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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
The phenotypic spectrum associated with OTX2 mutations in humans.
Published in:
European Journal of Endocrinology, 2021, v. 185, n. 1, p. 121, doi. 10.1530/EJE-20-1453
By:
- Gregory, Louise C.;
- Gergics, Peter;
- Nakaguma, Marilena;
- Hironori Bando;
- Patti, Giuseppa;
- McCabe, Mark J.;
- Qing Fang;
- Qianyi Ma;
- Ozel, Ayse Bilge;
- Li, Jun Z.;
- Poina, Michele Moreira;
- Jorge, Alexander A. L.;
- Figueredo Benedetti, Anna F.;
- Lerario, Antonio M.;
- Arnhold, Ivo J. P.;
- Mendonca, Berenice B.;
- Maghnie, Mohamad;
- Camper, Sally A.;
- Carvalho, Luciani R. S.;
- Dattani, Mehul T.
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

Found: 4

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

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

The phenotypic spectrum associated with OTX2 mutations in humans.

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.