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1
Role of GLI2 in hypopituitarism phenotype
Role of GLI2 in hypopituitarism phenotype
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Role of GLI2 in hypopituitarism phenotype

Arnhold, Ivo J P ; França, Marcela M ; Carvalho, Luciani R ; Mendonca, Berenice B ; Jorge, Alexander A L

Journal of molecular endocrinology, 2015-06, Vol.54 (3), p.R141-R150 [Periódico revisado por pares]

England: Bioscientifica Ltd

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2
The phenotypic spectrum associated with OTX2 mutations in humans
The phenotypic spectrum associated with OTX2 mutations in humans
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The phenotypic spectrum associated with OTX2 mutations in humans

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

European journal of endocrinology, 2021-05, Vol.185 (1), p.121-135 [Periódico revisado por pares]

England: Bioscientifica Ltd

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3
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders
Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders
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Homozygous CDH2 variant may be associated with hypopituitarism without neurological disorders

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

Endocrine Connections, 2023-07, Vol.12 (8), p.1-12 [Periódico revisado por pares]

England: Bioscientifica Ltd

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4
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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5
A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD)
A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD)
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A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD)

Madeira, João L O ; Jorge, Alexander A L ; Martin, Regina M ; Montenegro, Luciana R ; Franca, Marcela M ; Costalonga, Everlayny F ; Correa, Fernanda A ; Otto, Aline P ; Arnhold, Ivo J P ; Freitas, Helayne S ; Machado, Ubiratan F ; Mendonca, Berenice B ; Carvalho, Luciani R

European journal of endocrinology, 2016-08, Vol.175 (2), p.K7-K15 [Periódico revisado por pares]

England: Bioscientifica Ltd

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6
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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7
A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD)
A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD)
Material Type:
Artigo 		Adicionar ao Meu Espaço

A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD)

Madeira, João L O ; Jorge, Alexander A L ; Martin, Regina M ; Montenegro, Luciana R ; Franca, Marcela M ; Costalonga, Everlayny F ; Correa, Fernanda A ; Otto, Aline P ; Arnhold, Ivo J P ; Freitas, Helayne S ; Machado, Ubiratan F ; Mendonca, Berenice B ; Carvalho, Luciani R

European journal of endocrinology, 2016-08, Vol.174 (8), p.K7 [Periódico revisado por pares]

Bristol: Oxford University Press

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8
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
Material Type:
Artigo 		Adicionar ao Meu Espaço

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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