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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
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Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Early progression to active tuberculosis is a highly heritable trait driven by 3q23 in Peruvians
Of the 1.8 billion people worldwide infected with Mycobacterium tuberculosis, 5–15% will develop active tuberculosis (TB… 
2014
2014
Adrenal Medullary Hyperplasia Is a Precursor Lesion for Pheochromocytoma in MEN2 Syndrome12
Highly Cited
2007
Highly Cited
2007
A genomewide screen for late-onset Alzheimer disease in a genetically isolated Dutch population.
Alzheimer disease (AD) is the most common cause of dementia. We conducted a genome screen of 103 patients with late-onset AD who… 
Review
2003
Review
2003
Evidence for defective retinoid transport and function in late onset Alzheimer's disease
The hypothesis of this article is that late onset Alzheimer's disease (AD) is influenced by the availability in brain of retinoic… 
Highly Cited
2001
Highly Cited
2001
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure… 
Highly Cited
2001
Highly Cited
2001
A 11.7-kb deletion triggers intersexuality and polledness in goats
Mammalian sex determination is governed by the presence of the sex determining region Y gene (SRY) on the Y chromosome. Familial… 
Highly Cited
2000
Highly Cited
2000
Identification of three new members of the phospholipid scramblase gene family.
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… 
Review
1993
Review
1993
Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) associated with interstitial deletion of band 3q22: review and gene assignment to the interface of band 3q22.3 and 3q23.
We report on a child with blepharophimosis, ptosis, and epicanthus inversus (BPES), developmental delay and an interstitial… 
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… 
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