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A combined linkage, microarray and exome analysis suggests <italic>MAP3K11</italic> as a candidate gene for left ventricular hypertrophy.
- Published in:
- BMC Medical Genomics, 2018, v. 11, p. 1, doi. 10.1186/s12920-018-0339-9
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- Publication type:
- Article
A Combined Linkage and Exome Sequencing Analysis for Electrocardiogram Parameters in the Erasmus Rucphen Family Study.
- Published in:
- Frontiers in Genetics, 2016, v. 7, p. 1, doi. 10.3389/fgene.2016.00190
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- Publication type:
- Article
Heritabilities, proportions of heritabilities explained by GWAS findings, and implications of cross-phenotype effects on PR interval.
- Published in:
- Human Genetics, 2015, v. 134, n. 11/12, p. 1211, doi. 10.1007/s00439-015-1595-9
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- Publication type:
- Article
Whole genome sequencing of late-onset Alzheimer's disease patients from genetic isolate.
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- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2015, v. 11, n. 7, p. P250, doi. 10.1016/j.jalz.2015.07.309
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- Publication type:
- Article
Abundant kif21b is associated with accelerated progression in neurodegenerative diseases.
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- Acta Neuropathologica Communications, 2014, v. 2, n. 1, p. 1, doi. 10.1186/s40478-014-0144-4
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- Publication type:
- Article
Dendritic channelopathies contribute to neocortical and sensory hyperexcitability in Fmr1<sup>−/y</sup> mice.
- Published in:
- Nature Neuroscience, 2014, v. 17, n. 12, p. 1701, doi. 10.1038/nn.3864
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- Publication type:
- Article
The Challenges of Genome-Wide Interaction Studies: Lessons to Learn from the Analysis of HDL Blood Levels.
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- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0109290
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- Publication type:
- Article
Common DNA variants predict tall stature in Europeans.
- Published in:
- Human Genetics, 2014, v. 133, n. 5, p. 587, doi. 10.1007/s00439-013-1394-0
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- Publication type:
- Article
Rescue of dendritic spine phenotype in Fmr1 KO mice with the mGluR5 antagonist AFQ056/Mavoglurant.
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- Psychopharmacology, 2014, v. 231, n. 6, p. 1227, doi. 10.1007/s00213-012-2947-y
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- Publication type:
- Article
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.
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- Human Molecular Genetics, 2014, v. 23, n. 5, p. 1320, doi. 10.1093/hmg/ddt522
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- Publication type:
- Article
Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration.
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- Human Molecular Genetics, 2013, v. 22, n. 23, p. 4857, doi. 10.1093/hmg/ddt336
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- Publication type:
- Article
Fragile X syndrome: From protein function to therapy.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 11, p. 2809, doi. 10.1002/ajmg.a.36241
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- Publication type:
- Article
Heritability of dietary food intake patterns.
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- Acta Diabetologica, 2013, v. 50, n. 5, p. 721, doi. 10.1007/s00592-012-0387-0
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- Publication type:
- Article
Meta-analysis of telomere length in 19 713 subjects reveals high heritability, stronger maternal inheritance and a paternal age effect.
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- European Journal of Human Genetics, 2013, v. 21, n. 10, p. 1163, doi. 10.1038/ejhg.2012.303
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- Publication type:
- Article
Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism.
- Published in:
- Human Mutation, 2013, v. 34, n. 9, p. 1208, doi. 10.1002/humu.22373
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- Publication type:
- Article
Autosomal Recessive Spinocerebellar Ataxia 7 ( SCAR7) is Caused by Variants in TPP1, The Gene Involved in Classic Late-Infantile Neuronal Ceroid Lipofuscinosis 2 Disease ( CLN2 Disease).
- Published in:
- Human Mutation, 2013, v. 34, n. 5, p. 706, doi. 10.1002/humu.22292
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- Publication type:
- Article
Migraine is not associated with enhanced atherosclerosis.
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- Cephalalgia, 2013, v. 33, n. 4, p. 228, doi. 10.1177/0333102412466966
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- Publication type:
- Article
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 2, p. 244, doi. 10.1002/ajmg.a.35632
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- Publication type:
- Article
Linkage analysis for plasma amyloid beta levels in persons with hypertension implicates Aβ-40 levels to presenilin 2.
- Published in:
- Human Genetics, 2012, v. 131, n. 12, p. 1869, doi. 10.1007/s00439-012-1210-2
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- Publication type:
- Article
Dopaminergic Neuronal Loss and Dopamine-Dependent Locomotor Defects in Fbxo7-Deficient Zebrafish.
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- PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048911
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- Publication type:
- Article
Phosphosphingolipid levels are associated with cognitive function and level of education in healthy subjects
- Published in:
- 2012
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- Publication type:
- Abstract
Sequencing of high-complexity DNA pools for identification of nucleotide and structural variants in regions associated with complex traits.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 1, p. 77, doi. 10.1038/ejhg.2011.138
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- Publication type:
- Article
Association of heat shock proteins with Parkinson's disease.
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- 2011
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- Publication type:
- Letter
Meta-analysis of genome-wide association studies from the CHARGE consortium identifies common variants associated with carotid intima media thickness and plaque.
- Published in:
- Nature Genetics, 2011, v. 43, n. 10, p. 940, doi. 10.1038/ng.920
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- Publication type:
- Article
Meta-analysis of genome-wide association for migraine in six population-based European cohorts.
