Pinar Bayrak Toydemir

Summary

Affiliation: ARUP Institute for Clinical and Experimental Pathology
Country: USA

Publications

  1. doi request reprint Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model
    Pinar Bayrak-Toydemir
    Department of Pathology, University of Utah, Salt Lake City, USA
    Exp Mol Pathol 85:45-9. 2008
  2. pmc Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations
    Friederike Gedge
    Associated Regional and University Pathologists, Institute of Clinical and Experimental Pathology, Salt Lake City, Utah, USA
    J Mol Diagn 9:258-65. 2007
  3. ncbi request reprint Identifying common genetic variants by high-resolution melting
    Joshua G Vandersteen
    Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84132, USA
    Clin Chem 53:1191-8. 2007
  4. ncbi request reprint Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations
    Pinar Bayrak-Toydemir
    Department of Pathology, University of Utah, Salt Lake City, Utah 84108, USA
    Am J Med Genet A 140:463-70. 2006
  5. ncbi request reprint A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7
    Pinar 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
  6. pmc A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
    Reha M Toydemir
    Department of Human Genetics, University of Utah, Salt Lake City, UT, USA
    Am J Hum Genet 79:935-41. 2006
  7. ncbi request reprint Applying a test system for discriminating fetal from maternal cells
    Pinar Bayrak-Toydemir
    Reprogenetics Research, Inc, Chicago, Illinois, USA
    Prenat Diagn 23:619-24. 2003
  8. ncbi request reprint Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians
    Pinar 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
  9. ncbi request reprint Hereditary hemorrhagic telangiectasia
    Jamie McDonald
    Haematologica 90:728-32. 2005

Collaborators

  • Pinar Bayrak-Toydemir
  • Rong Mao
  • Robert A Palais
  • Lan Szu Chou
  • Jamie McDonald
  • Joshua G Vandersteen
  • Friederike Gedge
  • Reha M Toydemir
  • Elaine Lyon
  • Amit Phansalkar
  • Fernanda Calderon
  • Carl T Wittwer
  • Michael J Bamshad
  • Patrycja A Krakowiak
  • Frank G Whitby
  • John C Carey
  • Anna E Brassington
  • David H Viskochil
  • Nicola Longo
  • Lynn B Jorde

Detail Information

Publications9

  1. doi request reprint Likelihood ratios to assess genetic evidence for clinical significance of uncertain variants: hereditary hemorrhagic telangiectasia as a model
    Pinar 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...
  2. pmc Clinical and analytical sensitivities in hereditary hemorrhagic telangiectasia testing and a report of de novo mutations
    Friederike 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...
  3. ncbi request reprint Identifying common genetic variants by high-resolution melting
    Joshua 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...
  4. ncbi request reprint Genotype-phenotype correlation in hereditary hemorrhagic telangiectasia: mutations and manifestations
    Pinar 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...
  5. ncbi request reprint A fourth locus for hereditary hemorrhagic telangiectasia maps to chromosome 7
    Pinar 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...
  6. pmc A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
    Reha 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...
  7. ncbi request reprint Applying a test system for discriminating fetal from maternal cells
    Pinar 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...
  8. ncbi request reprint Hereditary hemorrhagic telangiectasia: an overview of diagnosis and management in the molecular era for clinicians
    Pinar 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
    ....
  9. ncbi request reprint Hereditary hemorrhagic telangiectasia
    Jamie McDonald
    Haematologica 90:728-32. 2005