Familial gonadotropin-releasing hormone resistance and hypogonadotropic hypogonadism in a family with multiple affected individuals

A mutation in the human leptin receptor gene causes obesity and pituitary dysfunction

Karine Clément, Christian Vaisse, Najiba Lahlou et al. · Nature · 1998 · 2.4K citations

Medicine, Endocrinology, Genetics +13

A leptin missense mutation associated with hypogonadism and morbid obesity

Andreas Strobel, Tarik Issad, Luc Camoin et al. · Nature Genetics · 1998 · 1.2K citations

Medicine, Endocrinology, Genetics +14

An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita

Elena Zanaria, Françoise Muscatelli, Barbara Bardoni et al. · Nature · 1994 · 860 citations

Medicine, Endocrinology, Molecular Genetics +16

A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

Brunella Franco, Silvana Guioli, Antonella Pragliola et al. · Nature · 1991 · 851 citations

Life Sciences, Genetics, Molecular Genetics +13

Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

Françoise Muscatelli, Tim M. Strom, Ann P. Walker et al. · Nature · 1994 · 769 citations

Medicine, Endocrinology, Genetics +16