PROP1 overexpression in corticotrophinomas: evidence for the role of PROP1 in the maintenance of cells committed to corticotrophic differentiation

por Araujo, Ricardo V, Chang, Claudia V, Cescato, Valter A. S., Fragoso, Maria Candida B. V., Bronstein, Marcello D, Mendonca, Berenice B, Arnhold, Ivo J. P., Carvalho, Luciani R S
Publicado 2013

Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

por Correa, Fernanda A., Nakaguma, Marilena, Madeira, João L. O., Nishi, Mirian Y., Abrão, Milena G., Jorge, Alexander A. L., Carvalho, Luciani R., Arnhold, Ivo J. P., Mendonça, Berenice B.
Publicado 2019

SUN-723 CDH2 Gene Analysis in a Cohort of Patients with Congenital Hypopituitarism

por Kertsz, Renata, Ferreira, Nathália, Madeira, João L o m, Benedetti, Anna Flavia Figueredo, Azevedo, Bruna, Bissegatto, Débora Delmonte, Camper, Sally, Mendonca, Berenice Bilharinho, Jorge, Alexander, Arnhold, Ivo J p, Carvalho, Luciani Renata Silveira
Publicado 2020

Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing

por Correa, Fernanda A., França, Marcela M., Fang, Qing, Ma, Qianyi, Bachega, Tania A., Rodrigues, Andresa, Ozel, Bilge A., Li, Jun Z., Mendonca, Berenice B., Jorge, Alexander A. L., Carvalho, Luciani R., Camper, Sally A., Arnhold, Ivo J. P
Publicado 2017

Insulin-like growth factor 1 gene (CA)n repeats and a variable number of tandem repeats of the insulin gene in Brazilian children born small for gestational age

por Coletta, Rocio R D, Jorge, Alexander A L, D' Alva, Catarina Brasil, Pinto, Emília M, Billerbeck, Ana Elisa C, Pachi, Paulo R, Longui, Carlos A, Garcia, Ricardo M, Boguszewski, Margaret, Arnhold, Ivo J P, Mendonca, Berenice B, Costa, Elaine M F
Publicado 2013

Successful Pregnancies After Adequate Hormonal Replacement in Patients With Combined Pituitary Hormone Deficiencies

por Correa, Fernanda A., Bianchi, Paulo H. M., Franca, Marcela M., Otto, Aline P., Rodrigues, Rodrigo J. M., Ejzenberg, Dani, Serafini, Paulo C., Baracat, Edmundo Chada, Francisco, Rossana P. V., Brito, Vinicius N., Arnhold, Ivo J. P., Mendonca, Berenice B., Carvalho, Luciani R.
Publicado 2017

Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

por Nakaguma, Marilena, Correa, Fernanda A, Santana, Lucas S, Benedetti, Anna F F, Perez, Ricardo V, Huayllas, Martha K P, Miras, Mirta B, Funari, Mariana F A, Lerario, Antonio M, Mendonca, Berenice B, Carvalho, Luciani R S, Jorge, Alexander A L, Arnhold, Ivo J P
Publicado 2019

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

por Correa, Fernanda A, Trarbach, Ericka B, Tusset, Cintia, Latronico, Ana Claudia, Montenegro, Luciana R, Carvalho, Luciani R, Franca, Marcela M, Otto, Aline P, Costalonga, Everlayny F, Brito, Vinicius N, Abreu, Ana Paula, Nishi, Mirian Y, Jorge, Alexander A L, Arnhold, Ivo J P, Sidis, Yisrael, Pitteloud, Nelly, Mendonca, Berenice B
Publicado 2015

The phenotypic spectrum associated with OTX2 mutations in humans

por Gregory, Louise C, Gergics, Peter, Nakaguma, Marilena, Bando, Hironori, Patti, Giuseppa, McCabe, Mark J, Fang, Qing, Ma, Qianyi, Ozel, Ayse Bilge, Li, Jun Z, Poina, Michele Moreira, Jorge, Alexander A L, Benedetti, Anna F Figueredo, Lerario, Antonio M, Arnhold, Ivo J P, Mendonca, Berenice B, Maghnie, Mohamad, Camper, Sally A, Carvalho, Luciani R S, Dattani, Mehul T
Publicado 2021

Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders

por Ferreira, Nathalia G B P, Madeira, Joao L O, Gergics, Peter, Kertsz, Renata, Marques, Juliana M, Trigueiro, Nicholas S S, Benedetti, Anna Flavia Figueredo, Azevedo, Bruna V, Fernandes, Bianca H V, Bissegatto, Debora D, Biscotto, Isabela P, Fang, Qing, Ma, Qianyi, Ozel, Asye B, Li, Jun, Camper, Sally A, Jorge, Alexander A L, Mendonça, Berenice B, Arnhold, Ivo J P, Carvalho, Luciani R
Publicado 2023

Diagnostic yield of a multigene sequencing approach in children classified as idiopathic short stature

por Andrade, Nathalia Liberatoscioli Menezes, Funari, Mariana Ferreira de Assis, Malaquias, Alexsandra Christianne, Collett-Solberg, Paulo Ferrez, Gomes, Nathalia L R A, Scalco, Renata, Dantas, Naiara Castelo Branco, Rezende, Raissa C, Tiburcio, Angelica M F P, Souza, Micheline A R, Freire, Bruna L, Krepischi, Ana C V, Longui, Carlos Alberto, Lerario, Antonio Marcondes, Arnhold, Ivo J P, Jorge, Alexander A L, Vasques, Gabriela Andrade
Publicado 2022