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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
Androgen receptor mRNA analysis from whole blood: a low‐cost strategy for detection of androgen receptor gene splicing defects
Androgen receptor mRNA analysis from whole blood: a low‐cost strategy for detection of androgen receptor gene splicing defects
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Androgen receptor mRNA analysis from whole blood: a low‐cost strategy for detection of androgen receptor gene splicing defects

Silva, Juliana M. ; Batista, Rafael Loch ; De Santi Rodrigues, Andresa ; Nishi, Mirian Y. ; Costa, Elaine M.F. ; Domenice, Sorahia ; Carvalho, Luciani R.S. ; Mendonca, Berenice B.

Clinical genetics, 2018-11, Vol.94 (5), p.489-490 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing Ltd

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3
Rederivation of a mutant line (prop 1) of zebrafish Danio rerio infected with Pseudoloma neurophilia using in vitro fertilization with eggs from pathogen‐free wild‐type (AB) females and sperm from prop 1 males
Rederivation of a mutant line (prop 1) of zebrafish Danio rerio infected with Pseudoloma neurophilia using in vitro fertilization with eggs from pathogen‐free wild‐type (AB) females and sperm from prop 1 males
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Rederivation of a mutant line (prop 1) of zebrafish Danio rerio infected with Pseudoloma neurophilia using in vitro fertilization with eggs from pathogen‐free wild‐type (AB) females and sperm from prop 1 males

Ventura Fernandes, Bianca H. ; Caetano da Silva, Caroline ; Bissegato, Debora ; Kent, Michael L. ; Carvalho, Luciani R.

Journal of fish diseases, 2022-01, Vol.45 (1), p.35-39 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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4
HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype
HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype
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HESX1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype

Fang, Qing ; Benedetti, Anna Flavia Figueredo ; Ma, Qianyi ; Gregory, Louise ; Li, Jun Z. ; Dattani, Mehul ; Sadeghi-Nejad, Abdollah ; Arnhold, Ivo J.P. ; Mendonca, Berenice Bilharinho ; Camper, Sally A. ; Carvalho, Luciani R.

Clinical endocrinology (Oxford), 2016-09, Vol.85 (3), p.408-414 [Periódico revisado por pares]

England: Blackwell Publishing Ltd

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5
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations
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Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations

Madeira, Joao LO ; Nishi, Mirian Y ; Nakaguma, Marilena ; Benedetti, Anna F ; Biscotto, Isabela Peixoto ; Fernandes, Thamiris ; Pequeno, Thiago ; Figueiredo, Thalita ; Franca, Marcela M ; Correa, Fernanda A ; Otto, Aline P ; Abrão, Milena ; Miras, Mirta B ; Santos, Silvana ; Jorge, Alexander AL ; Costalonga, Everlayny F ; Mendonca, Berenice B ; Arnhold, Ivo JP ; Carvalho, Luciani R

Clinical endocrinology (Oxford), 2017-12, Vol.87 (6), p.725-732 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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6
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes
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Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes

Correa, Fernanda A. ; Jorge, Alexander AL ; Nakaguma, Marilena ; Canton, Ana PM ; Costa, Silvia S ; Funari, Mariana F ; Lerario, Antonio M ; Franca, Marcela M ; Carvalho, Luciani R ; Krepischi, Ana CV ; Arnhold, Ivo JP ; Rosenberg, Carla ; Mendonca, Berenice B

Clinical endocrinology (Oxford), 2018-03, Vol.88 (3), p.425-431 [Periódico revisado por pares]

England: Wiley Subscription Services, Inc

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7
Acromegalic features in growth hormore (GH)-deficient patients after long-term GH therapy
Acromegalic features in growth hormore (GH)-deficient patients after long-term GH therapy
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Acromegalic features in growth hormore (GH)-deficient patients after long-term GH therapy

Carvalho, Luciani R. ; Justamante de Faria, Maria Estela ; Farah Osorio, Maria Geralda ; Estefan, Vivian ; Lima Jorge, Alexander Augusto ; Arnhold, Ivo Jorge Prado ; Mendonca, Berenice Bilharinho

Clinical endocrinology (Oxford), 2003-12, Vol.59 (6), p.788-792 [Periódico revisado por pares]

Oxford, UK: Blackwell Publishing, Ltd

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8
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP 1 alterations with three novel mutations
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP 1 alterations with three novel mutations
Material Type:
Artigo 		Adicionar ao Meu Espaço

Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP 1 alterations with three novel mutations

Madeira, Joao LO ; Nishi, Mirian Y ; Nakaguma, Marilena ; Benedetti, Anna F ; Biscotto, Isabela Peixoto ; Fernandes, Thamiris ; Pequeno, Thiago ; Figueiredo, Thalita ; Franca, Marcela M ; Correa, Fernanda A ; Otto, Aline P ; Abrão, Milena ; Miras, Mirta B ; Santos, Silvana ; Jorge, Alexander AL ; Costalonga, Everlayny F ; Mendonca, Berenice B ; Arnhold, Ivo JP ; Carvalho, Luciani R

Clinical endocrinology (Oxford), 2017-12, Vol.87 (6), p.725-732 [Periódico revisado por pares]

Texto completo disponível

Citações Citado por
9
HESX 1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype
HESX 1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype
Material Type:
Artigo 		Adicionar ao Meu Espaço

HESX 1 mutations in patients with congenital hypopituitarism: variable phenotypes with the same genotype

Fang, Qing ; Benedetti, Anna Flavia Figueredo ; Ma, Qianyi ; Gregory, Louise ; Li, Jun Z. ; Dattani, Mehul ; Sadeghi‐Nejad, Abdollah ; Arnhold, Ivo J.P. ; Mendonca, Berenice Bilharinho ; Camper, Sally A. ; Carvalho, Luciani R.

Clinical endocrinology (Oxford), 2016-09, Vol.85 (3), p.408-414 [Periódico revisado por pares]

Texto completo disponível

Citações Citado por
10
Relatively high frequency of non‐synonymous GLI 2 variants in patients with congenital hypopituitarism without holoprosencephaly
Relatively high frequency of non‐synonymous GLI 2 variants in patients with congenital hypopituitarism without holoprosencephaly
Material Type:
Artigo 		Adicionar ao Meu Espaço

Relatively high frequency of non‐synonymous GLI 2 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]

Texto completo disponível

Citações Citado por

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