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- European Journal of Human Genetics, 2011, v. 19, n. 8, p. 901, doi. 10.1038/ejhg.2011.48
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- Publication type:
- Article
The LRRK2 R1441C mutation is more frequent than G2019S in Parkinson's disease patients from Southern Italy.
- Published in:
- Movement Disorders, 2011, v. 26, n. 9, p. 1732, doi. 10.1002/mds.23735
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- Publication type:
- Article
Broadening the phenotype of TARDBP mutations: the TARDBP Ala382Thr mutation and Parkinson's disease in Sardinia.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 203, doi. 10.1007/s10048-011-0288-3
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- Publication type:
- Article
Association of HSP70 and its Co-Chaperones with Alzheimer's Disease.
- Published in:
- Journal of Alzheimer's Disease, 2011, v. 25, n. 1, p. 93, doi. 10.3233/JAD-2011-101560
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- Publication type:
- Article
Ablation of Fmrp in adult neural stem cells disrupts hippocampus-dependent learning.
- Published in:
- Nature Medicine, 2011, v. 17, n. 5, p. 559, doi. 10.1038/nm.2336
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- Publication type:
- Article
Fragile X Mental Retardation Protein Regulates New Neuron Differentiation in the Adult Olfactory Bulb.
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- Journal of Neuroscience, 2011, v. 31, n. 6, p. 2205, doi. 10.1523/JNEUROSCI.5514-10.2011
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- Publication type:
- Article
Novel ATP13A2 ( PARK9) homozygous mutation in a family with marked phenotype variability.
- Published in:
- Neurogenetics, 2011, v. 12, n. 1, p. 33, doi. 10.1007/s10048-010-0259-0
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- Publication type:
- Article
Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15).
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0016983
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- Publication type:
- Article
Congenital dyserythropoietic anemia type II: molecular analysis and expression of the SEC23B gene.
- Published in:
- 2011
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- Publication type:
- journal article
Tourette disorder spectrum maps to chromosome 14q31.1 in an Italian kindred.
- Published in:
- Neurogenetics, 2010, v. 11, n. 4, p. 417, doi. 10.1007/s10048-010-0244-7
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- Publication type:
- Article
Autosomal dominant restless legs syndrome maps to chromosome 20p13 (RLS-5) in a Dutch kindred.
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- Movement Disorders, 2010, v. 25, n. 11, p. 1715, doi. 10.1002/mds.23248
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- Publication type:
- Article
Genome-wide linkage screen of cognitive function identifies susceptible chromosomal regions
- Published in:
- 2010
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- Publication type:
- Abstract
A Genome-Wide Association Study of Optic Disc Parameters.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 6, p. 1, doi. 10.1371/journal.pgen.1000978
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- Publication type:
- Article
Genetic Architecture of Plasma Adiponectin Overlaps With the Genetics of Metabolic Syndrome-Related Traits.
- Published in:
- Diabetes Care, 2010, v. 33, n. 4, p. 908, doi. 10.2337/dc09-1385
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- Publication type:
- Article
Array-Based FMR1 Sequencing and Deletion Analysis in Patients with a Fragile X Syndrome-Like Phenotype.
- Published in:
- PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009476
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- Publication type:
- Article
The role of body mass index, insulin, and adiponectin in the relation between fat distribution and bone mineral density.
- Published in:
- 2010
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- Publication type:
- journal article
Genome-wide linkage analysis in a Dutch multigenerational family with attention deficit hyperactivity disorder.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 206, doi. 10.1038/ejhg.2009.148
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- Publication type:
- Article
Modeling of Environmental Effects in Genome-Wide Association Studies Identifies SLC2A2 and HP as Novel Loci Influencing Serum Cholesterol Levels.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 1, p. 1, doi. 10.1371/journal.pgen.1000798
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- Publication type:
- Article
Association between Type 2 Diabetes Loci and Measures of Fatness.
- Published in:
- PLoS ONE, 2010, v. 5, n. 1, p. 1, doi. 10.1371/journal.pone.0008541
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- Publication type:
- Article
SIRT1 Genetic Variation Is Related to BMI and Risk of Obesity.
- Published in:
- Diabetes, 2009, v. 58, n. 12, p. 2828, doi. 10.2337/db09-0536
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- Publication type:
- Article
Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 11, p. 676, doi. 10.1038/jhg.2009.96
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- Publication type:
- Article
Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.
- Published in:
- Nature Genetics, 2009, v. 41, n. 11, p. 1199, doi. 10.1038/ng.446
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- Publication type:
- Article
Collaborative Meta-analysis: Associations of 150 Candidate Genes With Osteoporosis and Osteoporotic Fracture.
- Published in:
- Annals of Internal Medicine, 2009, v. 151, n. 8, p. 528, doi. 10.7326/0003-4819-151-8-200910200-00006
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- Publication type:
- Article
First locus for primary pulmonary vein stenosis maps to chromosome 2q.
- Published in:
- European Heart Journal, 2009, v. 30, n. 20, p. 2485, doi. 10.1093/eurheartj/ehp271
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- Publication type:
- Article
A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
- Published in:
- Neurogenetics, 2009, v. 10, n. 4, p. 289, doi. 10.1007/s10048-009-0193-1
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- Publication type:
- Article
A Study of the SORL1 Gene in Alzheimer's Disease and Cognitive Function.
- Published in:
- Journal of Alzheimer's Disease, 2009, v. 18, n. 1, p. 51, doi. 10.3233/JAD-2009-1137
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- Publication type:
- Article