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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
Viruses Associated with Ovarian Degeneration in Apis mellifera L. Queens.
Published in:
PLoS ONE, 2011, v. 6, n. 1, p. 1, doi. 10.1371/journal.pone.0016217
By:
- Gauthier, Laurent;
- Ravallec, Marc;
- Tournaire, Magali;
- Cousserans, François;
- Bergoin, Max;
- Dainat, Benjamin;
- de Miranda, Joachim R.
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
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
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

Found: 6

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.

Viruses Associated with Ovarian Degeneration in Apis mellifera L. Queens.

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

Duplication 8q12: confirmation of a novel recognizable phenotype with duane retraction syndrome and developmental delay.

Mosaic complete tetrasomy 21 in a fetus with complete atrioventricular septal defect and minor morphological variations.

Disruption of chromatin organisation causes MEF2C gene overexpression in intellectual disability: a case report.