Novel mutations (P.G6R and P.R511W) in IGF1R gene in children born small for gestational age (SGA) without catch-up growth (2010)
- Authors:
- USP affiliated authors: MONTENEGRO, LUCIANA RIBEIRO - FM ; MENDONÇA, BERENICE BILHARINHO DE - FM ; JORGE, ALEXANDER AUGUSTO DE LIMA - FM
- Unidade: FM
- Subjects: RECÉM-NASCIDO PEQUENO PARA IDADE GESTACIONAL; MUTAÇÃO GENÉTICA; TRANSTORNOS DO CRESCIMENTO (GENÉTICA); SEQUENCIAMENTO GENÉTICO; RESUMOS (EVENTOS)
- Language: Inglês
- Imprenta:
- Source:
- Conference titles: Simpósio "Avanços em Pesquisas Médicas dos Laboratórios de Investigação Médica do Hospital das Clínicas da FMUSP"
-
ABNT
LEAL, A C; MONTENEGRO, Luciana Ribeiro; COUTINHO, D C; et al. Novel mutations (P.G6R and P.R511W) in IGF1R gene in children born small for gestational age (SGA) without catch-up growth. Clinics[S.l: s.n.], 2010. -
APA
Leal, A. C., Montenegro, L. R., Coutinho, D. C., Mendonça, B. B. de, Arnhold, I. J. P., & Jorge, A. A. de L. (2010). Novel mutations (P.G6R and P.R511W) in IGF1R gene in children born small for gestational age (SGA) without catch-up growth. Clinics. São Paulo. -
NLM
Leal AC, Montenegro LR, Coutinho DC, Mendonça BB de, Arnhold IJP, Jorge AA de L. Novel mutations (P.G6R and P.R511W) in IGF1R gene in children born small for gestational age (SGA) without catch-up growth. Clinics. 2010 ; 65 S64. -
Vancouver
Leal AC, Montenegro LR, Coutinho DC, Mendonça BB de, Arnhold IJP, Jorge AA de L. Novel mutations (P.G6R and P.R511W) in IGF1R gene in children born small for gestational age (SGA) without catch-up growth. Clinics. 2010 ; 65 S64. - Mutações no gene do receptor do fator de crescimento insulina-símile 1 (IGF1R) como causa de retardo do crescimento pré- e pós-natal
- Post-receptor IGF1 insensitivity restricted to the MAPK pathway in a Silver–Russell syndrome patient with hypomethylation at the imprinting control region on chromosome 11
- Silencing of IGF1R by Small Interfering RNA (siRNA) in an Adrenocortical Tumor Cell Line
- Considerable frequency of novel GLI2 missense witations in patientes with hypopituitarism without holoprosencephaly
- Molecular analysis of brazilian patients with combined pituitary hormone deficiency and orthotopic posterior pituitary lobe reveals eight different PROP1 alterations with three novel mutations
- Exome sequencing reveals the POLR3H gene as a novel cause of primary ovarian insufficiency
- Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly
- Usefulness of MLPA in the detection of SHOX deletions
- Pathogenic copy number variants in patients with congenital hypopituitarism associated with complex phenotypes
- Association Study of GWAS-Derived Loci with Height in Brazilian Children: Importance of MAP3K3, MMP24 and IGF1R Polymorphisms for Height Variation
How to cite
A citação é gerada automaticamente e pode não estar totalmente de acordo com as normas
