Pendred syndrome

This publication has 98 references indexed in Scilit:

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  Proceedings of the National Academy of Sciences, 2012
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• Mutation Analysis of SLC26A4 for Pendred Syndrome and Nonsyndromic Hearing Loss by High-Resolution Melting
  The Journal of Molecular Diagnostics, 2011
• Calcium Oxalate Stone Formation in the Inner Ear as a Result of an Slc26a4 Mutation
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• Genetics and phenomics of Pendred syndrome
  Molecular and Cellular Endocrinology, 2010
• Regulation of TMEM16A Chloride Channel Properties by Alternative Splicing
  Journal of Biological Chemistry, 2009
• Mutations of KCNJ10 Together with Mutations of SLC26A4 Cause Digenic Nonsyndromic Hearing Loss Associated with Enlarged Vestibular Aqueduct Syndrome
  The American Journal of Human Genetics, 2009
• Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA
  Proceedings of the National Academy of Sciences, 2008
• The Slc26a4 transporter functions as an electroneutral Cl⁻/I⁻/HCO₃⁻ exchanger: role of Slc26a4 and Slc26a6 in I⁻ and HCO₃⁻ secretion and in regulation of CFTR in the parotid duct
  The Journal of Physiology, 2008
• Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS)
  Nature Genetics, 1997