Detalhe da pesquisa
1.
Discovering the ANK2-related autism phenotype.
Clin Genet
; 104(3): 384-386, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37088467
2.
Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.
J Neurol Neurosurg Psychiatry
; 95(3): 288-290, 2024 Feb 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38041669
3.
Regulation of Brain Cholesterol: What Role Do Liver X Receptors Play in Neurodegenerative Diseases?
Int J Mol Sci
; 20(16)2019 Aug 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31398791
4.
Liver X receptors: from cholesterol regulation to neuroprotection-a new barrier against neurodegeneration in amyotrophic lateral sclerosis?
Cell Mol Life Sci
; 73(20): 3801-8, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27510420
5.
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.
PLoS Genet
; 10(9): e1004580, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25188300
6.
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
J Med Genet
; 51(11): 724-36, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25167861
7.
Right ventricular systolic function in organic mitral regurgitation: impact of biventricular impairment.
Circulation
; 127(15): 1597-608, 2013 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-23487435
8.
To spare or not to spare ? The aortic valve in scleroderma and aortic root aneurysm.
J Card Surg
; 29(1): 55-8, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24224770
9.
Management and outcomes of pregnant women with cardiovascular diseases in a cardio-obstetric team.
Arch Cardiovasc Dis
; 2024 Apr 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-38644069
10.
Transcatheter Closure of Perimembranous Ventricular Septal Defects Including Multifenestrated and Gerbode-Type Defects Using the Lifetech Konar Device.
J Clin Med
; 12(19)2023 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37835013
11.
Intracoronary autologous mononucleated bone marrow cell infusion for acute myocardial infarction: results of the randomized multicenter BONAMI trial.
Eur Heart J
; 32(14): 1748-57, 2011 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-21127322
12.
Compound heterozygous P67S/D91A SOD1 mutations in an ALS family with apparently sporadic case.
Amyotroph Lateral Scler Frontotemporal Degener
; 23(5-6): 458-461, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34668453
13.
A common polymorphism in NR1H2 (LXRbeta) is associated with preeclampsia.
BMC Med Genet
; 12: 145, 2011 Oct 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-22029530
14.
Association of Mortality With Aortic Stenosis Severity in Outpatients: Results From the VALVENOR Study.
JAMA Cardiol
; 6(12): 1424-1431, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34586336
15.
High-resolution melting analysis of sequence variations in the cytidine deaminase gene (CDA) in patients with cancer treated with gemcitabine.
Ther Drug Monit
; 32(1): 53-60, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20010457
16.
Premature termination codons in SOD1 causing Amyotrophic Lateral Sclerosis are predicted to escape the nonsense-mediated mRNA decay.
Sci Rep
; 10(1): 20738, 2020 11 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-33244158
17.
Clinical Phenotype and Inheritance in Patients With C9ORF72 Hexanucleotide Repeat Expansion: Results From a Large French Cohort.
Front Neurosci
; 14: 316, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32410933
18.
Utility of Three-Dimensional Transesophageal Echocardiography for Mitral Annular Sizing in Transcatheter Mitral Valve Replacement Procedures: A Cardiac Computed Tomographic Comparative Study.
J Am Soc Echocardiogr
; 33(10): 1245-1252.e2, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32718722
19.
Functional impairment of von Willebrand factor in hypertrophic cardiomyopathy: relation to rest and exercise obstruction.
Circulation
; 118(15): 1550-7, 2008 Oct 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-18809794
20.
Conservative surgical treatment for active infective tricuspid valve endocarditis according to the "clover technique".
Heart Surg Forum
; 11(2): E120-6, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18430654