Detalhe da pesquisa
1.
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis.
Am J Hum Genet
; 109(12): 2230-2252, 2022 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36351433
2.
Spontaneous resolution of an intrapericardial thrombus as a complication of pericardiocentesis in a neonate.
Cardiol Young
; 34(4): 924-926, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38250798
3.
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
Genet Med
; 23(1): 94-102, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32989268
4.
SMAD3 pathogenic variants: risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium.
J Med Genet
; 56(4): 252-260, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30661052
5.
Correction: Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 21(8): 1894-1895, 2019 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-30201961
6.
Arterial tortuosity syndrome: 40 new families and literature review.
Genet Med
; 20(10): 1236-1245, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29323665
7.
Efficacy of losartan as add-on therapy to prevent aortic growth and ventricular dysfunction in patients with Marfan syndrome: a randomized, double-blind clinical trial.
Acta Cardiol
; 72(6): 616-624, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28657492
8.
Angiotensin-II receptor blockade in Marfan syndrome.
Lancet
; 394(10216): 2206-2207, 2019 12 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-31836197
9.
Intrinsic cardiomyopathy in Marfan syndrome: results from in-vivo and ex-vivo studies of the Fbn1C1039G/+ model and longitudinal findings in humans.
Pediatr Res
; 78(3): 256-63, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-26042521
10.
Evaluation of late cardiac effects after multisystem inflammatory syndrome in children.
Front Pediatr
; 11: 1253608, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37691776
11.
Physical activity and physical fitness in children with heritable connective tissue disorders.
Front Pediatr
; 11: 1057070, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37009265
12.
Generation of human induced pluripotent stem cell line UGENTi001-A from a patient with Marfan syndrome carrying a heterozygous c.7754 T > C variant in FBN1 and the isogenic control UGENT001-A-1 using CRISPR/Cas9 editing.
Stem Cell Res
; 67: 103036, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36724552
13.
HTAD patient pathway: Strategy for diagnostic work-up of patients and families with (suspected) heritable thoracic aortic diseases (HTAD). A statement from the HTAD working group of VASCERN.
Eur J Med Genet
; 66(1): 104673, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36460281
14.
Arrhythmia and impaired myocardial function in heritable thoracic aortic disease: An international retrospective cohort study.
Eur J Med Genet
; 65(6): 104503, 2022 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-35427808
15.
Exploring the Mutational Landscape of Isolated Congenital Heart Defects: An Exome Sequencing Study Using Cardiac DNA.
Genes (Basel)
; 13(7)2022 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35885997
16.
Cardiomyopathy in Genetic Aortic Diseases.
Front Pediatr
; 9: 682390, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34336739
17.
Association of Mitral Annular Disjunction With Cardiovascular Outcomes Among Patients With Marfan Syndrome.
JAMA Cardiol
; 6(10): 1177-1186, 2021 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34232254
18.
Aortic disease in Marfan syndrome is caused by overactivation of sGC-PRKG signaling by NO.
Nat Commun
; 12(1): 2628, 2021 05 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33976159
19.
A Reassessment of Copy Number Variations in Congenital Heart Defects: Picturing the Whole Genome.
Genes (Basel)
; 12(7)2021 07 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34356064
20.
Myocardial Function, Heart Failure and Arrhythmia in Marfan Syndrome: A Systematic Literature Review.
Diagnostics (Basel)
; 10(10)2020 Sep 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32992882