Detalhe da pesquisa
1.
A positively selected FBN1 missense variant reduces height in Peruvian individuals.
Nature
; 582(7811): 234-239, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32499652
2.
Predictors of low bone density and fracture risk in Loeys-Dietz syndrome.
Genet Med
; 24(2): 419-429, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906513
3.
Accurate assignment of disease liability to genetic variants using only population data.
Genet Med
; 24(1): 87-99, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906463
4.
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
5.
Regenerative and durable small-diameter graft as an arterial conduit.
Proc Natl Acad Sci U S A
; 116(26): 12710-12719, 2019 06 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31182572
6.
Talipes Equinovarus in Loeys-Dietz Syndrome.
J Pediatr Orthop
; 42(7): e777-e782, 2022 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35613085
7.
Tendon Healing in a Mouse Model of Loeys-Dietz Syndrome: Controlled Study Using a Patellar Tendon Transection Model.
J Pediatr Orthop
; 42(6): e590-e595, 2022 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35442932
8.
Toward precision medicine in vascular connective tissue disorders.
Am J Med Genet A
; 185(11): 3340-3349, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34428348
9.
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
10.
Safety and outcome of gastrostomy tube placement in patients with Loeys-Dietz syndrome.
BMC Gastroenterol
; 20(1): 71, 2020 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32164578
11.
Response to Biesecker et al.
Am J Hum Genet
; 108(9): 1807-1808, 2021 09 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34478655
12.
Integrin-modulating therapy prevents fibrosis and autoimmunity in mouse models of scleroderma.
Nature
; 503(7474): 126-30, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24107997
13.
Proteomics reveals Rictor as a noncanonical TGF-ß signaling target during aneurysm progression in Marfan mice.
Am J Physiol Heart Circ Physiol
; 315(5): H1112-H1126, 2018 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30004239
14.
First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report.
BMC Med Genet
; 19(1): 170, 2018 09 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30219046
15.
Carotid Artery Tortuosity Index Is Associated With the Need for Early Aortic Root Replacement in Patients With Loeys-Dietz Syndrome.
J Comput Assist Tomogr
; 42(5): 747-753, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29901510
16.
Spondylolisthesis is Common, Early, and Severe in Loeys-Dietz Syndrome.
J Pediatr Orthop
; 38(8): e455-e461, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29889773
17.
Atenolol versus losartan in children and young adults with Marfan's syndrome.
N Engl J Med
; 371(22): 2061-71, 2014 Nov 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-25405392
18.
Loss-of-function mutations in the X-linked biglycan gene cause a severe syndromic form of thoracic aortic aneurysms and dissections.
Genet Med
; 19(4): 386-395, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27632686
19.
Moderately Elevated Homocysteine Does Not Contribute to Thoracic Aortic Aneurysm in Mice.
J Nutr
; 147(7): 1290-1295, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28539414
20.
Lessons on the pathogenesis of aneurysm from heritable conditions.
Nature
; 473(7347): 308-16, 2011 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-21593863