Skip to search formSkip to main contentSkip to account menu

5q31.3

A chromosome band present on 5q
National Institutes of Health

Related topics

Related topics

4 relations
ChromosomesFCHSD1 wt AlleleUBE2D2 wt Allelechromosome 5q

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
De novo mutations in PURA are associated with hypotonia and developmental delay
PURA is the leading candidate gene responsible for the developmental phenotype in the 5q31.3 microdeletion syndrome. De novo… 
2015
2015
Long-term follow-up of a patient with 5q31.3 microdeletion syndrome and the smallest de novo 5q31.2q31.3 deletion involving PURA
Purine-rich element binding protein A (PURA, MIM 600473), is considered the crucial phenocritical gene for an emerging 5q31.3… 
2013
2013
5q31.3 Microdeletion syndrome: Clinical and molecular characterization of two further cases
The 5q31.3 microdeletion syndrome has recently emerged as a distinct clinical entity, and we report two new patients with de novo… 
Highly Cited
2011
Highly Cited
2011
A new microdeletion syndrome of 5q31.3 characterized by severe developmental delays, distinctive facial features, and delayed myelination
Chromosomal deletion including 5q31 is rare and only a few patients have been reported to date. We report here on the first two… 
Highly Cited
2007
Highly Cited
2007
Gene dosage alterations revealed by cDNA microarray analysis in cervical cancer: Identification of candidate amplified and overexpressed genes
Cervical cancer (CC) cells exhibit complex karyotypic alterations, which is consistent with deregulation of numerous critical… 
Highly Cited
2006
Highly Cited
2006
Chromosome 5 imbalance mapping in breast tumors from BRCA1 and BRCA2 mutation carriers and sporadic breast tumors
Comparative genomic hybridization (CGH) analysis has shown that chromosome 5q deletions are the most frequent aberration in… 
Highly Cited
1998
Highly Cited
1998
Molecular cytogenetic delineation of the critical deleted region in the 5q− syndrome
The 5q− syndrome is a distinct type of myelodysplastic syndrome (MDS) characterised by refractory anaemia, morphological… 
1994
1994
A YAC contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32.
Treacher Collins syndrome (TCOF1) is an autosomal dominant disorder of craniofacial development the features of which include… 
Highly Cited
1992
Highly Cited
1992
Molecular cloning, chromosomal mapping, and functional expression of human brain glutamate receptors.
A full-length cDNA clone encoding a glutamate receptor was isolated from a human brain cDNA library, and the gene product was… 
1986
1986
A case of rhabdomyosarcoma of the bladder with a (2;5) chromosomal translocation in peripheral lymphocytes.
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)