Fetal mesenchymal stem-cell engraftment in bone after in utero transplantation in a patient with severe osteogenesis imperfecta von LE BLANC, Katarina, GÖTHERSTRÖM, Cecilia, NORDEN-LINDEBERG, Solveig, JANSSON, Monika, DALTON, Ann, ASTRÖM, Eva, WESTGREN, Magnus, RINGDEN, Olle, HASSAN, Moustapha, MCMAHON, Robert, HORWITZ, Edwin, ANNEREN, Goran, AXELSSON, Ove, NUNN, Janice, EWALD, Uwe

Volltext

A novel approach using long‐read sequencing and ddPCR to investigate gonadal mosaicism and estimate recurrence risk in two families with developmental disorders von Wilbe, Maria, Gudmundsson, Sanna, Johansson, Josefin, Ameur, Adam, Stattin, Eva‐Lena, Annerén, Göran, Malmgren, Helena, Frykholm, Carina, Bondeson, Marie‐Louise

Volltext

Changes in mortality and causes of death in the Swedish Down syndrome population von Englund, Annika, Jonsson, Björn, Zander, Cecilia Soussi, Gustafsson, Jan, Annerén, Göran

Volltext

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish von Gudmundsson, Sanna, Wilbe, Maria, Filipek-Górniok, Beata, Molin, Anna-Maja, Ekvall, Sara, Johansson, Josefin, Allalou, Amin, Gylje, Hans, Kalscheuer, Vera M., Ledin, Johan, Annerén, Göran, Bondeson, Marie-Louise

Volltext

Prevalence of autism and attention‐deficit–hyperactivity disorder in Down syndrome: a population‐based study von Oxelgren, Ulrika Wester, Myrelid, Åsa, Annerén, Göran, Ekstam, Bodil, Göransson, Cathrine, Holmbom, Agneta, Isaksson, Anne, Åberg, Marie, Gustafsson, Jan, Fernell, Elisabeth

Volltext

Transcriptome and Proteome Profiling of Neural Induced Pluripotent Stem Cells from Individuals with Down Syndrome Disclose Dynamic Dysregulations of Key Pathways and Cellular Funct... von Sobol, Maria, Klar, Joakim, Laan, Loora, Shahsavani, Mansoureh, Schuster, Jens, Annerén, Göran, Konzer, Anne, Mi, Jia, Bergquist, Jonas, Nordlund, Jessica, Hoeber, Jan, Huss, Mikael, Falk, Anna, Dahl, Niklas

Volltext

Information and knowledge about Down syndrome among women and partners after first trimester combined testing von Ternby, Ellen, Ingvoldstad, Charlotta, Annerén, Göran, Lindgren, Peter, Axelsson, Ove

Volltext

Midwives and information on prenatal testing with focus on Down syndrome von Ternby, Ellen, Ingvoldstad, Charlotta, Annerén, Göran, Axelsson, Ove

Volltext

Clinical variability of the 22q11.2 duplication syndrome von Wentzel, Christian, Fernström, Maria, Öhrner, Ylva, Annerén, Göran, Thuresson, Ann-Charlotte

Volltext

A novel quantitative targeted analysis of X-chromosome inactivation (XCI) using nanopore sequencing von Johansson, Josefin, Lidéus, Sarah, Höijer, Ida, Ameur, Adam, Gudmundsson, Sanna, Annerén, Göran, Bondeson, Marie-Louise, Wilbe, Maria

Volltext

Altered expression of autoimmune regulator in infant down syndrome thymus, a possible contributor to an autoimmune phenotype von Skogberg, Gabriel, Lundberg, Vanja, Lindgren, Susanne, Gudmundsdottir, Judith, Sandström, Kerstin, Kämpe, Olle, Annerén, Göran, Gustafsson, Jan, Sunnegårdh, Jan, van der Post, Sjoerd, Telemo, Esbjörn, Berglund, Martin, Ekwall, Olov

Volltext

Generation of two human iPSC lines (UUIGPi013-A and UUIPGi014-A) from cases with Down syndrome and full trisomy for chromosome 21 (T21) von Schuster, Jens, Hoeber, Jan, Sobol, Maria, Fatima, Ambrin, Annerén, Göran, Dahl, Niklas

Volltext

Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-noonan syndrome von Ekvall, Sara, Sjörs, Kerstin, Jonzon, Anders, Vihinen, Mauno, Annerén, Göran, Bondeson, Marie-Louise

Volltext

MuSK: a new target for lethal fetal akinesia deformation sequence (FADS) von Wilbe, Maria, Ekvall, Sara, Eurenius, Karin, Ericson, Katharina, Casar-Borota, Olivera, Klar, Joakim, Dahl, Niklas, Ameur, Adam, Annerén, Göran, Bondeson, Marie-Louise

Volltext

Autism needs to be considered in children with Down Syndrome von Wester Oxelgren, Ulrika, Åberg, Marie, Myrelid, Åsa, Annerén, Göran, Westerlund, Joakim, Gustafsson, Jan, Fernell, Elisabeth

Volltext

Ultrasonographic findings in spontaneous miscarriage: relation to euploidy and aneuploidy von Ljunger, Elisabeth, M.D, Stavreus-Evers, Anneli, Ph.D, Cnattingius, Sven, M.D., Ph.D, Ekbom, Anders, M.D., Ph.D, Lundin, Catarina, M.D, Annéren, Göran, M.D., Ph.D, Sundström-Poromaa, Inger, M.D., Ph.D

Volltext

More severe intellectual disability found in teenagers compared to younger children with Down syndrome von Wester Oxelgren, Ulrika, Myrelid, Åsa, Annerén, Göran, Westerlund, Joakim, Gustafsson, Jan, Fernell, Elisabeth

Volltext

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth von Frisk, Sofia, Taylan, Fulya, Blaszczyk, Izabela, Nennesmo, Inger, Annerén, Göran, Herm, Bettina, Stattin, Eva‐Lena, Zachariadis, Vasilios, Lindstrand, Anna, Tesi, Bianca, Laurell, Tobias, Nordgren, Ann

Volltext

Mutation screening and array comparative genomic hybridization using a 180K oligonucleotide array in VACTERL association von Winberg, Johanna, Gustavsson, Peter, Papadogiannakis, Nikos, Sahlin, Ellika, Bradley, Frideborg, Nordenskjöld, Edvard, Svensson, Pär-Johan, Annerén, Göran, Iwarsson, Erik, Nordgren, Ann, Nordenskjöld, Agneta

Volltext

Caffeine Intake and the Risk of First-Trimester Spontaneous Abortion von Cnattingius, Sven, Signorello, Lisa B, Annerén, Göran, Clausson, Britt, Ekbom, Anders, Ljunger, Elisabeth, Blot, William J, McLaughlin, Joseph K, Petersson, Gunnar, Rane, Anders, Granath, Fredrik

Volltext