Detalhe da pesquisa
1.
A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis.
Hum Mol Genet
; 27(13): 2383-2391, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29659823
2.
A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis.
Hum Mol Genet
; 27(13): 2406, 2018 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29860498
3.
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
Am J Med Genet A
; 167A(12): 2975-84, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26284702
4.
Dysregulation of the PDGFRA gene causes inflow tract anomalies including TAPVR: integrating evidence from human genetics and model organisms.
Hum Mol Genet
; 19(7): 1286-301, 2010 Apr 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20071345
5.
Leukemia-associated minor histocompatibility antigen discovery using T-cell clones isolated by in vitro stimulation of naive CD8+ T cells.
Blood
; 115(23): 4923-33, 2010 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-20203263
6.
A family-based paradigm to identify candidate chromosomal regions for isolated congenital diaphragmatic hernia.
Am J Med Genet A
; 158A(12): 3137-47, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23165927
7.
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
PLoS Genet
; 5(9): e1000649, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19763161
8.
Colorectal adenomas and cancer link to chromosome 13q22.1-13q31.3 in a large family with excess colorectal cancer.
J Med Genet
; 47(10): 692-9, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20522424
9.
A candidate gene approach identifies the CHRNA5-A3-B4 region as a risk factor for age-dependent nicotine addiction.
PLoS Genet
; 4(7): e1000125, 2008 Jul 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-18618000
10.
(1)H nuclear magnetic resonance metabolomics analysis identifies novel urinary biomarkers for lung function.
J Proteome Res
; 9(6): 3083-90, 2010 Jun 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-20408573
11.
The 5q31 variants associated with psoriasis and Crohn's disease are distinct.
Hum Mol Genet
; 17(19): 2978-85, 2008 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18614543
12.
Identification of distinct plasma biomarker signatures in patients with rapid and slow declining forms of COPD.
COPD
; 7(1): 51-8, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20214463
13.
Linkage analysis of Tourette syndrome in a large Utah pedigree.
Am J Med Genet B Neuropsychiatr Genet
; 153B(2): 656-662, 2010 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-19777563
14.
Germline mutation rates in young adults predict longevity and reproductive lifespan.
Sci Rep
; 10(1): 10001, 2020 06 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-32561805
15.
High-sensitivity nanoLC-MS/MS analysis of urinary desmosine and isodesmosine.
Anal Chem
; 81(5): 1881-7, 2009 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19178285
16.
Polymorphisms in the nonmuscle myosin heavy chain 9 gene (MYH9) are associated with albuminuria in hypertensive African Americans: the HyperGEN study.
Am J Nephrol
; 29(6): 626-32, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19153477
17.
Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions.
Epilepsia
; 50(7): 1752-9, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19453707
18.
Human neuronal acetylcholine receptor A5-A3-B4 haplotypes are associated with multiple nicotine dependence phenotypes.
Nicotine Tob Res
; 11(7): 785-96, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19436041
19.
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome.
J Allergy Clin Immunol
; 122(1): 181-7, 2008 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-18602572
20.
Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization.
J Physiol
; 586(14): 3405-23, 2008 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18483067