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Faculty Detail     Name EDWARD J LOSE   Campus Address KAUL 210 Zip 0024 Phone 205-934-9544 E-mail elose@uab.edu Other websites

Faculty Appointment(s) Appointment Type Department Division Rank Primary  Genetics   Clinical Genetics Assistant Professor Secondary  Pediatrics   Ped - General Pediatrics Assistant Professor

Graduate Biomedical Sciences Affiliations Integrative Biomedical Sciences

Biographical Sketch  1980 BS Spring Hill College 1984 MD Univ. South Alabama 1989 Pediatrics UT Southwestern Medical Center Dallas, TX 1990 Developmental Biology Stanford University Medical Center Palo Alto, CA 1993 Genetics Harvard Combined Genetics The Children's Hospital Boston, MA

Research/Clinical Interest Title Clinical Genetics, Dysmorphology Description Down syndrome clinical care adults and children

Selected Publications  Publication PUBMEDID Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. Mikhail FM, Lose EJ, Robin NH, Descartes MD, Rutledge KD, Rutledge SL, Korf BR, Carroll AJ. Am J Med Genet A. 2011 Oct;155A(10):2386-96.  22031302  BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome. Reis LM, Tyler RC, Schilter KF, Abdul-Rahman O, Innis JW, Kozel BA, Schneider AS, Bardakjian TM, Lose EJ, Martin DM, Broeckel U, Semina EV. Hum Genet. 2011 Oct;130(4):495-504. Epub 2011 Feb 22.   21340693  Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication. Burnside RD, Lose EJ, Domínguez MG, Sánchez-Corona J, Rivera H, Carroll AJ, Mikhail FM. Am J Med Genet A. 2009 Jul;149A(7):1516-22.   19533774  The emerging role of primary care in genetics. Lose EJ. Curr Opin Pediatr. 2008 Dec;20(6):634-8.   19005331  The use by Alabama pediatricians of genetics consultation in the evaluation of developmental delay. Chen MJ, Holt CL, Lose EJ, Robin NH. Am J Med Genet A. 2008 Feb 15;146A(4):421-5.   18203192  Caring for adults with pediatric genetic diseases: a growing need. Lose EJ, Robin NH. Curr Opin Pediatr. 2007 Dec;19(6):611-2. No abstract available.   18025925  Chromosome mapping of the murine syndecan gene. Oettinger HF, Streeter H, Lose E, Copeland NG, Gilbert DJ, Justice MJ, Jenkins NA, Mohandas T, Bernfield M. Genomics. 1991 Oct;11(2):334-8.   1769649  Biology of the syndecans: a family of transmembrane heparan sulfate proteoglycans. Bernfield M, Kokenyesi R, Kato M, Hinkes MT, Spring J, Gallo RL, Lose EJ. Annu Rev Cell Biol. 1992;8:365-93. Review. No abstract available.   1335744

Keywords Down syndrome, autism, cystic fibrosis, muscular dystrophy,satellite clinic Huntsville and Muscle Shoals, clinical genetics

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