An Atypical Human Induced Pluripotent Stem Cell Line With a Complex, Stable, and Balanced Genomic Rearrangement Including a Large De Novo 1q Uniparental Disomy

Por Steichen, Clara, Maluenda, Jérôme, Tosca, Lucie, Luce, Eléanor, Pineau, Dominique, Dianat, Noushin, Hannoun, Zara, Tachdjian, Gérard, Melki, Judith, Dubart-Kupperschmitt, Anne
Publicado no Stem Cells Transl Med (2015)

Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent disease

Por Armanet, Narjes, Metay, Corinne, Brisset, Sophie, Deschenes, Georges, Pineau, Dominique, Petit, François M, Di Rocco, Federico, Goossens, Michel, Tachdjian, Gérard, Labrune, Philippe, Tosca, Lucie
Publicado no Mol Cytogenet (2015)