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17q21.31

A chromosome band present on 17q
National Institutes of Health

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5 relations
17qChromosomesHEXIM1 wt AlleleSLC4A1 wt Allele

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
A de novo ankyrin mutation (ANK1 Q109X) causing severe hereditary spherocytosis from preterm neonatal period
2015
2015
CNVs in neurodevelopmental disorders
Copy number variations (CNVs) consist of duplications or deletions of chromosomal regions ranging from a few hundred to more than… 
2014
2014
17q21.31 Microdeletion: Brain Anomalies Leading to Prenatal Diagnosis
Ultrasound examination performed on a 36-year-old woman at 33 weeks of gestation showed the presence of isolated and bilateral… 
2014
2014
Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.
2012
2012
Detection of novel genomic aberrations in anaplastic astrocytomas by GTG-banding, SKY, locus-specific FISH, and high density SNP-array.
2012
2012
Complex genomic rearrangement in the SOX9 5′ region in a patient with Pierre Robin sequence and hypoplastic left scapula
Pierre Robin sequence (PRS) can occur as a component of campomelic dysplasia (CD) and acampomelic CD (ACD) caused by dysfunction… 
2011
2011
An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and skeletal abnormalities maps to the long arm of chromosome 17
Al‐Owain M, Alazami AM, Alkuraya FS. An autosomal recessive syndrome of severe cognitive impairment, dysmorphic facies and… 
2008
2008
17q21.31: Not Your Average Genomic Address
This region of chromosome 17 has had a storied history, with changes in its DNA of import to human evolution and disease. 
2006
2006
Structural variants deconstruct the genome
Common genomic structural variants predispose to deleterious de novo genomic rearrangements. Understanding how they do so will… 
2002
2002
A novel gene IC53 stimulates ECV304 cell proliferation and is upregulated in failing heart.
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