Pinar Bayrak Toydemir
Affiliation: ARUP Institute for Clinical and Experimental Pathology
- Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a modelPinar Bayrak-Toydemir
Department of Pathology, University of Utah, Salt Lake City, USA
Exp Mol Pathol 85:45-9. 2008..Other parameters such as amino acid severity predictions, ortholog and paralog comparisons and functional assays can be included in the analysis to increase the evidence of causality...
- Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutationsFriederike Gedge
Associated Regional and University Pathologists, Institute of Clinical and Experimental Pathology, Salt Lake City, Utah, USA
J Mol Diagn 9:258-65. 2007..We have confirmed the occurrence of de novo mutations in three patients. Our results also show that temperature gradient capillary electrophoresis is an efficient mutation screening method...
- Identifying common genetic variants by high-resolution meltingJoshua G Vandersteen
Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
Clin Chem 53:1191-8. 2007..Heteroduplex scanning techniques usually detect all heterozygotes, including common variants not of clinical interest...
- Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestationsPinar Bayrak-Toydemir
Department of Pathology, University of Utah, Salt Lake City, Utah 84108, USA
Am J Med Genet A 140:463-70. 2006..We conclude that HHT2 has a later onset than HHT1 and the former may disproportionately involve smaller vessels in tissues with more significant vascular remodeling...
- A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7Pinar Bayrak-Toydemir
Associated Regional and University Pathologists ARUP, Institute of Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA
Am J Med Genet A 140:2155-62. 2006..Further studies of the candidate region and the identification of the gene responsible for the vascular anomalies in this family will add to our understanding of vascular morphogenesis and related disorders...
- A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndromeReha M Toydemir
Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
Am J Hum Genet 79:935-41. 2006..R621H substitution in the tyrosine kinase domain and partial loss of FGFR3 function. These findings indicate that abnormal FGFR3 signaling can cause human anomalies by promoting as well as inhibiting endochondral bone growth...
- Applying a test system for discriminating fetal from maternal cellsPinar Bayrak-Toydemir
Reprogenetics Research, Inc, Chicago, Illinois, USA
Prenat Diagn 23:619-24. 2003..The objectives of this study were to enhance and apply a simple system capable of testing the capacity of putative, gender-independent fetal cell markers, individually and in combination, to discriminate between fetal and maternal cells...
- Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for cliniciansPinar Bayrak-Toydemir
Department of Pathology, Associated Regional University Pathologists ARUP, University of Utah, 50 N Medical Drive, Salt Lake City, UT 84132, USA
Genet Med 6:175-91. 2004....
- Hereditary hemorrhagic telangiectasiaJamie McDonald
Haematologica 90:728-32. 2005