The Division for Development and Public Relations     ANNICK  RAAS-ROTHSCHILD,  ASSOCIATE PROFESSOR OF HUMAN GENETICS  Status : ACTIVE Birth place : PARIS Office Phone: 02-677-7491 Fax: 02-677-7499 E-Mail: annick@hadassah.org.il U.R.L:   Department Faculty   GENETICS AND METABOLIC DISEASES FACULTY OF MEDICINE Dept. Description   Academic Degree   Institution Year M.D. Univ. of Paris XI (Faculty of Medicine, Kremlin, Bic?tre) 1983   Academic Position   Year ASSOC. PROFESSOR 2011 SENIOR LECTURER 2004 LECTURER 2001   Research Interests Diagnosis of rare diseases: dysmorphology. Lysosomal storage disorders: diagnosis and treatment (Mucolipidosis type II and III, Fabry disease, Hunter disease).   Research Projects Mucolipidosis III: determination of the clinical phenotype. Behavioral aspects of patients affected with Fabry disease. Bone dysplasia: SMED with calcifications are due to DDR2.   Selected Publications Publication Title   Year Fabry disease and G6PD in three family members with priapism: Is 2010 Phenotypic variability in 49 cases with ESCO2 mutations, 2010 Mutations in the mitochondrial glutamate carrier SLC25A22 in 2009 The clinical spectrum of fetal Niemann-Pick type C. 2009 The 8q22.1 microdeletion syndrome or Nablus mask-like facial 2009 Mutations in DDR2 gene cause SMED with short limbs and abnormal 2009 P35S mutation in the NOG gene associated with Teunissen-Cremers 2008 The H syndrome: A genodermatosis characterized by indurated, 2008 The molecular mechanism underlying Roberts syndrome involves 2008 Angiokeratoma corporis diffusum in human beta-mannosidosis: 2007 Molecular epidemiology of hereditary epidermolysis bullosa in a 2006 TAT gene mutation analysis in three Palestinian kindreds with 2006 Hereditary lymphedema type I associated with VEGFR3 mutation: 2006 The heart of children with steroid-resistant nephrotic syndrome: 2006 When Mucolipidosis III meets Mucolipidosis II: GNPTA gene 2006 Microphthalmia with linear skin defects (MLS) syndrome: 2005 Further delineation of Kabuki syndrome in 48 well-defined new 2005 Impaired mitochondrial glutamate transport in autosomal 2005 TBX5 genetic testing validates strict clinical criteria for 2005 Mucolipidosis II is caused by mutations in GNPTA encoding the 2005 A form of Jansen's metaphyseal chondrodysplasia with limited 2004 Genomic organization of the UDP-N-Acetylglucosamine-1-phospho- 2004 Null leukemia inhibitory factor receptor (LIFR) mutations in 2004 A novel mutation in UDP-N-acetylglucosamine-1-phosphotransferase 2004 Glycosphingolipidoses: Beyond the enzymatic defect. 2004 Cardiovascular abnormalities associated with the Stuve-Wiedemann 2003 Early peripheral nervous system manifestations of infantile 2003 Mucolipidosis III type C: First-trimester biochemical and 2003 Family with inflammatory demyelinating polyneuropathy and the 2002 Hypocarnitinemia in lysinuric protein intolerance. 2002 Genetic testing for hearing impairment: Different motivations 2002 A PEX6-defective peroxisomal biogenesis disorder with severe 2002 Rhabdomyoma in the fetus: Illustration of tumor growth during 2001 MPDU1 mutations underlie a novel human congenital disorder of 2001 Mucolipidosis type IV: Novel mutations in Jewish and non-Jewish 2001 Ultrasonographic prenatal diagnosis of microcephalic 2000 Identification of the gene causing Mucolipidosis type IV. 2000 The contribution of connexin 26 mutations to non syndromic 2000 Agenesis of tibia with ectrodactyly/Gollop-Wolfgang complex 1999 Mucolipidosis type IV: The origin of the disease in the 1999   © All rights reserved to The Hebrew University of Jerusalem