Molecular analysis of brazilian patients with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP) reveals 8 different PROP1 alterations with three novel mutations (2017)
- Authors:
- USP affiliated authors: JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- Subjects: MUTAÇÃO GENÉTICA; HORMÔNIOS HIPOFISÁRIOS; SEQUENCIAMENTO GENÉTICO; ESTUDOS DE COORTES
- Language: Inglês
- Imprenta:
- Source:
- Título do periódico: Hormone research in paediatrics
- ISSN: 1663-2818
- Volume/Número/Paginação/Ano: v. 88, suppl.1, p. 43-44, 2017
- Conference titles: Joint meeting of paediatric endocrinology
-
ABNT
MADEIRA, Joao L. O. e JORGE, Alexander Augusto de Lima e MENDONÇA, Berenice Bilharinho de. Molecular analysis of brazilian patients with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP) reveals 8 different PROP1 alterations with three novel mutations. Hormone research in paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. . Acesso em: 18 abr. 2024. , 2017 -
APA
Madeira, J. L. O., Jorge, A. A. de L., & Mendonça, B. B. de. (2017). Molecular analysis of brazilian patients with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP) reveals 8 different PROP1 alterations with three novel mutations. Hormone research in paediatrics. Basel: Faculdade de Medicina, Universidade de São Paulo. -
NLM
Madeira JLO, Jorge AA de L, Mendonça BB de. Molecular analysis of brazilian patients with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP) reveals 8 different PROP1 alterations with three novel mutations. Hormone research in paediatrics. 2017 ; 88 43-44.[citado 2024 abr. 18 ] -
Vancouver
Madeira JLO, Jorge AA de L, Mendonça BB de. Molecular analysis of brazilian patients with combined pituitary hormone deficiency (CPHD) and orthotopic posterior pituitary lobe (OPP) reveals 8 different PROP1 alterations with three novel mutations. Hormone research in paediatrics. 2017 ; 88 43-44.[citado 2024 abr. 18 ] - Investigação genética
- Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly
- A Bayesian approach to diagnose growth hormone deficiency in children: insulin-like growth factor type 1 is valuable for screening and IGF-binding protein type 3 for confirmation
- Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency
- GH-Releasing hormone receptor gene: a novel splice-disrupting mutation and study of founder effects
- The sitting heigh/height ratio for age is a simple and useful tool to select children with idiopathic short stature for SHOX studies
- IGF-1 assessed by pubertal status has the best positive predictive power for GH deficiency diagnosis in peripubertal children
- High-throughput splicing assays identify missense and silent splice-disruptive POU1F1 variants underlying pituitary hormone deficiency
- Usefulness of MLPA in the detection of SHOX deletions
- Analyses of the GLI2 Gene in Patients with Congenital Isolated GH Deficiency (IGHD) or Associated to Other Pituitary Hormone Deficiencies (CPHD) Without Holoprosencephaly (HPE)
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