Latest papers

Genetic control of pubertal timing.

Biallelic mutations in the prokineticin-2 gene in two sporadic cases of Kallmann syndrome.

The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.

An interesting case of hypogonadism.

A review of Kallmann syndrome: genetics, pathophysiology, and clinical management.

Kallmann's syndrome: a comparison of the reproductive phenotypes in men carrying KAL1 and FGFR1/KAL2 mutations.

[Kallmann syndrome: a historical [corrected] clinical and molecular review].

Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome.

Clinical manifestations of impaired GnRH neuron development and function.

Testicular expressed genes are missing in familial X-Linked Kallmann syndrome due to two large different deletions in daughter's X chromosomes.

Prokineticin-signaling pathway.

Sex, smell and vasculitis: Henoch-Schönlein purpura in Kallmann's syndrome.

Normal intelligence and social interactions in a male patient despite the deletion of NLGN4X and the VCX genes

Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1.

Kallmann's syndrome.

Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.

Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome.

Reversal of idiopathic hypogonadotropic hypogonadism.

Gonadotropin-releasing hormone neuronal migration.

The genetics of hypogonadotropic hypogonadism.