Steven Keiles

Summary

Publications

  1. ncbi request reprint Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis
    Steven Keiles
    Ambry Genetics, Aliso Viejo, CA 92656, USA
    Pancreas 33:221-7. 2006
  2. doi request reprint Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening
    Steven Keiles
    Ambry Genetics, Aliso Viejo, CA 92656, USA
    J Cyst Fibros 11:257-60. 2012
  3. ncbi request reprint Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening
    Anja Kammesheidt
    Ambry Genetics, 100 Columbia 200, Aliso Viejo, CA 92656, USA
    Genet Med 8:557-62. 2006
  4. pmc Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum
    Iris Schrijver
    Department of Pathology, L235, Stanford University Medical Center, Stanford, CA 94305, USA
    J Mol Diagn 7:289-99. 2005

Collaborators

Detail Information

Publications4

  1. ncbi request reprint Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis
    Steven Keiles
    Ambry Genetics, Aliso Viejo, CA 92656, USA
    Pancreas 33:221-7. 2006
    ..Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) and the serine protease inhibitor Kazal type 1 (SPINK1) genes are also associated with pancreatitis...
  2. doi request reprint Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening
    Steven Keiles
    Ambry Genetics, Aliso Viejo, CA 92656, USA
    J Cyst Fibros 11:257-60. 2012
    ..SC and IRT distributions increased with increasing (TG) repeats...
  3. ncbi request reprint Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening
    Anja Kammesheidt
    Ambry Genetics, 100 Columbia 200, Aliso Viejo, CA 92656, USA
    Genet Med 8:557-62. 2006
    ....
  4. pmc Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum
    Iris Schrijver
    Department of Pathology, L235, Stanford University Medical Center, Stanford, CA 94305, USA
    J Mol Diagn 7:289-99. 2005
    ..These results underscore the disparity in mutation identification between Caucasians and Hispanics and show utility for comprehensive diagnostic CFTR mutation analysis in this population...