Steven Keiles

Summary

Publications

  1. ncbi 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. ncbi 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 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. ncbi 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 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. ncbi 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 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. ncbi 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...