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Faculty Detail    
Name MARIA DEL CARMEN DESCARTES
  
Campus Address VH VH1L
Phone  (20-5) -973
E-mail  mdescart@uab.edu
Other websites
     


Faculty Appointment(s)
Appointment Type Department Division Rank
Primary  Genetics   Clinical Genetics Professor
Secondary  Pediatrics   Pediatrics Chair Office Professor
Center  Civitan International Research Center  Civitan International Research Center Professor
Center  Comp Arthritis, MSK, Bone & Autoimmunity Ctr  Comp Arthritis, MSK, Bone & Autoimmunity Ctr Professor
Center  General Clinical Research Center  Minority Health & Research Center Professor

Graduate Biomedical Sciences Affiliations
Integrative Biomedical Sciences 

Biographical Sketch 
Dr. Descartes is a pediatrician and geneticist at the University of Alabama at Birmingham. She did her fellowship in genetics at Baylor College of Medicine in Houston, Texas, after which she accepted a faculty position in the Department of Genetics at UAB in 1991. Dr. Descartes is board certified both by the American Academy of Pediatrics and the American Board of Medical Genetics in Clinical and Medical Biochemical Genetics. Her clinical practice is primarily as a general geneticist with expertise in dysmorphology, patients with lysosomal storage disorders and inherited disorders of metabolism. She is the director of the UAB Bone Dysplasia and Connective Tissue Disorder Clinic for Adults and Children.



Selected Publications 
Publication PUBMEDID
Lyle R, Béna F, Gagos S, Gehrig C, Lopez G, Schinzel A, Lespinasse J, Bottani A, Dahoun S, Taine L, Doco-Fenzy M, Cornillet-Lefèbvre P, Pelet A, Lyonnet S, Toutain A, Colleaux L, Horst J, Kennerknecht I, Wakamatsu, Descartes M, Franklin JC, Florentin-Arar L, Kitsiou S, Aït Yahya-Graison E, Constantine M, Sinet P, Delabar JM, and Antonarakis SE. Genotype-phenotype correlations in Down syndrome indentified by array CGH in 30 cases of partial trisomy and partial monosomy 21. European Journal of Human Genetics, 4:454-66, 2009.

Tesla C, Korf BR, Holt L, Prucka S, Robin N, Descartes M, Lose E, Stembridge A, Epstein M, Warren S. AkstheGeneticist: Five Years of Online Experience. Genetics in Medicine. 11:294-304, 2009.

Descartes M, Royal SA, Franklin J, Goodin K, Mancuso M, Mikhail FM, Holt L. New syndrome with Stargardt macular degeneration, agenesis of the corpus callosum, mental retardation and dysmorphic features: a case report of two siblings. Clinical Dysmorphology. 18(3):178-80, 2009.

Ji JQ, Dimmock D, Tang LY, Descartes M, Gomez R, Rutledge SL, Schmitt ES, Wong LJ.
A novel c.592-4_c.592-3delTT mutation in DGUOK gene causes exon skipping.
Mitochondrion. 2010 Mar;10(2):188-91. Epub 2009 Nov 10.

Tischfield MA, Baris H, Gupta ML, Meindl A, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi E, Pomeroy C, Hunter D, Soul J, Newlin A, Sabol LJ, Doherty E, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong A, Levin AL, Michael T. Geraghty MT, Descartes M, Flaherty M, Jamieson R, Moeller HU, Kerwin J, Lindsay S, Rudolph G, Pellman D, Engle EC. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell. 140(1):74-87, 2010.

Nimmo G, Monsonego S, Descartes M, Franklin J, Steinberg S, Braverman N.Rhizomelic chrondrodysplasia punctata type 2 resulting from paternal isodisomy of chromosome 1.
Am J Med Genet A.152A(7):1812-7, 2010.

Mikhail F, Lose E, Robin N, Descartes M, Rutledge K, Rutledge S, Korf B, Carroll A.
Clinically relevant single gene or intragenic deletions encompassing critical neurodevelopmental genes in patients with developmental delay, mental retardation, and/or autism spectrum disorders. Am J Med Genet A. 155A(10):2386-96, 2011.

Descartes M, McGrath T, Bebin M. Monosomy1p36.3 and Trisomy 19p13.3 in a child with
Periventricular Nodular Heteropia. Pediatr Neurol. 45(4):274-8, 2011.

Lamb AN, Rosenfeld JA, Neill NJ, Descartes M; et al. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat. 33(4):728-40, 2012.

Wiszniewska J. Shaw C, Stankiewicz P, Bi W, Knag SH, Pursley AN, Lalani S, Hixson P, Gambin T, Tsai C, Bock HG, Descartes M, Probst F, Sacaglia F, Beaudet AL, Luspki JR, Eng C, Cheung SW, Bacino C, Patel A. Combined array CGH plus SNP genome analyses for optimized clinical diagnostics. Submitted to Eur J Hum Genet, 2013.

Mikhail FM, Burnside RD, Rush B, Ibrahim J, Godshalk R, Rutledge SL, Robin NH, Descartes M, Carroll AJ The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single entity: a proposed categorization system. Genet in Med, June, 2013.