Detalles de la búsqueda
1.
Species-dependent posttranscriptional regulation of NOS1 by FMRP in the developing cerebral cortex.
Cell
; 149(4): 899-911, 2012 May 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-22579290
2.
New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.
Hum Mol Genet
; 26(2): 438-453, 2017 01 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28073927
3.
Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.
Genet Epidemiol
; 39(3): 207-16, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25631615
4.
Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.
Hum Mol Genet
; 23(5): 1320-32, 2014 Mar 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-24150847
5.
Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
Mol Psychiatry
; 20(5): 647-656, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25288136
6.
An exome study of Parkinson's disease in Sardinia, a Mediterranean genetic isolate.
Neurogenetics
; 16(1): 55-64, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25294124
7.
Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration.
Hum Mol Genet
; 22(23): 4857-69, 2013 Dec 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23873044
8.
Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.
Hum Mol Genet
; 22(13): 2754-64, 2013 Jul 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23474815
9.
Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.
Hum Mol Genet
; 22(17): 3597-607, 2013 Sep 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-23669352
10.
Heritabilities, proportions of heritabilities explained by GWAS findings, and implications of cross-phenotype effects on PR interval.
Hum Genet
; 134(11-12): 1211-9, 2015 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-26385552
11.
Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium.
Hum Genet
; 134(2): 131-46, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25367360
12.
Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.
Am J Hum Genet
; 90(3): 467-77, 2012 Mar 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-22341971
13.
Genetic adaptation of fatty-acid metabolism: a human-specific haplotype increasing the biosynthesis of long-chain omega-3 and omega-6 fatty acids.
Am J Hum Genet
; 90(5): 809-20, 2012 May 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-22503634
14.
Genome-wide association study identifies novel loci associated with circulating phospho- and sphingolipid concentrations.
PLoS Genet
; 8(2): e1002490, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22359512
15.
Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases.
PLoS Genet
; 8(5): e1002741, 2012 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-22693455
16.
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
PLoS Genet
; 8(3): e1002607, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22479202
17.
Common genetic determinants of intraocular pressure and primary open-angle glaucoma.
PLoS Genet
; 8(5): e1002611, 2012.
Artículo
en Inglés
| MEDLINE | ID: mdl-22570627
18.
Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies.
Nat Genet
; 38(5): 556-60, 2006 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-16582909
19.
Common DNA variants predict tall stature in Europeans.
Hum Genet
; 133(5): 587-97, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24253421
20.
Telomere length in circulating leukocytes is associated with lung function and disease.
Eur Respir J
; 43(4): 983-92, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24311771