Investigação genética (2022)
- Authors:
- USP affiliated authors: JORGE, ALEXANDER AUGUSTO DE LIMA - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM
- Unidade: FM
- Subjects: FARMACOGENÉTICA; ENDOCRINOLOGIA
- Language: Português
- Imprenta:
- Publisher: Atheneu
- Publisher place: Rio de Janeiro
- Date published: 2022
- ISBN: 9786555862980
- Source:
- Título: Endocrinologia e Metabologia
-
ABNT
JORGE, Alexander Augusto de Lima e SOUZA, Bruno Ferraz e MENDONCA, Berenice Bilharinho de. Investigação genética. Endocrinologia e Metabologia. Tradução . Rio de Janeiro: Atheneu, 2022. . . Acesso em: 10 nov. 2024. -
APA
Jorge, A. A. de L., Souza, B. F., & Mendonca, B. B. de. (2022). Investigação genética. In Endocrinologia e Metabologia. Rio de Janeiro: Atheneu. -
NLM
Jorge AA de L, Souza BF, Mendonca BB de. Investigação genética. In: Endocrinologia e Metabologia. Rio de Janeiro: Atheneu; 2022. [citado 2024 nov. 10 ] -
Vancouver
Jorge AA de L, Souza BF, Mendonca BB de. Investigação genética. In: Endocrinologia e Metabologia. Rio de Janeiro: Atheneu; 2022. [citado 2024 nov. 10 ] - Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly
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- 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)
- The Effect of Transdermic Dihydrotestosterone Gel Treatment on Penile Size: Experience with Fifteen Patients
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