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22q13.2

A chromosome band present on 22q
National Institutes of Health

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22qChromosomesEP300 wt AlleleRBX1 wt Allele

Papers overview

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2018
2018
Unilateral Opercular Po ymicrogyria in a Girl with 22 q 13 Deletion Syndrome
The 22q13 deletion syndrome, also known as Phelan-McDermid Syndrome (PMS), is a chromosomal microdeletion syndrome characterized… 
2016
2016
Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability.
2012
2012
Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism
Abstract The 22q13.3 deletion syndrome has been widely reported, with a known phenotype including global developmental delay… 
2009
2009
Initiation codon mutation in βB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract
Purpose To identify the molecular basis for autosomal recessively inherited congenital non-syndromic pulverulent cataracts in a… 
Review
2007
Review
2007
What we know about ST13, a co-factor of heat shock protein, or a tumor suppressor?
This article is to summarize the molecular and functional analysis of the gene “suppression on of tumorigenicity 13” (ST13). ST13… 
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… 
2004
2004
Loss of heterozygosity reveals non-VHL allelic loss in hemangioblastomas at 22q13.
2002
2002
[An allelotype study of human glioblastoma].
OBJECTIVE To reveal the molecular genetic mechanisms for the pathogenesis of glioblastoma (GBM) and determine which chromosomes… 
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… 
1986
1986
Probable involvement of immunoglobulin superfamily genes in most recurrent chromosomal rearrangements from ataxia telangiectasia
SummaryFrom the chromosomal analysis of 9461 lymphocytes from 57 patients affected by ataxia telangiectasia, it is concluded that… 
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