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5p13.2

A chromosome band present on 5p
National Institutes of Health

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5 relations
Chromosome 5 Short ArmChromosomesNIPBL wt AlleleOSMR wt Allele

Papers overview

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2017
2017
Electroclinical characteristics and neuropsychological profile of a female child with chromosome 5p13.2 duplication syndrome
The chromosome 5p13.2 duplication syndrome [1] is a rare genetic syndrome caused by trisomy of the short-arm of chromosome 5. The… 
2016
2016
Selected gene polymorphisms effect on skin and hair pigmentation in Polish children at the prepubertal age.
SUMMARY Background: Human pigmentation, similarly as many other biological features, changes in the course of post-natal… 
2013
2013
Anesthetic experience of a patient with cri du chat syndrome
Cri du chat syndrome (CdCS), first described by Lejune et al. in 1963, is a rare genetic disease resulting from a deletion of the… 
2012
2012
In‐frame multi‐exon deletion of SMC1A in a severely affected female with Cornelia de Lange Syndrome
Cornelia de Lange Syndrome (CdLS) is a genetically heterogeneous disorder characterized by dysmorphic facial features, cleft… 
2012
2012
Neonatal detection of 5p13.2 duplication and delineation of the phenotype
A newborn boy with broad forehead, mild microretrognathia, large hands and feet, arachnodactyly and a cortical thumb also had… 
2009
2009
Prenatal diagnosis of partial trisomy 14q (14q31.1-->qter) and partial monosomy 5p (5p13.2-->pter) associated with polyhydramnios, short limbs, micropenis and brain malformations.
The fetus was the 1096-g product of 28-week gestation in a 31-yearold, gravida 2, para 1, mother who had undergone amniocentesis… 
2007
2007
Gain and overexpression of the oncostatin M receptor occur frequently in cervical squamous cell carcinoma and are associated with adverse clinical outcome
For many oncogenes, increased expression resulting from copy number gain confers a selective advantage to cells that consequently… 
2005
2005
Expression of a novel alternative transcript of the novel retinal pigment epithelial cell gene NORPEG in human testes.
AIM To identify a novel alternative transcript of the novel retinal pigment epithelial cell gene (NORPEG) expressed in the human… 
2004
2004
Elucidation of a cryptic interstitial 7q31.3 deletion in a patient with a language disorder and mild mental retardation by array‐CGH
We report on a 14‐year‐old boy who presented with bilateral cleft lip and palate, hearing loss, a language processing disorder… 
1998
1998
RAD1, a human structural homolog of the Schizosaccharomyces pombe RAD1 cell cycle checkpoint gene.
Cell cycle checkpoints are gating mechanisms that govern cell cycle progression in the presence of DNA damage and incomplete DNA… 
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