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Central adrenal insufficiency: who, when, and how? From the evidence to the controversies – an exploratory review
Central adrenal insufficiency: who, when, and how? From the evidence to the controversies – an exploratory review
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Central adrenal insufficiency: who, when, and how? From the evidence to the controversies – an exploratory review

Bitencourt, Mariana Rechia ; Batista, Rafael Loch ; Biscotto, Isabela ; Carvalho, Luciani R.

Archives of Endocrinology and Metabolism, 2022-07, Vol.66 (4), p.541-550

Sociedade Brasileira de Endocrinologia e Metabologia

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2
Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly
Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly
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Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly

França, Marcela M ; Jorge, Alexander A. L ; Carvalho, Luciani R. S ; Costalonga, Everlayny F ; Vasques, Gabriela A ; Leite, Claudia C ; Mendonca, Berenice B ; Arnhold, Ivo J. P

The journal of clinical endocrinology and metabolism, 2010-11, Vol.95 (11), p.E384-E391 [Periódico revisado por pares]

United States: Endocrine Society

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3
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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4
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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5
Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center
Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center
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Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center

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

Pituitary, 2015-08, Vol.18 (4), p.561-567 [Periódico revisado por pares]

New York: Springer US

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6
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery
Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery
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Combined pituitary hormone deficiency caused by PROP1 mutations: update 20 years post-discovery

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.

Archives of Endocrinology and Metabolism, 2019-05, Vol.63 (2), p.167-174

Sociedade Brasileira de Endocrinologia e Metabologia

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7
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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8
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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9
Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency
Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency
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Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency

França, Marcela M ; Jorge, Alexander A. L ; Alatzoglou, Kyriaki S ; Carvalho, Luciani R. S ; Mendonca, Berenice B ; Audi, Laura ; Carrascosa, Antonio ; Dattani, Mehul T ; Arnhold, Ivo J. P

The journal of clinical endocrinology and metabolism, 2011-09, Vol.96 (9), p.E1457-E1460 [Periódico revisado por pares]

United States: Endocrine Society

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10
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing
Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing
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Growth hormone deficiency with advanced bone age: phenotypic interaction between GHRH receptor and CYP21A2 mutations diagnosed by sanger and whole exome sequencing

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

Archives of Endocrinology and Metabolism, 2017-12, Vol.61 (6), p.633-636

Brazilian Society of Endocrinology and Metabolism

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