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Pinar Bayrak-Toydemir, M.D., Ph.D.

last modified 2008-04-29 16:06 — by Anna Peters

Assistant Medical Director, Molecular Genetics Laboratory

Pinar Bayrak-Toydemir, M.D., Ph.D.

Pinar Bayrak-Toydemir, M.D., Ph.D.

Contact Info

Email Address: pinar.bayrak-toydemir [at] aruplab.com

Office Phone Number: 801.538.2787 ex 3171

Location: ARUP Laboratories

Research Lab: ARUP Institute for Clinical and Experimental Pathology

Division: ARUP

Supporting Staff:   Jackie McCowen-Rose, B.F.A., B.S. in Ed.   Karolynn Braden   Martha Fowles   Anna Peters  

 

Titles:

  • Assistant Director, Molecular Genetics, ARUP Laboratories

About Pinar Bayrak-Toydemir, M.D., Ph.D.

She  has focued her research efforts on understanding the molecular genetic characteristics of Hereditary Hemorrhagic Telangiectasia (HHT) disease, an autosomal dominant vascular dysplasia.  Her research aims to identify additional gene(s) that cause HHT disease, to determine the roles of regulatory region mutations of known HHT genes, and to describe the genotype-phenotype correlation. 

She is also interested in detecting the deletions/duplications of the genes associated with cancer and development disorders.  Specifically,  she has focused on detecting deletions/duplications at the exonic level in mental retardation syndromes using an oligo-CGH array.

Another research interest of hers is using fetal DNA and fetal cells in maternal blood circulation as means of diagnosis for some genetic disorders.

Selected Publications

  • Peer Reviewed Publications
  • Toydemir PB, Elhan A, Tukun A, Toydemir R, Gurler A, Tuzuner A, Bokesoy I. (2000). Effects of factor V gene G1691A, methylenetetrahydrofolate reductase gene C677T, and prothombin gene G20210A mutations on deep venous thrombogenesis in Behcet's disease. J. Rheumatol, 27,2849-54.
  • Pergament E, Bayrak-Toydemir P. (2001). Polycystic kidney disease. Contemporary Ob-Gyn, 46:75-91.
  • Toydemir PB, Toydemir R, Bokesoy I. (2001). Whistling face syndrome with normal hands and feet. Am J Med Genet A, 102, 215 (Correspondence).
  • Pergament E, Bayrak-Toydemir P, Fiddler M. (2002). Sex ratio: a biological perspective of 'Sex and the City'. Reproductive BioMedicine Online, 5:43-6.
  • Fiddler, MB, Bayrak-Toydemir P, Pergament E. (2002). To clone or not to clone: who will answer the question? Differentiation, 69(4-5):182-3.
  • Bayrak-Toydemir P, Pergament E, Fiddler M. (2003). Are fetal cells in maternal plasma really there? We think they are. J Hum Genet, 48(12):665-7.
  • Bayrak-Toydemir P, Pergament E, Fiddler M. (2003). Applying a test system for discriminating fetal from maternal cells. Prenat Diagn, 23(8):619-24.
  • Bayrak-Toydemir P, McDonald J, Markewitz B, Lewin S, Miller F, Chou LS, Gedge F, Tang W, Coon H, Mao R. (2006). Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations. Am J Med Genet A, 140(5):463-70.
  • Bayrak-Toydemir P, McDonald J, Akarsu N, Toydemir RM, Calderon F, Tuncali T, Tang W, Miller F, Mao R. (2006). A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7. Am J Med Genet A, 140A,2155.
  • Toydemir R, Krakowiak P, Bayrak-toydemir P, Jorde L, Longo N, Barnshad M. (2006). Camptodactyly and hearing loss caused by a novel loss-of-function mutation in FGRFR3. Am J Hum Genet.
  • Vandersteen JG, Bayrak-Toydemir P, Wittwer CT. Eliminating common variants in heteroduplex scanning by high-resolution melting. Clin Chem 2007 Jul; 53(7):1191-8. Epub 2007 May 24.
  • All Publications: Click Here

Honors and Awards

  • 2006 Dr. Robert I. White Jr. Young Clinician's Award - International HHT Foundation.

Professional Education

  • 2005 Clinical Molecular Genetics Fellowship, University of Utah, Salt Lake City, Utah.
  • 1999 Ph.D. University of Ankara (Human Genetics) Ankara, Turkey
  • 1991 M.D. University of Ankara, Ankara, Turkey