Detalhe da pesquisa
1.
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.
Hum Genet
; 141(11): 1785-1794, 2022 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-35536377
2.
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
Hum Mutat
; 40(8): 1101-1114, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30924982
3.
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Clin Genet
; 96(6): 549-559, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31568572
4.
Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.
Cardiovasc Res
; 119(18): 2902-2916, 2024 02 17.
Artigo
Inglês
| MEDLINE | ID: mdl-37842925
5.
Pathogenic Variants in Cardiomyopathy Disorder Genes Underlie Pediatric Myocarditis-Further Impact of Heterozygous Immune Disorder Gene Variants?
J Cardiovasc Dev Dis
; 9(7)2022 Jul 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35877578
6.
Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis.
Circ Genom Precis Med
; 14(4): e003250, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-34213952
7.
Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy.
Front Pediatr
; 9: 722926, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34540771
8.
RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.
J Am Heart Assoc
; 8(15): e012531, 2019 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-31333075