Pinar Bayrak-Toydemir

Summary

Publications

  1. ncbi request reprint Effects of factor V gene G1691A, methylenetetrahydrofolate reductase gene C677T, and prothombin gene G20210A mutations on deep venous thrombogenesis in Behçet's disease
    P B Toydemir
    Department of Medical Biology, Faculty of Medicine, University of Ankara, Turkey
    J Rheumatol 27:2849-54. 2000
  2. ncbi request reprint Are fetal cells in maternal plasma really there? We think they are
    Pinar Bayrak-Toydemir
    Reprogenetics Research Inc, Chicago, Illinois, USA
    J Hum Genet 48:665-7. 2003
  3. 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
  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. 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
  6. pmc BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia
    Whitney L Wooderchak-Donahue
    Associated Regional and University Pathologists Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
    Am J Hum Genet 93:530-7. 2013
  7. 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
  8. pmc Mosaicism in Stickler syndrome
    David A Stevenson
    Dept of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
    Eur J Med Genet 55:418-22. 2012
  9. doi request reprint Verification of multiplex ligation-dependent probe amplification probes in the absence of positive samples
    Whitney Wooderchak-Donahue
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA
    Genet Test Mol Biomarkers 15:793-9. 2011
  10. pmc Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation
    Jamie McDonald
    Associated Regional and University Pathologists ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA
    J Mol Diagn 11:569-75. 2009

