Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21)

by Jens Schuster, Jan Hoeber, Maria Sobol, Ambrin Fatima, Göran Annerén, Niklas Dahl
Published 2020-12-01

Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association.

by Johanna Winberg, Peter Gustavsson, Nikos Papadogiannakis, Ellika Sahlin, Frideborg Bradley, Edvard Nordenskjöld, Pär-Johan Svensson, Göran Annerén, Erik Iwarsson, Ann Nordgren, Agneta Nordenskjöld
Published 2014-01-01

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency

by Natália Duarte Linhares, Maíra Cristina Menezes Freire, Raony Guimarães Corrêa do Carmo Lisboa Cardenas, Heloisa Barbosa Pena, Katherine Lachlan, Bruno Dallapiccola, Carlos Bacino, Bruno Delobel, Paul James, Ann-Charlotte Thuresson, Göran Annerén, Sérgio D. J. Pena