Guiochon-Mantel, Anne

Top Publications

Top Publications Authored or Co-Authored by "Guiochon-Mantel, Anne"

• Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation

  New England Journal of Medicine, Volume 360, No. 26, Year 2009, Citations 253
• INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy

  New England Journal of Medicine, Volume 365, No. 25, Year 2011, Citations 237
• Kisspeptin restores pulsatile LH secretion in patients with neurokinin B signaling deficiencies: Physiological, pathophysiological and therapeutic implications

  Neuroendocrinology, Volume 97, No. 2, Year 2013, Citations 142
• 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
• Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

  Journal of Medical Genetics, Volume 59, No. 6, Year 2022, Citations 91