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20q11.22

A chromosome band present on 20q
National Institutes of Health

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5 relations
20qAHCY wt AlleleCPNE1 wt AlleleChromosomes
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Papers overview

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Highly Cited
2015
Highly Cited
2015
Genetics of skin color variation in Europeans: genome-wide association studies with functional follow-up
AbstractIn the International Visible Trait Genetics (VisiGen) Consortium, we investigated the genetics of human skin color by… Expand
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2013
2013
Leukocyte telomere length-related genetic variants in 1p34.2 and 14q21 loci contribute to the risk of esophageal squamous cell carcinoma.
Short leukocyte telomere length has been associated with significantly increased risk of esophageal cancer. A previous genome… Expand
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Review
2011
Review
2011
Comprehensive field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma.
BACKGROUND Although genetic studies have reported a number of loci associated with cutaneous melanoma (CM) risk, a comprehensive… Expand
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Highly Cited
2010
Highly Cited
2010
Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.
Protein C is an important endogenous anticoagulant in hemostasis. Deficiencies of protein C due to genetic mutations or a low… Expand
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Highly Cited
2009
Highly Cited
2009
Genome screen of late-onset Alzheimer's extended pedigrees identifies TRPC4AP by haplotype analysis.
Alzheimer's disease is a complex progressive neurodegenerative disorder with profound cognitive decline. Multiple susceptibility… Expand
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Highly Cited
2008
Highly Cited
2008
Common sequence variants on 20q11.22 confer melanoma susceptibility
We conducted a genome-wide association pooling study for cutaneous melanoma and performed validation in samples totaling 2,019… Expand
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2008
2008
ITCH is a putative target for a novel 20q11.22 amplification detected in anaplastic thyroid carcinoma cells by array-based comparative genomic hybridization.
Anaplastic thyroid carcinoma (ATC) is one of the most virulent of all human malignancies, with a mean survival time among… Expand
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2008
2008
A novel insertion mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene underlies Grebe-type chondrodysplasia in a consanguineous Pakistani family
BackgroundGrebe-type chondrodysplasia (GCD) is a rare autosomal recessive syndrome characterized by severe acromesomelic limb… Expand
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2006
2006
Major feeding difficulties in the first reported case of interstitial 20q11.22-q12 microdeletion and molecular cytogenetic characterization.
We report on a 4-year-old female presenting with intrauterine growth retardation, facial dysmorphic features, major feeding… Expand
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Highly Cited
2005
Highly Cited
2005
Disruption of the BCL11B gene through inv(14)(q11.2q32.31) results in the expression of BCL11B-TRDC fusion transcripts and is associated with the absence of wild-type BCL11B transcripts in T-ALL
T-cell acute lymphoblastic leukemia (T-ALL) is associated with chromosomal aberrations characterized by juxtaposition of proto… Expand
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