Detalhe da pesquisa
1.
Uncertainty in Genomics Impacts Precision Medicine.
Trends Genet
; 37(8): 711-716, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-33218792
2.
Digital vascular lesions detected by transillumination.
Am J Med Genet A
; 188(1): 99-103, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34529342
3.
Arachnodactyly represented in art.
Am J Med Genet C Semin Med Genet
; 187(2): 163-167, 2021 06.
Artigo
Inglês
| MEDLINE | ID: mdl-34021688
4.
Expanding the phenotypic spectrum of Mendelian connective tissue disorders to include prominent kidney phenotypes.
Am J Med Genet A
; 185(12): 3762-3769, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34355836
5.
Marfan syndrome: improved clinical history results in expanded natural history.
Genet Med
; 21(8): 1683-1690, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30573797
6.
Health-Related Quality of Life in Children and Young Adults with Marfan Syndrome.
J Pediatr
; 204: 250-255.e1, 2019 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30270167
7.
Genome sequencing reveals a deep intronic splicing ACVRL1 mutation hotspot in Hereditary Haemorrhagic Telangiectasia.
J Med Genet
; 55(12): 824-830, 2018 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30244195
8.
Germline Loss-of-Function Mutations in EPHB4 Cause a Second Form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) Deregulating RAS-MAPK Signaling.
Circulation
; 136(11): 1037-1048, 2017 Sep 12.
Artigo
Inglês
| MEDLINE | ID: mdl-28687708
9.
Covered Stents in the Treatment of Pulmonary Arteriovenous Malformations.
J Vasc Interv Radiol
; 29(7): 981-985, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29935788
10.
Predictors of Rapid Aortic Root Dilation and Referral for Aortic Surgery in Marfan Syndrome.
Pediatr Cardiol
; 39(7): 1453-1461, 2018 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-29948025
11.
Atenolol versus losartan in children and young adults with Marfan's syndrome.
N Engl J Med
; 371(22): 2061-71, 2014 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-25405392
12.
Chronobiology of Acute Aortic Syndromes.
Heart Fail Clin
; 13(4): 697-701, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28865779
13.
Shock complicating type A acute aortic dissection: Clinical correlates, management, and outcomes.
Am Heart J
; 176: 93-9, 2016 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27264225
14.
Effect of Topical Intranasal Therapy on Epistaxis Frequency in Patients With Hereditary Hemorrhagic Telangiectasia: A Randomized Clinical Trial.
JAMA
; 316(9): 943-51, 2016 09 06.
Artigo
Inglês
| MEDLINE | ID: mdl-27599329
15.
Stroke and outcomes in patients with acute type A aortic dissection.
Circulation
; 128(11 Suppl 1): S175-9, 2013 Sep 10.
Artigo
Inglês
| MEDLINE | ID: mdl-24030403
16.
Persistence of Pulmonary Arteriovenous Malformation after Embolization: Another Reason to Quit Smoking.
Radiology
; 292(3): 771-772, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-31364958
17.
Response to Knoppers et al.
Genet Med
; 21(10): 2403, 2019 10.
Artigo
Inglês
| MEDLINE | ID: mdl-30971833
18.
Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 21(4): 769-771, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30578420
19.
Heritable thoracic aortic disorders.
Curr Opin Cardiol
; 29(1): 97-102, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24284977
20.
A qualitative study of healthcare providers' perspectives on the implications of genome-wide testing in pediatric clinical practice.
J Genet Couns
; 23(4): 474-88, 2014 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-24037030