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3q23

A chromosome band present on 3q
National Institutes of Health

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5 relations
ChromosomesFOXL2 wt AlleleTFDP2 wt AlleleXRN1 wt Allele

Papers overview

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2005
2005
G‐banding and molecular cytogenetic analyses of marginal zone lymphoma
We analysed the acquired chromosomal aberrations of 22 marginal zone lymphoma (MZL) patients by various genome‐wide cytogenetic… 
2002
2002
Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families.
We report the genetic characterization of one family with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) type 1 and… 
2000
2000
Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases
Abstract. Members of the Sox gene family encode transcription factors that have diverse and important functions during… 
Highly Cited
2000
Highly Cited
2000
Fine mapping suggests that the goat Polled Intersex Syndrome and the human Blepharophimosis Ptosis Epicanthus Syndrome map to a 100-kb homologous region.
To clone the goat Polled Intersex Syndrome (PIS) gene(s), a chromosome walk was performed from six entry points at 1q43. This… 
1999
1999
Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP…
BPES is a genetic disorder presenting with blepharophimosis, ptosis of the eyelids, epicanthus inversus, and telecanthus. BPES… 
1999
1999
Genomic characterization of the sheep vasopressin V1a receptor gene and promoter, with assignment to bands q23-24 of sheep chromosome 3 and cattle chromosome 5.
1998
1998
Assignment1 of the cellular retinol-binding protein 1 gene (RBP1) and of the coatomer beta` subunit gene (COPB2) to human chromosome band 3q23 by in situ hybridization
The human cellular retinol-binding protein 1 (RBP1) is responsible for the intracellular transport of vitamin A to the final site… 
1997
1997
Severe feeding problems and congenital laryngostenosis in a patient with 3q23 deletion
Abstract Common clinical features of patients with 3q23 deletion include the phenotype of BPES (blepharophimosis, ptosis… 
Highly Cited
1991
Highly Cited
1991
Blepharophimosis sequence and de novo balanced autosomal translocation [46,XY,t(3;4)(q23;p15.2)]: possible assignment of the trait to 3q23.
We report on a boy with the blepharophimosis sequence and de novo, apparently balanced reciprocal translocation between 3q23 and… 
1986
1986
Complex translocation involving chromosomes Y, 1, and 3 resulting in deletion of segment 3q23----q25.
describe what is, to our knowledge, the first familial case of pericentric inversion of chromosome 1 involving the whole of the… 
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