Collaborators

Detail Information

Publications31

  1. ncbi request reprint Effects of factor V gene G1691A, methylenetetrahydrofolate reductase gene C677T, and prothombin gene G20210A mutations on deep venous thrombogenesis in Behçet's disease
    P B Toydemir
    Department of Medical Biology, Faculty of Medicine, University of Ankara, Turkey
    J Rheumatol 27:2849-54. 2000
    ..Hyperactivity in the coagulation pathway, hypoactive anticoagulation mechanisms, or faulty fibrinolysis generate a tendency for thrombogenesis. Mutations of the genes involved in these pathways may cause predisposition to thrombosis...
  2. ncbi request reprint Are fetal cells in maternal plasma really there? We think they are
    Pinar Bayrak-Toydemir
    Reprogenetics Research Inc, Chicago, Illinois, USA
    J Hum Genet 48:665-7. 2003
    ..5% of aneuploid pregnancies. There was an average yield of one fetal cell/1,993 maternal cells in normal pregnancies, which increased to one in 994, in aneuploid pregnancies...
  3. 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...
  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. 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...
  6. pmc BMP9 mutations cause a vascular-anomaly syndrome with phenotypic overlap with hereditary hemorrhagic telangiectasia
    Whitney L Wooderchak-Donahue
    Associated Regional and University Pathologists Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
    Am J Hum Genet 93:530-7. 2013
    ..These data confirm a genetic cause of a vascular-anomaly syndrome that has phenotypic overlap with HHT. ..
  7. 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...
  8. pmc Mosaicism in Stickler syndrome
    David A Stevenson
    Dept of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA
    Eur J Med Genet 55:418-22. 2012
    ..This scenario encourages consideration of molecular testing in seemingly unaffected parents for recurrence risks and potential screening for mild age-related manifestations...
  9. doi request reprint Verification of multiplex ligation-dependent probe amplification probes in the absence of positive samples
    Whitney Wooderchak-Donahue
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA
    Genet Test Mol Biomarkers 15:793-9. 2011
    ..Incorporating this methodology in the analytical validation process will help ensure that MLPA results are interpreted correctly...
  10. pmc Multiple sequence variants in hereditary hemorrhagic telangiectasia cases: illustration of complexity in molecular diagnostic interpretation
    Jamie McDonald
    Associated Regional and University Pathologists ARUP Laboratories, 500 Chipeta Way, Salt Lake City, UT 84108, USA
    J Mol Diagn 11:569-75. 2009
    ....
  11. doi request reprint Hemangioma is associated with atopic disease
    J Fredrik Grimmer
    Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, Utah, USA
    Otolaryngol Head Neck Surg 146:206-9. 2012
    ..Understanding the relationship between atopic disease and infantile hemangioma may elucidate the pathophysiology of each and ultimately lead to better treatment options. ..
  12. pmc A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel- clinical diagnostics perspective
    Whitney L Wooderchak-Donahue
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, USA
    BMC Med Genomics 5:50. 2012
    ..In this setting next generation sequencing (NGS) offers several advantages over traditional molecular techniques...
  13. pmc Characterization of large genomic deletions in the FBN1 gene using multiplex ligation-dependent probe amplification
    Larissa V Furtado
    Department of Pathology, University of Utah Health Science Center, Salt Lake City, UT 84108, USA
    BMC Med Genet 12:119. 2011
    ....
  14. 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...
  15. pmc Cystic fibrosis testing in a referral laboratory: results and lessons from a six-year period
    Perry G Ridge
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    J Clin Bioinforma 3:3. 2013
    ..abstract:..
  16. pmc 5'UTR mutations of ENG cause hereditary hemorrhagic telangiectasia
    Kristy Damjanovich
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA
    Orphanet J Rare Dis 6:85. 2011
    ..Knowing its vital role in transcription and translation control, we were prompted to investigate the 5'untranslated region (UTR) of ENG...
  17. doi request reprint RASA1 analysis: clinical and molecular findings in a series of consecutive cases
    Whitney Wooderchak-Donahue
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT 84108, USA
    Eur J Med Genet 55:91-5. 2012
    ..The clinical diagnostic mutation detection rate among all samples sent for RASA1 testing was 29% (10/35) which increases to approximately 39% (10/26) if patients without CMs are excluded...
  18. ncbi request reprint 4p terminal deletion and 11p subtelomeric duplication detected by genomic microarray in a patient with Wolf-Hirschhorn syndrome and an atypical phenotype
    David A Stevenson
    Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, Utah, USA
    J Pediatr 145:840-2. 2004
    ..Terminal 4p deletions cause Wolf-Hirschhorn syndrome, but the phenotype probably was modified by the paternally derived 11p duplication. This emphasizes the clinical utility of genomic microarray...
  19. 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...
  20. ncbi request reprint Paternal uniparental disomy of chromosome 14: confirmation of a clinically-recognizable phenotype
    David A Stevenson
    Division of Medical Genetics, Department of Pediatrics, University of Utah, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 130:88-91. 2004
    ..Our patient and the previously reported cases support a discrete recognizable phenotype for paternal UPD for chromosome 14...
  21. doi request reprint Capillary electrophoresis for the detection of Fragile X expanded alleles
    Rong Mao
    Pathology Department, University of Utah School of Medicine, Salt Lake City, UT, USA
    Methods Mol Biol 919:275-85. 2013
    ..Here we describe an application using capillary electrophoreses for screening the Fragile X expanded alleles to demonstrate the application...
  22. doi request reprint Design and analytical validation of clinical DNA sequencing assays
    Genevieve Pont-Kingdon
    ARUP Laboratories, Institute of Clinical and Experimental Pathology, Salt Lake City, Utah, USA
    Arch Pathol Lab Med 136:41-6. 2012
    ..DNA sequencing is the method of choice for mutation detection in many genes...
  23. doi request reprint A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation
    Larissa V Furtado
    Department of Pathology, University of Utah Health Sciences Center, Salt Lake City, Utah 84132, USA
    Am J Med Genet A 152:2838-44. 2010
    ..141G>T, p.W47C). The unaffected mothers were heterozygous for the c.141G>T mutation arid showed random X-inactivation pattern upon...
  24. doi request reprint Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes
    Cecily P Vaughn
    ARUP Institute for Clinical and Experimental Pathology, University of Utah Health Sciences Center, Salt Lake City, UT 84108, USA
    Hum Mutat 31:588-93. 2010
    ..Our data also support the use of IHC screening to direct germline testing of PMS2...
  25. doi request reprint Mosaic ACVRL1 and ENG mutations in hereditary haemorrhagic telangiectasia patients
    D Hunter Best
    Department of Pathology, University of Utah School of Medicine, Salt Lake City, Utah, USA
    J Med Genet 48:358-60. 2011
    ....
  26. 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
    ....
  27. 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...
  28. pmc Candidate locus analysis for PHACE syndrome
    Sheri Mitchell
    ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah 84108, USA
    Am J Med Genet A 158:1363-7. 2012
    ....
  29. doi request reprint Familial clustering of hemangiomas
    J Fredrik Grimmer
    Division of Otolaryngology, Department of Surgery, University of Utah, Salt Lake City, UT 84132, USA
    Arch Otolaryngol Head Neck Surg 137:757-60. 2011
    ..To assess the degree of relationship among individuals with hemangiomas and to evaluate the relative risk (RR) for family members of individuals with hemangiomas...
  30. doi request reprint Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis
    Jamie McDonald
    HHT Center, University of Utah Medical Center, Salt Lake City, UT 84132 2140, USA
    Genet Med 13:607-16. 2011
    ....
  31. ncbi request reprint Hereditary hemorrhagic telangiectasia
    Jamie McDonald
    Haematologica 90:728-32. 2005