Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.

Autor: Kim JH; Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA., Shinde DN; Ambry Genetics, Aliso Viejo, CA 92656, USA., Reijnders MRF; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Hauser NS; Medical Genetics and Metabolism, Valley Children's Hospital, Madera, CA 93636, USA., Belmonte RL; Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA., Wilson GR; Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA., Bosch DGM; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Bubulya PA; Department of Biological Sciences, Wright State University, Dayton, OH 45435, USA., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA., Petrovski S; Department of Medicine, University of Melbourne, Austin Hospital and Royal Melbourne Hospital, Parkville, VIC 3010, Australia; Institute for Genomic Medicine, Columbia University, New York, NY 10027, USA., Stone JK; Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA., Park EY; Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA., Veltman JA; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Sinnema M; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Stumpel CTRM; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Draaisma JM; Department of Pediatrics, Radboudumc Amalia Children's Hospital, 6500 HB Nijmegen, the Netherlands., Nicolai J; Department of Neurology, Maastricht University Medical Center, 6299 HX Maastricht, the Netherlands., Yntema HG; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Lindstrom K; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ 85016, USA., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands., Jewett T; Section on Medical Genetics, Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC 27157, USA., Santoro SL; Nationwide Children's Hospital, Columbus, OH 43205, USA; Ohio State University College of Medicine, Columbus, OH 43210, USA., Vogt J; West Midlands Regional Genetics Service, Birmingham Women's NHS Foundation Trust, Birmingham B15 2TG, UK., Bachman KK; Geisinger Medical Center, Danville, PA 17822, USA., Seeley AH; Geisinger Medical Center, Danville, PA 17822, USA., Krokosky A; Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA., Turner C; Division of Genetics, Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD 20889, USA., Rohena L; Division of Genetics, Department of Pediatrics, San Antonio Military Medical Center, Fort Sam Houston, TX 78234, USA; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, TX 78229, USA., Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Lessel D; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Neu A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany., Strom TM; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany., Wieczorek D; Institute of Human Genetics, University Clinic Düsseldorf, Heinrich-Heine-University, 40225 Düsseldorf, Germany; Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany., Bramswig N; Institute of Human Genetics, University Clinic Essen, University Duisburg-Essen, 45147 Essen, Germany., Laccone FA; Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria., Behunova J; Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria., Rehder H; Institute of Medical Genetics, Medical University of Vienna, Waehringer Strasse 10, 1090 Vienna, Austria., Gordon CT; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Institut Imagine, 75015 Paris, France; Université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 75015 Paris, France., Rio M; Département de Génétique, Hôpital Necker-Enfants Malades, 75015 Paris, France., Romana S; Service de Cytogénétique, Hôpital Necker-Enfants Malades, 75015 Paris, France; Paris Descartes-Sorbonne Paris Cité University, Institut Imagine, 75015 Paris, France., Tang S; Ambry Genetics, Aliso Viejo, CA 92656, USA., El-Khechen D; Ambry Genetics, Aliso Viejo, CA 92656, USA., Cho MT; GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA., McWalter K; GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA., Douglas G; GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA., Baskin B; GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA., Begtrup A; GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA., Funari T; GeneDx Inc., 205 Perry Parkway, Gaithersburg, MD 20877, USA., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC 27710, USA., Stegmann APA; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Stevens SJC; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Zhang DE; Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA; Department of Pathology, University of California, San Diego, La Jolla, CA 92093, USA; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA., Traver D; Division of Biological Sciences, University of California, San Diego, La Jolla, CA 92093, USA., Yao X; Moores Cancer Center, University of California, San Diego, La Jolla, CA 92093, USA., MacArthur DG; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytical and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Department of Medicine, Harvard Medical School, Boston, MA 02115, USA., Brunner HG; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, 6202 AZ Maastricht, the Netherlands., Mancini GM; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN Rotterdam, the Netherlands., Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Owen LB; Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA., Lim ST; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA., Stachura DL; Department of Biological Sciences, California State University, Chico, Chico, CA 95929, USA., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition, and Behaviour, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands. Electronic address: lisenka.vissers@radboudumc.nl., Ahn EYE; Mitchell Cancer Institute, University of South Alabama, Mobile, AL 36604, USA; Department of Biochemistry and Molecular Biology, College of Medicine, University of South Alabama, Mobile, AL 36688, USA. Electronic address: eahn@health.southalabama.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2016 Sep 01; Vol. 99 (3), pp. 711-719. Date of Electronic Publication: 2016 Aug 18.