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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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2
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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3
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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4
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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5
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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6
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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7
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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8
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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9
Modular Label-Free Electrochemical Biosensor Loading Nature-Inspired Peptide toward the Widespread Use of COVID-19 Antibody Tests
Modular Label-Free Electrochemical Biosensor Loading Nature-Inspired Peptide toward the Widespread Use of COVID-19 Antibody Tests
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Modular Label-Free Electrochemical Biosensor Loading Nature-Inspired Peptide toward the Widespread Use of COVID-19 Antibody Tests

Castro, Ana C. H. ; Bezerra, Ítalo R. S. ; Pascon, Aline M. ; da Silva, Gabriela H. ; Philot, Eric A. ; de Oliveira, Vivian L. ; Mancini, Rodrigo S. N. ; Schleder, Gabriel R. ; Castro, Carlos E. ; de Carvalho, Luciani R. S. ; Fernandes, Bianca H. V. ; Cilli, Eduardo M. ; Sanches, Paulo R. S. ; Santhiago, Murilo ; Charlie-Silva, Ives ; Martinez, Diego S. T. ; Scott, Ana L. ; Alves, Wendel A. ; Lima, Renato S.

ACS nano, 2022-09, Vol.16 (9), p.14239-14253 [Periódico revisado por pares]

United States: American Chemical 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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