Hardelin, Jean Pierre

Top Publications

Top Publications Authored or Co-Authored by "Hardelin, Jean Pierre"

• A comparative phenotypic study of Kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes

  Journal of Clinical Endocrinology and Metabolism, Volume 95, No. 2, Year 2010, Citations 131
• Defective migration of neuroendocrine GnRH cells in human arrhinencephalic conditions

  Journal of Clinical Investigation, Volume 120, No. 10, Year 2010, Citations 88
• Pendred syndrome: Phenotypic variability in two families carrying the same PDS missense mutation

  American Journal of Medical Genetics, Volume 90, No. 1, Year 2000, Citations 72
• EPS8, encoding an actin-binding protein of cochlear hair cell stereocilia, is a new causal gene for autosomal recessive profound deafness

  Orphanet Journal of Rare Diseases, Volume 9, No. 1, Article 55, Year 2014, Citations 57
• The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells

  EMBO Molecular Medicine, Volume 6, No. 7, Year 2014, Citations 53