Detalhe da pesquisa
1.
Biallelic mutation in MYH7 and MYBPC3 leads to severe cardiomyopathy with left ventricular noncompaction phenotype.
Hum Mutat
; 40(8): 1101-1114, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30924982
2.
Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.
Clin Genet
; 96(6): 549-559, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31568572
3.
The progressive ankylosis protein ANK facilitates clathrin- and adaptor-mediated membrane traffic at the trans-Golgi network-to-endosome interface.
Hum Mol Genet
; 25(17): 3836-3848, 2016 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27466194
4.
Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth.
J Biol Chem
; 290(6): 3349-58, 2015 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25492866
5.
Prdm16 mutation determines sex-specific cardiac metabolism and identifies two novel cardiac metabolic regulators.
Cardiovasc Res
; 119(18): 2902-2916, 2024 02 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37842925
6.
Neurofibromin (Nf1) is required for skeletal muscle development.
Hum Mol Genet
; 20(14): 2697-709, 2011 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21478499
7.
Mutations in the prostaglandin transporter encoding gene SLCO2A1 cause primary hypertrophic osteoarthropathy and isolated digital clubbing.
Hum Mutat
; 33(4): 660-4, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22331663
8.
Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity.
J Biol Chem
; 286(43): 37665-75, 2011 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-21865173
9.
Disease relevance of rare VPS13B missense variants for neurodevelopmental Cohen syndrome.
Sci Rep
; 12(1): 9686, 2022 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-35690661
10.
Left Ventricular Noncompaction in Children: The Role of Genetics, Morphology, and Function for Outcome.
J Cardiovasc Dev Dis
; 9(7)2022 Jun 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35877568
11.
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
em Inglês
| MEDLINE | ID: mdl-35877578
12.
MIA is a potential biomarker for tumour load in neurofibromatosis type 1.
BMC Med
; 9: 82, 2011 Jul 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-21726432
13.
Midwall Fibrosis and Cardiac Mechanics: Rigid Body Rotation Is a Novel Marker of Disease Severity in Pediatric Primary Dilated Cardiomyopathy.
Front Cardiovasc Med
; 8: 810005, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35252369
14.
Diffuse myocardial fibrosis by T1 mapping is associated with heart failure in pediatric primary dilated cardiomyopathy.
Int J Cardiol
; 333: 219-225, 2021 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33737165
15.
Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy.
Front Pediatr
; 9: 722926, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34540771
16.
Pathogenic Variants Associated With Dilated Cardiomyopathy Predict Outcome in Pediatric Myocarditis.
Circ Genom Precis Med
; 14(4): e003250, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34213952
17.
Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy.
Stem Cell Res
; 55: 102489, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34375846
18.
Insights into mesenchymal stem cell aging: involvement of antioxidant defense and actin cytoskeleton.
Stem Cells
; 27(6): 1288-97, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19492299
19.
Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.
FASEB J
; 23(3): 883-93, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18987302
20.
Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.
J Am Heart Assoc
; 9(10): e015289, 2020 05 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-32410525