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Clarification of intellectual abilities in patients with GLI2 mutations cited by kevelam et al., 2012 Am J med genet part A.
Published in:
American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 6, p. 1519, doi. 10.1002/ajmg.a.35317
By:
- França, Marcela M.;
- Arnhold, Ivo J.P.
Publication type:
Article
Absence of GH-Releasing Hormone (GHRH) Mutations in Selected Patients with Isolated GH Deficiency.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2011, v. 96, n. 9, p. E1457, doi. 10.1210/jc.2011-0170
By:
- 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.
Publication type:
Article
Novel Heterozygous Nonsense GLI2 Mutations in Patients with Hypopituitarism and Ectopic Posterior Pituitary Lobe without Holoprosencephaly.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2010, v. 95, n. 11, p. E384, doi. 10.1210/jc.2010-1050
By:
- 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.
Publication type:
Article
A homozygous point mutation in the GH1 promoter (c.-223C>T) leads to reduced GH1 expression in siblings with isolated GH deficiency (IGHD).
Published in:
European Journal of Endocrinology, 2016, v. 175, n. 2, p. K7, doi. 10.1530/EJE-15-0149
By:
- 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.
Publication type:
Article
GH-Releasing Hormone Receptor Gene: A Novel Splice-Disrupting Mutation and Study of Founder Effects.
Published in:
Hormone Research in Paediatrics, 2012, v. 78, n. 3, p. 165, doi. 10.1159/000342760
By:
- Marui, Suemi;
- Trarbach, Ericka B.;
- Boguszewski, Margaret C.S.;
- França, Marcela M.;
- Jorge, Alexander A.L.;
- Inoue, Hiroshi;
- Nishi, Mirian Y.;
- de Lacerda Filho, Luiz;
- Aguiar-Oliveira, Manuel H.;
- Mendonca, Berenice B.;
- Arnhold, Ivo J.P.
Publication type:
Article
Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes.
Published in:
Clinical Endocrinology, 2018, v. 88, n. 3, p. 425, doi. 10.1111/cen.13535
By:
- Correa, Fernanda A.;
- Jorge, Alexander A. L.;
- Nakaguma, Marilena;
- Canton, Ana P. M.;
- Costa, Silvia S.;
- Funari, Mariana F.;
- Lerario, Antonio M.;
- Franca, Marcela M.;
- Carvalho, Luciani R.;
- Krepischi, Ana C. V.;
- Arnhold, Ivo J. P.;
- Rosenberg, Carla;
- Mendonca, Berenice B.
Publication type:
Article
Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations.
Published in:
Clinical Endocrinology, 2017, v. 87, n. 6, p. 725, doi. 10.1111/cen.13430
By:
- 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
Publication type:
Article
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
Published in:
Clinical Endocrinology, 2013, v. 78, n. 4, p. 551, doi. 10.1111/cen.12044
By:
- 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.
Publication type:
Article

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