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5q14.3

A chromosome band present on 5q.
National Institutes of Health

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3 relations
ChromosomesMIR9-2 wt AlleleVCAN wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype
The 5q14.3 duplication is a rare condition comprising speech and developmental delay, microcephaly, and mild ventriculomegaly… 
2013
2013
MEF2C deletions and mutations versus duplications: a clinical comparison.
2013
2013
Microdeletion 5q14.3 and anomalies of brain development
5q14.3 deletions spanning and flanking MEF2C as well as intragenic MEF2C mutations have recently been described as a cause of… 
2013
2013
Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus.
2013
2013
The MEF2C gene‐microdeletion 5q14.3 dilemma and three axioms for molecular syndromology
Shimojima et al. [2012] add the interesting hypothesis of positional effect to the many mechanisms that complicate interpretation… 
2011
2011
Response to Correspondence on ‘‘5q14.3 Deletion Manifesting as Mitochondrial Disease and Autism: Case Report’’
the 5q14.3 region. The authors hypothesized that genes that either encode or regulate the expression and/or assembly of complex I… 
2010
2010
Infantile spasms associated with 5q14.3 deletion.
West syndrome consists of the triad of infantile spasms, characteristic electroencephalogram (EEG) pattern of hypsarrythmia and… 
Highly Cited
2006
Highly Cited
2006
Identification of the genetic defect in the original Wagner syndrome family.
PURPOSE The aim of the present study was to determine the genetic defect in Wagner syndrome, a rare disorder belonging to the… 
1999
1999
Refined genetic and physical localization of the Wagner disease (WGN1) locus and the genes CRTL1 and CSPG2 to a 2- to 2.5-cM region of chromosome 5q14.3.
Wagner syndrome (WGN1; MIM 143200), an autosomal dominant vitreoretinopathy characterized by chorioretinal atrophy, cataract, and… 
1991
1991
Fine Mapping of Probes in the Adenomatous Polyposis Coli Region of Chromosome 5 by In Situ Hybridization
The gene for adenomatous polyposis coli has been localized to 5q21–22. We have mapped six probes from this region using isotopic… 
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