Detalhe da pesquisa
1.
Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.
Circulation
; 144(17): 1409-1428, 2021 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-34694888
2.
Sarcomere gene variants act as a genetic trigger underlying the development of left ventricular noncompaction.
Pediatr Res
; 84(5): 733-742, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30188508
3.
Clinical and Echocardiographic Impact of Tafazzin Variants on Dilated Cardiomyopathy Phenotype in Left Ventricular Non-Compaction Patients in Early Infancy.
Circ J
; 82(10): 2609-2618, 2018 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-30122738
4.
A Functional Assay for Sick Sinus Syndrome Genetic Variants.
Cell Physiol Biochem
; 42(5): 2021-2029, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28803248
5.
Assessment of large copy number variants in patients with apparently isolated congenital left-sided cardiac lesions reveals clinically relevant genomic events.
Am J Med Genet A
; 173(8): 2176-2188, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-28653806
6.
MicroRNA-93 may control vascular endothelial growth factor A in circulating peripheral blood mononuclear cells in acute Kawasaki disease.
Pediatr Res
; 80(3): 425-32, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27089500
7.
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
Am J Med Genet A
; 167A(12): 2975-84, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26284702
8.
A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
Am J Med Genet A
; 158A(12): 3137-47, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23165927
9.
AEBP1 gene variants in infants with gastroschisis.
Birth Defects Res A Clin Mol Teratol
; 94(9): 738-42, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22821744
10.
The Winchcombe meteorite, a unique and pristine witness from the outer solar system.
Sci Adv
; 8(46): eabq3925, 2022 Nov 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36383648
11.
A role for Toll-like receptor 3 variants in host susceptibility to enteroviral myocarditis and dilated cardiomyopathy.
J Biol Chem
; 285(30): 23208-23, 2010 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-20472559
12.
Conditional transgenic expression of TIR-domain-containing adaptor-inducing interferon-ß (TRIF) in the adult mouse heart is protective in acute viral myocarditis.
Basic Res Cardiol
; 106(6): 1159-71, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21956162
13.
Identification of a novel TPM1 mutation in a family with left ventricular noncompaction and sudden death.
Mol Genet Metab
; 102(2): 200-6, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20965760
14.
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.
Am J Med Genet A
; 155A(10): 2578-83, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21910241
15.
A burden of sarcomere gene variants in fetal-onset patients with left ventricular noncompaction.
Int J Cardiol
; 328: 122-129, 2021 04 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33309763
16.
The history and geographic distribution of a KCNQ1 atrial fibrillation risk allele.
Nat Commun
; 12(1): 6442, 2021 11 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34750360
17.
Gonadal mosaicism of a TAZ (G4.5) mutation in a Japanese family with Barth syndrome and left ventricular noncompaction.
Mol Genet Metab
; 100(2): 198-203, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20303308
18.
Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation.
Am J Cardiol
; 102(5): 629-31, 2008 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18721526
19.
SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia.
Mol Genet Metab
; 93(4): 468-74, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18368697
20.
Desmosomal dysfunction due to mutations in desmoplakin causes arrhythmogenic right ventricular dysplasia/cardiomyopathy.
Circ Res
; 99(6): 646-55, 2006 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16917092