22q13.2

A chromosome band present on 22q
National Institutes of Health

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7 relations
22qChromosomesEP300 wt AlleleRBX1 wt Allele
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Papers overview

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2014
2014
A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region.
Phelan-McDermid syndrome, also known as the 22q13 deletion syndrome, is a chromosomal microdeletion syndrome characterized by… Expand
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2013
2013
Large-scale genotyping identifies a new locus at 22q13.2 associated with female breast size.
BACKGROUND Individual differences in breast size are a conspicuous feature of variation in human females and have been associated… Expand
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2013
2013
A genome-wide association study on a southern European population identifies a new Crohn's disease susceptibility locus at RBX1-EP300.
OBJECTIVE Genome-wide association studies (GWAS) have identified multiple risk loci for Crohn's disease (CD). However, the… Expand
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2009
2009
BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1
BackgroundMicrodeletion of the chromosome 22q11.2 region is the most common genetic aberration among patients with… Expand
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Highly Cited
2006
Highly Cited
2006
Loss of the tissue-specific proapoptotic BH3-only protein Nbk/Bik is a unifying feature of renal cell carcinoma
We report for the first time inactivation of a tissue-specific Bcl-2 homology domain 3 (BH3)-only protein as a common aspect in… Expand
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2005
2005
Molecular characterisation of patients with subtelomeric 22q abnormalities using chromosome specific array-based comparative genomic hybridisation
The 22q13 deletion syndrome is associated with global developmental delay, absent or delayed speech, and generalised hypotonia… Expand
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2005
2005
Comparative genomics on mammalian Fgf3-Fgf4 locus.
The CCND1-ORAOV1-FGF19-FGF4-FGF3-TMEM16A-FADD-PPFIA1-CTTN (EMS1) locus at human chromosome 11q13.3 is amplified in head and neck… Expand
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2001
2001
Human septin 3 on chromosome 22q13.2 is upregulated by neuronal differentiation.
An expression sequence tag identified in a screen for genes upregulated by retinoic acid induced neuronal differentiation of the… Expand
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2000
2000
Cloning and expression of the histo-blood group Pk UDP-galactose: Ga1beta-4G1cbeta1-cer alpha1, 4-galactosyltransferase. Molecular genetic basis of the p phenotype.
The molecular genetic basis of the P histo-blood group system has eluded characterization despite extensive studies of the… Expand
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1999
1999
Common regions of deletion on chromosome 22q12.3-q13.1 and 22q13.2 in human astrocytomas appear related to malignancy grade.
Approximately 30% of human astrocytomas have been reported to display allelic loss of the long arm of chromosome 22, suggesting… Expand
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