Updated May 2010
Department of
Genetics and Metabolic Diseases
Tel: 972-2-677-7491; Fax: 972-2-677-7499
E-mail: annick@hadassah.org.il
M.D. 1983, Univ. of Paris XI (Faculty of Medicine, Kremlin, Bicêtre); Lect. 2001; Sen. Lecturer. 2004.
Research Interests
Diagnosis of Rare diseases: dysmorphology
Lysosomal storage disorders:Diagnosis and treatment ( mucolipidosis type II and III, Fabry disease, Hunter disease)
Research Projects
v Mucolipidosis III: determination of the clinical phenotype. Funding: Vaincre les maladies lysosomales.
v Behavioral aspects of patients affected with Fabry disease Funding: Mrs C private grant and Genzyme .
v Bone dysplasia: SMED with calcifications are due to DDR2 Funding: Family Z private grant.
Recent Publications
Gordillo M, Vega H , Trainer AH, Hou F , Sakai N , Luque R, Kayserili H, Basaran S, Skovby F, Hennekam RC, Uzielli ML, Schnur RE, Manouvrier S, Chang S, Blair E , Hurst JA, Forzano F, Meins M, Simola KO, Raas-Rothschild A, Schultz RA, McDaniel LD, Ozono K, Inui K, Zou H, Jabs EW . (2008). The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity. Hum Mol Genet., 17:2172-80.
Molho-Pessach V , Agha Z, Aamar S, Glaser B, Doviner V, Hiller N, Zangen DH, Raas-Rothschild A, Ben-Neriah Z, Shweiki S, Elpeleg O, Zlotogorski A . (2008) The H syndrome: A genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin with systemic manifestations. J Am Acad Dermatol., 59:79-85.
Hirshoren N , Gross M ,Banin E , Sosna J , Bargal R , Raas-Rothschild A .
P35S mutation in the NOG gene associated with Teunissen-Cremers syndrome and features of multiple NOG joint-fusion syndromes. Eur J Med Genet., 51:351-357.
Bargal R, Cormier-Daire V Ben-Neriah Z, Le Merrer M, Sosna J, Melki J, Zangen DH, Smithson SF, Borochowitz Z, Belostotsky R, Raas-Rothschild A .( 2009). Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications. Am J Hum Genet., 84:80-4.
Spiegel Ronen , Raas-Rothschild Annick , Reish Orit ,Regev Miriam, Meiner Vardiella, Bargal Ruth, Sury Vivi, Meir Keren, Nadjari Michel, Herman Garciella, Iancu Theodor , Shalev A Stavit , Zeigler Marsha.(2009). The Clinical Spectrum of Fetal Niemann Pick type C. * Am J Med Genet A., 149A:446-50.
Raas-Rothschild A, Dijkhuizen T, Sikkema-Raddatz B, Werner M, Dagan J, Abeliovich D, Lerer I . (2009). The 8q22.1 microdeletion syndrome or Nablus mask-like facial syndrome: Report on two patients and review of the literature. Eur J Med Genet., 52:140-4.
Molinari F, Kaminska A, Fiermonte G, Boddaert N, Raas-Rothschild A, Plouin P, Palmieri L, Brunelle F, Palmieri F, Dulac O, Munnich A, Colleaux L(2009). Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clin Genet., 76:188-94.
Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Giovannucci
Uzielli ML, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M,
Simola KO, Raas-Rothschild A, Hennekam RC, Jabs EW. (2010). Phenotypic variability in 49 cases with ESCO2 mutations, including novel missense and codon deletion in the acetyltansferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome. J Med Genet .,47:30-7.
Backenroth R, Landau EH, Goren M, Raas-Rothschild A. (2010). Fabry Disease and G6PD in Three Family Members with Priapism: Is the Nitric Oxide Pathway to Blame? J Sex Med. Jan 19.