Analyses of the GLI2 Gene in Patients with Congenital Isolated GH Deficiency (IGHD) or Associated to Other Pituitary Hormone Deficiencies (CPHD) Without Holoprosencephaly (HPE) (2011)
- Authors:
- USP affiliated authors: MENDONÇA, BERENICE BILHARINHO DE - FM ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- Subjects: GENES (ANÁLISE); HORMÔNIO DO CRESCIMENTO (DEFICIÊNCIA); FENÓTIPOS; RESUMOS (EVENTOS)
- Language: Inglês
- Imprenta:
- Source:
- Título: Hormone Research in Paediatrics
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 76, n. suppl. 4, p. 1, res. 2, 2011
- Conference titles: Annual Meeting of the Sociedad Latino-Americana de Endocrinología Pediátrica (SLEP)
-
ABNT
FRANÇA, M. et al. Analyses of the GLI2 Gene in Patients with Congenital Isolated GH Deficiency (IGHD) or Associated to Other Pituitary Hormone Deficiencies (CPHD) Without Holoprosencephaly (HPE). Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. Disponível em: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=330526&Ausgabe=255433&ProduktNr=224036&filename=330526.pdf. Acesso em: 28 dez. 2025. , 2011 -
APA
França, M., Jorge, A., Carvalho, L., Otto, A., Corrêa, F., Costalonga, E., et al. (2011). Analyses of the GLI2 Gene in Patients with Congenital Isolated GH Deficiency (IGHD) or Associated to Other Pituitary Hormone Deficiencies (CPHD) Without Holoprosencephaly (HPE). Hormone Research in Paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. Recuperado de http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=330526&Ausgabe=255433&ProduktNr=224036&filename=330526.pdf -
NLM
França M, Jorge A, Carvalho L, Otto A, Corrêa F, Costalonga E, Mendonça. B., Arnhold I. Analyses of the GLI2 Gene in Patients with Congenital Isolated GH Deficiency (IGHD) or Associated to Other Pituitary Hormone Deficiencies (CPHD) Without Holoprosencephaly (HPE) [Internet]. Hormone Research in Paediatrics. 2011 ; 76( suppl. 4): 1.[citado 2025 dez. 28 ] Available from: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=330526&Ausgabe=255433&ProduktNr=224036&filename=330526.pdf -
Vancouver
França M, Jorge A, Carvalho L, Otto A, Corrêa F, Costalonga E, Mendonça. B., Arnhold I. Analyses of the GLI2 Gene in Patients with Congenital Isolated GH Deficiency (IGHD) or Associated to Other Pituitary Hormone Deficiencies (CPHD) Without Holoprosencephaly (HPE) [Internet]. Hormone Research in Paediatrics. 2011 ; 76( suppl. 4): 1.[citado 2025 dez. 28 ] Available from: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=330526&Ausgabe=255433&ProduktNr=224036&filename=330526.pdf - Investigação genética
- Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly
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- Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency
- Rare causes and differential diagnosis in patients with Silver-Russell Syndrome
- Usefulness of MLPA in the detection of SHOX deletions
- The Effect of Transdermic Dihydrotestosterone Gel Treatment on Penile Size: Experience with Fifteen Patients
- Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly
- Role of GLI2 in hypopituitarism phenotype
- Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes
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