Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly (2011)
- Authors:
- USP affiliated authors: JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- Subjects: MUTAÇÃO GENÉTICA; GENES (ANÁLISE); GLÂNDULA PITUITÁRIA (GENÉTICA;FISIOPATOLOGIA); RESUMOS (EVENTOS)
- Language: Inglês
- Imprenta:
- Source:
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 76, suppl. 2, p. 25
- Conference titles: Annual meeting of the european
-
ABNT
FRANÇA, Marcela et al. Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly. . Basel: Faculdade de Medicina, Universidade de São Paulo. Disponível em: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=334325&Ausgabe=255336&ProduktNr=224036&filename=334325.pdf. Acesso em: 15 jan. 2026. , 2011 -
APA
França, M., Jorge, A., Otto, A., Carvalho, L., Mendonça, B. B. de, & Arnhold, I. J. P. (2011). Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly. Basel: Faculdade de Medicina, Universidade de São Paulo. Recuperado de http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=334325&Ausgabe=255336&ProduktNr=224036&filename=334325.pdf -
NLM
França M, Jorge A, Otto A, Carvalho L, Mendonça BB de, Arnhold IJP. Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly [Internet]. 2011 ; 76 25.[citado 2026 jan. 15 ] Available from: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=334325&Ausgabe=255336&ProduktNr=224036&filename=334325.pdf -
Vancouver
França M, Jorge A, Otto A, Carvalho L, Mendonça BB de, Arnhold IJP. Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly [Internet]. 2011 ; 76 25.[citado 2026 jan. 15 ] Available from: http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowPDF&ArtikelNr=334325&Ausgabe=255336&ProduktNr=224036&filename=334325.pdf - High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
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- Analyses of the GLI2 Gene in Patients with Congenital Isolated GH Deficiency (IGHD) or Associated to Other Pituitary Hormone Deficiencies (CPHD) Without Holoprosencephaly (HPE)
- The Effect of Transdermic Dihydrotestosterone Gel Treatment on Penile Size: Experience with Fifteen Patients
- Investigação genética
- Novel Mutations in the Growth Hormone Secretagogue Receptor Gene (GHSR) Associated with Constitutional Delay in Growth and Puberty (CDGP)
- Partial recovery of pituitary function linear growth in patients with congenital combined pituitary hormone deficiency (CPHD)
- E74 like ETS transcription factor 4 (ELF4) is a candidate gene for X-linked by whole exome sequencing
- Novel LZTR1 variants associated to noonan syndrome and growth hormone deficiency
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