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Identification of Disrupted AUTS2 and EPHA6 Genes by Array Painting in a Patient Carrying a De Novo Balanced Translocation t(3;7) with Intellectual Disability and Neurodevelopment Disorder.
Published in:
American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3031, doi. 10.1002/ajmg.a.37350
By:
- Schneider, Anouck;
- Puechberty, Jacques;
- Ng, Bee Ling;
- Coubes, Christine;
- Gatinois, Vincent;
- Tournaire, Magali;
- Girard, Manon;
- Dumont, Bruno;
- Bouret, Pauline;
- Magnetto, Julia;
- Baghdadli, Amaria;
- Pellestor, Franck;
- Geneviève, David
Publication type:
Article
CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 1, p. 177, doi. 10.1002/ajmg.a.36166
By:
- Pinson, Lucile;
- Mannini, Linda;
- Willems, Marjolaine;
- Cucco, Francesco;
- Sirvent, Nicolas;
- Frebourg, Thierry;
- Quarantotti, Valentina;
- Collet, Corinne;
- Schneider, Anouck;
- Sarda, Pierre;
- Geneviève, David;
- Puechberty, Jacques;
- Lefort, Geneviève;
- Musio, Antonio
Publication type:
Article
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 4, p. 471, doi. 10.1038/ejhg.2013.189
By:
- Doco-Fenzy, Martine;
- Leroy, Camille;
- Schneider, Anouck;
- Petit, Florence;
- Delrue, Marie-Ange;
- Andrieux, Joris;
- Perrin-Sabourin, Laurence;
- Landais, Emilie;
- Aboura, Azzedine;
- Puechberty, Jacques;
- Girard, Manon;
- Tournaire, Magali;
- Sanchez, Elodie;
- Rooryck, Caroline;
- Ameil, Agnès;
- Goossens, Michel;
- Jonveaux, Philippe;
- Lefort, Geneviève;
- Taine, Laurence;
- Cailley, Dorothée
Publication type:
Article
Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 136, doi. 10.1038/ejhg.2013.56
By:
- Corsini, Carole;
- Gencik, Martin;
- Willems, Marjolaine;
- Decker, Eva;
- Sanchez, Elodie;
- Puechberty, Jacques;
- Schneider, Anouck;
- Girard, Manon;
- Edery, Patrick;
- Bretonnes, Patricia;
- Cottalorda, Jérôme;
- Lefort, Geneviève;
- Jeandel, Claire;
- Sarda, Pierre;
- Genevieve, David
Publication type:
Article
Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 2, p. 289, doi. 10.1038/ejhg.2013.113
By:
- Tran Mau-Them, Frederic;
- Willems, Marjolaine;
- Albrecht, Beate;
- Sanchez, Elodie;
- Puechberty, Jacques;
- Endele, Sabine;
- Schneider, Anouck;
- Ruiz Pallares, Nathalie;
- Missirian, Chantal;
- Rivier, Francois;
- Girard, Manon;
- Holder, Muriel;
- Manouvrier, Sylvie;
- Touitou, Isabelle;
- Lefort, Genevieve;
- Sarda, Pierre;
- Moncla, Anne;
- Drunat, Severine;
- Wieczorek, Dagmar;
- Genevieve, David
Publication type:
Article
Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.
Published in:
European Journal of Human Genetics, 2012, v. 20, n. 5, p. 580, doi. 10.1038/ejhg.2011.243
By:
- Amouroux, Cyril;
- Vincent, Marie;
- Blanchet, Patricia;
- Puechberty, Jacques;
- Schneider, Anouck;
- Chaze, Anne Marie;
- Girard, Manon;
- Tournaire, Magali;
- Jorgensen, Christian;
- Morin, Denis;
- Sarda, Pierre;
- Lefort, Geneviève;
- Geneviève, David
Publication type:
Article
Molecular cytogenetic characterization of terminal 14q32 deletions in two children with an abnormal phenotype and corpus callosum hypoplasia.
Published in:
European Journal of Human Genetics, 2008, v. 16, n. 6, p. 680, doi. 10.1038/sj.ejhg.5201977
By:
- Schneider, Anouck;
- Benzacken, Brigitte;
- Guichet, Agnès;
- Verloes, Alain;
- Bonneau, Dominique;
- Collot, Nathalie;
- Dastot-Le-Moal, Florence;
- Goossens, Michel;
- Taine, Laurence;
- Landais, Emilie;
- Gaillard, Dominique;
- Doco-Fenzy, Martine
Publication type:
Article
Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.
Published in:
Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 11, p. N.PAG, doi. 10.1002/mgg3.895
By:
- Gatinois, Vincent;
- Bigi, Nicole;
- Mousty, Eve;
- Chiesa, Jean;
- Musizzano, Yuri;
- Schneider, Anouck;
- Lefort, Geneviève;
- Pinson, Lucile;
- Gaillard, Jean‐Baptiste;
- Ragon, Clémence;
- Perez, Marie‐Josée;
- Tournaire, Magali;
- Blanchet, Patricia;
- Corsini, Carole;
- Haquet, Emmanuelle;
- Callier, Patrick;
- Geneviève, David;
- Pellestor, Franck;
- Puechberty, Jacques
Publication type:
Article
Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.
Published in:
BMC Medical Genomics, 2019, v. 12, n. 1, p. N.PAG, doi. 10.1186/s12920-019-0558-8
By:
- Yauy, Kevin;
- Schneider, Anouck;
- Ng, Bee Ling;
- Gaillard, Jean-Baptiste;
- Sati, Satish;
- Coubes, Christine;
- Wells, Constance;
- Tournaire, Magali;
- Guignard, Thomas;
- Bouret, Pauline;
- Geneviève, David;
- Puechberty, Jacques;
- Pellestor, Franck;
- Gatinois, Vincent
Publication type:
Article
Epiphyseal punctate calcifications (stippling) in complete trisomy 9.
Published in:
Prenatal Diagnosis, 2009, v. 29, n. 11, p. 1085, doi. 10.1002/pd.2350
By:
- Perez, Marie-José;
- Schneider, Anouck;
- Chaze, Anne-Marie;
- Bigi, Nicole;
- Lefort, Geneviève;
- Rouleau, Caroline;
- Faure, Jean-Michel;
- Rahil, Haissam;
- Wadih, Nami;
- Couture, Alain;
- Boulot, Pierre;
- Blanchet, Patricia;
- Sarda, Pierre;
- Geneviève, David
Publication type:
Article

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