PD Dr. Dr. med. Ute Moog
Head of the Outpatient Clinic of the Institute of Human Genetics
Deputy Speaker of the Centre for Rare Diseases University Medical Center Heidelberg
Role in the project : Identification of syndromic developmental disorders with orofacial manifestations
Ute.moog@med.uni-heidelberg.de
Institut für Humangenetik, Universität Heidelberg
Genetische Poliklinik, Im Neuenheimer Feld 440, D – 69120 Heidelberg
Zentrum für Seltene Erkrankungen Universitätsmedizin Heidelberg
Genetische Poliklinik, Im Neuenheimer Feld 440, D – 69120 Heidelberg
DESCRIPTION
Clinical genetics, diagnosistics, counselling, teaching, and clinical research.
Focus: syndromal developmental disorders.
PUBLICATIONS
Medizinische Genetik für die Praxis : Diagnostik, Beratung, Fallbeispiele.
Hrsg. Moog & Rieß, Thieme 2014.
Craniofrontonasal syndrome in a male due to chromosomal mosaicism involving EFNB1: further insights into a genetic paradox.
Evers C, Jungwirth MS, Morgenthaler J, Hinderhofer K, Maas B, Janssen JWG, Jauch A, Hehr U, Steinbeisser H, Moog U.
Clin Genet 2014;85:347-352.
Phenotypic spectrum associated with CASK loss-of-function mutations.
Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G.
J Med Genet 2011;48:741-51.
Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia.
Endris V, Hackmann K, Neuhann TM, Grasshoff U, Bonin M, Haug U, Hahn G, Schallner JC, Schröck E, Tinschert S, Rappold G, Moog U.
Am J Med Genet A 2010;152:2908-2911.
Encephalocraniocutaneous lipomatosis.
Moog U.
J Med Genet 2009;46:721-729.