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Archives of Endocrinology and Metabolism|May 16, 2019
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discoveryFernanda A Correa, Marilena Nakaguma, João L O Madeira, et al.Clinical Endocrinology|March 23, 2016
HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotypeQing Fang, Anna Flavia Figueredo Benedetti, Qianyi Ma, et al.Growth Hormone & IGF Research : Official Journal of the Growth Hormone Research Society and the International IGF Research Society|August 14, 2014
Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohortAndria C V Lido, Marcela M França, Fernanda A Correa, et al.Clinical Endocrinology|December 22, 2017
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypesFernanda A Correa, Alexander Al Jorge, Marilena Nakaguma, et al.Archives of Endocrinology and Metabolism|February 8, 2018
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencingFernanda A Correa, Marcela M França, Qing Fang, et al.Journal of the Endocrine Society|December 22, 2017
Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone DeficienciesFernanda A Correa, Paulo H M Bianchi, Marcela M Franca, et al.European Journal of Endocrinology|June 3, 2016
A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD)João L O Madeira, Alexander A L Jorge, Regina M Martin, et al.Endocrine Connections|March 12, 2015
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficienciesFernanda A Correa, Ericka B Trarbach, Cintia Tusset, et al.Clinical Endocrinology|July 23, 2017
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutationsJoao Lo Madeira, Mirian Y Nishi, Marilena Nakaguma, et al.Endocrine Connections|May 11, 2023
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disordersNathalia G B P Ferreira, Joao L O Madeira, Peter Gergics, et al.Pageof 3