Detalhe da pesquisa
1.
The Translational Landscape of the Human Heart.
Cell
; 178(1): 242-260.e29, 2019 06 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155234
2.
Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy.
Circulation
; 144(5): 382-392, 2021 08 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33928785
3.
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23.
Eur Heart J
; 42(20): 2000-2011, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33677556
4.
Mutation location of HCM-causing troponin T mutations defines the degree of myofilament dysfunction in human cardiomyocytes.
J Mol Cell Cardiol
; 150: 77-90, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33148509
5.
P62-positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy.
J Cell Mol Med
; 25(6): 3160-3166, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33605084
6.
Metabolomics in Severe Aortic Stenosis Reveals Intermediates of Nitric Oxide Synthesis as Most Distinctive Markers.
Int J Mol Sci
; 22(7)2021 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33808189
7.
A comparison of two workflows for regulome and transcriptome-based prioritization of genetic variants associated with myocardial mass.
Genet Epidemiol
; 43(6): 717-726, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31145509
8.
Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
J Biol Chem
; 292(19): 7904-7920, 2017 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28302725
9.
Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.
Hum Mol Genet
; 25(11): 2158-2167, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27005418
10.
Genotype-specific pathogenic effects in human dilated cardiomyopathy.
J Physiol
; 595(14): 4677-4693, 2017 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28436080
11.
Monocarboxylate transporter 1 deficiency and ketone utilization.
N Engl J Med
; 371(20): 1900-7, 2014 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25390740
12.
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
Am J Med Genet A
; 167(6): 1196-203, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25845371
13.
Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
Am J Med Genet A
; 164A(1): 29-35, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24259184
14.
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders.
Am J Med Genet A
; 161A(12): 3012-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24115501
15.
X-exome sequencing identifies a HDAC8 variant in a large pedigree with X-linked intellectual disability, truncal obesity, gynaecomastia, hypogonadism and unusual face.
J Med Genet
; 49(8): 539-43, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22889856
16.
Targeting lipid metabolism as a new therapeutic strategy for inherited cardiomyopathies.
Front Cardiovasc Med
; 10: 1114459, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36760574
17.
Locational memory of macrovessel vascular cells is transcriptionally imprinted.
Sci Rep
; 13(1): 13028, 2023 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37563195
18.
Generation and characterization of novel human induced pluripotent stem cell (iPSC) lines originating from five asymptomatic individuals carrying the PLN-R14del pathogenic variant and a non-carrier relative.
Stem Cell Res
; 72: 103208, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37748331
19.
HFrEF subphenotypes based on 4210 repeatedly measured circulating proteins are driven by different biological mechanisms.
EBioMedicine
; 93: 104655, 2023 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-37327673
20.
Sex-based differences in cardiovascular proteomic profiles and their associations with adverse outcomes in patients with chronic heart failure.
Biol Sex Differ
; 14(1): 29, 2023 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-37198662