Detalhe da pesquisa
1.
An update on genetic variants of the NKX2-5.
Hum Mutat
; 41(7): 1187-1208, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32369864
2.
Genetic characterization of a large cohort of Argentine 21-hydroxylase Deficiency.
Clin Endocrinol (Oxf)
; 93(1): 19-27, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32289882
3.
Genetic Analysis Algorithm for the Study of Patients with Multiple Congenital Anomalies and Isolated Congenital Heart Disease.
Genes (Basel)
; 13(7)2022 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885957
4.
Novel variant in the KAT6B gene associated with Say Barber Biesecker Young Simpson.
Clin Dysmorphol
; 32(4): 175-179, 2023 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37646730
5.
Structure-based activity prediction of CYP21A2 stability variants: A survey of available gene variations.
Sci Rep
; 6: 39082, 2016 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-27966633
6.
Análisis de anomalías cromosómicas, desbalances genómicos y variantes de secuencia como causa de cardiopatías congénitas / Analysis of chromosomal abnormalities, genomic imbalances, and sequence variants as cause of congenital heart defects
Rev. argent. salud publica
; 13: 1-8, 5/02/2021.
Artigo
em Espanhol
| LILACS, ARGMSAL, BINACIS | ID: biblio-1147271
7.
Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency.
Endocrine
; 50(1): 72-8, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26184415
8.
Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene.
PLoS One
; 9(3): e92181, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24667412
9.
Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient.
Case Rep Genet
; 2013: 143781, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23936690
10.
Structure-based analysis of five novel disease-causing mutations in 21-hydroxylase-deficient patients.
PLoS One
; 6(1): e15899, 2011 Jan 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21264314
11.
Mechanism of action of novel naphthofuranquinones on rat liver microsomal peroxidation.
Chem Biol Interact
; 182(2-3): 213-9, 2009 Dec 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-19744469