Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems.

Autor: Vulto-van Silfhout AT; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Rajamanickam S; Department of Physiology and Center for Integrated Research in Cognitive & Neural Sciences, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA., Jensik PJ; Department of Physiology and Center for Integrated Research in Cognitive & Neural Sciences, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA., Vergult S; Center for Medical Genetics, Ghent University, Ghent 9000, Belgium., de Rocker N; Center for Medical Genetics, Ghent University, Ghent 9000, Belgium., Newhall KJ; Department of Pharmacology, University of Washington, Seattle, WA 98195, USA., Raghavan R; Department of Physiology and Center for Integrated Research in Cognitive & Neural Sciences, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA., Reardon SN; Department of Physiology and Center for Integrated Research in Cognitive & Neural Sciences, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA., Jarrett K; Department of Physiology and Center for Integrated Research in Cognitive & Neural Sciences, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA., McIntyre T; Department of Physiology and Center for Integrated Research in Cognitive & Neural Sciences, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA., Bulinski J; Department of Physiology and Center for Integrated Research in Cognitive & Neural Sciences, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA., Ownby SL; Department of Physiology and Center for Integrated Research in Cognitive & Neural Sciences, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA., Huggenvik JI; Department of Physiology and Center for Integrated Research in Cognitive & Neural Sciences, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA., McKnight GS; Department of Pharmacology, University of Washington, Seattle, WA 98195, USA., Rose GM; Department of Physiology and Center for Integrated Research in Cognitive & Neural Sciences, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA; Department of Anatomy, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA., Cai X; Department of Physiology and Center for Integrated Research in Cognitive & Neural Sciences, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA., Willaert A; Center for Medical Genetics, Ghent University, Ghent 9000, Belgium., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Endele S; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., de Ligt J; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., van Bon BW; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Lugtenberg D; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., de Vries PF; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Veltman JA; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Cognitive Neurosciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Brunner HG; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Rauch A; Institute of Medical Genetics, University of Zurich, 8603 Schwerzenbach-Zurich, Switzerland; Neuroscience Center Zurich, University of Zurich, 8603 Schwerzenbach-Zurich, Switzerland; Zurich Center of Integrative Human Physiology, University of Zurich, 8603 Schwerzenbach-Zurich, Switzerland., de Brouwer AP; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Cognitive Neurosciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Carvill GL; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Hoischen A; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA; Howard Hughes Medical Institute, Seattle, WA 98195, USA., Vissers LE; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Menten B; Center for Medical Genetics, Ghent University, Ghent 9000, Belgium., Collard MW; Department of Physiology and Center for Integrated Research in Cognitive & Neural Sciences, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA., de Vries BB; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: bert.devries@radboudumc.nl.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2014 May 01; Vol. 94 (5), pp. 649-61. Date of Electronic Publication: 2014 Apr 10.

WNTs in the neonatal mouse uterus: potential regulation of endometrial gland development.

Autor: Hayashi K; Department of Physiology, Southern Illinois University School of Medicine, Carbondale, Illinois 62901, USA. khayashi@siumed.edu, Yoshioka S, Reardon SN, Rucker EB 3rd, Spencer TE, DeMayo FJ, Lydon JP, MacLean JA 2nd

Publikováno v: Biology of reproduction [Biol Reprod] 2011 Feb; Vol. 84 (2), pp. 308-19. Date of Electronic Publication: 2010 Oct 20.