Literature DB >> 22209734

Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening.

Steven Keiles1, Ruth Koepke, Richard Parad, Martin Kharrazi.   

Abstract

We examined the relation between the number of (TG) repeats at the (IVS8)-(TG)m(T)5 locus of the CFTR gene with neonatal serum immunoreactive trypsinogen (IRT) and sweat chloride (SC) concentrations in hypertrypsinogenemic infants with genotype ΔF508-9T/5T identified by California cystic fibrosis newborn screening. SC and IRT distributions increased with increasing (TG) repeats.
Copyright © 2011 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.

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Year:  2011        PMID： 22209734     DOI： 10.1016/j.jcf.2011.11.010

Source DB:  PubMed          Journal:  J Cyst Fibros        ISSN： 1569-1993            Impact factor:   5.482


  3 in total

1.  Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.

Authors:  Elinor Langfelder-Schwind; Barbara Karczeski; Michelle N Strecker; Joy Redman; Elaine A Sugarman; Christina Zaleski; Trisha Brown; Steven Keiles; Amy Powers; Sumheda Ghate; Rebecca Darrah
Journal:  J Genet Couns       Date:  2013-09-07       Impact factor: 2.537

2.  Phenotypes of California CF Newborn Screen-Positive Children with CFTR 5T Allele by TG Repeat Length.

Authors:  Danieli Barino Salinas; Colleen Azen; Suzanne Young; Thomas G Keens; Martin Kharrazi; Richard B Parad
Journal:  Genet Test Mol Biomarkers       Date:  2016-07-22

3.  Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.

Authors:  Lisa Prach; Ruth Koepke; Martin Kharrazi; Steven Keiles; Danieli B Salinas; Maria Carmen Reyes; Mark Pian; Harry Opsimos; Kimberly N Otsuka; Karen Ann Hardy; Carlos E Milla; Jacquelyn M Zirbes; Bradley Chipps; Susan O'Bra; Muhammad M Saeed; Reddivalam Sudhakar; Susan Lehto; Dennis Nielson; Gregory F Shay; Mary Seastrand; Sanjay Jhawar; Bruce Nickerson; Christopher Landon; Ann Thompson; Eliezer Nussbaum; Terry Chin; Henry Wojtczak
Journal:  J Mol Diagn       Date:  2013-06-28       Impact factor: 5.568
  3 in total

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