Detalhe da pesquisa
1.
CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
Mol Genet Metab
; 140(4): 107713, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37922835
2.
Interference of nuclear mitochondrial DNA segments in mitochondrial DNA testing resembles biparental transmission of mitochondrial DNA in humans.
Genet Med
; 23(8): 1514-1521, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33846581
3.
Correction to: Comparative multidimensional molecular analyses of pediatric diffuse intrinsic pontine glioma reveals distinct molecular subtypes.
Acta Neuropathol
; 140(2): 247, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32562017
4.
Whole exome sequencing in patients with white matter abnormalities.
Ann Neurol
; 79(6): 1031-1037, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27159321
5.
Hereditary fructose intolerance mimicking a biochemical phenotype of mucolipidosis: A review of the literature of secondary causes of lysosomal enzyme activity elevation in serum.
Am J Med Genet A
; 173(2): 501-509, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27797444
6.
A de novo mutation in the ß-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Am J Hum Genet
; 92(5): 767-73, 2013 May 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23582646
7.
Resting-state striato-frontal functional connectivity is sensitive to DAT1 genotype and predicts executive function.
Cereb Cortex
; 25(2): 336-45, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23968837
8.
A clinicopathologic study of diencephalic pediatric low-grade gliomas with BRAF V600 mutation.
Acta Neuropathol
; 130(4): 575-85, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-26264609
9.
Circulating and urinary microRNA profile in focal segmental glomerulosclerosis: a pilot study.
Eur J Clin Invest
; 45(4): 394-404, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25682967
10.
Multi-omic integrated networks connect DNA methylation and miRNA with skeletal muscle plasticity to chronic exercise in Type 2 diabetic obesity.
Physiol Genomics
; 46(20): 747-65, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138607
11.
Single-molecule long-read 16S sequencing to characterize the lung microbiome from mechanically ventilated patients with suspected pneumonia.
J Clin Microbiol
; 52(11): 3913-21, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25143582
12.
Comparative multidimensional molecular analyses of pediatric diffuse intrinsic pontine glioma reveals distinct molecular subtypes.
Acta Neuropathol
; 127(6): 881-95, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24297113
13.
DNA methylation profile associated with rapid decline in kidney function: findings from the CRIC study.
Nephrol Dial Transplant
; 29(4): 864-72, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24516231
14.
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study.
Lancet
; 380(9841): 572-80, 2012 Aug 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-22607825
15.
Racial disparity with on-treatment platelet reactivity in patients undergoing percutaneous coronary intervention.
Am Heart J
; 166(2): 266-72, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23895809
16.
Effect of dopamine transporter genotype on intrinsic functional connectivity depends on cognitive state.
Cereb Cortex
; 22(9): 2182-96, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22047966
17.
Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.
Lancet
; 377(9763): 383-92, 2011 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-21239051
18.
A genome-wide association study reveals variants in ARL15 that influence adiponectin levels.
PLoS Genet
; 5(12): e1000768, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20011104
19.
Variants of the ankyrin repeat domain 6 gene (ANKRD6) and muscle and physical activity phenotypes among European-derived American adults.
J Strength Cond Res
; 26(7): 1740-8, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22580979
20.
Precocious Puberty in a Boy With Bilateral Leydig Cell Tumors due to a Somatic Gain-of-Function LHCGR Variant.
J Endocr Soc
; 6(10): bvac127, 2022 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36111273