Silvana Guioli

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

Jamie W. Foster, M. Dominguez-Steglich, Silvana Guioli et al. · Nature · 1994 · 1.6K citations

Developmental Anomaly, Developmental Biology, Mendelian Disorder +10

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 · 858 citations

Adrenal Gland, Signal Transduction, Pituitary Gland +10

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 · 850 citations

Developmental Biology, Molecular Neuroscience, Mendelian Disorder +14

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 · 767 citations

Adrenal Gland, Developmental Biology, Cell Division +10

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

Barbara Bardoni, Elena Zanaria, Silvana Guioli et al. · Nature Genetics · 1994 · 586 citations

Spermatogenesis, Cytogenetics, Genetics +16