Results 71 to 80 of about 12,735 (119)
Trio Exome Sequencing in VACTERL Association
Kidney International ReportsCurrently, there is only limited data on monogenic causes of vertebral defects, anorectal malformations, cardiac defects, esophageal atresia or tracheoesophageal fistula, renal malformations, and limb defects (VACTERL) association. The aim of this study was to extend the spectrum of disease-causing variants in known genes, to determine the diagnostic ...Jasmina Ćomić, Erik Tilch, Korbinian M. Riedhammer, Melanie Brugger, Theresa Brunet, Katharina Eyring, Katharina Vill, Silke Redler, Velibor Tasic, Eberhard Schmiedeke, Frank-Mattias Schäfer, Nora Abazi-Emini, Ekkehart Jenetzky, Nicole Schwarzer, Anke Widenmann, Martin Lacher, Michael Zech, Sabine Grasshoff-Derr, Michaela Geßner, Carmen Kabs, Barbara Seitz, Andreas C. Heydweiller, Oliver Muensterer, Bärbel Lange-Sperandio, Udo Rolle, Johannes Schumacher, Matthias C. Braunisch, Riccardo Berutti, Heiko Reutter, Julia Hoefele +29 moreopenaire +5 more sourcesEvaluation of the contribution of trio-exome sequencing in selected prenatal indications
Frontiers in GeneticsObjectiveThis study is an example of the contribution of exome sequencing (ES) in selected prenatal indications, while illustrating the complexity of interpreting prenatal genetic testing.Manon Chretien, Julien Osouf, Carine Abel, Alexandra Afenjar, Tania Attie-Bitach, Elise Brischoux-Boucher, Lydie Burglen, Nadège Calmels, Nicolas Chassaing, Thomas Courtin, Julian Delanne, Martine Doco-Fenzy, Martine Doco-Fenzy, Christèle Dubourg, Benjamin Durand, Salima El Chehadeh, Laurence Faivre, Aurore Garde, Emmanuelle Ginglinger, Virginie Haushalter, Damien Haye, Solveig Heide, Laurence Heidet, Laurence Heidet, Delphine Heron, Clémence Jacquin, Laetitia Lambert, Laetitia Lambert, Jean-Baptiste Lamouche, Vincent Laugel, Antony Le Bechec, Daphné Lehalle, Laurence Michel-Calemard, Edgar Montoya Ramirez, Jean Muller, Jean Muller, Jean Muller, Sylvie Odent, Olivier Patat, Juliette Piard, Juliette Piard, Céline Poirsier, Audrey Putoux, Chloé Quelin, Caroline Racine, Caroline Racine, Nicolas Sananes, Nicolas Sananes, Audrey Schalk, Sophie Scheidecker, Sophie Scheidecker, Christel Thauvin-Robinet, Christel Thauvin-Robinet, Stéphanie Valence, Anne-Sophie Weingertner, Anne-Sophie Weingertner, Justine Wourms, Hélène Dollfus, Hélène Dollfus, Bénédicte Gerard, Caroline Schluth-Bolard, Caroline Schluth-Bolard, Elise Schaefer, Elise Schaefer +63 moredoaj +1 more sourceUtility of trio-based exome sequencing in the elucidation of the genetic basis of isolated syndromic intellectual disability: illustrative cases
The Application of Clinical Genetics, 2018 Thaise NR Carneiro,1 Ana CV Krepischi,1 Silvia S Costa,1 Israel Tojal da Silva,2 Angela M Vianna-Morgante,1 Renan Valieris,2 Suzana AM Ezquina,1 Debora R Bertola,3 Paulo A Otto,1 Carla Rosenberg1 1Human Genome and Stem-Cell Research Center, Department of Carneiro TNR, Krepischi ACV, Costa SS, Tojal da Silva I, Vianna-Morgante AM, Valieris R, Ezquina SAM, Bertola DR, Otto PA, Rosenberg C +9 moredoaj
