L. Carvalho

Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum

Jun Z. Li, S. Camper, L. Montenegro, 2021, Genes.

Frequency of the allelic variant (Trp8Arg/Ile15Thr) of the luteinizing hormone gene in a Brazilian cohort of healthy subjects and in patients with hypogonadotropic hypogonadism.

B. Mendonca, I. Arnhold, A. Billerbeck, 2005, Clinics.

Vasculometabolic effects in patients with congenital growth hormone deficiency with and without GH replacement therapy during adulthood

L. Bortolotto, B. Mendonca, I. Arnhold, 2020, Pituitary.

Cushing disease due to a somatic USP8 mutation in a patient with evolving pituitary hormone deficiencies due to a germline GH1 splicing variant

S. Rosemberg, A. Jorge, I. Arnhold, 2022, Archives of endocrinology and metabolism.

Relatively high frequency of non‐synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly

B. Mendonca, A. Jorge, I. Arnhold, 2013, Clinical endocrinology.