Detalhe da pesquisa
1.
Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects.
Hum Mol Genet
; 29(9): 1476-1488, 2020 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32307537
2.
Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.
Genet Med
; 24(5): 1045-1053, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35058154
3.
Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm.
Genet Med
; 23(1): 111-122, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32855533
4.
Variants in ADRB1 and CYP2C9: Association with Response to Atenolol and Losartan in Marfan Syndrome.
J Pediatr
; 222: 213-220.e5, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32586526
5.
Ambulatory Electrocardiographic Monitoring and Ectopic Beat Detection in Conscious Mice.
Sensors (Basel)
; 20(14)2020 Jul 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32664419
6.
Spontaneous Right Ventricular Pseudoaneurysms and Increased Arrhythmogenicity in a Mouse Model of Marfan Syndrome.
Int J Mol Sci
; 21(19)2020 Sep 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32987703
7.
A heart for fibrillin: spatial arrangement in adult wild-type murine myocardial tissue.
Histochem Cell Biol
; 150(3): 271-280, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29926163
8.
In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.
Am J Hum Genet
; 91(5): 950-7, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23103230
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.
Unraveling the role of TGFß signaling in thoracic aortic aneurysm and dissection using Fbn1 mutant mouse models.
Matrix Biol
; 123: 17-33, 2023 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-37683955
11.
Identification of binding partners interacting with the α1-N-propeptide of type V collagen.
Biochem J
; 433(2): 371-81, 2011 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20979576
12.
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations.
Hum Mutat
; 32(4): 445-55, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21309044
13.
Applying massive parallel sequencing to molecular diagnosis of Marfan and Loeys-Dietz syndromes.
Hum Mutat
; 32(9): 1053-62, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21542060
14.
The Loeys-Dietz syndrome: an update for the clinician.
Curr Opin Cardiol
; 25(6): 546-51, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20838339
15.
MEK1/2 Inhibition in Murine Heart and Aorta After Oral Administration of Refametinib Supplemented Drinking Water.
Front Pharmacol
; 11: 1336, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32982746
16.
COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome.
Hum Mutat
; 30(2): E395-403, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18972565
17.
Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology Guidelines for the Interpretation of Sequenced Variants in the FBN1 Gene for Marfan Syndrome: Proposal for a Disease- and Gene-Specific Guideline.
Circ Genom Precis Med
; 11(6): e002039, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875124
18.
Correction: Sex, pregnancy and aortic disease in Marfan syndrome.
PLoS One
; 13(5): e0197631, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29758081
19.
Expressed repetitive elements are broadly applicable reference targets for normalization of reverse transcription-qPCR data in mice.
Sci Rep
; 8(1): 7642, 2018 05 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29769563
20.
Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection.
J Am Coll Cardiol
; 72(6): 605-615, 2018 08 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30071989