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

França, Marcela M. ; Jorge, Alexander A. L. ; Carvalho, Luciani R. S. ; Costalonga, Everlayny F. ; Otto, Aline P. ; Correa, Fernanda A. ; Mendonca, Berenice B. ; Arnhold, Ivo J. P.

Clinical endocrinology (Oxford), 2013-04, Vol.78 (4), p.551-557 [Periódico revisado por pares]

Oxford: Blackwell Publishing Ltd

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2
Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum
Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum
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Allelic Variants in Established Hypopituitarism Genes Expand Our Knowledge of the Phenotypic Spectrum

Nakaguma, Marilena ; Ferreira, Nathalia Garcia Bianchi Pereira ; Benedetti, Anna Flavia Figueredo ; Madi, Mariana Cotarelli ; Silva, Juliana Moreira ; Li, Jun Z ; Ma, Qianyi ; Bilge Ozel, Ayse ; Fang, Qing ; Narcizo, Amanda de Moraes ; Cardoso, Laís Cavalca ; Montenegro, Luciana Ribeiro ; Funari, Mariana Ferreira de Assis ; Nishi, Mirian Yumie ; Arnhold, Ivo Jorge Prado ; Jorge, Alexander Augusto de Lima ; Mendonca, Berenice Bilharinho de ; Camper, Sally Ann ; Carvalho, Luciani R

Genes, 2021-07, Vol.12 (8), p.1128 [Periódico revisado por pares]

Switzerland: MDPI AG

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3
An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles
An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles
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An activating mutation in the CRHR1 gene is rarely associated with pituitary-dependent hyperadrenocorticism in poodles

De-Marco, Viviani ; Carvalho, Luciani R. ; Guzzo, Mariana F. ; Oliveira, Paulo S.L. ; Gomes, Larissa G. ; Mendonca, Berenice B.

Clinics (São Paulo, Brazil), 2017-10, Vol.72 (9), p.575-581 [Periódico revisado por pares]

Brazil: Elsevier España, S.L.U

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4
PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations
PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations
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PROP1 and CTNNB1 expression in adamantinomatous craniopharyngiomas with or without β-catenin mutations

Cani, Carolina M.G. ; Matushita, Hamilton ; Carvalho, Luciani R.S. ; Soares, Ibere C. ; Brito, Luciana P. ; Almeida, Madson Q. ; Mendonça, Berenice B.

Clinics (São Paulo, Brazil), 2011-01, Vol.66 (11), p.1849-1854 [Periódico revisado por pares]

Brazil: Elsevier España, S.L.U

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5
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR
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Genetic diagnosis of congenital hypopituitarism by a target gene panel: novel pathogenic variants in GLI2, OTX2 and GHRHR

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

Endocrine Connections, 2019-05, Vol.8 (5), p.590-595 [Periódico revisado por pares]

England: Bioscientifica Ltd

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6
PROP1 overexpression in corticotrophinomas: evidence for the role of PROP1 in the maintenance of cells committed to corticotrophic differentiation
PROP1 overexpression in corticotrophinomas: evidence for the role of PROP1 in the maintenance of cells committed to corticotrophic differentiation
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PROP1 overexpression in corticotrophinomas: evidence for the role of PROP1 in the maintenance of cells committed to corticotrophic differentiation

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

Clinics (São Paulo, Brazil), 2013-06, Vol.68 (6), p.887-891 [Periódico revisado por pares]

Brazil: Elsevier España, S.L.U

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7
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies
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FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

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

Endocrine Connections, 2015-06, Vol.4 (2), p.100-107 [Periódico revisado por pares]

England: Bioscientifica Ltd

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8
Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort
Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort
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Autosomal recessive form of isolated growth hormone deficiency is more frequent than the autosomal dominant form in a Brazilian cohort

Lido, Andria C.V ; França, Marcela M ; Correa, Fernanda A ; Otto, Aline P ; Carvalho, Luciani R ; Quedas, Elisangela P.S ; Nishi, Mirian Y ; Mendonca, Berenice B ; Arnhold, Ivo J.P ; Jorge, Alexander A.L

Growth hormone & IGF research, 2014-10, Vol.24 (5), p.180-186 [Periódico revisado por pares]

Scotland: Elsevier Ltd

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9
A novel insight on SARS-CoV-2 S-derived fragments in the control of the host immunity
A novel insight on SARS-CoV-2 S-derived fragments in the control of the host immunity
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A novel insight on SARS-CoV-2 S-derived fragments in the control of the host immunity

Bastos, Thais Sibioni Berti ; Portela de Paula, André Guilherme ; Bosso dos Santos Luz, Rebeca ; Garnique, Anali M. B. ; Belo, Marco A. A. ; Eto, Silas Fernandes ; Fernandes, Dayanne Carla ; Ferraris, Fausto Klabund ; Gomes de Pontes, Leticia ; França, Tábata Takahashi ; Barcellos, Leonardo José Gil ; Veras, Flavio P. ; Bermejo, Pamela ; Guidelli, Giovanna ; Maneira, Carla ; da Silveira Bezerra de Mello, Fellipe ; Teixeira, Gleidson ; Guimarães Pereira, Gonçalo Amarante ; Fernandes, Bianca H. V. ; Sanches, Paulo R. S. ; Bezerra Braz, Helyson Lucas ; Bezerra Jorge, Roberta Jeane ; Malafaia, Guilherme ; Cilli, Eduardo M. ; da Silva Olivier, Danilo ; Serrou do Amaral, Marcos ; Medeiros, Renata J. ; Condino-Neto, Antonio ; Carvalho, Luciani R. ; Machado-Santelli, Glaucia M. ; Charlie-Silva, Ives ; Galindo-Villegas, Jorge ; Braga, Tárcio Teodoro

Nature 2023

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10
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies
FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies
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FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies

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

Bioscientifica Ltd 2015

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