, Sylvie Nusbaum, Catherine Turleau, Valérie Malan, Julie Steffann, D. Lamblin, Bérénice Doray, Marie-Line Jacquemont, Catherine Patrat, Valérie Cormier-Daire, Camille Leroy, Laurence Colleaux
Publikováno v:
Clinical Genetics. 89:68-73
The Xq25 duplications syndrome has recently emerged as a distinct clinical entity. We report here on six new patients belonging to two unrelated families and harbouring an Xq25 microduplication detected by array CGH. Similarly to previously reported
Autor:
Marie-Laure Maurin, Valérie Malan, Pascale Sonigo, Michel Vekemans, Yves Ville, Catherine Turleau, Sophie Rondeau, Chloé Arfeuille
Publikováno v:
Cytogenetic and genome research. 151(3)
Segmental aneusomies are usually associated with clinical consequences, but an increasing number of nonpathogenic cytogenetically visible as well as large cryptic chromosomal imbalances have been reported. Here, we report a 3.6-Mb Xq21.33 microduplic
Autor:
Pierre-Simon Jouk, Pierre F. Ray, Jeanne Amiel, Jill Clayton-Smith, Marie Bidart, Véronique Satre, Sarra Miladi, Alessandra Renieri, Daphné Lehalle, Françoise Devillard, Michèle El Atifi, John Rendu, François Berger, Charles Coutton, C Bosson, Julien Thevenon, Margherita Baldassarri, Valérie Malan, Gaëlle Vieville, Maria Antonietta Mencarelli, Florence Amblard
To determine whether duplication of the ARID1A gene is responsible for a new recognizable syndrome. We describe four patients with a 1p36.11 microduplication involving ARID1A as identified by array–comparative genomic hybridization . We performed c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::880d23a7ef1067425530ab3d32bd4e57
http://hdl.handle.net/11365/1006635
http://hdl.handle.net/11365/1006635