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22q13.3

A chromosome band present on 22q
National Institutes of Health

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22qBIK wt AlleleCELSR1 wt AlleleChromosomes

Papers overview

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2013
2013
As Perturbações do Espectro do Autismo: Avanços da Biologia Molecular
As perturbacoes do espectro do autismo (PEA) constituem-se como perturbacoes do neurodesenvolvimento, incluindo alteracoes… 
2010
2010
Subtle familial translocation t(11;22)(q24.2;q13.33) resulting in Jacobsen syndrome and distal trisomy 22q13.3: further details of genotype—phenotype maps
We report on 3 kindred patients with terminal 11q monosomy and distal 22q trisomy involving theSHANK3 gene, resulting from a… 
2008
2008
A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism.
We present a girl with a terminal 22q duplication due to an unbalanced chromosomal translocation: 46, XX, der(22)(qter --> q13.31… 
2007
2007
Autistic disorder and 22q11.2 duplication
Although several reports have described the co-occurrence of autism in subjects with chromosome 22 abnormalities including… 
2003
2003
Perinatal findings and molecular cytogenetic analysis of trisomy 16q and 22q13.3 deletion
To present the perinatal findings and molecular cytogenetic analysis of a case with concomitant trisomy 16q and 22q13.3 deletion… 
Review
2003
Review
2003
Subtle trisomy 12q24.3 and subtle monosomy 22q13.3: Three new cases and review
The high resolution G‐bands (850 bands) karyotype have made it possible to identify small chromosome anomalies (5 megabases… 
1999
1999
Two novel human RAB genes with near identical sequence each map to a telomere-associated region: the subtelomeric region of 22q13.3 and the ancestral telomere band 2q13.
Two closely related genes have been identified at 2q13 and 22q13.3. These genes show similarity to members of the RAB family of… 
1997
1997
The phenotypic effects of chromosome rearrangement involving bands 7q21.3 and 22q13.3.
We report a family in which the proband has a direct insertion of band 7q21.3 into chromosome 22 at 22q13.3, karyotype 46,XX,dir… 
1997
1997
Assignment of the human stress-activated protein kinase-3 gene (SAPK3) to chromosome 22q13.3 by fluorescence in situ hybridization.
Three mitogen-activated protein (MAP) kinase family members have been identified in mammalian cells that are activated by… 
1995
1995
Localization of the human gene for fibulin-1 (FBLN1) to chromosome band 22q13.3.
Using fibulin-1 cDNA probes, we performed fluorescence in situ hybridization to map the human chromosomal location of the gene… 
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