B. B. Mendonca

Clinical and molecular analysis of human reproductive disorders in Brazilian patients (2004)

Latronico,A.C., Costa,E.M.F., Domenice,S., Correa,R.V., Kohek,M.B.F., Arnhold,I.J.P., ...

Several genes that influence the development and function of the hypothalamic-pituitary-gonadal-axis (HPG) have been identified. These genes encode an array of transcription factors, matrix proteins,...

Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients (2004)

Domenice,S., Corrêa,R.V., Costa,E.M.F., Nishi,M.Y., Vilain,E., Arnhold,I.J.P., ...

In most mammals, male development is triggered by the transient expression of the SRY gene, which initiates a cascade of gene interactions ultimately leading to the formation of a testis from the...

A homozygous mutation in HESX1 is associated with evolving hypopituitarism due to impaired repressor-corepressor interaction (2003)

Carvalho, L.R., Woods, K.S., Mendonca, B.B., Marcal, N., Zamparini, A.L., Stifani, S., ...

The paired-like homeobox gene expressed in embryonic stem cells Hesx1/HESX1 encodes a developmental repressor and is expressed in early development in a region fated to form the forebrain, with...

17Beta-hydroxysteroid dehydrogenase-3 deficiency: diagnosis, phenotypic variability, population genetics, and worldwide distribution of ancient and de novo mutations (1999)

Boehmer, A.L., Halley, D.J., Ruiter, P.E. De, Niermeijer, M.F., Andersson, S., Jong, F.H. De, ...

17Beta-hydroxysteroid dehydrogenase-3 (17betaHSD3) deficiency is an autosomal recessive form of male pseudohermaphroditism caused by mutations in the HSD17B3 gene. In a nationwide study on male...

Molecular genetics of steroid 5 alpha-reductase 2 deficiency.

Thigpen, A E, Davis, D L, Milatovich, A, Mendonca, B B, Imperato-McGinley, J, Griffin, J E, ...

Two isozymes of steroid 5 alpha-reductase encoded by separate loci catalyze the conversion of testosterone to dihydrotestosterone. Inherited defects in the type 2 isozyme lead to male...

Molecular genetics of steroid 5 alpha-reductase 2 deficiency.

Thigpen, A E, Davis, D L, Milatovich, A, Mendonca, B B, Imperato-McGinley, J, Griffin, J E, ...

Two isozymes of steroid 5 alpha-reductase encoded by separate loci catalyze the conversion of testosterone to dihydrotestosterone. Inherited defects in the type 2 isozyme lead to male...

Mutation analysis of the 2 kb 5' to SRY in XY females and XY intersex subjects.

Kwok, C, Tyler-Smith, C, Mendonca, B B, Hughes, I, Berkovitz, G D, Goodfellow, P N, ...

Mutations in the Y linked testis determining gene SRY cause 46,XY sex reversal. However, only about 15% of cases of 46,XY sex reversal are accounted for by mutations in SRY. In this study we have...