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Relevancia Evaluación Nuevo primero Antiguo primero

dbGaP phs001122 Genome-wide Identification of Variants Affecting Early Human Brain Development - pht008640.v1.p1

- 29.01.25 - 6 formularios, 1 itemgroup, 13 items, 1 idioma
Itemgroup: pht008640
Principal Investigator: Rebecca C. Knickmeyer, PhD, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA MeSH: Brain,Magnetic Resonance Imaging,White Matter,Gray Matter,Cerebrospinal Fluid https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001122 This is a genome-wide association study (GWAS) of global brain tissue volumes in human infants. The published study for this project includes 561 infants, and 239 parents gave consent for data sharing through dbGaP. An intronic single-nucleotide polymorphism (SNP) in IGFBP7 (rs114518130; GeneID: 3490) met genome-wide significance for gray matter volume (P=4.15x10sup-10/sup). An intronic SNP in WWOX (rs10514437; GeneID: 51741) neared genome-wide significance for white matter volume (P=1.56x10sup-8/sup). Additional loci with small P-values include psychiatric GWAS associations and transcription factors expressed in the developing brain. Genetic risk scores for schizophrenia and ASD, and the number of genes affected by rare copy number variants (CNV burden) did not predict global brain tissue volumes. Integrating these results with large-scale GWAS in adolescents [Philadelphia Neurodevelopmental Cohort (PNC)] and adults [Enhancing Neuro Imaging Genetics through Meta-Analysis version 2 (ENIGMA2)] suggested minimal overlap between common variants impacting brain volumes at different ages.

pht008641.v1.p1

1 itemgroup 14 items

Eligibility

1 itemgroup 2 items

pht008637.v1.p1

1 itemgroup 4 items

pht008638.v1.p1

1 itemgroup 7 items

pht008639.v1.p1

1 itemgroup 2 items

NINDS CDE Imaging Analysis Technique and Results – Baseline Multiple Sclerosis - Imaging Analysis Technique and Results – Baseline

- 14.08.16 - 1 formulario, 15 itemgroups, 195 items, 1 idioma
Itemgroups: analysis lesion mri, analysis GD-ENHANCING LESIONS, analysis lesion mri, ANALYSIS BRAIN VOLUME, ANALYSIS VENTRICULAR VOLUME, ANALYSIS GRAY MATTER VOLUME, ANALYSIS GRAY MATTER LESIONS, ANALYSIS WHITE MATTER VOLUME, VOLUMETRIC ANALYSIS BRAIN REGIONAL, volumetric analyses, ANALYSIS SPINAL CORD LESIONS, SPINAL CORD VOLUME AREA, Tissue Integrity Measures, MTR, DTI
NINDS Common Data Elements, Multiple Sclerosis Imaging Analysis Technique and Results – Baseline Used from the National Institute of Neurological Disorders and Stroke Common Data Elements (https://www.commondataelements.ninds.nih.gov/) References: Grinnon ST, Miller K, Marler JR, Lu Y, Stout A, Odenkirchen J, Kunitz S. National Institute of Neurological Disorders and Stroke Common Data Element Project - approach and methods. Clin Trials. 2012;9(3):322-9.

NINDS CDE Imaging Analysis Technique and Results – Follow Up Multiple Sclerosis - Imaging Analysis Technique and Results – Follow Up

- 14.08.16 - 1 formulario, 13 itemgroups, 83 items, 1 idioma
Itemgroups: analysis lesion mri, analysis GD-ENHANCING LESIONS, lesions Combined Unique Active, analysis lesion mri , ANALYSIS BRAIN VOLUME change, ANALYSIS VENTRICULAR VOLUME change, ANALYSIS GRAY MATTER VOLUME, ANALYSIS GRAY MATTER LESIONS, ANALYSIS WHITE MATTER VOLUME, VOLUMETRIC ANALYSIS REGIONAL, ANALYSIS SPINAL CORD LESIONS, Tissue Integrity Measures MTR, DTI
NINDS Common Data Elements, Multiple Sclerosis Imaging Analysis Technique and Results – Follow Up Used from the National Institute of Neurological Disorders and Stroke Common Data Elements (https://www.commondataelements.ninds.nih.gov/) References: Grinnon ST, Miller K, Marler JR, Lu Y, Stout A, Odenkirchen J, Kunitz S. National Institute of Neurological Disorders and Stroke Common Data Element Project - approach and methods. Clin Trials. 2012;9(3):322-9.

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