2q31.2

Part of the chromosome bands present on the long (q) arm of chromosome 2.
National Institutes of Health

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ChromosomesHNRPA3 wt Allele

Papers overview

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2014
2014
Genome-wide copy number variation analysis identifies deletion variants associated with ankylosing spondylitis.
OBJECTIVE To identify ankylosing spondylitis (AS)-associated copy number variations (CNVs) in Korean subjects and their… Expand
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2014
2014
DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.
Recessive DYT16 dystonia associated with mutations in PRKRA has until now been reported only in seven Brazilian patients. The aim… Expand
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2012
2012
A major imprinted gene involved in hydatidiform mole is not located in 2q31.2-qter or 5q34-qter.
INTRODUCTION Hydatidiform mole is an abnormal human pregnancy, characterised by absent or abnormal embryonic differentiation… Expand
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2010
2010
Ectodermal dysplasia-like syndrome with mental retardation due to contiguous gene deletion: further clinical and molecular delineation of del(2q32) syndrome.
We report on a patient with an interstitial deletion of the long arm of chromosome 2 at 2q31.2q33.2. She had prenatal and… Expand
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2009
2009
Cytogenetic, FISH and array-CGH characterization of a complex chromosomal rearrangement carried by a mentally and language impaired patient.
We describe a patient with an abnormal phenotype and a de novo CCR consisting of a reciprocal translocation between chromosomes 1… Expand
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Highly Cited
2008
Highly Cited
2008
DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA
BACKGROUND Dystonia and parkinsonism may present as part of the same genetic disorder. Identification of the genetic mutations… Expand
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2008
2008
Detection of known and novel genomic rearrangements by array based comparative genomic hybridisation: deletion of ZNF533 and duplication of CHARGE syndrome genes.
BACKGROUND Mental retardation can be caused by copy number variations (deletions, insertions, duplications), ranging in size from… Expand
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2007
2007
Clinical and molecular characterization of a patient with a 2q31.2-32.3 deletion identified by array-CGH.
We report on a patient with a de novo interstitial deletion of the long arm of chromosome 2 involving bands 2q31.2-2q32.3. The… Expand
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2007
2007
Novel mutations in the pejvakin gene are associated with autosomal recessive non-syndromic hearing loss in Iranian families.
To the Editor: Hearing loss is a very heterogeneous disorder and may be due to genetic or environmental causes, or both. The… Expand
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2005
2005
HnRNP A3 genes and pseudogenes in the vertebrate genomes.
The hnRNP A/B type proteins are abundant nuclear factors that bind to Pol II transcripts and are involved in numerous RNA-related… Expand
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