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Haploinsufficiency / Compound heterozygosity / Genetic variation / Penetrance / Population genetics / Genomes Project / Genome-wide association study / Single-nucleotide polymorphism / Human genome / Biology / Genetics / Philosophy of biology


Clan Genomics and the Complex Architecture of Human Disease
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Document Date: 2015-01-14 10:34:21

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File Size: 1,23 MB

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City

Coventry / Lench / Rappaport / Kim / Chilewski / Lincoln / Shroyer / Nowak / L.A. / /

Company

Athena Diagnostics / SeqWright Inc. / Zabriskie N.A. Li / Greeley S.A. / Goldman / Bernstein / Elsevier Inc. / Ion Torrent Systems / AMD / Stephens / 23andMe / McCarroll S.A. / Miller N.A. / Kraft / Cox / Keebler / /

Country

United States / /

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Facility

Genetics Center University of Texas Health Science Center / National Human Genome Research Institute / National Institute of Neurological Disorders / Human Disease The square / Baylor College of Medicine / Pediatrics Baylor College of Medicine / /

IndustryTerm

premutation carrier population / abundant food supplies / similar heterozygous carrier susceptibilities / heterozygous carrier state / imaging / carrier states / heterozygous carrier status / genomic technologies / carrier frequency / health care systems / microarray technologies / carrier mothers / /

MedicalCondition

Fanoni anemia / X-linked dominant disorder / polygenic dyslipidemia / retinitis pigmentosa / complex disease / selected genomic disorders / mild hereditary neuropathy / macular degeneration / Mendelian recessive disorder / early onset hypercholesterolemia / idiopathic pancreatitis / palsies / intrahepatic cholestasis / severe early-onset obesity / tunnel syndrome / recessive Charcot-Marie-Tooth disease / coronary atherosclerotic heart disease / recessive / monogenic disease / neuropsychiatric illness / rare and common disease / glomerulonephritis / Hereditary pancreatitis / classical Mendelian disease / psoriasis / human diseases / coronary heart disease / Stargardt disease gene / birth defects / Mendelian disease / recessive human cancer / rare single-gene disorders / Asthma / parallel common disorder / Stargardt disease / individual’s genetic disease / mental retardation / cancer / pulmonary function abnormalities / genetic disease / schizophrenia / parkinsonism / Parkinson disease / Recessive Stargardt disease / complex diseases / Charcot-Marie-Tooth disease / stroke / nonalcoholic fatty liver disease / seizure disorder / diabetes / Bloom syndrome / Gaucher disease / Immune and inflammatory pathways / chronic rhinosinusitis / Hereditary neuropathy / Angelman syndrome / inherited disease / diseases / different disorders / pancreatitis / X-linked lethal disorders / single-gene disorders / regions influencing disease / epilepsy / hypotonia / inborn errors of metabolism / deficiency / such disorders / hypercholesterolemia / Down syndrome / Fragile-X-associated tremor/ataxia syndrome / Sotos syndrome / carpal tunnel syndrome / ataxia telangiectasia / Mendelian Disorders / early onset Alzheimer disease / neonatal diabetes / common disease / COPD / chronic respiratory disease / developmental disabilities / Recurrent infections / recessive disease / Crohn disease / given disease / developmental disorders / severe X-linked mental retardation / X mental retardation / extremely high cholesterol / tremor / autism spectrum disorder / obesity / defensin deficiency syndrome / xeroderma pigmentosum / adult onset tremor/ataxia syndrome / age-related macular degeneration / common disease/rare variant / trisomy 21 / human genetic disease / familial hypercholesterolemia / cystic fibrosis / Bardet-Biedl syndrome / common diseases / 2Department Human diseases / individual’s disease / Rett Syndrome / ataxia / completely different diseases / sporadic disease / hypertension / contiguous gene syndrome / disease / complex disorders / atherosclerosis / common disorders / hypertriglyceridemia / chronic obstructive pulmonary disease / ataxia telangiestasia locus / autism / genomic disorders / Crohn’s disease / rare Mendelian diseases / SETBP1 cause Schinzel-Giedion syndrome / retinal disease / J. Cyst / fragile X-associated tremor/ataxia syndrome / chronic diseases / myocardial infarctions / Alzheimer disease / Digenic retinitis pigmentosa / highly penetrant Mendelian disease / retinitis / human disease / /

MedicalTreatment

relaxation / vaccinations / /

Organization

National Human Genome Research Institute / University of Texas Health Science Center at Houston / National Institute of Neurological Disorders and Stroke / Department of Molecular / USA 5The Human Genome Sequencing Center / Baylor College of Medicine / Houston / Department of Molecular and Human Genetics / /

Person

James R. Lupski / Van den Veyver / Van Esch / Nat / Joseph Goldstein / Smith / Johnson / Milton / Andrews / Vega / Bird / John W. Belmont / Michael Brown / Williamson / McCarthy / /

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Position

G.P. / Hunter / D.J. / T.D. / D.J. / model for severe developmental delay / consultant / Dean / Hunter / Marshall / /

Product

Skullcandy G.I. Headphone/Headset / /

ProvinceOrState

British Columbia / New Jersey / South Dakota / N.F. / /

RadioStation

CFTR / CFTR 4 / /

Technology

genotyping / stem cells / Human Genome / microarray technologies / DNA Chip / gene expression / DNA sequencing technologies / genotype / alpha / Genomics / BBS / /

URL

http /

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