Large National Series of Patients with Xq28 Duplication Involving MECP2: Delineation of Brain MRI Abnormalities in 30 Affected Patients
作者:
El Chehadeh, Salima [1]
;
Faivre, Laurence [2]
;
Mosca-Boidron, Anne-Laure [3]
;
Malan, Valerie [4]
;
Amiel, Jeanne [5]
;
Nizon, Mathilde [6]
;
Touraine, Renaud [7]
;
Prieur, Fabienne [8]
;
Pasquier, Laurent [9]
;
Callier, Patrick [10]
;
Lefebvre, Mathilde [11]
;
Marle, Nathalie [12]
;
Dubourg, Christele [13]
;
Julia, Sophie [14]
;
Sarret, Catherine [15]
;
Francannet, Christine [16]
;
Laffargue, Fanny [17]
;
Boespflug-Tanguy, Odile [18]
;
David, Albert [19]
;
Isidor, Bertrand [20]
;
Le Caignec, Cedric [21]
;
Vigneron, Jacqueline [22]
;
Leheup, Bruno [23]
;
Lambert, Laetitia [24]
;
Philippe, Christophe [25]
;
Cuisset, Jean-Marie [26]
;
Andrieux, Joris [27]
;
Plessis, Ghislaine [28]
;
Toutain, Annick [29]
;
Goldenberg, Alice [30]
;
Cormier-Daire, Valerie [31]
;
Rio, Marlene [32]
;
Bonnefont, Jean-Paul [33]
;
Thevenon, Julien [34]
;
Echenne, Bernard [35]
;
Journel, Hubert ;
Afenjar, Alexandra ;
Burglen, Lydie ;
Bienvenu, Thierry ;
Addor, Marie-Claude ;
Lebon, Sebastien ;
Martinet, Daniele ;
Baumann, Clarisse ;
Perrin, Laurence ;
Drunat, Severine ;
Jouk, Pierre-Simon ;
Devillard, Francoise ;
Coutton, Charles ;
Lacombe, Didier ;
Delrue, Marie-Ange ;
Philip, Nicole ;
Moncla, Anne ;
Badens, Catherine ;
Perreton, Nathalie ;
Masurel, Alice ;
Thauvin-Robinet, Christel ;
Portes, Vincent Des ;
Guibaud, Laurent
作者单位:
CHU Nancy, Serv Genet Med, Nancy, France
[1]
CHU Montpellier, Serv Neurol Pediat, Montpellier, France
[2]
CHU Rouen, Serv Genet Med, Rouen, France
[3]
CHU Lyon GH Est, Serv Neurol Pediat, Bron, France
[4]
CHUV Lausanne, Serv Genet Med, Lausanne, Switzerland
[5]
Hop La Timone, Mol Biol Lab, Marseille, France
[6]
CHU Lyon, Serv Pharmacol Clin, INSERM, EPICIME CIC Lyon 1407, Bron, France
[7]
Hop Femme Mere Enfant, Serv Radiol, Bron, France
[8]
CHU Dijon, Ctr Reference Malad Rares Anomalies Dev & Syndrom, Ctr Genet, FHU TRANSLAD, Dijon, France
[9]
CHU Nancy, Med Genet Lab, Nancy, France
[10]
CHU Rennes, CLAD Ouest, Serv Genet Clin, Rennes, France
[11]
Hop La Timone, Lab Genet Chromosom, Marseille, France
[12]
CHU Grenoble, Dept Genet & Procreat, UMR CNRS 5525, TIMC IMAG Equipe DYCTIM, Grenoble, France
[13]
CHRU Lille, Serv Neuropediat, Lille, France
[14]
CHUV Lausanne, Unite Neuropediat, Lausanne, Switzerland
[15]
Hop Robert Debre, Serv Genet Clin, F-75019 Paris, France
[16]
Univ Bourgogne, Genet & Anomalies Dev, EA4271, Dijon, France
[17]
CHU St Etienne, Serv Genet Clin Chromosom & Mol, St Etienne, France
[18]
CHU Nantes, Serv Genet Med, Nantes, France
[19]
CHU Bordeaux, Serv Genet Clin, Bordeaux, France
[20]
CHU Clermont Ferrand, Serv Genet Med, Clermont Ferrand, France
[21]
Hop Armand Trousseau, Serv Genet, Paris, France
[22]
GH Cochin Broca Hotel Dieu, Lab Biochim & Genet Mol, Paris, France
[23]
CHU Toulouse, Serv Genet Med, Toulouse, France
[24]
Ctr Hosp Vannes, Serv Genet, Vannes, France
[25]
Hop Necker Enfants Malad, Cytogenet Serv, Paris, France
[26]
Hop Necker Enfants Malad, Mol Biol Lab, Paris, France
[27]
Hop La Timone, Dept Med Genet, Marseille, France
[28]
CHRU Lille, Hop Jeanne Flandre, Med Genet Lab, Lille, France
[29]
CHUV Lausanne, Lab Cytogenet Constitut & Prenatale, Lausanne, Switzerland
[30]
Hop Robert Debre, Serv Neuropediat & Malad Metab, F-75019 Paris, France
[31]
Hop Robert Debre, Mol Biol Lab, F-75019 Paris, France
[32]
CHRU Tours, Serv Genet, Tours, France
[33]
CHU Caen, Serv Genet, Caen, France
[34]
Hop Necker Enfants Malad, Serv Genet Clin, Paris, France
[35]
发布时间
2017-04-05
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American journal of medical genetics, Part A
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