Elka Jacobson-Dickman

Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice

John Falardeau, W. C. Chung, Andrew Beenken et al. · Journal of Clinical Investigation · 2008 · 392 citations · Full text

Fertility, Human Growth, Genetics +22

Loss-of-function mutation in the <i>prokineticin 2</i> gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism

Nelly Pitteloud, Chengkang Zhang, Duarte Pignatelli et al. · Proceedings of the National Academy of Sciences · 2007 · 261 citations · Full text

Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism

Taneli Raivio, Yisrael Sidis, Lacey Plummer et al. · The Journal of Clinical Endocrinology & Metabolism · 2009 · 100 citations · Full text

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations

Carine Villanueva, Elka Jacobson-Dickman, Cheng Xu et al. · Genetics in Medicine · 2014 · 73 citations · Full text

Developmental Anomaly, Thumb Hypoplasia, Urology +9

An ancient founder mutation in PROKR2 impairs human reproduction

Magdalena Avbelj Stefanija, Marc Jeanpierre, Gerasimos P. Sykiotis et al. · Human Molecular Genetics · 2012 · 39 citations · Full text