Detalhe da pesquisa
1.
Genetic analysis of the cardiac methylome at single nucleotide resolution in a model of human cardiovascular disease.
PLoS Genet
; 10(12): e1004813, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25474312
2.
Targeted next-generation sequencing makes new molecular diagnoses and expands genotype-phenotype relationship in Ehlers-Danlos syndrome.
Genet Med
; 18(11): 1119-1127, 2016 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-27011056
3.
Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years.
Brain
; 138(Pt 11): 3386-99, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26268531
4.
FCGR3B copy number variation is associated with susceptibility to systemic, but not organ-specific, autoimmunity.
Nat Genet
; 39(6): 721-3, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17529978
5.
Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.
BMC Med Genet
; 15: 70, 2014 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-24956927
6.
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.
Genet Med
; 15(12): 948-57, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23680767
7.
Copy number polymorphism in Fcgr3 predisposes to glomerulonephritis in rats and humans.
Nature
; 439(7078): 851-5, 2006 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-16482158
8.
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease.
Nat Genet
; 54(12): 1786-1794, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36411364
9.
A blood miRNA signature associates with sporadic Creutzfeldt-Jakob disease diagnosis.
Nat Commun
; 11(1): 3960, 2020 08 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32769986
10.
Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.
Lancet Neurol
; 19(10): 840-848, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32949544
11.
Genetic, physiological and comparative genomic studies of hypertension and insulin resistance in the spontaneously hypertensive rat.
Dis Model Mech
; 10(3): 297-306, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28130354
12.
The clinical, neuroanatomical, and neuropathologic phenotype of TBK1-associated frontotemporal dementia: A longitudinal case report.
Alzheimers Dement (Amst)
; 6: 75-81, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28229125
13.
Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.
Mol Genet Genomic Med
; 1(3): 155-61, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24498611
14.
Radiation hybrid mapping of 70 rat genes from a data set of differentially expressed genes.
Mamm Genome
; 13(4): 194-7, 2002 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-11956762
15.
Segregation of experimental autoimmune glomerulonephritis as a complex genetic trait and exclusion of Col4a3 as a candidate gene.
Exp Nephrol
; 10(5-6): 402-7, 2002.
Artigo
em Inglês
| MEDLINE | ID: mdl-12381925