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Simón E. Carlo Torres, MD Postgraduate Training PROFESSIONAL EXPERIENCE Genetic Diagnostic Group since Sept. 2001San Jorge Children’s Hospital- 2001 Hospital Damas de Ponce- 2001 ACADEMIC EXPERIENCE Genetics course Ponce School of Medicine Research Interests: Genetic and Metabolic Causes of Autism. Autism is a complex neurodevelopmental disorders with no specific etiology. Certain known metabolic diseases had been implied in the development of this disorder. My main interest is to identify the genes linked to Autism.GRANTS/SCHOLARLY ACTIVITIES Jarcho-Levin Syndrome: Review article. A. S. Cornier 1 , S. Carlo ¹.1 Genetic Division, Ponce School of Medicine, Ponce, PR. Current Opinion in Pediatrics. Dec 2003 Orthopedic Manifestation of Bardet-Biedl Syndrome. N. Ramírez 1, S. Carlo 2, L. Marrero 2, A.S. Cornier 2. 1 Department of Orthopedics, Mayaguez Medical Center, Mayaguez, PR; 2 Genetic Division, Ponce School of Medicine, Ponce, P.R. Journal of Pediatric Orthopedics. Accepted for publication June 2003. 3. Phenotype Characterization and Natural History of Spondylothoracic Dysplasia syndrome: a series of 27 cases. A. Santiago-Cornier, N. Ramírez-Lluch, J.Acevedo, S. Carlo, B. Korf. American Journal of Medical Genetics, Accepted for publication December,2002; publication date-pending. Serum Leptin Concentration and Lipid Profiles in Puertorrican Bardet-Biedl Syndrome. A. S.Cornier *1,6, S Carlo 2, J Acevedo 3, D Valencia 4, L Caban 5, T Frazer 5. Department of 1Biochemistry, 5Pharmacology, and 6Pediatrics, Ponce School of Medicine, Ponce, PR 00732; 2Department of Pediatrics, Mayaguez Medical Center, Mayaguez, PR 00680, 3Department of Nursing University of Puerto Rico at Arecibo, Arecibo, PR; 4Department of Pediatrics, University of Puerto Rico School of Medicine, San Juan, PR. American College of Endocrinology Meeting, New Orleans, Louisiana, August 1998 |
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